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Cuidado da família ao idoso portador de doença crônica: análise do conceito na perspectiva da família / Family care to the elderly with chronic disease: concept analysis from the family\'s perspective.Lígia Carreira 20 October 2006 (has links)
O envelhecimento populacional vem sendo alvo de atenção no Brasil, uma vez que está ocorrendo um aumento significativo do número de idosos na população. Observa-se que juntamente com essa transição demográfica, ocorre a transição epidemiológica. A preocupação com doenças infecto-contagiosas perde lugar para a alta prevalência das doenças crônicas não-transmissíveis, e a população idosa é a mais acometida por essas doenças. Nesta situação, a família desempenha um papel fundamental na manutenção e controle da doença de seus membros, pois cabe a ela arcar com a continuidade do cuidado ao indivíduo no seu processo de viver. Assim, o estudo tem como objetivo construir um modelo conceitual de cuidado familiar ao idoso com condição crônica, com base nos significados construídos nas interações sociais, identificando, deste modo, como a família vivencia o processo de cuidar do idoso com condição crônica e interpretando os significados do cuidado familiar à este idoso. Utilizou-se como referencial metodológico a Teoria Fundamentada nos Dados e o referencial teórico do Interacionismo Simbólico. Participaram da pesquisa oito famílias de idosos com doença crônica não-transmissível. As famílias foram selecionadas a partir da Equipe de Saúde da Família 15 do município de Maringá-PR, sendo as mesmas acompanhadas no período de agosto de 2005 a maio de 2006. Para o desenvolvimento da pesquisa, utilizou-se como técnica de coleta de dados a observação participante, entrevistas e análise de documentos, realizadas nos domicílios das famílias. A participação em diferentes momentos da vida das famílias e seus membros idosos, bem como os depoimentos permitiram compreender a vivência do cuidado ao idoso com doença crônica, expressa através de conceitos desenvolvidos em três processos: A identificação da doença crônica do idoso, A convivência com a cronicidade da doença do idoso e Os serviços de saúde na vida das famílias. O primeiro processo é constituído por quatro categorias analíticas, sendo estas: A vivência das dificuldades na fase aguda da doença; O processo de adaptação; O reconhecimento da cronicidade da doença; e A perspectiva do futuro incerto. O segundo processo também é composto por quatro categorias: A presença do idoso independente na família; A vivência do cuidado ao idoso dependente; Estratégias utilizadas no cuidado do idoso; e Perceber-se vulnerável. O terceiro processo é formado por uma categoria analítica: O serviço público de saúde no cuidado ao idoso. A organização desse modelo teórico revelou que, na construção de significados sobre o viver e envelhecer com a presença da doença crônica, a capacidade funcional do idoso é um fator significativo e determinante no processo de cuidar e ser cuidado. / The population aging has turned into the target of attention in Brazil, since a significant increase of the number of the senior citizens is going on. It is observed that while the demographic transition happens, there is also the epidemiological transition. The concern with contagious diseases loses its position to the high prevalence of non-transmissible chronic diseases, and the elderly population is the most affected by those diseases. In this situation, the family has a fundamental role in the maintenance and control of the disease of its members, for it is the family duty to continue caring for the individual in the living process. Therefore, the present study aims to build a conceptual model of the care of the family towards the aged person in chronic condition, based on the meanings built in the social interactions, identifying, this way, how the family lives the process of caring for the elderly with chronic condition and interpreting the meanings of care of the family towards the elder. As a methodological reference the Grounded Theory and the theoretical reference of the Symbolic Interactionism were used. Eight families of senior people with non-transmissible chronic disease participated of the research. The families were selected through the Family Health Team 15 in Maringá, and they were followed from August 2005 through May 2006. For the evolution of the investigation, participant observation, interviews and documents analysis in the families\' residences were used as data gathering. The participation in different moments of the families and their seniors\' life, and also their testimonies permitted to understand the experience of caring for the elder with chronic disease, expressed through developed concepts in three processes: Identifying the chronic disease, Living with the chronicity of the disease and the Health services in the families\' life. The first process is constituted by four analytical categories. They are: Living the difficulties in the acute phase of the disease; The adjustment process; The recognition of the chronicity of the disease; and The perspective of an uncertain future. The second process is also formed by four categories: The presence of the independent aged in the family; The living of the care towards the dependent aged; Strategies used on the caring of the elder; and Perceiving oneself as vulnerable. The third process is formed by an analytical category: The health public service towards the caring for the elder. The organization of this theoretical model revealed that, in the construction of meanings about living and aging with the presence of a chronic disease, the capacity of the elder is a significant factor and it is determinant in the caring and being cared process.
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A pessoa com diabetes - do enfoque terapêutico ao existencial / The person with diabetes - of the therapeutic approach to the existencialAracely Díaz Oviedo 07 November 2007 (has links)
O presente estudo busca lançar luz ao significado de ser uma pessoa diabética sob a ótica de quem vivencia essa situação. Para tanto, dirigiu-se para as experiências vividas por essas pessoas, em seu conviver com a doença. Fundamentada no referencial teórico-metodológico da investigação fenomenológica, a pesquisa direcionou-se para essas pessoas, entrevistandoas e obtendo depoimentos à uma pergunta norteadora: \"O que é isto, ser uma pessoa diabética? Descreva para mim.\" Na busca pela subjetividade do existir dessas pessoas, o estudo propôs, assim, a um deslocamento de análise da diabetes sob a ótica de um fato para a de um fenômeno. A coleta de dados ocorreu na cidade de San Luis Potosí, no México,no Instituto Mexicano de Seguro Social \"Francisco Padrón Poyuo\", envolvendo pacientes que participavam de um grupo de apoio. A análise dos depoimentos foi realizada conforme o preconizado pelos fundamentos da fenomenologia, possibilitando a construção de categorias temáticas que apontaram para a essência do significado do conviver com a doença. Os resultados abrem perspectivas para transformações em várias esferas de assistência a essas pessoas, o que inclui o resgate da subjetividade, o repensar a formação dos profissionais de saúde e posturas mais efetivas de acolhimento e construção de políticas de saúde. / The present study aims to throw a light on the meaning of the diabetic person, from the standpoint of who lives that situation. Therefore, he went to look for the experiences these people, the living with the disease. Grounded in the theoretical - methodological reference of phenomenological research, the research looked at people the disease, and getting the interview narratives Blasting starting with a question: Could you describe for me What is this, to be a diabetic person?. In the quest for subjectivity to exist of these people, the study suggested, a movement analysis of the experiences of diabetes mellitus, from the standpoint of an event into a phenomenon. Obtaining the information was held in the city of San Luis Potosi, Mexico, the Mexican Institute of Social Security, \"Francisco Padron Poyou\" with patients participating in a support group. Data analysis was performed according to the fundamentals of phenomenology, there by enabling the construction of thematic categories that enabled get to the essence of the meaning of living with the disease. The findings offer prospects for change in several areas of assistance to these individuals, who allow the rescue of subjectivity, or rethink the training of health professionals as well as a more effective care and construction of health policies.
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O processo de comunicação médico/família/criança: a percepção de mães de crianças portadoras de doenças crônicas gravesRanzani, Priscila Moreci [UNESP] 28 August 2009 (has links) (PDF)
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ranzani_pm_me_botfm.pdf: 382771 bytes, checksum: 59f993e46d90b06ff512a86888818895 (MD5) / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / A comunicação de más notícias a familiares de crianças com doenças crônicas graves, é uma função difícil na prática médica, que tem influência direta no comportamento e bem-estar da criança e da família, determina a satisfação com os cuidados recebidos, o entendimento das informações médicas, a adesão a tratamentos, muitas vezes invasivos e dolorosos, e, em última instância, repercute no estado de saúde do paciente. Esta pesquisa teve por objetivo analisar a percepção e as opiniões de mães de crianças e adolescentes, portadores de doença orgânica crônica grave, em relação à comunicação com o médico, durante o acompanhamento no Hospital das Clínicas da Faculdade de Medicina de Botucatu – Unesp. Trata-se de estudo qualitativo-descritivo, em que se realizaram entrevistas individuais semi-estruturadas com seis mães, acompanhantes principais e responsáveis pelo cuidado de três crianças e três adolescentes. O material obtido foi analisado a partir da análise de conteúdo. As mães foram as principais interlocutoras no processo de comunicação com a equipe de saúde. Eram responsáveis por repassar as informações para os demais membros da família, inclusive a criança doente, para quem selecionavam as notícias. Os pais eram colocados e assumiam uma posição secundária, responsáveis por garantir o suporte financeiro, o cuidado da casa e dos outros filhos. As crianças e os adolescentes doentes pouco perguntavam ao médico, que, quando se dirigia a eles dava explicações sobre procedimentos e poucos detalhes do diagnóstico e prognóstico. Quanto à forma de informar, as mães preferiam que a notícia fosse dada de forma simples, clara e franca, em lugar reservado, em que pudessem expor opiniões e dúvidas, na presença de um acompanhante. O aspecto mais valorizado foi a necessidade de uma boa relação com o profissional, que conhecesse o caso... / Telling bad news to the family members of children who have severe chronic diseases is a hard task in medical practice. It also has a direct influence on the behavior and well-being of the children and their family. This determines the care received, the understanding of medical information, the treatment adherence – which is often invasive and painful –, as well as having repercussions on the patient’s health. Objective: This study had as an objective to analyze the perception and opinion of mothers of children and adolescents with severe chronic organic disease regarding the doctor’s telling about it while they were admitted at the hospital of Botucatu Medical School – São Paulo State University (UNESP). It is a qualitative descriptive study. Semi-structured individual interviews were conducted with six mothers who were the main companions and in charge of taking care of three children and three adolescents. The material collected was analyzed through content analysis. The mothers were the main interlocutors in the communication process with the health team, and they were in charge of letting the other family members know about the condition, including the sick child for whom the news would be selected. The fathers were put and assumed a secondary role by being responsible for the financial support, house management and the other children’s care. The sick children and adolescents would ask few questions to the doctor, who explained about the procedures and gave few details about the diagnoses and prognoses when they talked to the patients. As for the communication way the mothers would rather the news to be given in a simple, clear and sincere way in a private place where they could express their opinions and doubts having a companion with them. The most important factor was the need for a good relation with the professional who knew the case and had established a connection... (Complete abstract click electronic access below)
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Comparação entre o perfil dos pacientes de fibrose cística atendidos em dois hospitais de Porto AlegreRizzo, Laís Cristina January 2011 (has links)
Objetivo: Comparar o perfil dos pacientes com fibrose cística de dois centros de referência de Porto Alegre, Hospital São Lucas da Pontifícia Universidade Católica e Hospital da Criança Santo Antônio e correlacionar os pacientes como um grupo em relação a morbidade. Metodologia: Estudo transversal, retrospectivo, com 83 pacientes com diagnóstico de fibrose cística, idade entre um mês a dezoito anos. As variáveis analisadas pelos dois grupos foram: idade atual, idade diagnóstica, idade inicio dos sintomas, cor, número de exacerbações ao ano, internações no ano, internações na vida, idade dos pais, comprometimento pulmonar, comprometimento digestivo, íleo meconial, peso atual e ao diagnóstico, estatura atual e ao diagnóstico, colonização bacteriana em 2010, primeira colonização por Staphylococcus aureus (SA), primeira colonização por Pseudomonas aeruginosa (PSA), primeira colonização pelo Complexo Burkholderia cepacia (CBc), escore de Shwachman-Kulczycki (S-K), variáveis espirométricas, escore socioeconômico (CCEB), terapia medicamentosa, fisioterapia, distância percorrida no Teste de Caminhada dos 6 minutos (TC6M). As variáveis analisadas em conjunto foram: peso atual, estatura atual, colonização bacteriana, variáveis espirométricas, CCEB, S-K e TC6M, internações no ano de 2010 e exacerbações no ano de 2010. Resultados: As variáveis com diferença estatística entre centros foram: mais internações no ano no HCSA (p<0,001), mais internações na vida no HCSA (p<0,001), menor idade da primeira colonização por SA no HCSA (p=0,008), menor idade da mãe no HCSA (p=0,030), menor S-K no HCSA (p=0,001), menor escore sócioeconômico no HCSA (p=0,021), maior uso de dornase alfa no HCSA (p=0,003), maior uso de antibioticoterapia inalatória no HCSA (p=0,006), menor uso de solução salina hipertônica (SSH) no HCSA (p<0,001). As correlações significantes: TC6M com capacidade vital forçada e volume expiratório forçado no primeiro segundo e S-K (p=0,001, r=0,4), S-K com CCEB (p=0,02, r=0,3), CCEB com internações na vida (p=0,03, r=-0,3). Conclusão: Os centros estudados recebem uma população distinta de pacientes, tanto do ponto de vista sócioeconômico, como em relação à gravidade da doença, o que interfere na escolha da terapia medicamentosa utilizada. / Objective: To compare the profile of patients with cystic fibrosis in two reference centers in Porto Alegre, HSL-PUCRS and HCSA and to correlate the patients as a group in relation to morbidity. Methodology: Cross sectional, retrospective study, with 83 patients diagnosed with Cystic Fibrosis, aged one month to eighteen years. The variables analyzed in both groups were: current age, age of diagnosis, age onset of symptoms, color, number of exacerbations in 2010, hospitalizations in 2010 and lifetime hospitalizations, parental age, pulmonary and digestive impairment, meconium ileus, current and diagnosis weight , current and diagnosis stature, and bacterial colonization in 2010, the first SA colonization, the first PSA colonization, the first B. cepacia colonization, Shwachman-Kulczycki score (S-K), spirometric variables, socioeconomic score (CCEB), drug therapy, physiotherapy, walked distance of the Six-Minute Walk Test (6MWT). The variables analyzed together were: current weight and height, current bacterial colonization, spirometric variables, CCEB, SK and 6MWT, admissions in 2010 and exacerbations in the year 2010. Results: The variables with statistically significant differences between centers were more hospitalizations in 2010 in HCSA (p <0.001), more lifetime hospitalizations in the HCSA (p <0.001), lower age at first SA colonization in HCSA (p = 0.008), the youngest mother in the HCSA (p = 0.030), lower S-K in HCSA (p = 0.001), lower socioeconomic score in HCSA (p = 0.021), greater use of DNase in HCSA (p = 0.003), higher use of inhaled antibiotics in HCSA (p = 0.006), less use of hypertonic saline in HCSA (p <0.001). The significant correlations were: 6MWT with lung function and S-K (p = 0.001, r = 0.4), S-K with socioeconomic score (p = 0.02, r = 0.3), socioeconomic score with hospitaizations(p = 0.03, r =- 0.3). Conclusion: The study centers receive a distinct population of patients, both in terms of socioeconomic, as in the severity of the disease, which interferes with de choice of drug therapy used.
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Comparação entre o perfil dos pacientes de fibrose cística atendidos em dois hospitais de Porto AlegreRizzo, Laís Cristina January 2011 (has links)
Objetivo: Comparar o perfil dos pacientes com fibrose cística de dois centros de referência de Porto Alegre, Hospital São Lucas da Pontifícia Universidade Católica e Hospital da Criança Santo Antônio e correlacionar os pacientes como um grupo em relação a morbidade. Metodologia: Estudo transversal, retrospectivo, com 83 pacientes com diagnóstico de fibrose cística, idade entre um mês a dezoito anos. As variáveis analisadas pelos dois grupos foram: idade atual, idade diagnóstica, idade inicio dos sintomas, cor, número de exacerbações ao ano, internações no ano, internações na vida, idade dos pais, comprometimento pulmonar, comprometimento digestivo, íleo meconial, peso atual e ao diagnóstico, estatura atual e ao diagnóstico, colonização bacteriana em 2010, primeira colonização por Staphylococcus aureus (SA), primeira colonização por Pseudomonas aeruginosa (PSA), primeira colonização pelo Complexo Burkholderia cepacia (CBc), escore de Shwachman-Kulczycki (S-K), variáveis espirométricas, escore socioeconômico (CCEB), terapia medicamentosa, fisioterapia, distância percorrida no Teste de Caminhada dos 6 minutos (TC6M). As variáveis analisadas em conjunto foram: peso atual, estatura atual, colonização bacteriana, variáveis espirométricas, CCEB, S-K e TC6M, internações no ano de 2010 e exacerbações no ano de 2010. Resultados: As variáveis com diferença estatística entre centros foram: mais internações no ano no HCSA (p<0,001), mais internações na vida no HCSA (p<0,001), menor idade da primeira colonização por SA no HCSA (p=0,008), menor idade da mãe no HCSA (p=0,030), menor S-K no HCSA (p=0,001), menor escore sócioeconômico no HCSA (p=0,021), maior uso de dornase alfa no HCSA (p=0,003), maior uso de antibioticoterapia inalatória no HCSA (p=0,006), menor uso de solução salina hipertônica (SSH) no HCSA (p<0,001). As correlações significantes: TC6M com capacidade vital forçada e volume expiratório forçado no primeiro segundo e S-K (p=0,001, r=0,4), S-K com CCEB (p=0,02, r=0,3), CCEB com internações na vida (p=0,03, r=-0,3). Conclusão: Os centros estudados recebem uma população distinta de pacientes, tanto do ponto de vista sócioeconômico, como em relação à gravidade da doença, o que interfere na escolha da terapia medicamentosa utilizada. / Objective: To compare the profile of patients with cystic fibrosis in two reference centers in Porto Alegre, HSL-PUCRS and HCSA and to correlate the patients as a group in relation to morbidity. Methodology: Cross sectional, retrospective study, with 83 patients diagnosed with Cystic Fibrosis, aged one month to eighteen years. The variables analyzed in both groups were: current age, age of diagnosis, age onset of symptoms, color, number of exacerbations in 2010, hospitalizations in 2010 and lifetime hospitalizations, parental age, pulmonary and digestive impairment, meconium ileus, current and diagnosis weight , current and diagnosis stature, and bacterial colonization in 2010, the first SA colonization, the first PSA colonization, the first B. cepacia colonization, Shwachman-Kulczycki score (S-K), spirometric variables, socioeconomic score (CCEB), drug therapy, physiotherapy, walked distance of the Six-Minute Walk Test (6MWT). The variables analyzed together were: current weight and height, current bacterial colonization, spirometric variables, CCEB, SK and 6MWT, admissions in 2010 and exacerbations in the year 2010. Results: The variables with statistically significant differences between centers were more hospitalizations in 2010 in HCSA (p <0.001), more lifetime hospitalizations in the HCSA (p <0.001), lower age at first SA colonization in HCSA (p = 0.008), the youngest mother in the HCSA (p = 0.030), lower S-K in HCSA (p = 0.001), lower socioeconomic score in HCSA (p = 0.021), greater use of DNase in HCSA (p = 0.003), higher use of inhaled antibiotics in HCSA (p = 0.006), less use of hypertonic saline in HCSA (p <0.001). The significant correlations were: 6MWT with lung function and S-K (p = 0.001, r = 0.4), S-K with socioeconomic score (p = 0.02, r = 0.3), socioeconomic score with hospitaizations(p = 0.03, r =- 0.3). Conclusion: The study centers receive a distinct population of patients, both in terms of socioeconomic, as in the severity of the disease, which interferes with de choice of drug therapy used.
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Adaptação cultural do family management measure para famílias de crianças portadoras de doenças crônicas / Cultural adaptation of family management measure for families of children with chronic illnessCarolliny Rossi de Faria Ichikawa 06 February 2012 (has links)
Este estudo teve como objetivos realizar a adaptação cultural do Family Management Measure (FaMM) para a língua portuguesa do Brasil; avaliar a confiabilidade da versão adaptada do Family Management Measure (FaMM) verificando a consistência interna de seus itens em amostra de família de crianças e adolescentes com doença crônica. Na realidade brasileira, não se localizou qualquer outro instrumento que tivesse objetivos iguais, nem semelhantes aos propostos pelo FaMM, além de haver uma lacuna no que diz respeito à maneira como a família maneja a situação de doença crônica da criança. Consiste de um estudo metodológico com abordagem quantitativa a fim de alcançar os objetivos propostos, seguindo as seguintes etapas: tradução, adaptação transcultural do Family Management Measure para o português e validação das propriedades de medida do instrumento adaptado. Para tanto, utilizou-se a metodologia proposta por Guillemin para tradução e adaptação transcultural de instrumentos (Guillemin 1993, 2002), composta pelo seguinte processo: permissão dos autores para a adaptação transcultural e validação do Family Management Measure (FaMM); tradução para língua portuguesa do Family Management Measure; obtenção do primeiro consenso das versões traduzidas; avaliação pelo Comitê de Especialistas; retrotradução - (Back translation); pré-teste; tratamentos dos dados. A população da pesquisa foi composta por 72 famílias de crianças e adolescentes com doenças crônicas em atendimento em um ambulatório de especialidades de hospital-escola público no município de Londrina. A confiabilidade interna medida através do Alfa de Cronbach foi de 0,8660 para o instrumento todo e variou de 0,4430 a 0,7908 entre as dimensões do instrumento. Houve a eliminação do item 35 da dimensão Esforço de manejo. Concluiu-se que o Family Management Measure (FaMM) apresenta-se adaptado para a língua portuguesa do Brasil e recomenda-se a realização de outros estudos junto a outros familiares de crianças. / This study aimed to realize the cultural adaptation of the Family Management Measure (FaMM) for the Portuguese language of Brazil, to evaluate the reliability of the adapted version of the Family Management Measure (FaMM) by verifying the internal consistency of the items from a family sample of children and adolescents with a chronic disease. In Brazil, no other instrument having the same goals was located, nor were any similar to those proposed by FaMM, moreover there is a gap regarding how the family handles the child\'s chronic illness. This was a methodological study with a quantitative approach attempting to achieve the proposed objectives, following these steps: translation and cultural adaptation of the Family Management Measure to Portuguese; validation of the measurement properties of the adapted instrument. For this purpose, the methodology proposed by Guillemin was used for the translation and the cultural adaptation of instruments (Guillemin 1993, 2002) consisting of the following process: Permission of the authors for the cultural adaptation and validation of the Family Management Measure (FaMM) Translation into Portuguese the Family Management Measure; Obtaining the consent of the first translated versions; Evaluation Committee of Experts; Retro-translation - (Back translation); Pre-test; Treatment of the data. The study population consisted of 72 families with children and adolescents who have chronic diseases being attended in specialty outpatient clinic in a public teaching hospital in Londrina. The internal reliability measured with Cronbach\'s alpha was 0.8660 for the entire instrument and varied from 0.4430 to 0.7908 between the dimensions of the instrument. There was an elimination of item 35 in the dimension \"Stress management. It can be concluded that the Family Management Measure (FaMM) appears to adapt well to the Portuguese language in Brazil and it is recommended that further studies be performed with other families with children.
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Evaluation of Chronic Disease Screening Programs in a Community PharmacyAhmad, Rana, Velarde, Michelle, Yampolsky, Theresa January 2005 (has links)
Class of 2005 Abstract / Objectives: To evaluate the benefits of asthma and diabetes screening services at community pharmacies and determine patient satisfaction and willingness to pay.
Methods: ASTHMA: A retrospective analysis of 342 patients were given one of two asthma screening surveys, based on whether or not they had asthma, which assessed asthma-related symptoms, associated conditions, family and social history, and the use of asthma medications. Peak flow measurements were also obtained and compared to predicted peak flow values. Based on these results, pharmacists referred patients to their physician or the emergency department if necessary.
DIABETES: A retrospective analysis of 402 patients participated in diabetes screenings at Bashas’ United Drugs. Patients were given a questionnaire to complete, which included questions about diabetes diagnosis, related symptoms, and medication use. Level of control was measured by a fasting or casual finger-stick blood glucose test. Based on these results, pharmacists referred patients to their physician or the emergency department if necessary.
PATIENT SATISFACTION: This is a retrospective analysis of patient satisfaction surveys collected from patients who volunteered to participate in asthma and diabetes screenings a t Bashas’ United Drugs stores. A total of 189 satisfaction surveys were collected, 73 from asthma screenings and 96 from diabetes screenings were used to evaluate patient awareness of pharmacist-run screening services, perception of pharmacist knowledge and ability to monitor health conditions, and willingness to pay for the screening services. Mean scores are based on Likert scaled data (1 = strongly disagree to 5 = strongly agree).
Implications: The findings in this study suggest that community pharmacists play an essential role in the management of patients with asthma and diabetes. This study found community pharmacists are well trusted for their advice regarding medications, and would be receptive to other health related advice from their pharmacist. Respondents strongly agreed they would recommend this screening service to other patients and would be willing to pay for these services.
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Exploring potential functional variants in the Alzheimer's disease associated genes, CD2AP, EPHA1 and CD33Braae, Anne January 2016 (has links)
Little is known about the molecular biology of late onset Alzheimer’s disease (LOAD), the most common dementia in the elderly. Genetic loci associated with LOAD have been identified through genome-wide association studies (GWAS). However, the functional variants responsible for the observed GWAS association at each of the loci remain unknown. The aim of this project was to identify and assess potential functional rare variants at three associated loci, CD2AP, EPHA1 and CD33. Target enriched, pooled sequencing of 96 post-mortem confirmed LOAD patient samples was used to identify 1273 variants within the three GWAS loci. Variants were prioritised using a combination of in silico functional annotation and putative disease association. Disease association was assessed through comparison to an independent, imputed LOAD GWAS dataset (2067 cases, 7376 controls). 18 coding and untranslated region variants and 9 noncoding variants were prioritised for further investigation. Potential splicing variants in CD2AP (6:47544253A > G) and EPHA1 (rs6967117) were assessed using minigene assays, although neither were found to influence splicing products in vivo. Five untranslated variants from the three genes and a frameshift variant in CD33 (rs201074739) were assessed for potential cis-regulatory consequences using allelic expression imbalance in brain tissues and B-lymphoblast cell lines. Only the frameshift variant displayed significant allelic expression imbalance and was found to be targeted for nonsense-mediated decay. None of the prioritised variants investigated were both functional and significantly associated with LOAD. However, pooled next generation sequencing using target enrichment successfully identified potential functional rare variants in CD2AP, EPHA1 and CD33. Rare variants do have a role to play in late onset Alzheimer’s disease. With the development of additional functional databases and improvements imputing rare variants from GWAS datasets, the combined prioritisation strategy used in this thesis will be useful for similar studies investigating causal GWAS variants.
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A Population-based Evaluation of the Delivery of Care for People Living with HIV in OntarioKendall, Claire Elizabeth January 2015 (has links)
Background: Health care needs to evolve to meet the needs of people living with HIV as they age and become a more diverse population. For HIV and other conditions, physician specialty and experience are often positively associated with disease-specific outcomes but negatively associated with primary care outcomes. The objectives of this thesis were to: 1) assess comorbidity prevalence among people living with HIV in Ontario; 2) describe the type and extent of care by physician specialty; 3) use a theoretical shared primary/specialist care typology to characterize this care; 4) measure the quality of care delivered related to this typology; and 5) assess the independent effect of family physician HIV experience.
Methods: Population-based data were used to describe a cohort of 14,282 individuals living with HIV in Ontario. Health care visits to this cohort were categorized by physician specialty, physician HIV experience, and HIV-related versus HIV-unrelated care. A theoretically-based typology of care was developed by linking patients to usual family physicians and to HIV specialists with 5 possible patterns of care. Prevention and chronic disease management adherence, antiretroviral (ART) prescribing, and health care utilization were compared across typology models using multivariable hierarchical logistic regression analyses. The independent effect of family physician experience was also examined.
Results: People with HIV had significant comorbidity. Family physicians provided the majority of care. Five patterns of care were described: exclusively primary care (45.4%); specialist-dominated co-management (30.7%); family physician-dominated co-management (10.1%); low engagement (8.6%); and exclusively specialist care (5.3%). After adjustment, HIV patients in exclusively specialist care had lower odds of colorectal cancer screening but higher odds of receiving ART. Odds of having an emergency department visit did not differ among models. Among HIV patients seeing only family physicians, those linked to family physicians with high HIV experience were significantly more likely to receive ART than those with lower HIV experience.
Discussion: People with HIV in Ontario have substantial comorbidity. A typology of shared care between family physicians and HIV specialists had a strong influence on the quality of care delivered. These findings have important policy and practice implications and support emerging evidence that multi-specialty expertise is required to address the care needs of this population.
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Development of an integrated, evidence-based management model for chronic non-communicable diseases and their risk factors, in a rural area of Limpopo Province, South AfricaMaimela, Eric January 2016 (has links)
Thesis(Ph.D.(Medical Science)) -- University of Limpopo, 2016 / Background: Chronic disease management (CDM) is an approach to health care that keeps people as healthy as possible through the prevention, early detection and management of chronic diseases. This approach offers holistic and comprehensive care, with a focus on rehabilitation, to achieve the highest level of independence possible for individuals.The aim of this study was to develop an integrated, evidence-based model for the management of chronic non-communicable diseases in a rural community of the Limpopo Province, South Africa.
Methods: The study was conducted at Dikgale Health and Demographic Surveillance System (HDSS) site is situated in Capricorn District of Limpopo Province in South Africa. This study followed mixed methods methodology with an aim on integrating quantitative and qualitative data collection and analysis in a single study to develop an intervention program in a form of model to improve management of chronic diseases in a rural area. Therefore, this included literature review and WHO STEPwise approach to surveillance of NCD risk factors for quantitative techniques and focus group discussions, semi-structures interviews and quality circles for qualitative techniques. In the surveillance of NCD risk factors standardised international protocols were used to assess behavioural risk factors (smoking, alcohol consumption, fruit and vegetable consumption, physical activity) and physical characteristics (weight, height, waist and hip circumferences, and blood pressure). A purposive sampling method was used for qualitative research to determine knowledge, experience and barriers to chronic disease management in respect of patients, nurses, community health workers (CHWs), traditional health practitioners (THPs) and managers of chronic disease programmes. Data were analysed using STATA 12 for Windows, INVIVO and Excel Spreadsheets.
Results: The study revealed that epidemiological transition is occurring in Dikgale HDSS. This rural area already demonstrates a high burden of risk factors for non-communicable diseases, especially smoking, alcohol consumption, low fruit and vegetable intake, physical inactivity, overweight and obesity, hypertension and dyslipidaemia, which can lead to cardiovascular diseases. The barriers mostly mentioned by the nurses, patients with chronic disease, CHWs and THPs include lack of knowledge of NCDs, shortages of medication and shortages of nurses in the clinics which cause patients to stay for long periods of time in a clinic. Lack of training on the management of chronic diseases, supervision by the district and provincial health managers, together with poor dissemination of guidelines, were contributing factors to lack of knowledge of NCDs management among nurses and CHWs. THPs revealed that cultural insensitivity on the part of nurses (disrespect) makes them unwilling to collaborate with the nurses in health service delivery.
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The model developed in this study which was the main aim of the study describes four interacting system components which are health care providers, health care system, community partners and patients with their families. The main feature of this model is the integration of services from nurses, CHWs and THPs including a well-established clinical information system for health care providers to have better informed patient care. The developed model also has an intervention such as establishment of community ambassadors.
Conclusion: Substantially high levels of the various risk factors for NCDs among adults in the Dikgale HDSS suggest an urgent need for adopting healthy life style modifications and the development of an integrated chronic care model. This highlights the need for health interventions that are aimed at controling risk factors at the population level in order to slow the progress of the coming non-communicable disease epidemic. Our study highlights the need for health interventions that aim to control risk factors at the population level, the need for availability of NCD-trained nurses, functional equipment and medication and a need to improve the link with traditional healers and integrate their services in order to facilitate early detection and management of chronic diseases in the community. The developed model will serve as a contribution to the improvement of NCD management in rural areas. Lastly, concerted action is needed to strengthen the delivery of essential health services in a health care system based on this model which will be tasked to organize health care in the rural area to improve management and prevention of chronic illnesses. Support systems in a form of supervisory visits to clinics, provision of medical equipments and training of health care providers should be provided. Contribution from community partners in a form of better leadership to mobilise and coordinate resources for chronic care is emphasized in the model. This productive interaction will be supported by the district and provincial Health Departments through re-organization of health services to give traditional leaders a role to take part in leadership to improve community participation. / Medical Science Department, University of Limpopo in South Africa,International Health Unit, and Antwerp University
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