Thesis (Ph. D.)--University of Texas Health Science Center at Houston, School of Public Health, 1994. / Includes bibliographical references (leaves 163-169).

<p>Amyotrofisk lateralskleros och multipel skleros är båda neurologiska sjukdomar som orsakar fysiska begränsningar och påverkar vardagslivet. Syftet med studien var att undersöka hur vardagslivet gestaltar sig för dessa patienter. Studien baseras på en kvalitativ metod utifrån sex självbiografier och en biografi, vilket ger en insyn i patienternas egna upplevelser av hur det är att leva med ALS eller MS. Resultatet består av fyra huvudteman; Relationer, Begränsningar, Psykisk hälsa och Tankar. I samband med sjukdomen blir relationer mer betydelsefulla samtidigt som den för med sig påfrestningar i förhållandet. Begränsningarna kan leda till att den sjuke får allt svårare att klara av sin vardag vad det gäller hemmet, fritiden samt arbete. Den psykiska hälsan kan yttra sig som depression och det blir en daglig kamp där de söker mening med livet och försöker ta kontroll över situationen. Tankarna handlar om nya värderingar i livet och deras ovisshet om framtiden samt att acceptera situationen. Denna studie kan öka sjuksköterskans kunskap och förståelse för patientens situation, samt vara till hjälp vid individanpassningen av omvårdnaden för dessa patienter. Den kan även vara till hjälp för andra personer som vårdar dessa patienter, som till exempel anhöriga och annan ansvarig vårdpersonal.</p> / <p>Amyotrophic lateral sclerosis and multiple sclerosis are both neurological diseases that cause physical limitations and have consequences on daily life. The aim of this study was to clarify how this daily life appears for these patients. The study is based on a qualitative method with six autobiographies and one biography, which gives an insight of their own, lived experiences on how it is to live with ALS or MS. The result contains four main subjects; Relations, Limitations, Psychical health and Thoughts. In sickness relations becomes more of value, but it also cause stress within a relationship. The limitations make life more difficult in different aspects, such as home environment, leisure activities and work. The mental health can develop into a depression and it becomes a daily fight where they seek a meaning with life and try to take control over the situation. Thoughts are about new values in life, an uncertainty about the future and to accept the situation. The findings of this study can give nurses more knowledge and understanding and be helpful when adjusting nursing care for each of these individuals. It can also be a help to other people who take care of these patients, such as family members and other involved care staff.</p>

Thesis (MSc (Genetics))--University of Stellenbosch, 2007. / Multiple sclerosis (MS) is a disease that causes neurological dysfunction. Studies attempting to elucidate the role of genes in MS development may aid efforts to control the damage caused by the disease that affects two million people worldwide, e.g. improved diagnosis and treatment. Although the association of MS and genes has not been fully characterized the proposed genetic etiology has been supported by the observed association of MS with the Major Histocompatibility Complex (MHC), haplotype HLA-DRB1*1501, DRB5*0101, DQA1*0102, DQB1*0602. Iron, or rather the dysregulation thereof, has also been implicated as a precipitating factor in MS development. Considering the factors of iron dysregulation and the genes involved in iron regulation, this study aims to identify variation within genes involved in iron metabolism namely the high iron gene (HFE), solute-carrier family 40 (iron regulated transporter) member 1 gene (SLC40A1), hepcidin anti-microbial peptide (HAMP), cytochrome b reductase 1 (CYBRD1) and hemojuvelin (HJV). Screening of 40 patients (33 female, seven male; 33 Caucasian, seven Coloured) for each of the five genes was achieved by the Heteroduplex Single-Stranded Conformation Polymorphism (HEX-SSCP) technique. Semi-automated DNA sequencing allowed for verification and characterization of the variants detected. Results included identification of four novel variants present in only the Caucasian patient group, characterized as IVS4-53G→A (HFE) (one of 33 patients; 3%), IVS2-65delA (CYBRD1) (two of 32 patients; 6.3%), 3’UTR+26delACGTCACGTTTCAAAACTA (CYBRD1) (one of 31 patients; 3.2%) and 219delG (HJV) (two of 33 patients; 6%). In addition, a total of 15 previously described variants were identified (seven intronic and eight exonic) of which three were also prevalent in only the Caucasian patient group. This study aimed to investigate the differences ...

No description available.

Bakgrund I Sverige får varje år cirka 1 000 personer diagnosen multipel skleros (MS) och ungefär 28 000 har sjukdomen. 80 procent av de som insjuknar får symtom som yttrar sig som energilöshet, svårigheter att koncentrera sig, försvagad mental styrka och sänkt livskvalitet, återhämtningstiden är också längre än vid annan trötthet. Det finns mycket som personen med MS kan göra i form av egenvård både fysiskt och psykiskt, Ökad fysisk aktivitet och även mental träning, har visat sig effektivt mot fatigue, ju mer en person tränar desto piggare blir denne. Syfte  Beskriva personer med MS erfarenheter av sin livskvalitet efter att ha utövat olika former av träning regelbundet. Regelbunden fysisk aktivitet innebär att, alla vuxna bör vara fysiskt aktiva under veckan, både vardagar och helger. Bäst effekt har träningsformer som innehåller både fysisk och mental träning (Folkhälsomyndigheten.se. 2021-10-04). Metod  En beskrivande litteraturstudie av 12 vetenskapliga artiklar med kvantitativ ansats granskades och analyserades. Huvudresultat Deltagarnas erfarenhet av fysiska aktiviteter var att dessa förbättrade livskvalitén och fysiska funktioner hos de som deltog i studien. Vilken träningsform och vilken intensitet den utövades med påverkade resultaten.  Slutsatser Deltagarna i studiernas erfarenhet av träningen var att livskvaliteten förbättrades, både fysiskt och mentalt. Olika träningsformer påverkade resultaten beroende på tyngden på träningen och sjuksköterskan kan ha en stor roll gällande motivering, utbildning och guidning till ett sunt och hälsobringande levnadsätt. Nyckelord Multiple sclerosis, wellbeing och quality of life.

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Diss. (sammanfattning) Umeå : Umeå universitet, 2010. / Härtill 4 uppsatser.

Aux côtés des formes dites classiques de Sclérose en plaques (SEP), un nombre important de patients présentent des caractéristiques atypiques qui vont être responsable d’une période, parfois longue, d’errance diagnostique. Certains de ces patients, malgré les atypies, font clairement partie du spectre de la SEP tandis-que d’autres présentent probablement des maladies inflammatoires démyélinisantes idiopathiques distinctes qui sont, à ce jour, toujours en attente d’individualisation.Les objectifs principaux de ce travail de thèse étaient de mieux caractériser ces formes atypiques de SEP et autres maladies inflammatoires démyélinisantes idiopathiques.Nous avons effectué un travail rétrospectif de caractérisation clinique et radiologique (sur les données d’IRM acquises en conditions de vie réelle) afin d’aider au diagnostic et à mieux définir le pronostic évolutif de ces patients. Nous avons également effectué une analyse anatomopathologique chez les patients présentant une lésion inflammatoire nécessitant une biopsie avec pour objectif de mieux positionner ces lésions au sein du spectre de la SEP et du spectre des Neuromyélites Optiques (NMOSD). Enfin nous avons effectué une caractérisation de l’expression astrocytaire du récepteur NKp46 au sein des lésions de SEP et des lésions inflammatoires démyélinisantes atypiques.Les principaux résultats sont :1) En l’absence d’autre lésion cérébrale évocatrice de SEP, le risque de développer une SEP cliniquement définie chez un patient présentant une lésion cérébrale inflammatoire démyélinisante isolée est faible.2) La SEP, notamment dans sa forme progressive, peut avoir des caractéristiques proches de celles rencontrées dans le cadre des léucoencéphalopathies héréditaires. Dans ces situations, l’analyse des lésions de la substance grise, de la topographie des lésions de la substance blanche et le caractère nodulaire (>3mm mais non diffus) sont en faveur du diagnostic de SEP.3) Les lésions inflammatoires démyélinisantes du système nerveux central sont extrêmement hétérogènes en IRM. Néanmoins, certaines caractéristiques leurs sont communes : liseré périphérique en hypersignal en diffusion, prise de contraste périphérique ouverte, respect de la substance grise. L’analyse anatomopathologique sur tissus provenant de biopsies réalisées pour incertitude diagnostique démontre une préservation quasi systématique du marquage AQP4.4) L’expression astrocytaire de NKp46, récepteur classiquement décrit comme spécifique des lymphocytes NK, est commune à de nombreuses conditions neuroinflammatoires et neurodégénératives y compris la SEP, les NMOSD et les autres maladies inflammatoires démyélinisantes. Nous n’avons, à ce jour, pas pu déterminer l’implication du récepteur NKp46 dans la réponse astrocytaire en conditions inflammatoires.En conclusion, l’étude de notre cohorte rétrospective multicentrique a permis de mieux préciser les caractéristiques clinique (y compris de suivi), anatomopathologiques et IRM de patients présentant des formes atypiques de SEP et de maladies inflammatoires démyélinisantes.L’identification de sous-types de SEP caractérisés par une atteinte extrêmement sévère tant sur le plan clinique que radiologique nous semble pouvoir être un modèle d’étude intéressant dans la recherche de biomarqueurs d’imagerie et biologiques de la maladie. / Beside classical multiple sclerosis (MS), a significant proportion of patients can present some atypical clinical or radiological characteristics that will lead to diagnostic uncertainties. On one side, some of these patients belong to MS spectrum whereas some other probably have yet unidentified inflammatory demyelinating disorders.Our objectives were to describe those patients with atypical MS and atypical idiopathic inflammatory demyelinating disorders.We retrospectively gathered clinical and radiological (in a real-life setting) data from patient to better delineate diagnostic clues and to better assess prognosis of these patients. Moreover, a neuropathological analysis of patients’ tissue collected for diagnostic uncertainties was performed to assess AQP4 staining in patients with acute atypical inflammatory demyelinating disease. Finally, we characterized the expression of the activating receptor NKp46 within astrocytes in MS and other inflammatory neurological diseases.Our main results were the following:1) in the absence of any other lesion suggestive of MS, the overall risk of MS diagnosis and typical MS relapse is low.2) MS, notably primary progressive or bout-onset MS, can share MRI characteristics with inherited leukoencephalopathies and leukodystrophies. In this context, a thorough analysis of deep and cortical gray matter, topography of white matter lesions and size (typically nodular > 3mm but not confluent) strongly argues in favor of MS.3) In spite of a marked heterogeneity of central nervous system inflammatory demyelinating lesions, some characteristics such as a peripheral B1000 hyperintensity with open rim gadolinium enhancement (with or without central enhancement) and gray matter sparing are common to all of these conditions. Moreover, neuropathological analysis of these lesions suggests a systematic normal/increased AQP4 staining.4) NKp46 astrocytic expression, a classical NK cells marker is common to several neuroinflammatory diseases including MS, NMOSD and other inflammatory demyelinating disorders. To date, we were not able to ascertain NKp46 involvement in the context of neuroinflammation.To conclude, our analysis enabled to refine clinical, neuropathological and MRI characteristics of patients with atypical MS and atypical inflammatory demyelinating disorders.The identification of “clusters” of atypical MS with dramatic disability progression and early evidence of neurodegeneration should allow us to identify promising MRI and/or biological biomarkers of disease progression.

Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing demyelinating neurological condition that requires prompt diagnosis and treatment to prevent the accrual of significant disability, such as blindness and immobility. It is caused by antibodies to the aquaporin-4 water channel, which can be detected within the serum of patients and are therefore a highly specific biomarker for the condition. However NMOSD can have overlapping clinical features with the more prevalent demyelinating disease relapsing remitting multiple sclerosis (RRMS). Thus in the situation of a negative aquaporin-4 antibody assay result diagnostic distinction can be difficult to achieve. This in turn leads to a treatment dilemma as NMOSD requires long term immunosuppression, and disease modifying therapies used in RRMS can worsen disease activity in NMOSD. The work presented in this thesis aimed to find further biomarkers of NMOSD, focusing on conventional and quantitative magnetic resonance imaging, and markers of neurodegeneration. The principle findings are: <ul><li>Lesion probability mapping analysis revealed that T2 lesion distribution and morphology can distinguish RRMS from NMO with a 92% sensitivity and 96% specificity. Radiological criteria to aid diagnosis have been proposed.</li><li>Quantitative imaging methods that provide complementary micro-structural measures within CNS tissue have shown that RRMS is associated with widespread neurodegenerative changes in the normal appearing tissue, where as NMO is lesion focused.</li><li>NMO is not associated with diffuse global neurodegeneration in the non-lesioned CNS tissue over a one-year period as determined by serial MRI.</li><li>Normalised thalamic and whole brain volume can be used in a function to help discriminate NMOSD and RRMS</li></ul> This thesis therefore contributes the knowledge that conventional and quantitative imaging can distinguish NMOSD and RRMS, and provides practical methods in which to apply this to patient management. It is the first longitudinal quantitative imaging study of NMOSD and lends further proof that global or diffuse neurodegeneration of the normal appearing brain or spinal cord tissue is not a feature of this condition.

Cognitive impairment in amyotrophic lateral sclerosis (ALS) is characterized by deficits on tests of executive functions however the contribution of processing speed is unknown. By contrast, multiple sclerosis (MS) is a disorder in which slowed processing speed is regarded as the core deficit, however, methodology is often confounded by tasks which depend on motor speed. MRI studies have revealed multi-system cerebral involvement in ALS, with evidence of reduced white matter volume and integrity in predominantly frontotemporal regions. The current study had two aims. Firstly, to investigate whether cognitive impairments in ALS and MS are due to executive dysfunction or slowed processing speed, independent of motor dysfunction. Secondly, to investigate the relationship between specific cognitive impairments and the integrity of distinct white matter tracts in ALS. Twenty-nine ALS patients, twenty-five MS patients, and matched healthy control groups were administered a dual task paradigm and processing speed tasks in which stimulus presentation times were manipulated. In addition background measures of executive functioning, working memory, verbal memory, and language were administered. White matter integrity was investigated using region-of-interest (ROI) and tract based spatial statistics (TBSS) analyses of diffusion MRI data. ALS patients did not show impairments in tests of processing speed, but deficits were revealed in the dual task, as well as background tests of executive functioning, working memory, and verbal memory. MS patients also exhibited deficits in the dual task as well as background tests of executive functioning, working memory, and verbal memory. However, in contrast to ALS patients, a processing speed deficit was also observed in MS. ROI analyses revealed significant differences in fractional anisotropy (FA) and mean diffusivity (<D>) between ALS patients and healthy controls. Reduced integrity was observed in the corticospinal tracts and prefrontal and temporal white matter tracts including uncinate fasciculus, inferior longitudinal fasciculus, and regions of the cingulum. Significant differences also emerged in the white matter underlying the superior, medial and inferior frontal gyri, and the temporal gyri. Similar group differences were found in the TBSS analyses; ALS patients displayed prominent changes in the corticospinal tract and corpus callosum as well as extensive changes in prefrontal and temporal tracts and association fibres. Correlations between task performance and ROI parameters revealed that dual task performance was associated with FA in the middle frontal gyrus white matter while letter fluency indices correlated with FA in the corpus callosum and corticospinal tracts. Furthermore, verbal memory performance correlated with FA in the inferior longitudinal fasciculus and working memory performance correlated with <D> in uncinate fasciculus and hippocampal portion of the cingulum. Correlations with TBSS revealed significant associations between letter fluency indices and FA in the corticospinal tracts and anterior corpus callosum. The current study demonstrates that cognitive impairment in ALS is not due to slowed processing speed. Moreover dual task deficits are related to distinct prefrontal tract involvement in ALS, whilst fluency deficits may reflect decreasing callosal integrity. Deficits in working memory and verbal memory are related to white matter changes in fibre bundles connecting prefrontal, temporal, and limbic structures.