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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
281

Utilisation de l'apprentissage moteur implicite comme outil thérapeutique chez les personnes âgées fragiles / The implicit motor learning use as a therapeutic tool in frail elderly people

Bourrelier, Julien 04 October 2016 (has links)
Notre motricité s’adapte plus ou moins facilement aux changements liés, à l’environnement et à l’évolution de nos capacités au cours de nos expériences, de nos apprentissages et de l’avancée dans l’âge. Nous nous efforçons alors de trouver des solutions optimales, pour être plus performants, plus efficaces. Le couplage perception-action est à la base de l’organisation du contrôle moteur. L’Homme perçoit à travers plusieurs systèmes sensoriels des informations intrinsèques, en provenance de l’état du corps lui-même, et des informations extrinsèques, issues de l’environnement. Ces informations sont mises au service du mouvement et des actions de la vie quotidienne à travers les processus cognitivo-moteurs : de prédiction, d’estimation et de planification motrice. Interroger ces mécanismes chez des personnes âgées fragilisées par l’apparition de troubles cognitifs légers en lien avec la maladie d’Alzheimer, permet de mieux comprendre leur capacité d’adaptation et de compensation face à ce vieillissement. Il s’agit par ailleurs de maintenir et de renforcer ces capacités par l’enrichissement réfléchi de l’environnement de stimulation de la personne âgée. Ces interventions préventives représentent un intérêt majeur pour la préservation de l’indépendance fonctionnelle des personnes âgées vulnérables. Ces travaux de thèse proposent le développement d’outils permettant la stimulation et le renforcement des processus cognitivo-moteurs. Il s’agit d’engager le couplage perception-action à travers des exercices moteurs implicites favorisant l’acquisition de nouveaux apprentissages et le renforcement des processus d’adaptation et de compensation au cours de l’évolution de la maladie. / To write, take, walk, talk is a part of our daily. Our motor ability is used to change depending on our environment and our skill, acquired thanks to our experience, learnings, and according to our age. We strive to find optimal solutions, to be more performants, more efficient. But we must be able to discern to act well and act to better discern. This « perception-action » coupling is the basis of the organization of motor control. Human can discern through several sensory systems (Visual, auditory, proprioceptive) intrinsic informations, coming from his own body, and extrinsic informations, from his environment. All of these informations are in the service of the movement and actions of daily life through the cognitivo-motor processes: of prediction, estimation and motor planning. To question these processes in aged people, weakened by mild cognitive impairment related to Alzheimer's disease, first allow to better understand their adaptation and compensatory capacities faced to this pathological aging. These preventive interventions represent a source of major interest, especially in the preservation of functional independence of vulnerable old people.These works of thesis propose development of tools for stimulating and strengthening cognitive-motor processes. It is clearly about engaging the perception-action coupling through implicit motor exercises benefiting the acquisition of new training and strengthen the process of adaptation and compensation during the progression of Alzheimer’s disease. So many of these processes stimulation exercises will be presented to better know the components relates to the action.
282

L'appel à l'art et la culture comme médiation pour une transformation des regards sur les personnes atteintes de maladie d'Alzheimer : étude psychodynamique des enjeux de rencontre entre malades et familles au sein de quatre EHPAD / To use art and culture like mediation the way we look at elderly people suffering of Alzheimer’s disease : psychodynamic study about meetings between patients and families within four EHPAD

Alemagna, Leslie 12 December 2016 (has links)
Le point nodal de cette recherche porte sur le changement de regard sur la maladie d'Alzheimer et les troubles apparentés. Ce travail de thèse interroge alors le regard porté, à différents niveaux (sociétal, familial et singulier) sur la démence et sur ce que cela engendre sur les personnes qui en sont atteintes et sur son entourage. Nous amènerons ainsi notre réflexion sur les moyens qui pourraient être mis en place pour permettre une modification des représentations portées sur la vie psychique de la personne malade. Le concept de handicap de Wood et la Classification Internationale de Fonctionnement sont des référentiels sur lesquels nous allons nous appuyer comme modèles de compréhension des situations de handicap en s'intéressant tout particulièrement à la question du désavantage sociale. Nous interrogerons alors les effets des regards sur la personne Alzheimer nous conduisant à la question de l'intersubjectivité, c'est-à-dire des enjeux correspondant aux modes d'Alzheimer. Il convient alors de faire un inventaire de ce qui habite, trahi, infléchi le regard dans sa réciprocité et d'identifier tout ce qui caractérise ce regard. Nous faisons ainsi l'hypothèse d'un appel à l'art comme vecteur de changement de regard. L'objectif sera alors d'étudier comment l'art thérapie peut produire autre chose que ce qui fait désavantage. En effet, l'art fait appel à la créativité, il s'agit donc d'une production de la vie psychique. Cela engendre des émotions qui sont brutes, non représentables mettant en exergue ce qui constitue le coeur même de l'identité du sujet. Nous travaillerons sur les articulations entre les incapacités et les désavantages sociaux dans le but de rechercher et d'identifier de nouvelles compétences que les personnes âgées construisent dans leurs situations de malades Alzheimer. / Aging in our current society, in which death is constantly pushed backwards, places the elderly at risk of exclusion from the social sphere. "Aging young": here is the paradox we are facing every day. The way society views the elderly, especially those suffering from Alzheimer's disease, is pejorative, referring to dependence, decline and decay. Alzheimer's disease is often defined as “severing of connections” , often seen as an impediment to communication and relationships, especially with family members. " An individual is a social being" says Norbert Elias, sociologist. So taking into consideration the stigmatization of Alzheimer disease and the social representation that family members may have, it becomes possible to develop tools that would allow a different type of bond in the future. After several months of immersion, observations and meetings in different EHPAD, this study offers an approach to transform and build an alternative outlook on people suffering from Alzheimer's disease through an introduction to artistic and cultural measures.
283

Vascular mechanisms in dementia with special reference to folate and fibrinolysis

Hagnelius, Nils-Olof January 2009 (has links)
The aim of this thesis was to study the biomarker homocysteine and other novel potential vascular risk factors for dementia. In an out-patient based study of a cohort of 926 consecutive subjects referred to our Memory Unit during 1996―2000, serum-folate was lower and total plasma homocysteine (tHcy) and serum methyl malonate were higher in subjects being prescribed with B12. In the subgroup diagnosed with dementia and with a positive family history of dementia, tHcy was higher than in the subgroup diagnosed as non-demented. It is necessary to supplement subjects with vitamin B12 deficiency with B12, but our results indicate that it is not sufficient with B12 alone because this gives rise to intracellular folate deficiency. We also found indications of a genetic component in dementia because tHcy was higher in the group with a positive family history of dementia. These findings prompted further studies of homocysteine metabolism. The frequency of mutations in the gene for folate receptor-α (FOLR-1), and the fibrinolytic pattern in dementia and non-dementia were studied in the two cohorts DGM (n=300) and AS (n=389). The DGM cohort is a consecutive series of subjects attending our Memory Care Unit for investigation of suspected cognitive problems or dementia between 2003 - 2007. The AS (= active seniors) cohort comprises retired, apparently healthy subjects from central Sweden, actively participating in study circles. A rare haplotype in the FOLR-1, with mutations in two nearby loci, was discovered, possibly associated with lower serum-folate and higher tHcy concentrations and was more frequent in the DGM group. The transport of folate to the CSF was studied in the DGM-cohort. Dementia with a vascular component was associated with a lower CSF to serum folate ratio indicative of reduced transport of folate to the CSF and further to the brain. The vascular endothelial derived fibrinolytic markers tPA, tPA/PAI-1-complex, and vWF were not only higher in vascular dementia (VaD) but also in Alzheimer’s Disease (AD) when compared to the AS group. The impaired fibrinolytic activity in both vascular dementia and in AD is a novel finding, signifying a vascular component in the development of dementia. In conclusion we found that both hereditary and nutritional background factors were linked to dementia and furthermore that a dysregulated fibrinolysis was linked to both VaD and AD.
284

Down syndrome, health and disability:a population-based case record and follow-up study

Määttä, T. (Tuomo) 06 December 2011 (has links)
Abstract The present study surveyed medical problems and mental health in an unselected population-based series of people with Down syndrome (DS). All people with DS identified in the Intellectual Disability Service Register in the Kainuu region (n=138) were included, and their health and disability case records in the public services were analysed. The severity of intellectual disability was related to age, gender, and recorded medical problems. Adaptive behaviour changes were assessed among adults repeatedly during ten years using the Adaptive Behaviour Scale - Residential and Community, Part I. The study evaluated health surveillance and practices were compared to the national Current Care guidelines. Numerous medical problems and behavioural symptoms were recorded in this population. Surgical treatments were used extensively. The number of medical problems varied to a great degree among participants. Health problems were extensive from birth to old age. Many health concerns were age-related. The degree of intellectual disability related to visual and neurological impairments. Depression, and among participants in their forties and older, Alzheimer’s disease were the most common underlying reasons for changes in adaptive behaviour. A gradual functional decline and dementia affected many participants at a relatively early age. Visual acuity and hearing should be regularly monitored in all individuals with DS because of a high prevalence of visual impairment and hearing loss in this population. There was a general lack of evidence that the health care guidelines initiated five years ago were being followed. This suggests that possibilities to enhance health have not been optimally implemented. Therefore, further efforts are needed to diagnose and treat medical problems in people with DS. / Tiivistelmä Tutkimuksessa kuvattiin todettujen terveysongelmien yleisyyttä ja terveysseurannasta annettujen suositusten toteutumista Downin oireyhtymässä. Nykyisin Kainuussa elävien Down -henkilöiden tietojen lisäksi alueella aiemmin asuneiden saatavissa olevat sairaus- ja huoltokertomustiedot analysoitiin (n=138). Kehitysvammaisuuden vaikeusasteen, iän, sukupuolen ja todettujen sairauksien yhteyksiä selvitettiin. Aikuisten ja ikääntyvien Down -henkilöiden toimintakykyä seurattiin kymmenen vuoden ajan käyttäen Adaptiivisen käyttäytymisen asteikkoa. Käypä hoito -suosituksen toteutumista terveysseurannan osalta arvioitiin. Down -henkilöillä oli todettu lukuisia terveysongelmia ja käytösoireita kaikissa ikäryhmissä. Kirurgisia hoitoja oli tehty paljon. Yksilölliset erot sairastavuudessa ja toimintakyvyssä olivat erittäin huomattavat. Monet terveysongelmista liittyivät tiettyyn ikään. Vaikeasti kehitysvammaisilla todettiin enemmän silmäsairauksia ja näön ongelmia sekä neurologisia sairauksia kuin lievästi tai keskivaikeasti kehitysvammaisilla. Masennus ja yli 40 vuoden ikäisillä Alzheimerin tauti olivat yleisimmät toimintakyvyn heikentymisen syyt. Toimintakykvyn heikentyminen alkoi usein 40 ikävuoden jälkeen ja moni sairastui suhteellisen nuorena dementiaan. Kaikkien Down -henkilöiden kuuloa ja näköä tulisi seurata säännöllisesti, koska kuulon alentuminen ja näön ongelmat ovat yleisiä ja jäävät usein toteamatta. Hoitosuositukset eivät toteutuneet ainakaan säännöllisen kuulon ja kilpirauhasen toiminnan seurannan osalta viiden vuoden kuluessa suositusten antamisesta. Terveysseurannan parempi toimeenpano terveyden edistämiseksi on mahdollista. Down henkilöiden sairauksien toteamisen ja hoidon kehittäminen vaatii edelleen työtä.
285

Implication des recepteurs nicotiniques α7 dans les deficits mnesiques induits par des injections intra-hippocampiques de peptides amyloïdes-beta (1-42) chez la souris / Role of α7 nicotinic receptors in memory deficits induced by intra-hippocampal injections of β-amyloid peptides (1-42)

Faucher, Pierre 11 December 2015 (has links)
Bien que la maladie d’Alzheimer (MA) soit la cause de démence la plus fréquente, lesmécanismes qui sous-tendent les déficits cognitifs chez les patients restent mal connus.Cependant, les peptides amyloïdes (Aβ) semblent être un acteur majeur impliqué dansl’apparition des troubles mnésiques au cours de l’évolution de la maladie, notamment de parleur capacité à induire un hypofonctionnement du système cholinergique associé au déclinmnésique. Sur la base de ces observations, le rôle joué par les récepteurs cholinergiquesnicotiniques α7 (α7-nAChRs) a été largement étudié, au vue de leur capacité à interagir avecles Aβ, sans toutefois dégager un consensus quant à l’implication de ces récepteurs dans lesdéficits mnésiques induits par les Aβ.Afin d’améliorer notre compréhension quant aux mécanismes sous-tendant les effetsdélétères induits par les Aβ dans les déficits mnésiques, notre travail visait à identifier le rôlejoué par les récepteurs α7-AChRs via une approche comportementale, pharmacologique etmoléculaire. Ainsi, nous avons utilisé un modèle « souris » basé sur des injections de formesoligomériques d’Aβ(1-42) (Aβo(1-42)) dans la région CA1 de l’hippocampe dorsal (dCA1),structure cérébrale impliquée dans les processus mnésiques, atteinte de manière précoce dansla MA et exprimant fortement les récepteurs α7-nAChRs.La première partie de cette étude a consisté à mettre au point et à valider notre modèleanimal d’étude des effets induits par les Aβo(1-42) dans le dCA1 par une approchecomportementale et moléculaire. Nous montrons que les injections répétées d’Aβo(1-42) dans ledCA1 induisent une perturbation spécifique de la mémoire de travail alors que la mémoirespatiale est préservée lorsque les performances mnésiques sont évaluées 7 jours après ladernière injection. Nous avons également montré que cette perturbation de la mémoire detravail est associée à une absence d’activation/phosphorylation de ERK1/2 au sein du réseauhippocampo-frontal et septo-hippocampique. Ces données nous ont permis de valider notremodèle expérimental permettant d’étudier spécifiquement l’impact des Aβo(1-42) dansl’hippocampe dorsal.Dans une seconde partie, nous nous sommes focalisés sur le rôle joué par lesrécepteurs α7-nAChRs dans les perturbations mnésiques induites par les Aβo(1-42). Nosrésultats montrent que (1) les souris KOα7 ne présentent pas de déficits de mémoire de travailconsécutivement aux injections intra-dCA1 d’Aβo(1-42), (2) les déficits mnésiques ainsi que lala perturbation de l’activation de ERK1/2 induits par les Aβo(1-42) sont compensés par destraitements pharmacologiques agoniste partiel et antagoniste des récepteurs α7-nAChRs, (3)le traitement par un agoniste complet des récepteurs α7-nAChRs ne permet pas de prévenir lesdéficits mnésiques. Au regard de ces résultats, le récepteur α7-nAChRs semble être essentielau développement des déficits mnésiques induits par les Aβo(1-42), et l’utilisationd’antagonistes de ces récepteurs pourraient être une cible potentielle pour le développementde nouvelles stratégies thérapeutiques. / Although Alzheimer’s disease (AD) has been considered as one of the major causesfor dementia, the mechanisms by which cognitive decline appear still remain unclear.However, amyloid-β peptides (Aβ) seem to play a central role in the appearance of memoryimpairments in the time course of the disease, inducing down-regulation of the cholinergicsystem which is associated with cognitive decline. Based on these observations, the role of α7nicotinic receptors (α7-nAChRs) which can interact with Aβ was widely studied withoutconsensus about the involvement of these receptors in memory deficits induced by Aβ.In order to improve our knowledge about the mechanisms involved in Aβ side effects,our work aims at identify the role of α7-nAChRs via behavioral and molecular approaches.Thus, we used a mice model based on injections of oligomeric assemblies of Aβo(1-42) (Aβo(1-42)) in the CA1 field of the dorsal hippocampus (dCA1) which is a brain structure stronglyinvolved in memory processes, precociously affected in the AD and with a high density of α7-nAChRs.The first part of this study was to develop and validate this animal model to studythe effects induced by Aβo(1-42) in the dCA1 by behavioral and molecular approaches. Weshow that repeated injections of Aβo(1-42) in the dCA1 induce a specific disruption of workingmemory 7 days after the last injection whereas spatial memory is spared. We also showed thatworking memory disturbance is associated with decreased activation / phosphorylation ofERK1 / 2 in the hippocampo-frontal and septo-hippocampal networks. These data allowed usto validate our experimental model to specifically study the impact of Aβo(1-42) into the dorsalhippocampus.In the second part, we focused on the role played by the α7- nAChRs receptors inmemory disturbances induced by Aβo(1-42). Our results show that (1) KOα7 mice do notexhibit working memory deficits consecutively to intra-dCA1 Aβo(1-42) injections, (2) thememory deficits and decreasing activation of ERK1/2 induced by Aβo(1-42) are offset bypharmacological treatments partial agonist and antagonist of α7-nAChRs receptors, (3)treatment with a full agonist of α7-nAChRs receptors does not prevent memory deficits .Given these results, the α7-nAChRs receptor appears to be essential to the development ofmemory deficits induced by Aβo(1-42), and the use of antagonists of these receptors might be apotential target for developing new therapeutic strategies for AD.
286

Die invloed van ‘n kommunikasiegerigte opleidingswerkswinkel op die interaksie tussen verpleegpersoneel en persone met Alzheimer-Siekte (AS) in ‘n versorgingseenheid (Afrikaans)

Schoeman, Nicolene 05 June 2007 (has links)
Professional and personal caregivers of persons with Alzheimer’s disease (AD) receive little or no training with regards to the nature, course and accompanying communication challenges of this illness (Haak, 2003). The main aim of the research study was to investigate the interaction between nursing home staff and persons with AD with in a nursing home context, before and after attending a communication-orientated educational workshop for the nursing home staff. Research was carried out by using multiple single case studies. A pre-experimental design was used as the research method. The four participants’ communication skills (verbal, nonverbal and paralinguistic) were evaluated by using the Pragmatic Protocol (Prutting and Kirchner, 1987). Their listening skills were observed and scored according to the Checklist of listening behaviours (Hartley, 1995). A questionnaire was designed to measure the participants’ knowledge and perceptions of different AD aspects. Various shortcomings were identified in the interaction process which highlights the importance of training staff to become competent in using communication strategies that facilitate more successful interaction with persons with AD. The communication-orientated educational workshop (event of the study) was designed according to the data that was collected and based on the person-centred approach of Kitwood (1997). The participants’ communication and listening skills, knowledge and perceptions were evaluated again in the posttest (after the workshop) to determine whether or not there had been a change in these areas. A general view of all the participants’ results showed that there was a significant change in their communication and listening skills. The interaction process was more appropriate during the posttest in comparison to the results that were obtained in the pretest. The participants’ interaction were based more on the principles of the person-centred approach to dementia care than the pretest. There had been a noticeable increase after the workshop in the participants’ knowledge and change to a more positive perception towards persons with AD and the illness. The conclusion has been reached that attendance and participation in a communication-orientated educational workshop leads to more positive interaction with persons with AD. This study has motivated the need for dementia care that is based on the principles of the person-centred approach. It is suggested that an increase in the person-centred approach leads to improvement in quality of life of persons with AD as well as the decrease of the effect of institutionalization in a nursing home setting. Suggestions for future research include that attention should be given to educational programmes with regards to communication strategies for persons with AD. It has furthermore been suggested to approach managers of nursing homes regarding future inservice training of their nursing home staff. / Dissertation (M(Communication Pathology))--University of Pretoria, 2007. / Speech-Language Pathology and Audiology / unrestricted
287

Neuropsychological symptoms and premorbid temperament traits in Alzheimer's dementia

Cassimjee, Nafisa 18 June 2004 (has links)
The aim of this study was to investigate the relationship between noncognitive symptoms and premorbid temperament in a group with Alzheimer’s disease. The relationship between premorbid temperament and noncognitive symptoms can be used to understand symptom susceptibility and risk, caregiver burdens, as well as providing insights into the neuroanatomical substrates of temperament and noncognitive behaviour. Sixty-three primary caregivers of Alzheimer’s patients fulfilled the eligibility criteria for this study. Information regarding the noncognitive symptoms and premorbid temperament was procured from the primary caregivers. In fifty-one cases, a secondary caregiver also provided information about the premorbid temperament of the Alzheimer’s patient. The latter was obtained to enhance the reliability of retrospective data. The Behaviour Rating Scale for Dementia, the Formal Characteristics of Behaviour-Temperament Inventory, and the Blessed Dementia scale were used to elicit data on noncognitive symptomatology, premorbid temperament, and current cognitive status, respectively. ii Noncognitive symptoms were grouped into two clusters namely neuropsychiatric and neurobehavioural disturbances. The neuropsychiatric cluster included mood and psychotic symptoms and the neurobehavioural cluster included vegetative and overall behavioural dysregulatory symptoms. Results showed that there is a wide spectrum of noncognitive symptom manifestation in patients’ profiles and that the neurobehavioural dysregulatory symptoms are more common than the neuropsychiatric symptoms in this Alzheimer’s cohort. With regard to symptom manifestation and cognitive status, a Pearson product moment correlational analysis showed that a lower level of cognitive functioning is significantly associated with aggressive episodes and a higher level of cognitive functioning with manifestations of depressive symptoms. In terms of interrater concordance on premorbid temperament ratings, intraclass correlations were significant for five of the six temperament domains, thus indicating a reliable estimate of premorbid disposition. Canonical correlational analysis yielded two significant variates. The first variate indicated that Alzheimer’s disease patients with a proclivity for aggressive behaviours and general behavioural deregulation but lower depressive profiles, were premorbidly more emotionally reactive, had low sensory thresholds (high sensitivity), and greater cognitive deficit. The second variate showed that patients with Alzheimer’s disease who tended to manifest with depressive and dysregulatory behaviour appear to have been premorbidly perseverative in temperament with a low sensory threshold (high sensitivity) and the tendency to maintain and attain a low level of activity (stimulation). Taken together, the significant variates revealed a dimensional relationship between depressive symptoms, aggressive symptoms, and behavioural dysregulation; and sensory sensitivity, emotional reactivity, perseverance, and activity, with cognitive status serving as a moderating variable. In conclusion, the study indicated a dimensional relationship between specific premorbid temperament traits and noncognitive symptoms, thereby highlighting the possible predictive influence of premorbid temperament on noncognitive manifestations in Alzheimer’s disease patients. / Thesis (PhD (Psychology))--University of Pretoria, 2005. / Psychology / unrestricted
288

The psychological health implications of social support for the Alzheimer caregiver

Coetsee, Martha Johanna 25 August 2008 (has links)
Apart from the personal and socioeconomic burdens of dementia, the immense, intangible emotional and psychological suffering endured by dementia patients, their carers and families are difficult to quantify. Alzheimer’s dementia (AD) accounts for over 50% of all dementias and is responsible for a large percentage of morbidity and mortality in older adults. It is also recognised as a disease qualitatively distinct from the normal ageing process. Identified almost 95 years ago by Alois Alzheimer, it poses a seminal problem, which in the twenty-first century is compounded by the predicted extension in human longevity. Caregivers thus bear a considerable financial, social and emotional burden due to the progressive debilitating nature of the disease. It is hypothesised that social support buffers the individual from the negative emotional effects of stressful circumstances associated with the caregiving process; and although the inevitable course of the disease cannot be stopped, improving support to caregivers may decrease feelings of isolation and improve psychological health. Caregivers of AD patients often report experiencing a lack of social support due to the nature and progression of this disease. This study thus aims to investigate the relationship between real and/or perceived social support and psychological health (depression, loneliness, and perceived burden of care) amongst a cohort of Alzheimer’s caregivers. The following standardised measuring instruments were used to elicit data: the Zarit Burden Interview (ZBI), the Beck Depression Inventory (BDI-II), UCLA Loneliness Scale, Personal Resource Questionnaire (PRQ85) and a biographical questionnaire. Data were analysed using correlation and regression statistical techniques. The main findings of this study were that there is a significant positive correlation between loneliness and depression; loneliness and personal strain (burden) as well as both role and personal strain (burden) with depression. A significant negative correlation was also found between perceived social support and loneliness. Additional findings were that participants with higher educational qualifications experienced more personal strain and role strain (burden); caregivers with patients in the two younger age groups scored higher on the BDI-II; and the cognitive status of the patient correlated with the burden experienced by the caregiver. A significant negative correlation between summaries of reactions (burden) and duration of caregiving was also reported. / Dissertation (MA)--University of Pretoria, 2008. / Psychology / unrestricted
289

Etude génotypique et phénotypique des polymorphismes du récepteur du complément de type 1 (CR1,CD35) dans la maladie d’Alzheimer / Genotype and phenotype study of complement receptor type 1 polymorphisms (CR1, CD35) in Alzheimer’s disease

Mahmoudi, Abd-elrachid 02 June 2015 (has links)
Les études d'association pangénomiques ont permis d'identifier de nouveaux loci, dont le gène CR1 comme associé au risque de maladie d'Alzheimer (MA). Le récepteur du complément de type 1 (CR1) est une glycoprotéine transmembranaire, présente notamment à la surface des érythrocytes (CR1E), mais également dans le plasma sous forme soluble (CR1s). Le CR1 peut prendre des formes fonctionnelles différentes, qui pourraient conférer des niveaux de risque différents, voire suggérer des mécanismes physiopathologiques de la MA. Si la relation entre CR1 et MA est aujourd'hui connue, son mécanisme reste énigmatique.L'objectif principal de cette thèse était de corréler aux données génétiques (single nucleotide polymorphisms, polymorphismes de longueur, polymorphismes de densité), des éléments phénotypiques acquis comme la densité du CR1E ou le CR1S. D'une part, notre étude a montré grâce à deux méthodes différentes, que la MA était associée à une densité basse de l'isoforme long de CR1 (CR1*2) et suggérait l'existence d'allèle silencieux de CR1. D'autre part, nous avons montré que même si les critères génétiques étaient respectés, certains phénotypes pourraient être acquis au cours de la maladie. Nos résultats suggèrent que la MA résulterait plus d'une insuffisance d'épuration des dépôts amyloïdes, que d'une réponse excessive dont la réaction inflammatoire serait délétère. Bien que cette recherche génotypique et phénotypique, à potentiel physiopathologique, nécessite des investigations à plus grande échelle, elle pourra ouvrir la voie à des nouvelles pistes thérapeutiques qui ne peuvent être envisagées aujourd'hui faute de vue claire du ou des mécanismes en cause. / Genome-wide association studies have identified new loci, including the CR1 gene, as being associated with Alzheimer's disease (AD) risk. The complement receptor type 1 (CR1) is a transmembrane glycoprotein found on the surface of erythrocytes (CR1E), and also in the plasma in soluble form (CR1s). CR1 can have different functional forms that may confer different risk levels, or even suggest pathophysiological mechanisms of AD. Indeed, the relation between CR1 and AD is now well established, the mechanism of this association remains to be elucidated.The main objective of this thesis was to correlate acquired phenotype elements, such as density of CR1E (number of CR1 antigenic sites per erythrocyte) or CR1s with genetic data (single nucleotide polymorphisms, length and density polymorphisms). Firstly, our study showed using two different methods that AD is associated with low density of the long CR1 isoform (CR1*2) and suggested the possible existence of silent CR1 alleles. Secondly, we showed that although genetic criteria were met, some phenotypes could be acquired during the course of the disease. Our findings suggest that AD stems more from insufficient clearance of amyloid deposits than from excessive response whose inflammatory reaction might be deleterious. Although this genetic and phenotypic study with pathophysiological potential still require further investigation on a larger scale, she could pave the way towards new therapeutic avenues that currently remain elusive in the absence of a clear overview of the mechanisms involved.
290

The needs and experiences of caregivers of persons with Alzheimer's disease living in black rural communities in Mpumalanga

Bosch, Johan N. January 2015 (has links)
The worldwide ageing of the population, with an increase in associated chronic diseases, will inevitably escalate the demand for social work services at individual, group and community level. Alzheimer’s disease is one of the conditions associated with a population that is growing older. The disease was first described by Alois Alzheimer in 1906 and is characterised by progressive declines in cognitive and body functions, eventually resulting in death. It is estimated that 25 to 30 million people worldwide suffer from Alzheimer’s disease and that in 2050, 106.2 million people will be living with the disease, causing a looming global epidemic of Alzheimer’s disease (Brookmeyer, Johnson, Ziegler-Graham & Arrighi, 2007:186). At some stage in the disease’s process, most, if not all people with Alzheimer’s, require some form of care. This care is generally provided by informal (family) caregivers in the community. Providing care to an older person with Alzheimer’s disease present multiple challenges with many factors influencing the caregiving experience. When the needs of caregivers are not met, caregiver burden may result. For the many families living in rural and impoverished areas, this additional responsibility may come as an extraordinary burden and cause unwarranted stress. The goal of the study was to explore the needs and experiences of caregivers of persons with Alzheimer’s disease living in black rural communities in Mpumalanga. The guiding research question was: What are the needs and experiences of caregivers of persons with Alzheimer’s disease living in black rural communities in Mpumalanga? A qualitative research approach was followed with a collective case study research design. The population for this study was caregivers providing care to persons diagnosed with Alzheimer’s disease living within the Ehlanzeni and Nkangala Rural Districts Municipalities of Mpumalanga. Non-probability purposive sampling was utilised to generate a sample. Eleven participants who were caregivers of persons with Alzheimer’s disease living in communities within the above-mentioned municipalities were selected. Semi-structured individual interviews were conducted with participants. Interviews were voice recorded with the permission of the participants, and were transcribed by a contracted transcriber. The data gathered were analysed by the researcher and themes and sub-themes were identified. The research findings were presented by providing a profile of research participants followed by a thematic analysis of the themes and sub-themes from the transcriptions. Literature control and verbatim quotes were used to support the findings. The themes include the following: Theme One – The Alzheimer’s disease caregiver; Theme Two – Indigenous issues with regards to Alzheimer’s disease; Theme Three – Caregivers’ understanding of Alzheimer’s disease; Theme Four – The impact of Alzheimer’s disease on the caregiver and Theme Five – Support services in the community. The conclusions of this study reflect that caregivers in black rural communities in Mpumalanga have a number of needs and challenges in providing care to a person with Alzheimer’s disease. Some of the challenges include the absence of caregiving training, stigmatisation due to indigenous beliefs, traditional healers’ diagnosis and treatment of Alzheimer’s disease, limited knowledge of caregivers about Alzheimer’s disease, adverse physical, social and psychological outcomes associated with caregiving, negative experiences with the public health care system, and the limited availability and accessibility of support services in the community. The recommendations offered by this study can be used by professionals working in the field of gerontology to understand the needs and experiences of Alzheimer’s caregivers. Social workers can use the recommendations to find ways to make their services known to the communities, and improve their intervention and support to these caregivers. / Dissertation (MSW)--University of Pretoria, 2015. / Social Work and Criminology / Unrestricted

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