The Ph.D. dissertation encompasses an interdisciplinary study exploring qualitative, holistic strategies for individuals with Fetal Alcohol Spectrum Disorder (FASD) in integrated areas of law, medicine, education, psychology and justice, through both inductive analysis of field research as well as through relevant documentary analysis, incorporating a global or comparative component. Compliance with Guidelines for Research Involving Aboriginal Peoples has been sustained through community partnerships with various First Nations and Métis Communities, Elders and Parents, as well as with an FASD Parental Advocacy Group, advised by a team of interdisciplinary researchers in the academy. Accordingly, emergent research protocols were co-constructed through ongoing collaboration with the various community partners. In Aboriginal research, it is essential not to parachute in and out of communities with the data, but rather to forge genuine, collaborative, long term partnerships, and to build capacity in those communities.<p> The dissertation format approved by the Student Advisory Committee is Manuscript Style, a format approved by the University of Saskatchewans College of Graduate Studies and Research (formerly referred to as X-Format) similar to a self-edited book or collection of articles with introduction, sub-text, intra-text and general discussion to link the manuscripts. The various manuscripts comprising the present thesis include:<p> 1.Framing the Research Anthology: A Vision Quest, Ékehohksimoht Ke-kiss-see Muya<p> Section One situates the research style, process, approach, substance and rationale of the dissertation. It is largely situated within holistic Indigenous epistemologies, which may require a paradigm shift, in contrast to more bounded western world views.<p> Interdisciplinary, holistic, community-based research on the topic of FASD, including a search for solutions, extends globally, across the lifespan, and across sectors.<p> II. Indigenous Disadvantage and Despair, An Evaluation of Recent Strategies and Alternatives: Healing and Transformation, Pluralism and Reconciliation, Ne wah kuma ka tik<p> Section Two explores historical and contextual factors leading to a high prevalence of FASD, as well as strategies to overcome disadvantage, including Reconciliation, Treaty Processes, and Research as Reconciliation. Local Narratives are privileged over Meta-narratives, to counter the power of global market forces usurping the sphere of family, community and culture.<p> III. Disjunctures and Discontinuities in the Law of Mental Intent: FASD as a Site of Resistance and Transformation, Esquiskuit<p> Section Three examines the disconnect between medical knowledge of FASD, on the one hand, and the Laws of Mental Intent, on the other, inspiring a search for a unified, integrated theory of mental disorder and criminal responsibility that takes into account modern neurocognitive conditions like FASD. Section Three further explores the present piecemeal and compartmentalized rules for fitness, responsibility, various levels of mental intent, and a resultant rationale, substance and process of law reform and systemic change.<p> IV. FASD and Holistic Literacies: A Talking or Sharing Circle, Wa-sa-cam-e-be-ke-skue<p> Section Fours inductive themes comprise model practice guidelines for the gestalt of Literacy and FASD, derived from inductive analysis of qualitative data collected in the field research. The data was collected using Sharing Circles with Aboriginal Elders, Parents, and Mentors of Individuals with FASD; Conversational Interviews with Parents and Children with FASD; as well as Interviews and Focus Groups with various Professionals who support individuals with FASD and their Families. Special protocols were followed in creating and participating in the Indigenous Research, Sharing Circles and Conversational Interviews. Meta-paradigmatic analysis situates Indigenous Research Methodologies among emerging, multi-disciplinary, inductive methodologies suitable for understanding the infinite complexity of natural phenomena, such as FASD.<p> V. Epilogue: An Honour Song, Kethou-ne-ka-mon<p> Circles of healing, transformation and reconciliation heal wounds, reconcile differences, and transform paradigms of justice, health, education and governance, through the incorporation of models of equitable, holistic relationships with one another and with Mother Earth. Multidisciplinary and cross-cultural perspectives, dialogues between local and global, and particular and universal, become matrices to support new paradigms embodying broader reflections of reality.

No description available.

Cette étude avait pour but d’évaluer, à partir d’un processus de co-construction avec les personnes concernées, dans un contexte de 1ère ligne, la mise en application d’interventions infirmières inspirées du Guide des meilleures pratiques de soins pour les endeuillés (GMPSE) auprès d’un couple ayant vécu une perte périnatale au cours des six dernier mois. Un devis de recherche d’étude de cas basé sur la démarche d’évaluation de la quatrième génération de Guba et Lincoln (1989) a été utilisé. Une infirmière expérimentée auprès des familles endeuillées, s’est inspirée de la guidance du GMPSE pour intervenir auprès d’un couple lors de cinq rencontres thérapeutiques, dont quatre ont été précédées d’une entrevue avec les personnes concernées . Ces entrevues ont permis à ces personnes d’identifier ensemble les interventions les plus utiles et les moins utiles. Le verbatim des rencontres et entrevues ont été enregistrées et transcrites à des fins d’analyses qualitatives, Les résultats de ces analyses font ressortir la pertinence des interventions inspirées du GMPSE et l’apport spécifique de la pratique infirmière auprès de la population visée. Il appert que la sensibilisation des décideurs et des cliniciens aux enjeux des personnes endeuilles soit nécessaire pour favoriser l’implantation du Guide dans les milieux de soins. Enfin, une meilleure appropriation du GMPSE est recommandée autant dans le cadre de la formation, que de la recherche et de la pratique en sciences infirmières. / The purpose of this study was to evaluate from a constructivist perspective, partnering with the stakeholders , the usefulness of nursing interventions inspired from The Best Practice Guidelines in Bereavement Care (BPGBC) in a first line context, during the follow up a couple whom had experienced a prenatal lost in the last six months. A case study design was used along with The Fourth Evaluation’s methodological approach designed by Guba and Lincoln (1989). An experienced nurse in the care of bereaved families, used the BPGBC to guide her interventions in five therapeutic meetings with the couple, followed by four interviews with the stakeholders. The interventions considered the most helpful and the less useful were identified. The gathering of the data and their analysis followed an interactive and ongoing process. The results support the pertinence of the nursing interventions inspired from the BPGBC, as well as the specific contribution of the nursing profession in the bereavement work. Implementing the BPGBC becomes a realistic goal when the managers and the clinical professionals are made aware of the issues encompassed by the grieving population. The nursing profession could incorporate the BPGBC in its training curriculum, in the research field and in the care offered to the bereaved population in different care settings.

Diss. (sammanfattning) Stockholm : Karolinska institutet, 2005. / Härtill 6 uppsatser.

As atitudes e crenças sobre a dor lombar crônica inespecífica (DLCI) dos profissionais de saúde estão associadas com as de seus pacientes, assim como com os resultados do tratamento. Por sua relevância, alguns estudos já foram realizados com o intuito de identificar as atitudes e crenças ligadas à orientação de tratamento que os médicos adotam no manejo da DLCI, bem como investigar a associação entre suas características demográficas e profissionais e suas atitudes e crenças. No entanto, no Brasil encontramos apenas uma pesquisa sobre esse tema, com fisioterapeutas que atuavam em hospitais e clínicas particulares. Os objetivos desta dissertação foram: 1) revisar os documentos que abordam o manejo da DLCI localizados na Biblioteca Virtual em Saúde do Ministério da Saúde; 2) descrever atitudes e crenças relacionadas à orientação de tratamento dos médicos de Unidades Básicas de Saúde (UBS) conveniadas a Prefeitura de Porto Alegre (PREFPOA) e identificar a associação entre suas características demográficas e profissionais e as suas atitudes e crenças relacionadas à orientação de tratamento da dor lombar crônica inespecífica. Esta dissertação foi composta por dois artigos, sendo que cada artigo inclui um dos objetivos citados. Para atingir o objetivo 1, realizamos uma revisão de documentos na língua portuguesa sobre o manejo da dor lombar publicados na Biblioteca Virtual em Saúde do Ministério da Saúde. Para atingir o objetivo 2, todos os médicos de UBS da PREFPOA foram convidados para participar do estudo. Como critérios de inclusão, foi determinado que para participar da pesquisa o médico deveria atender pelo menos um paciente com DLCI por semana e estar trabalhando na atenção básica há pelo menos seis meses. Para coleta de dados, utilizamos um questionário demográfico e profissional e o Pain Attitudes and Beliefs Scale for Physiotherapists, para avaliar as atitudes e crenças, sendo composto por duas orientações de tratamento: biomédica e comportamental. Os resultados do artigo 1 indicam que não há um documento na língua portuguesa que oriente os profissionais a utilizarem a orientação biopsicossocial no manejo de pacientes com DLCI. Os resultados do artigo 2, em que participaram do estudo 110 médicos, com idade média de 47,18(±9,52) anos, indicam uma média de 27,75(±6,89) na orientação biomédica e de 22,76(±4,44) na orientação comportamental, sendo que os médicos consideraram o papel do estresse e de questões psicossociais no manejo da DLCI, mas também relacionaram a dor à presença de lesão tecidual. Tanto na orientação biomédica quanto na comportamental as diferenças entre os grupos foram pequenas, considerando as variáveis demográficas e profissionais. Conclui-se que existe uma carência de documentos na língua portuguesa para guiar os profissionais a utilizarem a orientação biopsicossocial no manejo da DLCI, os médicos de UBS da PREFPOA apresentaram atitudes e crenças ligadas tanto à orientação biomédica quanto comportamental e nenhuma característica analisada estava associada às atitudes e crenças dos médicos. / Attitudes and beliefs about chronic nonspecific low back pain of health professionals are associated with their patients, as well as the results of treatment. For its relevance, some studies have been conducted in order to identify the attitudes and beliefs related to orientation treatment that physicians adopt in the management of chronic nonspecific low back pain and investigate the association between their demographic and professional characteristics and their attitudes and beliefs. However, in Brazil we found only research on this subject, with physiotherapists who worked in hospitals and private clinics. The objectives of this dissertation were: 1) to review the documents that address the management of chronic nonspecific low back pain located in the Virtual Health Library of the Ministry of Health; 2) describe attitudes and beliefs related to the orientation treatment of the Basic Units of Health linked the Porto Alegre Prefecture and identify the association between their demographic and professional characteristics and their attitudes and beliefs related to orientation treatment of chronic non-specific low back pain. This dissertation was composed of two articles, wherein each article includes one of said goals. To article the goal 1, we conducted a review of documents in Portuguese on the management of low back pain published in the Virtual Library of Health Ministry of Health. To article the goal 2, Porto Alegre Prefecture’ Basic Units of Health’ all physicians were invited to participate in the study. As inclusion criteria, it was determined that to participate in the survey the physician should meet at least one patient with chronic nonspecific low back pain a week and be working in primary care for at least six months. To collect data, use demographic and professional questionnaire and Pain Attitudes and Beliefs Scale for Physiotherapists, to assess attitudes and beliefs, being composed of two treatment guidelines: biomedical and behavioral. The results of Article 1 indicate that there is a document in the Portuguese language to guide professionals to use the biopsychosocial orientation in the management of patients with chronic nonspecific low back pain. The results of Article 2, in the study 110 physicians with an average age of 47.18 (± 9.52) years, indicate an average of 27.75 (± 6.89) in biomedical orientation and 22.76 (±4.44) in the behavioral orientation, and the physicians considered the role of stress and psychosocial issues in the management of chronic nonspecific low back pain, but also related pain to the presence of tissue injury. Any biomedical orientation as the behavioral differences between groups were small, considering demographic variables and professionals. It is concluded that there is a lack of documents in Portuguese to guide professionals to use the biopsychosocial guidance in the management of chronic nonspecific low back pain, Porto Alegre Prefecture’ Basic Units of Health’ physicians of presented attitudes and beliefs related to both biomedical and behavioral guidance and no analyzed characteristic was associated with attitudes and beliefs of physicians.

As atitudes e crenças sobre a dor lombar crônica inespecífica (DLCI) dos profissionais de saúde estão associadas com as de seus pacientes, assim como com os resultados do tratamento. Por sua relevância, alguns estudos já foram realizados com o intuito de identificar as atitudes e crenças ligadas à orientação de tratamento que os médicos adotam no manejo da DLCI, bem como investigar a associação entre suas características demográficas e profissionais e suas atitudes e crenças. No entanto, no Brasil encontramos apenas uma pesquisa sobre esse tema, com fisioterapeutas que atuavam em hospitais e clínicas particulares. Os objetivos desta dissertação foram: 1) revisar os documentos que abordam o manejo da DLCI localizados na Biblioteca Virtual em Saúde do Ministério da Saúde; 2) descrever atitudes e crenças relacionadas à orientação de tratamento dos médicos de Unidades Básicas de Saúde (UBS) conveniadas a Prefeitura de Porto Alegre (PREFPOA) e identificar a associação entre suas características demográficas e profissionais e as suas atitudes e crenças relacionadas à orientação de tratamento da dor lombar crônica inespecífica. Esta dissertação foi composta por dois artigos, sendo que cada artigo inclui um dos objetivos citados. Para atingir o objetivo 1, realizamos uma revisão de documentos na língua portuguesa sobre o manejo da dor lombar publicados na Biblioteca Virtual em Saúde do Ministério da Saúde. Para atingir o objetivo 2, todos os médicos de UBS da PREFPOA foram convidados para participar do estudo. Como critérios de inclusão, foi determinado que para participar da pesquisa o médico deveria atender pelo menos um paciente com DLCI por semana e estar trabalhando na atenção básica há pelo menos seis meses. Para coleta de dados, utilizamos um questionário demográfico e profissional e o Pain Attitudes and Beliefs Scale for Physiotherapists, para avaliar as atitudes e crenças, sendo composto por duas orientações de tratamento: biomédica e comportamental. Os resultados do artigo 1 indicam que não há um documento na língua portuguesa que oriente os profissionais a utilizarem a orientação biopsicossocial no manejo de pacientes com DLCI. Os resultados do artigo 2, em que participaram do estudo 110 médicos, com idade média de 47,18(±9,52) anos, indicam uma média de 27,75(±6,89) na orientação biomédica e de 22,76(±4,44) na orientação comportamental, sendo que os médicos consideraram o papel do estresse e de questões psicossociais no manejo da DLCI, mas também relacionaram a dor à presença de lesão tecidual. Tanto na orientação biomédica quanto na comportamental as diferenças entre os grupos foram pequenas, considerando as variáveis demográficas e profissionais. Conclui-se que existe uma carência de documentos na língua portuguesa para guiar os profissionais a utilizarem a orientação biopsicossocial no manejo da DLCI, os médicos de UBS da PREFPOA apresentaram atitudes e crenças ligadas tanto à orientação biomédica quanto comportamental e nenhuma característica analisada estava associada às atitudes e crenças dos médicos. / Attitudes and beliefs about chronic nonspecific low back pain of health professionals are associated with their patients, as well as the results of treatment. For its relevance, some studies have been conducted in order to identify the attitudes and beliefs related to orientation treatment that physicians adopt in the management of chronic nonspecific low back pain and investigate the association between their demographic and professional characteristics and their attitudes and beliefs. However, in Brazil we found only research on this subject, with physiotherapists who worked in hospitals and private clinics. The objectives of this dissertation were: 1) to review the documents that address the management of chronic nonspecific low back pain located in the Virtual Health Library of the Ministry of Health; 2) describe attitudes and beliefs related to the orientation treatment of the Basic Units of Health linked the Porto Alegre Prefecture and identify the association between their demographic and professional characteristics and their attitudes and beliefs related to orientation treatment of chronic non-specific low back pain. This dissertation was composed of two articles, wherein each article includes one of said goals. To article the goal 1, we conducted a review of documents in Portuguese on the management of low back pain published in the Virtual Library of Health Ministry of Health. To article the goal 2, Porto Alegre Prefecture’ Basic Units of Health’ all physicians were invited to participate in the study. As inclusion criteria, it was determined that to participate in the survey the physician should meet at least one patient with chronic nonspecific low back pain a week and be working in primary care for at least six months. To collect data, use demographic and professional questionnaire and Pain Attitudes and Beliefs Scale for Physiotherapists, to assess attitudes and beliefs, being composed of two treatment guidelines: biomedical and behavioral. The results of Article 1 indicate that there is a document in the Portuguese language to guide professionals to use the biopsychosocial orientation in the management of patients with chronic nonspecific low back pain. The results of Article 2, in the study 110 physicians with an average age of 47.18 (± 9.52) years, indicate an average of 27.75 (± 6.89) in biomedical orientation and 22.76 (±4.44) in the behavioral orientation, and the physicians considered the role of stress and psychosocial issues in the management of chronic nonspecific low back pain, but also related pain to the presence of tissue injury. Any biomedical orientation as the behavioral differences between groups were small, considering demographic variables and professionals. It is concluded that there is a lack of documents in Portuguese to guide professionals to use the biopsychosocial guidance in the management of chronic nonspecific low back pain, Porto Alegre Prefecture’ Basic Units of Health’ physicians of presented attitudes and beliefs related to both biomedical and behavioral guidance and no analyzed characteristic was associated with attitudes and beliefs of physicians.

No Brasil, os avanços nas pesquisas nacionais e internacionais não têm sido traduzidos na construção de diretrizes para nortear o tratamento tópico da úlcera venosa. Ainda persistem muitas dúvidas a respeito dos melhores tratamentos, o que gera uma diversidade de condutas. Este estudo foi desenvolvido em três etapas, com o objetivo de construir uma proposta de diretriz para tratamento tópico de úlcera venosa, a partir de evidências da literatura, e avaliar a concordância de especialistas das áreas de enfermagem e medicina antes e após duas intervenções. Na primeira etapa, buscaram-se as evidências pelo levantamento bibliográfico de publicações indexadas em diversas bases de dados. Para serem elegíveis, as publicações tinham que avaliar a terapia de compressão ou tópica no tratamento de úlcera venosa e relatar uma medida objetiva de redução de edema ou cicatrização de ferida. Na segunda etapa foi construída a proposta de diretriz, amparada nas evidências da literatura e diretrizes internacionais. Na terceira etapa, de delineamento quase-experimental, utilizou-se a técnica Delphi (Delfos) para identificar a opinião dos especialistas a respeito das recomendações e a influência das evidências e da opinião dos pares para a busca de concordância. Pela revisão sistemática de 33 estudos primários, 2 metanálises e 4 diretrizes, concluiu-se que o uso de terapia compressiva por bandagens ou meias aumenta as taxas de cicatrização e o não uso está associado com a recorrência da úlcera. O tratamento com compressão resulta em cicatrização confiável na maioria dos pacientes, mas deve ser associado a coberturas. Ao final da revisão sistemática, extraíram-se 82 recomendações que constituíram a proposta de diretriz, composta de 8 domínios: 1 avaliação do paciente e de sua ferida; 2 documentação dos achados clínicos; 3 cuidado com a ferida e pele ao redor; 4 indicação da cobertura; 5 uso de antibiótico; 6 melhoria do retorno venoso e prevenção de recidiva; 7 encaminhamentos dos pacientes; 8 capacitação profissional. O estudo quase-experimental foi desenvolvido com 42 médicos dermatologistas, angiologistas e cirurgiões vasculares e 31 enfermeiros membros da Sociedade Brasileira de Enfermagem em Dermatologia ou estomaterapeutas de várias cidades do Brasil. Durante a pesquisa, houve perda de 15 participantes. No primeiro momento, quando os participantes receberam as recomendações para a prática baseada em evidências, as melhores concordâncias ocorreram em quatro domínios. Após a primeira intervenção, quando os participantes receberam a proposta de diretriz com os estudos que as embasavam e o nível de evidência, houve aumento dos participantes na posição concordante em todos os domínios, sendo que o domínio 2 manteve-se como o melhor aceito e o 4 como o menos aceito. Após a segunda intervenção, quando os participantes tomaram conhecimento da opinião dos seus pares, houve aumento de participantes na posição concordante na maioria dos domínios, com exceção do domínio 4. O melhor aceito passou a ser o domínio 8 e o menos aceito manteve-se o domínio 4. Observou-se que as intervenções resultaram em mudanças estatisticamente significativas nos domínios 1, 3, 6 e 7. Pode-se afirmar que ambas intervenções foram capazes de modificar a posição dos participantes, levando-os para a posição de concordância quanto às recomendações baseadas em evidências para o tratamento de úlceras venosas. / In Brazil, advances in national and international research have not been translated in the construction of topic treatment guidelines for venous ulcers. Many doubts remain about what the best treatments are, which gives rise to a variety of behaviors. This three-phase study aimed to elaborate a guideline proposal for topic treatment of venous ulcers, based on evidence from literature, as well as to evaluate nursing and medical specialists’ agreements before and after two interventions. In the first phase, evidences were collected through a bibliographic survey of publications that were indexed in different databases. Publications were included if they evaluated compression or topic therapy in venous ulcer treatment and reported on an objective edema reduction or wound healing measure. In the second phase, a guideline proposal was elaborated on the basis of the evidence collected in literature and international guidelines. In the third phase, a quasi-experimental design was adopted, using the Delphi technique to identify specialists’ opinion on the recommendations and how the evidence and peer opinions influenced the search for an agreement. The systematic review of 33 primary studies, 2 meta-analyses and 4 guidelines revealed that using compression therapy by means of bandages or stockings increases healing rates and that non-use is associated with ulcer recurrence. In most patients, compression treatment results in a reliable result, although it should be associated with dressings. The systematic review resulted in 82 recommendations, which constituted the guideline proposal, covering 8 domains: 1 patient and wound assessment, 2 documentation of clinical findings, 3 wound and surrounding skin care, 4 dressing indication, 5 use of antibiotics, 6 venous return improvement and relapse prevention, 7 patient referrals, 8 professional training. The quasi-experimental study involved 42 dermatologists, angiologists and vascular surgeons and 31 nurses who were members of the Brazilian Society of Dermatology Nursing or stomal therapists from different Brazilian cities. 15 participants left the study while in course. At the beginning, when the participants received evidence-based practice recommendations, the highest agreement levels were concentrated in four domains. After the first intervention, when the participants received the guideline proposal, including the studies it was based on and the level of evidence, agreement levels increased across all domains. Domain 2 continued as the most accepted and 4 as the least accepted domain. After the second intervention, when the participants got to know their peers’ opinions, agreement levels increased in most domains, except for domain 4. Domain 8 became the most accepted, while 4 continued as the least accepted domain. The interventions brought about statistically significant changes in domains 1, 3, 6 and 7. Both interventions were capable of changing the participants’ position towards agreement on evidence-based recommendations for venous ulcer treatment.

Orientadores: Vera Lúcia Gil da Silva Lopes, Iscia Teresinha Lopes Cendes / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-21T11:59:54Z (GMT). No. of bitstreams: 1 Monteiro_FabiolaPaoliMendes_M.pdf: 4745618 bytes, checksum: 220053db4f2a750f68c332b998074576 (MD5) Previous issue date: 2012 / Resumo: A deleção 22q11. 2 é a mais frequente deleção intersticial na espécie humana, ocorrendo em aproximadamente 1/4000 nascidos vivos. Esta pode manifestar-se através de amplo espectro fenotípico, já sendo descritas mais de 180 manifestações clínicas asociadas. Frequências da deleção variando de 0% a 75% têm sido encontradas em diferentes estudos dependendo da manifestação primária escolhida, bem como do desenho do estudo e critérios de inclusão utilizados. Muitos estudos foram realizados com o propósito de definir quais pacientes deveriam ser triados para a deleção 22q11.2 em populações com distintas manifestações da mesma, visando uma abordagem com maior custo-efetividade, porém ainda hoje um consenso não foi atingido e a questão ainda é debatida. Até o presente momento, não existem estudos direcionados a definir, de maneira objetiva, qual ou quais destes dismorfismos sugestivos têm maior relevância durante a avaliação dismorfológica de indivíduos com diferentes manifestações do espectro da deleção. Com o objetivo de contribuir na definição de critérios clínicos e dismorfológicos que possam otimizar a indicação da realização de exame confirmatório, foram investigados 194 pacientes divididos em quatro grupos clínicos - Suspeita de deleção com alterações palatais {Grupo 1), suspeita de deleção sem alterações palatais (Grupo 11), malformações cardíacas associadas ao espectro da deleção 22ql1.2 {Grupo III) e indivíduos com dignóstico de esquizofrenia {Grupo IV). Todos foram testados para a deleção 22q11.2 por meio da técnica de Multiplex Ligant-Probe Amplification (MLPA). Para cada grupo, um checklist específico, incluindo dismorfismos e outras características clínicas, foi desenvolvido e aplicado. Pacientes do Grupo IV foram examinados independentemente por dois geneticistas clínicos, a fim de definir a presença de dismorfismos relacionados às síndromes de deleção 22ql1.2 (22q11.2DS) e a concordância na indicação de testes confirmatórios. A deleção 22q11.2 foi detectada em 45 pacientes {23,2%), assim distribuídos: 35/101 {34;7%) do Grupo I, 4/18 (22,2%) do Grupo 11, 6/52 {11,5%) do Grupo III e em nenhum indivíduo do Grupo IV. A taxa de concordância entre os dois observadores para indicação de exame confirmatório para o Grupo IV foi de 91,3%. Os dados clínicos foram analisados por distribuição de frequência e estatisticamente em cada um dos grupos e subgrupos. Cada grupo clínico foi discutido de forma independente e seus resultados comparados àqueles previamente descritos por outros pesquisadores. Sinais clínicos entre indivíduos com deleção e sem deleção foram comparados, sendo signifcantes para a suspeição das 22q11.2DS: face alongada (p<0,001), pálpebras "hooded" (p=0,015), nariz típico (p=0,041), conformação tubular do nariz (p=0,046) e hipoplasia alar (p=0,012). Os resultados demonstram objetivamente que algumas características dismórficas têm maior probabilidade de estarem associadas à presença da deleção 22q11.2. Baseados nos resultados obtidos e na revisão da literatura, é proposta uma abordagem sistemática para triagem de pacientes com manifestações distintas do espectro da deleção 22q11.2, visando uma melhor relação de custo-efetividade / Abstract: The 22q11.2 deletion is the most frequent intersticial deletion in the human species, occurring in approximately 1/4000 live births. It is associated with a wide phenotypic spectrum, with over 180 clinical manifestations already described. Distinct approaches have detected frequencies of the deletion ranging from 0% to 75%, depending on the primary manifestation of the studied population and selection criteria. Many studies have been conducted to define which patients would be eligible for screening for the 22q11.2 deletion, though so far the issue is still up for debate. To the best of our knowledge, no study has been directed towards objectively defining which suggestive dysmorphisms are relevant while evaluating individuals with distinct manife.stations of the 22q11.2 deletion syndromes (22q11.2DS) . In order to contribute to the delineation of possible clinical and dysmorphologic guidelines and to optimize decision to proceed with confirmatory testing, 194 individuals were evaluated. Group I- clinical suspicion of 22q11.2DS with palatal anomalies, Group II -clinical suspicion without palatal anomalies, Group Ill -cardiac malformations associated with the 22q11.2DS and Group IV- schizophrenic patients. All of them were evaluated and tested for the 22q11.2 deletion using Multiplex ligation-dependent probe amplification (M LPA). Group-specific checklists were developed to collect dysmorphologic and clinical data. Also, patients from Group IV were examinated independently by two clinical geneticists, in order to define the presence of suggestive 22ql1.2DS dysmorphisms and concordance rate in indication to proceed with laboratorial investigation. The 22q11.2 deletion was detected in 45 patients (23.2%), distributed as such: Group I 35/101 (34.7%), Group 114/18 (22.2%), Group Ill 6/52 (11.5%) and none from Group IV. Concordance of clinical features and indication of confirmatory test in Group IV by two examiners was 91.3%. Clinical data was analyzed by frequency and statistical tests. Each group was independently discussed and the results compared to those previously described by other researchers. Several independent dysmorphisms were compared between individuals with and without the 22q11.2 deletion, and a long face (p<0.001), hooded eyelids (p=0.015), a tubular conformation (p=0.046) or other forms of typical nose (p=0.041), and alar hypoplasia (p=0.012) were statiscally more likely to be found in patients that tested positive for the deletion. Conclusions: The results objectively demonstrate that some dysmorphic features have a higher probability of being correlated to the presence of the 22q11.2DS. Based on these results and the review of the literature, a systematic approach for screening patients with distinct manifestations of the 22ql1.2DS in a more cost-effective way is proposed / Mestrado / Genetica Medica / Mestra em Ciências Médicas

Evidence-based practice, whose roots emanate from the mid-1960s, aims to provide fair, high-quality, and soundly researched health care with patients' best interests as a priority. Clinical practice guidelines are evidence-based and designed to assist clinicians with sound decision making. Despite the importance of evidence-based practice and the efforts invested into its development and dissemination, its uptake and implementation are poor. The disconnect between evidence-based practice and its translation into clinical practice was previously reported in low-to-middle income countries. This study investigated South African audiologists' and otorhinolaryngologists' (ear, nose and throat specialists') self-reported orientation to evidence-based practice. Second, adherence to evidence-based clinical practice guidelines was assessed with reference to the diagnosis and management of benign paroxysmal positional vertigo, a common vestibular condition for which a firm evidence base supporting treatment exists. A two-part quantitative approach was adopted. Part one surveyed South African audiologists and otorhinolaryngologists with the Evidence-Based Practice Profile Questionnaire and an additional researcher-developed questionnaire pertaining to the diagnosis and management of benign paroxysmal positional vertigo. A total of 130 survey responses were included in this study. Independent sample t-tests, one-way ANOVAs and Fisher's Exact tests were used to analyse the survey data. Part two used a retrospective record review at a tertiary academic hospital in the Western Cape of South Africa. Medical folders of patients diagnosed with benign paroxysmal positional vertigo, between 2010 – 2018 (n = 80), were analysed. The diagnosis and management strategies were recorded and compared against a gold standard evidence based guideline for congruence. Descriptive statistics were used to analyse and understand the data. Survey scores showed a positive association between increased years of experience and healthcare professionals' knowledge (p = .008) and confidence (p = .003) in evidence-based practice. Otorhinolaryngologists might be more knowledgeable than audiologists in evidence-based practice due to their increased training and exposure to evidence-based practice in their specialising years. Findings from the retrospective record review suggested adherence to the clinical practice guidelines in the diagnosis and management of posterior semi circular canal benign paroxysmal positional vertigo. The study outcomes propose that evidence-based clinical practice guidelines developed in the Global North may not be appropriate for the different health contexts that exist in low-to-middle income South Africa (e.g., rural settings). However, the benign paroxysmal positional vertigo clinical practice guidelines were adhered to at a tertiary, academic hospital in Cape Town. The results also support the notion that increased exposure to evidence-based practice reinforces its approach. Outcomes from this study raise implications for the development and dissemination of context-appropriate, evidence-based clinical practice guidelines.

The absence of a practice guideline for peripheral artery disease (PAD) in the cardiology department creates differing practice preferences among providers, leading to deviations in practice among staff. Variations in practice can affect the quality of care that is provided to patients. This project was guided by research statements indicating that there was a difference in the screening approach for PAD among health practitioners at preimplementation and postimplementation and that an 85% compliance with the guideline would signify consistency in the provision of care. Rogers' theory of diffusion of innovations was used to facilitate the adoption of the guideline. This project helped close the gap between research (adoption of a guideline) and practice (compliance in the use of evidence in clinical practice). Using random medical record reviews and pretest-posttest design, the results of the project showed that patterns of using the PAD guideline in practice at preimplementation significantly differed compared to postimplementation. The rates of screening for the compliance of the PAD guideline showed approximately an eightfold increase. The adoption of the PAD guideline has implications for policy, because adopting the PAD guideline helped standardize the care, improve effectiveness of care in nursing practice, evaluate quality through use of research, and promote social change by improving patient outcomes.