Alzheimer’s disease (AD) is the commonest form of dementia and is characterised with neuropathological hallmarks such as aggregated amyloid plaques and hyper-phosphorylated tau protein. One type of AD is autosomal dominant AD (ADAD) which is caused by highly penetrant variants in one of three genes (APP, PSEN1 and PSEN2), other cases of AD are described as sporadic and can have a late onset of disease symptoms (> 65 years of age) or early onset (≤ 65 years or age). Late-onset Alzheimer’s disease (LOAD) is estimated to be 70% heritable and is common. Conversely sporadic early-onset Alzheimer’s disease (sEOAD) is estimated to 90% heritable but is relatively rare. The difference in prevalence between the two types of AD has resulted in genome wide association studies focusing on LOAD with sEOAD receiving little attention. Here we use an Illumina human exome genotyping chip customised with neurodegenerative markers (NeuroX) to genotype the coding region of sEOAD samples in a hope to elucidate the genetic aetiology of sEOAD. Sanger sequencing exons 16 and 17 of APP was conducted in a sEOAD cohort (n=451) to screen for variants known to cause ADAD; 9% (n=4) of the cohort were heterozygous for known causative variants and where subsequently removed from the sEOAD NeuroX genotyping data before analyses. Screening also highlighted an intronic 6bp deletion downstream of exon 17 in APP with a non-significant increased minor allele frequency (MAF) in sEOAD, however it did not appear to influence splicing of exon 17. Screening the sEOAD cohort for other variants known to cause neurodegenerative disease was conducted using the NeuroX genotyping data (n=408) which identified two samples with variants in PARK2, these variants are thought to contribute susceptibility to Parkinson’s disease (PD) suggesting these variants might elicit risk for multiple diseases. A further study with increased power would ascertain if the 6bp deletion and PARK2 variants are associated with sEOAD. Statistical analyses of the sEOAD NeuroX genotypes highlighted many variants, genes and pathways that could be contributing to susceptibility to disease; however no tests reached significance after adjusting for multiple testing. The genes most associated (PDZK1, DCLK3, SLC33A1 and BLOC1S2) appear to be biologically relevant and would be ideal candidates for further study. Additionally, just under half of the variants that are significant associated with LOAD were genotyped on the NeuroX and two of these were significantly associated with sEOAD after correcting for multiple testing (rs3851179 and rs3764650). The genotypes of all the variants highlighted would need to be verified before their functionalities were investigated further.

Considerando a espiritualidade como parte do conceito de saúde do indivíduo e suas repercussões no viver a doença crônica, realizou-se o presente estudo. Trata-se de um estudo exploratório, com metodologia quanti-qualitativa que teve como objetivo principal identificar e compreender o papel da espiritualidade no manejo da doença crônica do idoso. Procurou-se ainda conhecer o perfil dos idosos participantes do estudo, as mudanças de vida ocasionadas pelo diagnóstico da doença crônica e a compreensão de como a religião/espiritualidade/fé interfere neste processo. O método da análise de conteúdo de Bardin foi escolhido para interpretação dos discursos. O estudo foi realizado com 20 idosos portadores de doença crônica atendidos no Instituto Paulista de Geriatria e Gerontologia José Ermírio de Moraes (IPGG), instituição que tem como missão promover o envelhecimento saudável e a integração social do idoso. A coleta de dados foi realizada em outubro de 2010, através de entrevistas semiestruturadas. Os idosos possuíam entre 60 e 81 anos, sendo 65% mulheres e 35% homens, 65% casados, 20% viúvos e 15% divorciados. Quanto à ocupação, 80% são aposentados, 10% do lar/donas de casa, 10% estão ativos no mercado de trabalho. Com relação às condições de moradia, 85% residem em casa própria, 10% em casas de familiares e 5% em casa alugada, 50% residem com cônjuge e filhos ou netos, 35% apenas com cônjuge, 10% moram sozinhos e 5% apenas com filho. Quando questionados quanto às crenças religiosas, todos os participantes referiram pertencer a uma doutrina religiosa e dentre as religiões 75% declarou-se católico, 20% evangélico e 5% espírita. A doença crônica mais prevalente foi a Hipertensão Arterial Sistêmica (HAS), referida por 45% dos participantes, seguida do diabetes mellitus, presente em 35% dos idosos. A análise dos discursos resultou nos seguintes temas centrais: impacto multidimensional da doença crônica, enfrentamento e expectativas dos idosos. Na análise do impacto multidimensional da doença crônica, identificaram-se as seguintes unidades temáticas: impacto no estilo de vida, impacto emocional e impacto socioeconômico. Com relação ao enfrentamento da doença crônica, foram analisados o enfrentamento individual, o suporte social e a espiritualidade/religiosidade/fé. Quanto às expectativas, as unidades temáticas identificadas foram expectativas quanto à saúde e quanto ao sentido da vida. Os resultados evidenciaram as mudanças trazidas pelo diagnóstico da doença crônica e suas implicações na adaptação ao novo modo de vida. O manejo destas alterações é complexo e diversos fatores influenciam positivamente e negativamente no modo de lidar com a nova condição. Os resultados mostraram que a espiritualidade/religiosidade/fé interfere de maneira positiva no enfrentamento dos obstáculos e dificuldades da vida, fortalece a resiliência do paciente, melhorando assim, sua qualidade de vida. Para que o manejo da doença crônica seja bem sucedido, o profissional de saúde atuante na assistência ao idoso portador de doença crônica deve ter a sensibilidade de compreender o idoso dentro de seu contexto cultural e fortalecer o entendimento e responsabilização do paciente quanto a sua condição crônica. / This study was carried out considering spirituality as part of the concept of health and its impacts on living with a chronic disease. It is an exploratory study with quanti-qualitative methodology that aimed to identify and understand the role of spirituality in the management of chronic disease of the elderly, by identifying the profile of individual participating in the study, the life changes caused by diagnosis of chronic disease and how religion/spirituality/faith interferes in this process. The technique of contents analysis of Bardin was chosen for the interpretation of discourse. The study was conducted with 20 elderly patients with chronic disease treated at the Instituto Paulista de Geriatria e Gerontologia José Ermírio de Moraes (IPGG), an institution whose mission is to promote healthy aging and social integration of the elderly. Data collection was conduted in October 2010, through semi-structured interviews. The elderly had between 60 and 81 years, being 65% women and 35% men, 65% married, 20% widowed and 15% divorced. As to occupation, 80% are retired, 10% housewives, 10% are active in the labor market. About the conditions of living, 85% live in their own home, 10% in relatives house and 5% in rented accommodation, 50% live with spouse and children or grandchildren, 35% with spouse, 10% living alone and 5% living with children. When asked about their religious beliefs, all participants reported belonging to a religious doctrine, 75% declared themselves Catholic, 20% Protestant and 5% Spiritualist. The most prevalent chronic disease was High Blood Pressure, reported by 45% of the respondents, followed by Diabetes, present in 35% of the elderly. The discourse analysis resulted in the following themes: the multidimensional impact of chronic disease, coping and expectations of the elderly. In the analysis of the multidimensional impact of chronic disease, we identified the following thematic units: impact on lifestyle, emotional impact and economic impact. When regarding to coping with chronic illness, we analyzed the individual coping, social support and spirituality/ religion/ faith. As for expectations, thematic units identified were expectations about health and expectations about the meaning of life. The results demonstrate the changes brought by the diagnosis of chronic disease and its implications for adaptation to the new way of life. Management of these changes is complex and many factors influence both positively and negatively in dealing with the new condition. The results show that spirituality/religion/faith interferes positively in addressing the obstacles and difficulties of life, strengthen the resilience of the patient, thus improving their quality of life. For chronic disease management to be successful, health professionals active in assistance of the elderly with chronic illness should have the sensitivity to understand the elderly within their cultural context and strengthen their understanding and their accountability about the chronic condition.

No description available.

Introducción: Perú tiene una gran población carcelaria de aproximadamente setenta y seis mil ciento ochenta internos (76 180). Las principales morbilidades de esta población son una alta prevalencia de enfermedades crónicas como el cáncer, la diabetes, la hipertensión, la enfermedad pulmonar crónica, la ansiedad y la depresión. La falta de actividad física durante el encarcelamiento es uno de los principales factores de riesgo que aumentan el riesgo de desarrollar o empeorar los síntomas de estas enfermedades crónicas. Objetivo: Comparar la prevalencia de práctica deportiva según el autorreporte de enfermedades crónicas de la población penitenciaria del Perú. Materiales y método: Estudio de tipo trasversal , diseño analítico con base secundaria del primer Censo Nacional Penitenciario realizado por el Instituto Nacional de Estadística e Informática (INEI) 2016. Resultado: Las enfermedades crónicas como pulmonares, la diabetes, la ansiedad, el cáncer, la hipertensión arterial (HTA) y la depresión se asociaron estadísticamente con la actividad física (p <0,001). El modelo de Poisson ajustado mostró que los reclusos que se autorreportan enfermedades pulmonares crónicas, diabetes, HTA y cáncer se asociaron con una menor probabilidad de practicar deportes. Sin embargo, los reclusos que se auto-reportaron depresión se asociaron con una mayor probabilidad de practicar deportes. Conclusiones: Las enfermedades crónicas autorreportadas se asociaron con la falta de práctica deportiva. Es muy importante implementar programas de salud que promuevan actividades deportivas de acuerdo con la situación de salud de los internos. / Introduction: Peru has a large prison population of roughly seventy-six thousand and one hundred eighty inmates (76 180). The mains morbidities of this population is a high prevalence of chronic diseases such as cancer, diabetes, hypertension, chronic pulmonary disease, anxiety, and depression. The lack of physical activity during imprisonment is one of the main risk factors that increase the risk of developing or worsening the symptoms of these chronic diseases. Objective: To compare sports practicing prevalence and the self-reporting of chronic diseases among the prison population in Peru. Materials and Method: We did a cross-sectional study using the first National Prison Census database (2016) of the National Institute of Statistics and Information, and we performed a Poisson regression model to determine the factors associated with sports practice. Results: Chronic diseases such as pulmonary failures, diabetes, anxiety, cancer, high blood pressure (HBP) and depression were statistically associated with physical activity (p< 0,001). The adjusted Poisson model showed that inmates that self-report with depression who self-report chronic pulmonary diseases, diabetes, HBP and cancer were associated with less probability of practicing sports. However, inmates who self-report depression were associated with more probability of practicing sports. Conclusion: Self-reporting chronic diseases were associated with lack of practice sports. It is very important to implement health programs that promote sports activities according to inmates health situation. / Tesis

Illness. A secret. Feeling alone? Have you ever kept a secret? A life-changing secret that keeps you secluded, isolated, and contained in a bubble, lonely and empty? The daily struggle of coping with your own secret, yet feeling like everyone you come in contact with already knows, takes its toll in the lives of those who carry the burden of a chronic disease. While dealing with judgmental thoughts, and the scrutinizing gaze from others, do we think that the stigma of a medical diagnosis affects our ability to love someone? More specifically, how about being capable of allowing someone to love you knowing that you are HIV positive? In We Were Here, the choreographic research speaks directly to the topic of secrecy and isolation through song, dance, poetry, and videography of people living with life-threatening diseases in today’s society. This piece will take the audience on a short journey through the lives of seven individuals who seek to find peace and understanding in revealing their conditions to their family, friends and loved ones. In seven different journeys, through the highs and lows of coping with a chronic disease, the silver lining of WE WERE HERE, provides a friendly reminder that everyone needs somebody, sometimes.

Increased risk for chronic disease is closely associated with individual nutrition, tobacco use, and physical inactivity. This thesis focuses on physical activity as a means of preventing select chronic diseases. A major barrier preventing engagement in physical activity is the built environment. Populations residing in rural environment are not afforded the abundance of opportunities for physical activity prevalent in most urban networks. Of the demographic living in rural environments, individuals with disability face additional barriers to physical activity than those without disability. This leads to a higher prevalence of chronic diseases associated with sedentary lifestyles among populations with disability. Few studies address the correlation between physical activity, chronic disease, and the built environment as they relate to individuals with disability. This thesis utilized independent samples t tests to evaluate variation among physical activity levels and the prevalence of chronic disease. In the first paper, four research objectives defined the parameters for comparison: (1) physical activity for individuals with disability in rural versus urban environments; (2) physical activity in rural environments for individuals with and without disability; (3) prevalence of chronic disease for individuals with disability in rural versus urban areas; and (4) prevalence of chronic disease in rural environments for individuals with and without disability. The four research objectives of the second paper are: (1) rural and urban physical activity comparison for the highest disability classification; (2) rural and urban physical activity comparison for individuals with disability using equipment; (3) rural and urban physical activity comparison for individuals with disability resulting from physical, mental, or emotional impairments; and (4) rural and urban physical activity comparison for individuals not reporting disability. The 2011 Behavioral Risk Factor Surveillance System (BRFSS) provided the data used to evaluate the correlation between these variables. The results of both studies indicate important statistical significance relating the rural built environment to lower levels of physical activity for individuals with disability. The varied statistical significance and small effect sizes, however, were contrary to the hypothesis and warrants further exploration of the complex relationship regarding the built environment, physical activity, and chronic disease.

This study is research into Invisible Chronic Illness (ICI): illness that cannot be seen by another, but that can have a major, sometimes catastrophic, effect on the lives of people concerned, especially their working lives. Each chapter deals, in some detail,with certain aspects of chronic illnesses that cannot be readily seen. The research is argued to be a vital excavation - a recognition of authentic and previously unheard voices and a methodology of primary value in researching the incommensurable, the difficult, the nasty in organisational life / Doctor of Philosophy (PhD)

<p>Vilka psykologiska processer som gör att vissa individer klarar sig bättre än andra i påfrestande situationer har väckt allt större intresse hos forskarna. Syftet med den här studien var att undersöka vilken betydelse socialt stöd har för anpassningen till kronisk reumatisk sjukdom. Studien utfördes i form av tolv halvstrukturerade intervjuer. Analys av materialet som helhet antydde att intervjupersonerna ansåg att socialt stöd från omgivningen hade hjälpt dem att anpassa sig till sjukdomen. Vården, i form av bland annat läkare, framstod som ett särskilt viktigt socialt stöd. Även stödet från andra individer med liknande sjukdom lyftes fram som betydelsefull. Den största anpassningen till sjukdomen verkar ske de första åren, men tycks också därefter pågå fortlöpande.</p>

<p>Phenylketonuria (PKU) is an inborn, metabolic disease affecting the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Since 1965, all Swedish patients are treated with a diet from the neonatal period, while patients without treatment become severely mentally retarded. This thesis presents a recent survey of intelligence, adjustment, and coping among Swedish patients with PKU aged 8-19 years. In Study I the patients’ blood phenylalanine level was in accordance with treatment norms and they were normal in terms of intelligence and adjustment. The next study was a comparison of adjustment between patients with PKU, patients with neurobehavioral disorders, and patients with obesity. A reference group with matched non-clinical children was included. In this comparison, patients with PKU did not differ from the healthy children. Patients with neurobehavioral disorders were the least adjusted, and patients with obesity differed from the reference group and from patients with PKU in some respects, indicating less work capacity and internalising problems. Study II was undertaken for methodological reasons and showed that the measure of adjustment was reliable and valid. Study III was an investigation of psychological mechanisms associated with adherence to the dietetic therapy in PKU. The results showed that parents’ problem-focused coping was the main factor behind good adherence. A marked transition to self-care was recommended to enhance the patients’ motivation to continue with the diet into adulthood. This thesis concludes that the good outcome among the Swedish patients is due to general improvement of the treatment, but a contributing factor can be the high and fairly equal standards of living in the Swedish society.</p>

Phenylketonuria (PKU) is an inborn, metabolic disease affecting the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Since 1965, all Swedish patients are treated with a diet from the neonatal period, while patients without treatment become severely mentally retarded. This thesis presents a recent survey of intelligence, adjustment, and coping among Swedish patients with PKU aged 8-19 years. In Study I the patients’ blood phenylalanine level was in accordance with treatment norms and they were normal in terms of intelligence and adjustment. The next study was a comparison of adjustment between patients with PKU, patients with neurobehavioral disorders, and patients with obesity. A reference group with matched non-clinical children was included. In this comparison, patients with PKU did not differ from the healthy children. Patients with neurobehavioral disorders were the least adjusted, and patients with obesity differed from the reference group and from patients with PKU in some respects, indicating less work capacity and internalising problems. Study II was undertaken for methodological reasons and showed that the measure of adjustment was reliable and valid. Study III was an investigation of psychological mechanisms associated with adherence to the dietetic therapy in PKU. The results showed that parents’ problem-focused coping was the main factor behind good adherence. A marked transition to self-care was recommended to enhance the patients’ motivation to continue with the diet into adulthood. This thesis concludes that the good outcome among the Swedish patients is due to general improvement of the treatment, but a contributing factor can be the high and fairly equal standards of living in the Swedish society.