Tesi sul tema "Amyotrophic lateral sclerosis – patients"
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Bradley, Lloyd John. "Mitochondrial abnormalities in remote tissues of patients with amyotrophic lateral sclerosis". Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1445375/.
Testo completoKasi, Patrick K. "Characterization of motor unit discharge rate in patients with amyotrophic lateral sclerosis". Worcester, Mass. : Worcester Polytechnic Institute, 2009. http://www.wpi.edu/Pubs/ETD/Available/etd-050409-062647/.
Testo completoLee, Rena J. "Study of trace and minor elements in ALS (amyotrophic lateral sclerosis) patients". Thesis, Massachusetts Institute of Technology, 1994. http://hdl.handle.net/1721.1/36492.
Testo completoOudenot, Hélèna. "Indirect Estimation of Persistent Inward Currents in Patients with Amyotrophic Lateral Sclerosis". Thesis, KTH, Tillämpad fysik, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-192844.
Testo completoTeyssou, Elisa. "Analyses génétiques et fonctionnelles de nouveaux gènes incriminés dans la Sclérose Latérale Amyotrophique (SLA) Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients". Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066738.
Testo completoThe fatal Amyotrophic Lateral Sclerosis (ALS) motor neuron disease is characterized by the degeneration of upper and lower motor neurons. Most ALS cases are sporadic (SALS) whereas ~10% are familial (FALS). A growing number of genes has been identified in ALS and represent 70% of FALS and 10% of SALS. The aims of this project were to analyze the contribution of 6 rare genes in a large population of French ALS patients and to study the pathogenic impact of some identified variants.The first part of this work was dedicated to the genetic analysis of MATR3, CHCHD10, SS18L1, SQSTM1, UBQLN2 and PFN1 genes. No causing variants were identified for MATR3 and CHCHD10 while 2 new variants, probably pathogenic, were identified for SS18L1, as well as 4 mutations for SQSTM1, 5 for UBQLN2 and 2 already reported mutations for PFN1. These analyses also highlighted a genetic overlap between ALS and other diseases: the Paget disease of bone for SQSTM1 and spastic paraplegia for UBQLN2. The second part of this work was to study the pathogenicity of some of the mutations identified in SQSTM1, UBQLN2 and PFN1 genes using analyses of (i) inclusions in ALS patient post-mortem tissue, (ii) protein expression and degradation pathways in patient lymphoblasts and/or (iii) cellular consequences after in vitro and in vivo overexpression. Our results showed prominent aggregation of mutant SQSTM1 (involved in autophagosomes formation), impaired lysosomal degradation and disrupted protein binding to HSP70 for mutant UBQLN2 and deregulated alternative autophagy and mitophagy pathways for mutant PFN1. Our results (i) precised the contribution of several genes in French ALS patients, (i) documented the genetic overlap between ALS and other diseases and (iii) highlighted the role of protein degradation pathways, especially autophagy, in the pathogenesis of ALS
Lemoignan, Josée. "Decision-making for assisted ventilation in amyotrophic lateral sclerosis". Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101862.
Testo completoAchille, Marie A. "Attitudes toward assisted suicide among patients with amyotrophic lateral sclerosis and their caregivers". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0023/NQ51830.pdf.
Testo completoCamara, Mafalda Dias de Medeiros Vale da. "Coherence and phase locking disruption in electromyograms of patients with amyotrophic lateral sclerosis". Master's thesis, Faculdade de Ciências e Tecnologia, 2013. http://hdl.handle.net/10362/10950.
Testo completoIn motor neuron disease, the aim of therapy is to prevent or slow neuronal degeneration and early diagnosis is thus essential. Hypothesising that beta-band (15-30 Hz) is a measure of pathways integrity as shown in literature, coherence and PLF could be used as an electrophysiological indicator of upper and lower neuron integrity in patients with ALS. Before further analysis, synthetic EMG signals were computed to verify the used algorithm. Coherence and PLF analyses were performed for instants of steady contraction from contra and ipsilateral acquisitions. Ipsilateral acquisitions were performed for one member of each group and results present significant differences between both groups. Contrarily, contralateral acquisitions were performed on 6 members of each group and results present no significant differences. PLF analysis was computed for ipsilateral acquisitions and, similarly to coherence, results show significant differences between both groups. PLF was also analysed for contralateral acquisitions, and results show no significant differences within groups, as expected since no coherence was found for the same acquisitions. So, while control subjects present no neuronal or muscular problems and therefore higher synchrony and coherence for beta-band frequencies, patients with ALS do not present synchronism or coherence in any frequency, specially for beta-band. All results allowed to conclude that contralateral coherence is not a good measure of corticospinal pathways integrity. However, ipsilateral acquisitions show promising results and it is possible to affirm that ipsilateral measurements may reflect neuronal degeneration. For future work is suggested a deeper analysis of PLF, that appear to have potential as a quantitative test of upper and lower neuron integrity related to ALS.
BENEDETTI, S. DE. "SPORADIC AMYOTROPHIC LATERAL SCLEROSIS IN PATIENTS WITH COMMON GEOGRAPHICAL ORIGIN: A MULTIDISCIPLINARY STUDY". Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/486489.
Testo completoOsei-Lah, Abena Dansoa. "Intracortical excitability is altered in patients with amyotrophic lateral sclerosis : a transcranial magnetic stimulation study". Thesis, King's College London (University of London), 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.415039.
Testo completoFomina, Tatiana [Verfasser], e Moritz [Akademischer Betreuer] Grosse-Wentrup. "Brain-Computer Interfaces for patients with Amyotrophic Lateral Sclerosis / Tatiana Fomina ; Betreuer: Moritz Grosse-Wentrup". Tübingen : Universitätsbibliothek Tübingen, 2017. http://d-nb.info/1165507064/34.
Testo completoRUSCONI, MICHELA. "Activation state and functionality of dendritic cells from peripheral blood of amyotrophic lateral sclerosis patients". Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/153236.
Testo completoSeveral published data highlight the importance of inflammation for neurodegeneration in Amyotrophic lateral sclerosis (ALS) with an increased spinal cord recruitment of peripheral proinflammatory monocytes, dendritic cells (DCs) and T cells found in patients and animal models. To date no clear data are available regarding the functional state of DCs in peripheral blood of ALS patients.The aim of the present study was to examine circulating DCs in a large cohort of ALS patients taking into account their clinical phase in order to lay the basis to understand how these cells contribute to disease progression. To do this, we performed ex vivo analyses of the frequency and expression of costimulatory, MHC and migratory mole¬cules of CD1c+ DC subsets and we investigated the capacity of purified DCs to spontaneously produce inflammatory cytokines and to respond to the TLR agonist, lipopolysaccharide (LPS). We enrolled 72 ALS patients, 47 healthy donors and 25 Patients affected by neurological disorders unrelated with ALS stratified for age and sex. DC numbers and their phenotype were investigated by cytofluorimetric analyses. We found that ALS patients have much lower number of circulating DCs (identified as CD1c+ and CD19-) compared with healthy donor, and their DCs show an increased expression of the integrin CD62L. Since this integrin is required for the recruitment of leukocytes to secondary lymphoid organs or to inflammatory sites, these observations confirmed that in ALS patients DCs are actively recruited in the central nervous system with a mechanism presumably involving the CD62L molecule. We then analysed the spontaneous o LPS-induced production of inflammatory cytokines such as TNFα, IL1β, IL6, IL8, IL10 and CCL2. We noticed a subpopulation of ALS patients with a higher spontaneous and LPS-induced IL8 production. These patients, interestingly, also showed higher efficiency of CCL2 secretion. Although we could not define a correlation between the higher efficiency of these inflammatory cytokine production and disease progression, high levels of CCL2 have been shown in the spinal cord of SOD mice, a mouse model of a subclass of ALS disease, and in some ALS patients. According to our results, DCs can be a source of CCL2 in the spinal cord in a subpopulation of ALS patients. This observation suggests that a simple peripheral blood analysis can be sufficient to identify subgroups of ALS patients. We, thus, analysed the correlation between the levels of any single cytokines in ALS patients before and after LPS exposure and some disease parameters.We observed a significant inverse correlation between the time from onset to diagnosis and the ΔIL6 levels, suggesting that an increased efficiency of IL-6 production in ALS patients may accelerate the initial phases of the disease.In conclusion, DCs are one of the major cell subset recruited to the central nervous system at least in some ALS patients. Although the majority of activated DCs may migrate to the central nervous system, some differences are still observable in the peripheral blood. Based on our results, peripheral blood DC analyses can be useful to stratify patients in those that have a high inflammatory response versus those that do not show an altered inflammatory pathway.Given the high heterogeneity of ALS disease we could not observe for the moment significant correlations with disease parameters, nevertheless a more refined analysis based on specific criteria is likely to be informative on some particular disease aspects.The high levels of CD62L expression by peripheral blood DCs suggest that this molecule could be a possible target for in vivo treatment. To this regard, we are planning to perform a preclinical study in SOD mice to verify if a treatment with a blocking anti-CD62L antibody could interfere with disease progression.
Riera-Punet, Nina. "Alterations in the masticatory system in patients with amyotrophic lateral sclerosis and its management with an oral appliance". Doctoral thesis, Universitat de Barcelona, 2019. http://hdl.handle.net/10803/667061.
Testo completoINTRODUCCIÓN: La esclerosis lateral amiotrófica (ELA) es una enfermedad neurodegenerativa caracterizada por la degeneración progresiva de las neuronas motoras inferiores (MNI) y superiores (MNS). OBJETIVOS: El objetivo principal de esta tesis ha sido investigar las alteraciones y limitaciones funcionales del sistema masticatorio en pacientes con ELA. La tesis se ha basado en la integración de tres artículos. MATERIAL Y MÉTODOS: Los dos primeros estudios evaluaron 153 pacientes con ELA y 23 sujetos control. En el primer estudio se aplicó el protocolo de criterios diagnósticos para trastornos temporomandibulares (DC/TMD) y un cuestionario para evaluar aspectos de la disfunción masticatoria y la frecuencia de lesiones orales traumáticas por mordisqueo involuntario. Se determinó la fuerza de mordida y la fuerza muscular entre los dedos pulgar e índice. En el segundo estudio se utilizó la escala de limitación funcional de la mandíbula (JFLS-8). El tercer estudio incluyó a once pacientes con ELA a los que se les colocó un dispositivo intraoral y se valoró el grado de satisfacción y la mejoría en su calidad de vida con el tratamiento. RESULTADOS: En el primer estudio los pacientes con ELA presentaron una reducción en los movimientos mandibulares, en la fuerza de mordida y en la fuerza muscular entre los dedos pulgar e índice. En el segundo estudio, los pacientes con ELA bulbar informaron mayores dificultades para masticar y movilidad mandibular reducida en comparación con el grupo de ELA sin afectación bulbar. Los participantes del tercer estudio informaron una media de un 61% de mejoría con respecto al motivo de consulta y una media del 84% de satisfacción con el dispositivo intraoral. CONCLUSIONES: Los pacientes con ELA presentaron una reducción en la fuerza muscular entre los dedos pulgar e índice y en la fuerza de mordida, un rango de movimiento mandibular reducido y mayor frecuencia de lesiones orales traumáticas por mordisqueo involuntario. La afectación bulbar en estos pacientes está asociada a una limitación funcional del sistema masticatorio. La satisfacción de los pacientes con ELA con un dispositivo oral para controlar las lesiones orales traumáticas por mordisqueo involuntario o los síntomas relacionados con TMD fue alta.
Wagner, Karin Nicole. "Amyotrophic Lateral Sclerosis and Genetic Testing: A Perspective from the ALS Community". The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1459354988.
Testo completoTarlarini, C. "MOLECULAR AND GENETIC CHARACTERIZATION OF ALS PATIENTS". Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/232574.
Testo completoMesaros, Maysen. "Investigating the Genetic Profile of Amyotrophic Lateral Sclerosis in Patients of Diverse Race, Ethnicity, and Ancestry (REA)". The Ohio State University, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=osu1618934315464032.
Testo completoGoggin, Emily Clare Sither. "THE IMPACT OF DYSPHAGIA AND GASTROSTOMY ON QUALITY OF LIFE IN CAREGIVERS OF PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS". UKnowledge, 2019. https://uknowledge.uky.edu/commdisorders_etds/14.
Testo completoFolkesson, Sara, e Maja Svensson. "Patienters upplevelser av sjukdomen amyotrofisk lateralskleros : En studie av självbiografier". Thesis, University of Skövde, School of Life Sciences, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-4101.
Testo completoUngefär 200 personer insjuknar årligen i sjukdomen amyotrofisk lateralskleros (ALS), vilket ses som en ökning de senaste 30 åren. Att insjukna i en obotlig sjukdom bidrar till både fysiskt och psykiskt lidande. Det är viktigt att förstå patienters upplevelser av sjukdomen vilket det saknas information om. Syftet var att utifrån självbiografier, beskriva patienters upplevelser av att leva med ALS. En kvalitativ innehållsanalys beskriven av Lundman och Hällgren Graneheim gjordes. Datamaterialet bestod av sju självbiografier. Ur datamaterialet urskiljdes patienters känslor och upplevelser kring sjukdomen ALS i form av sex kategorier med tillhörande underkategorier. Kategorierna som framkom var; svårigheter kring den begynnande sjukdomen, tankar kring döden, sorg, bristande självkänsla, att känna sig utlämnad och att få insikt i sin sjukdom. Informanternas beskrev upplevelserna olika eftersom det fanns variationer av varje individs sjukdom. Att slutligen kunna se positiva stunder trots sin sjukdom var betydande. Ingen vet bättre än patienten själv hur den mest uppskattade omvårdnaden kan ges. Därför är det av vikt att lyssna på patienters upplevelser och deras egen berättelse av den upplevda sjukdomen. Erfarenheterna av sjukdomen var av olika karaktär men likheter kunde ses där många upplevelser var återkommande hos de flesta informanterna.
About 200 persons become ill annually with the illness amyotrophic lateral sclerosis (ALS), which can be seen as an increase in the last 30 years. Falling ill in an incurable illness contributes to both physical and psychological suffering. It is important to understand the patient’s experiences of the illness and this is a field where there is little or no information available. The aim of this study was to describe the patients’ experiences of living with ALS from autobiographies. A qualitative content analysis described by Lundman and Hällgren Graneheim was performed. The data material consisted of seven autobiographies. From the data material patient’s feelings and experiences of the illness ALS was discerned in terms of six categories with associated subcategories. The categories were; difficulties of the emerging illness, thoughts about death, sadness, lack of self esteem, to feel deserted and to reach insight into their own illness. The informants described experiences differently due to individual variations of illness. To eventually be able to see positive moments despite the illness was significant. No one knows better than the patient how the most appreciated nursing care should be. Therefore it is of importance to listen to patients’ own experience of the illness. The experiences of the illness varied but similarities could be seen where many experiences were recurrent among most informants.
Perez, Numa P. "Defining an Electrophysiological Phenotype and Increasing Survival in Amyotrophic Lateral Sclerosis Patient-Derived Motor Neurons". Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17295886.
Testo completoChatzoudis, Susanne, e Anette Wikström. "Personers erfarenheter av att leva med ALS : En beskrivande litteraturstudie". Thesis, Högskolan i Gävle, Avdelningen för hälso- och vårdvetenskap, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-22829.
Testo completoBackground: Amyotrophic lateral sclerosis (ALS) belongs to a group of motor neuron diseases. It is an incurable neurological disease that affects approximately 200 people per year in Sweden. The involuntary muscles of the body atrophies which causing the person problems to speak and breath. The disease progression varies depending on the version of motor neuron disease the person suffering, at ALS person usually dies within 5 years. Aim: The purpose of this study was to describe people's experiences of living with ALS and describe the study group of the included scientific articles. Method: A descriptive literature study consisting of 11 qualitative articles. Main Results: Some patients were not satisfied with the hospital care, they were met by ignorant staff and were sent between different care units before a diagnosis could be decided. At the end the patients themselves were searching for answers themselves. Patients describe several negative feelings diagnosed with ALS. During the progression of the disease even positive emotions came and encouraged the patients continue to struggle. Patients used different strategies like existential thoughts, acceptance of aid and help from outside caregiver. Support from family and friends were important to cope with the disease and the expected death. Conclusions: People who suffer from ALS experienced an emotional roller coaster, which commuted between positive and negative feelings. For many patients, it was important to take one day at a time to find meaningfulness. The experience from the illness is individual from ALS and it is important that the nurse uses the person-centered care. It is important that the nurse learn from the patients and relatives experience to preserve the integrity and autonomy.
Liu, Jingyu [Verfasser], Julian [Gutachter] Großkreutz, Andreas [Gutachter] Hochhaus e Andreas [Gutachter] Hochhaus. "Calcium dysregulation in mononuclear cells from patients with Amyotrophic lateral sclerosis / Jingyu Liu ; Gutachter: Julian Großkreutz, Andreas Hochhaus, Andreas Hermann". Jena : Friedrich-Schiller-Universität Jena, 2018. http://d-nb.info/1170398510/34.
Testo completoJackson, Mandy. "Screening of familial and sporadic amyotrophic lateral sclerosis patients for mutations in CuZn superoxide dismutase (SOD-1) and other candidate genes". Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363787.
Testo completoCartemo, Maria, Frida Starck e Elin Larsson. "Hur vardagslivet gestaltar sig hos patienter med diagnosen ALS och MS : En studie gjord för att öka kunskapen och förståelsen hos sjuksköterskan". Thesis, University of Skövde, School of Life Sciences, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-1060.
Testo completoAmyotrofisk 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.
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.
Björnstedt, Annhild, e Sofie Redner. "Patienters upplevelser av att leva med Amyotrofisk Lateral Skleros : En litteraturstudie". Thesis, Ersta Sköndal Bräcke högskola, Institutionen för vårdvetenskap, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-8044.
Testo completoBackground: Amyotrophic Lateral Sclerosis is a terminal progressive disease in which themotor neurons in the brain, brainstem and spinal cord breaks down and dies. As a result of this the muscles becomes under stimulated and atrophies which leads to paralysis. The majority of persons suffering from Amyotrophic Lateral Sclerosis die within five years. Between 10-20 percent live longer than ten years from the onset of the disease. Being diagnosed with Amyotrophic Lateral Sclerosis causes a shock and leads to a sweeping life change. Since there is no cure, it is important that people with Amyotrophic Lateral Sclerosis are offered individualized care as well as psychosocial and existential support in order to relieve symptoms and strengthen the patient’s quality of life. Aim: The aim was to describe patients’ experiences of living with Amyotrophic Lateral Sclerosis. Method: Literature study based on existing research in the field. Ten articles on care science have been used from the databases CINAHL Complete and MEDLINE. The procedure has been carried out according to Friberg's method. Results: The result featured three themes and four subthemes that described different aspects of living with Amyotrophic Lateral Sclerosis. The themes that were identified were: life falls apart with subthemes loss of abilities and loss of meaning, rebuilding life with subthemes acceptance and adaptation and finding meaning and decisions about care. Living with Amyotrophic Lateral Sclerosis meant grief, insecurity and fear as well as a feeling that life had lost meaning. The progression of the disease led to a constant decision-making process regarding care. The family's participation in health care decisions was meaningful, but also caused feelings of duty. The loss of physical abilities led to fear of completely losing control in life and becoming dependent on others but also fear of death itself. Despite this, the participants were able to accept and adapt to the disease allowing them to find new meaning and experience quality of life. Discussion: The results were discussed on the basis of further research and Callista Roy's adaptation model, which is about people's ability to adapt. The parts highlighted in the discussion were acceptance, adaption, autonomy and feelings of duty.
DEMURU, MATTEO. "Topology matters: characteristics of functional brain networks in healthy subjects and patients with Epilepsy, Diabetes, or Amyotrophic Lateral Sclerosis during a resting-state paradigm". Doctoral thesis, Università degli Studi di Cagliari, 2015. http://hdl.handle.net/11584/266613.
Testo completoSamuelsson, Johanna, Sofie Johansson e Frida Jason. "Patienters upplevelse av omvårdnaden vid Amyotrofisk lateral skleros". Thesis, Högskolan i Halmstad, Akademin för hälsa och välfärd, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-33823.
Testo completoAmyotrophic lateral sclerosis (ALS) is a generic name for various neurological and incurable diseases characterized by the breakdown of the motor nervous system. Symptoms such as muscle weakness occur gradually and causes respiratory failure and paralysis. Today there is no cure for ALS, but instead are the sight on symptom relief. In order to provide good care to patients with ALS, it is important to increase knowledge and understanding of health care, which can lead to a better quality of life. The purpose of this study was to examine how patients with ALS experience nursing care during illness. The method used was a literature review based on 11 scientific articles. The result appeared in three categories; to be co-creators in their care which involved patients felt that decision making, control and lack of knowledge affected the care. To get individualized care meant to get support, time and good treatment. Patients felt that they become dependent on nursing felt as a burden and powerless. It is important with research that examines how patients with ALS experience care as current research mainly focuses on how patients experience the disease.
Andrews, Jinsy A., Lisa Meng, Sarah F. Kulke, Stacy A. Rudnicki, Andrew A. Wolff, Michael E. Bozik, Fady I. Malik e Jeremy M. Shefner. "Association Between Decline in Slow Vital Capacity and Respiratory Insufficiency, Use of Assisted Ventilation, Tracheostomy, or Death in Patients With Amyotrophic Lateral Sclerosis". AMER MEDICAL ASSOC, 2018. http://hdl.handle.net/10150/626557.
Testo completoHewamadduma, Channa. "Investigation of the role of TDP-43 in amyotrophic lateral sclerosis (ALS) using patient derived fibroblasts and zebrafish as models". Thesis, University of Sheffield, 2014. http://etheses.whiterose.ac.uk/7134/.
Testo completoArosenius, Maria, e Lidh Linnéa Holmqvist. "En kamp mot tiden : Att uppleva livskvalitét och välbefinnande vid den obotliga sjukdomen ALS". Thesis, Högskolan i Halmstad, Sektionen för hälsa och samhälle (HOS), 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-24227.
Testo completoAmyotrophic lateral sclerosis (ALS) is an incurable, neurological disease characterized by a progressive degeneration of the motor nervous system. The symptoms of the disease are progressive muscle weakness that eventually causes paralysis and respiratory failure. The survival time from the onset of the disease is two to five years. There is currently no cure for ALS and treatment consists of symptomatic relief. The aim of the study was to illuminate quality of life and well-being in patients with the incurable disease ALS. The method used was a literature review based on thirteen scientific articles that were analyzed and compiled. The results revealed four themes; the importance of physical deterioration and loss of bodily function, the importance of support from family, friends and caregivers, the importance of living in the present and ignore the future and the importance of feeling hope and maintain a positive outlook on life. It is significant that more qualitative studies are being made, studies that explore patients' individual experiences of living with the disease ALS.
Marin, Andrei Vlad [Verfasser]. ""Observing the brain through the eye" : a longitudinal study on amyotrophic lateral sclerosis patients using optical coherence tomography and magnetic resonance imaging / Andrei Vlad Marin". Ulm : Universität Ulm, 2020. http://d-nb.info/1218168528/34.
Testo completoBergqvist, Lisen, e Sofie Johansson. "ATT BLI FÅNGE I SIN EGEN KROPP : En litteraturstudie om patienters upplevelser av välbefinnande vid ALS". Thesis, Högskolan i Skövde, Institutionen för hälsa och lärande, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-10946.
Testo completoOlander, Carolina, e Anette Schoberg. "Patienters upplevelser av att leva med amyotrofisk lateralskleros". Thesis, Högskolan i Halmstad, Akademin för hälsa och välfärd, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-36889.
Testo completoStarck, Camilla, e Carolina Wahlgren. "Support and encounter of patients with ALS and those who are close to them - A litterature review". Thesis, Malmö högskola, Fakulteten för hälsa och samhälle (HS), 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-26121.
Testo completoIn the present time amyotrophic lateral sclerosis (ALS) is an untreatable disease and the course of the disease is often very fast. Nursing of the patients has to be specific. Purpose: The purpose of this literature study was to elucidate caregivers encounter of patients with an untreatable disease like ALS and those who are close to the patients. Method: To answer our research questions we have chosen to do a literature study witch is based on ten scientific articles. The articles were quality rated using Carlsson and Eimans ratingscale for qualitative and quantitative studies. As a frame of reference we used a model by Carnevali. Result: To be one of those who are close to the patients with ALS can affect them in a negative way in their daily life. All patients and those who are close to them have to be encountered by their own needs and individual information is an important part of nursing. Conclusion: From our result we made the conclusions that all patients and those who are close to them are individuals and should be encountered by their personal needs.
Timmer, Katharina [Verfasser], Jörg T. [Gutachter] Epplen e Bernd [Gutachter] Eiben. "Screening for mutations in the genes VCP and KIAA0196 in patients with frontotemporal dementia and amyotrophic lateral sclerosis / Katharina Timmer. Gutachter: Jörg T. Epplen ; Bernd Eiben". Bochum : Ruhr-Universität Bochum, 2016. http://d-nb.info/1102525391/34.
Testo completoGarcia, Natasha E. "PURPOSE IN LIFE IN ALS PATIENT-CAREGIVER DYADS: A MULTILEVEL LONGITUDINAL ANALYSIS". UKnowledge, 2015. http://uknowledge.uky.edu/psychology_etds/65.
Testo completoHelming, Kristérn Emelie, e Malin Nordström. "Upplevelsen av Amyotrofisk lateralskleros : En litteraturstudie ur ett patientperspektiv". Thesis, Linnéuniversitetet, Institutionen för hälso- och vårdvetenskap (HV), 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-76839.
Testo completoVOLPE, CLARA. "EPIGENETIC MARKS AND PATHOLOGICAL FEATURES ASSOCIATED TO MUTANT C9ORF72 GENE IN AMYOTROPHIC LATERAL SCLEROSIS: AN IN VITRO STUDY IN PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS AND MOTOR NEURONS". Doctoral thesis, Università degli Studi di Milano, 2020. http://hdl.handle.net/2434/704314.
Testo completoByström, Julia, e Emma Larsson. "Att leva med djävulens sjukdom (ALS) och behovet av livsförlängande behandling : en litteraturöversikt". Thesis, Ersta Sköndal Bräcke högskola, Institutionen för vårdvetenskap, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-6554.
Testo completoBackground: Amyotrophic lateral sclerosis (ALS) is an unusual disease where the disease progress can be very fast. It is common for patients with ALS to receive life-sustaining treatments to prolong their lives and improve their quality of life. Different types of treatment are used for this group of patients, those described are ventilation and nutritional treatment with gastrostomy. Self-determination, health and quality of life are components of value to understand the patient's perspective. Aim: The aim was to describe how it is to live with life-prolonging treatment with the disease ALS. Method: A literature review was conducted with scientific articles to highlight the current state of knowledge in the field. Friberg's methodology and method of analysis were used. Twelve scientific articles were used from several countries in the result. Results: The results are presented in main themes with associated subthemes. Theme one: Decision making for treatment includes the role of the patient in decision making and the meaning of health care in decision making. Theme two: Accepting treatment is a process. Theme Three: Being in the present and continuing on with treatment includes being in the present and living on. Discussion: The theoretical basis used was Virginia Henderson and her theory of needs in the basic healthcare. This essay shows what patients express as important when they are faced with decisions about life-prolonged treatment. Having self-determination, having control and that the care must be trustworthy are important. The acceptance process, support and the opportunity to live on are important for the meaningfulness of patients.
Ekholm, Regina Johansson Zandra. "ALS - bokstäverna som förändrar livet". Thesis, Linnéuniversitetet, Institutionen för hälso- och vårdvetenskap (HV), 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-79816.
Testo completoDrbal, Abed Alnaser A. A. "Studies on Bioactive Lipid Mediators Involved in Brain Function and Neurodegenerative Disorders. The effect of ¿-3PUFA supplementation and lithium treatment on rat brain sphingomyelin species and endocannabinoids formation; changes in oxysterol profiles in blood of ALS patients and animal models of ALS". Thesis, University of Bradford, 2013. http://hdl.handle.net/10454/6285.
Testo completoLibyan Government
Drbal, Abed Alnaser Anter Amer. "Studies on bioactive lipid mediators involved in brain function and neurodegenerative disorders : the effect of ω-3PUFA supplementation and lithium treatment on rat brain sphingomyelin species and endocannabinoids formation : changes in oxysterol profiles in blood of ALS patients and animal models of ALS". Thesis, University of Bradford, 2013. http://hdl.handle.net/10454/6285.
Testo completoJohansson, Monika, e Carina Thomsen. "Omvårdnad vid andningsproblematik och sväljproblematik hos ALS patienter". Thesis, Högskolan Dalarna, Omvårdnad, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:du-4200.
Testo completoHille, Jan Matthias. "Die Trinukleotid-Expansion des Gens für zelluläre Glutathion-Peroxidase bei Patienten mit sporadischer amyotropher Lateralsklerose". Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2003. http://dx.doi.org/10.18452/14952.
Testo completoIn spite of intensive research efforts the ethiology of sporadic amyotrophic lateral sclerosis (sALS) remains unknown. Various indices indeed suggest an involvement of oxidative stress in the pathogenesis of sALS. Thus a decreased activity of the cellular glutathione peroxidase (GPX-1) in gyrus praecentrales of sALS patients could be detected, an enzym strongly participating in the clearence of free radicals. Additional studies uncovered a trinucleotid expansion of a GCG repeat in the 1st exon of the gene coding for GPX-1. Such trinucleotid expansions play a major role in a variety of neurodegenerative disorders like the Kennedy Syndrom and spinal-cerebellary ataxia. Goal of this work was to disclose a possible involvement of the GCG expansion in the pathogenesis of sALS. Through the successful establishment of the methodology consisting of a combination of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) we could demonstrate a significant decrease of the genotype 4*5 in a group of 231 sALS patients, whereas the genotype 5*6 was overrepresented in the control group. Compared to hitherto publications we detected an increased occurrence of the 4*4 genotype in the control group. Besides an effective increased risk to contract sALS, the distribution of the GCG-repeat expansion could originate from another C/T polymorphism of GPX-1-gene leading to a substitution of proline with leucine. The leucine coding mutation occurs together with 5 GCG repeats, whereas the proline coding mutant correlates with 4 and 6 GCG-repeats.
Günther, Rene, Nicole Richter, Anna Sauerbier, Kallol Ray Chaudhuri, Pablo Martinez-Martin, Alexander Storch e Andreas Hermann. "Non-Motor Symptoms in Patients Suffering from Motor Neuron Diseases". Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2017. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-217311.
Testo completoGünther, Rene, Nicole Richter, Anna Sauerbier, Kallol Ray Chaudhuri, Pablo Martinez-Martin, Alexander Storch e Andreas Hermann. "Non-Motor Symptoms in Patients Suffering from Motor Neuron Diseases". Frontiers Research Foundation, 2016. https://tud.qucosa.de/id/qucosa%3A30109.
Testo completoCic, Ella, e Camilla Kulmala. "Patienters upplevelse av att leva med ALS : en litteraturöversikt". Thesis, Sophiahemmet Högskola, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:shh:diva-3764.
Testo completoBackground: ALS is an incurable neurological disease that leads to muscle deterioration following a degrading process in the nervous system. There is a hereditary component, but in many cases it is not possible to determine the cause behind the onset of the disease. Being diagnosed with an incurable disease in which bodily functions decline at the same time as the cognitive abilities and tactile sense remains often results in great suffering for the patients. Describing patients' experiences of the disease can increase understanding and create an opportunity to approach suffering. Aim: The aim was to describe patients' experiences of living with ALS. Method: The study is a literature review based on 15 articles. These were found in the databases PubMed and CINAHL. The articles were reviewed with the use of Sophiahemmets Högskola's form for quality review and were analyzed through integrated analysis. Results: From the analysis three categories appeared: “The experience of powerlessness”, “The experience of being a burden” and “The experience of adapting to a new existence”. The results showed that patients with ALS experienced suffering that they themselves described in different terms, but they also portrayed positive experiences and how they developed strategies to manage their new situation. Conclusions: This literature review describes how patients with ALS manage their reality, which differs to some extent. The suffering that the patients experience may be part of personal development, while there is a risk that the entire life perspective will be adversely affected if the patients become stuck in the suffering. The nurse plays an important role in relieving patients suffering and the literature review informs how a person-centered approach, which includes, among other things, responsiveness to how patients experience their lives, can contribute to this.
Helmersson, Katarina, e Ingrid Järpfält-Svensson. "ALS : Upplevelser av att leva med ALS". Thesis, Högskolan i Borås, Institutionen för Vårdvetenskap, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:hb:diva-19346.
Testo completoProgram: Fristående kurs
Flowers, Joanna Mary. "Molecular studies in amyotrophic lateral sclerosis". Thesis, King's College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397027.
Testo completoSchymick, Jennifer. "The genetics of amyotrophic lateral sclerosis". Thesis, University of Oxford, 2009. http://ora.ox.ac.uk/objects/uuid:f68f15c2-2875-46ba-bf25-8324c1dead91.
Testo completoTjust, Anton. "Extraocular Muscles in Amyotrophic Lateral Sclerosis". Doctoral thesis, Umeå universitet, Anatomi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-129638.
Testo completoAmyotrofisk lateralskleros (ALS) är en obotlig neurodegenerativ sjukdom som främst påverkar kroppens viljestyrda motoriska nervceller. ALS leder till förlamning, muskelförtvining och slutligen döden genom andningssvikt, vanligen inom tre till fem år efter sjukdomsdebuten. Av okända anledningar så bibehålls ögonmusklernas funktion mycket bättre vid ALS i jämförelse med andra muskler och är hos merparten av patienter i stort sett opåverkade. Ögonmusklerna är mycket specialiserade muskler som skiljer sig från andra muskler i kroppen på flera sätt, bland annat genom deras unika nervförsörjning och genom de satellitceller – muskelspecifika stamceller, som finns i dem. En ökad förståelse för hur dessa faktorer inverkar på ögonmusklernas motståndskraft vid ALS skulle kunna ge värdefulla ledtrådar till hur man skulle kunna sakta ned sjukdomens fortskridande i andra muskler vid ALS. Ögonmuskler och extremitetsmuskler från avlidna ALS-patienter och åldersmatchade friska kontroller, tillsammans med transgena möss med den sjukdomsalstrande mutationen SOD1G93A, studerades genom immunfluorescens och efterföljande mikroskopering. Antikroppar mot molekylerna Pax7, NCAM, MyoD, myogenin, Ki-67, laminin och dystrofin användes för att identifiera satellitceller och deras dotterceller i ögonmuskler och extremitetsmuskler. Antikroppar mot neurofilament och synaptofysin användes för att identifiera nerver och neuromuskulära synapser hos transgena SOD1-möss. Antikroppar mot toniska (tonic) och ryckande (twitch) muskelmyosinkedjor användes för att bestämma proportionen av och storleken på dessa typer av muskelfibrer i ögonmuskler från avlidna ALS-patienter och friska kontroller. Mängden satellitceller varierade mellan de främre och de mer bakre delarna i friska, humana ögonmuskler och var dubbelt så många i den främre delen av muskeln jämfört med den mellersta och bakre delen av muskeln. Celler som uttryckte satellitcellsmarkören Pax7 hittades även i icke-traditionella satellitcellspositioner i ögonmusklerna. Mängden satellitceller i ögonmusklerna från ALS-patienter var samma som hos friska kontroller. I extremitetsmusklerna hos ALS-patienter varierade mängden satellitceller mellan låga nivåer (liknande de hos friska åldrade, inaktiva individer) till höga nivåer, särskilt i muskler där sjukdomen fortskridit under lång tid. Dessutom varierade mängden satellitceller mellan övre och nedre extremiteter. Hos symptomatiska SOD1G93A-möss hade ögonmusklerna en mycket välbevarad innervation jämfört med bakbensmusklerna, där många neuromuskulära synapser saknade kontakt mellan nerven och motorändplattan. Proportionen muskelfibrer med toniska muskelmyosinkedjor var lägre hos ALS-patienter jämfört med friska kontroller. Denna minskning var tydligare hos patienter där sjukdomssymtomen hade debuterat i tugg- och ansiktsmuskulaturen – så kallad bulbär ALS. Dessutom fanns det i den här gruppen, men ingen annan studerad grupp, en stark korrelation mellan nedgången i toniska fibrer och patientens ålder. Värt att notera är att minskningen av toniska muskelfibrer saknade korrelation med hur länge patienten hade varit sjuk i ALS. Den generellt välbevarade innervationen i ögonmusklerna hos SOD1G93A-möss kan spegla distinkta inneboende egenskaper hos ögonmusklerna som är av vikt för bevarandet av ögonrörligheten vid ALS. Gällande satellitceller så antyder våra data att satellitceller och deras regenerativa kapacitet spelar en försumbar roll vid ALS i allmänhet och vid ögonmusklernas bevarande i synnerhet. Slutligen, även om ögonmuskler generellt är välbevarade vid ALS så är toniska muskelfibrer märkbart påverkade och detta kan spegla skillnader mellan olika nervcellsgruppers känslighet vid ALS.