Bibliographies thématiques / Amyotrophic lateral sclerosis – patients

Littérature scientifique sur le sujet « Amyotrophic lateral sclerosis – patients »

Auteur : Grafiati

Publié le 25 juillet 2024

Mis à jour le 27 juillet 2024

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Articles de revues sur le sujet "Amyotrophic lateral sclerosis – patients"

Nakayama, Yui, Satoru Morimoto, Misao Yoneda, Shigeki Kuzuhara et Yasumasa Kokubo. « Cerebrospinal Fluid Biomarkers for Kii Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex ». Journal of Neurodegenerative Diseases 2013 (27 mars 2013) : 1–4. http://dx.doi.org/10.1155/2013/679089.

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Objective. Amyotrophic lateral sclerosis/parkinsonism-dementia complex is classified as one of the tauopathies. Methods. The total tau, phosphorylated tau, and amyloid β42 levels were assayed in cerebrospinal fluid from patients with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex (), Alzheimer’s disease (), Parkinson’s disease (), amyotrophic lateral sclerosis (), and controls () using specific enzyme-linked immunosorbent assay methods. Results. Total tau and phosphorylated tau did not increase and amyloid β42 was relatively reduced in Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex. Relatively reduced amyloid β42 might discriminate Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex from amyotrophic lateral sclerosis and Parkinson’s disease, and the ratios of phosphorylated-tau to amyloid β42 could discriminate Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex from Alzheimer’s disease. Conclusions. Cerebrospinal fluid analysis may be useful to differentiate amyotrophic lateral sclerosis/parkinsonism-dementia complex from Alzheimer’s disease, amyotrophic lateral sclerosis, and Parkinson’s disease.

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Freischmidt, Axel, Kathrin Müller, Lisa Zondler, Patrick Weydt, Alexander E. Volk, Anže Lošdorfer Božič, Michael Walter et al. « Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers ». Brain 137, n^o 11 (5 septembre 2014) : 2938–50. http://dx.doi.org/10.1093/brain/awu249.

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Abstract Knowledge about the nature of pathomolecular alterations preceding onset of symptoms in amyotrophic lateral sclerosis is largely lacking. It could not only pave the way for the discovery of valuable therapeutic targets but might also govern future concepts of pre-manifest disease modifying treatments. MicroRNAs are central regulators of transcriptome plasticity and participate in pathogenic cascades and/or mirror cellular adaptation to insults. We obtained comprehensive expression profiles of microRNAs in the serum of patients with familial amyotrophic lateral sclerosis, asymptomatic mutation carriers and healthy control subjects. We observed a strikingly homogenous microRNA profile in patients with familial amyotrophic lateral sclerosis that was largely independent from the underlying disease gene. Moreover, we identified 24 significantly downregulated microRNAs in pre-manifest amyotrophic lateral sclerosis mutation carriers up to two decades or more before the estimated time window of disease onset; 91.7% of the downregulated microRNAs in mutation carriers overlapped with the patients with familial amyotrophic lateral sclerosis. Bioinformatic analysis revealed a consensus sequence motif present in the vast majority of downregulated microRNAs identified in this study. Our data thus suggest specific common denominators regarding molecular pathogenesis of different amyotrophic lateral sclerosis genes. We describe the earliest pathomolecular alterations in amyotrophic lateral sclerosis mutation carriers known to date, which provide a basis for the discovery of novel therapeutic targets and strongly argue for studies evaluating presymptomatic disease-modifying treatment in amyotrophic lateral sclerosis.

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Voitenkov, Vladislav B., et E. V. Ekusheva. « Pain in amyotrophic lateral sclerosis ». Journal of Clinical Practice 10, n^o 2 (17 août 2019) : 66–73. http://dx.doi.org/10.17816/clinpract10266-73.

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In this review, we discuss different aspects of pain syndrome in patients with amyotrophic lateral sclerosis: etiology, incidence, pathophysiology and main clinical features. Also we review the modern approaches to the treatment of pain in amyotrophic lateral sclerosis. Pain is actually not rare in this condition: it appears in 80% of patients, affecting their quality of life and functional activity, leading to the development of depressive and anxiety disorders. Pain in amyotrophic lateral sclerosis is often overlooked by clinicians, since their attention may focus on the motor symptoms of the disease. Thus, a more careful approach is needed to diagnose and treat pain in amyotrophic lateral sclerosis.

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Li, Lian, Jie Liu et Hua She. « Targeting Macrophage for the Treatment of Amyotrophic Lateral Sclerosis ». CNS & ; Neurological Disorders - Drug Targets 18, n^o 5 (23 septembre 2019) : 366–71. http://dx.doi.org/10.2174/1871527318666190409103831.

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Background & Objective: Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that specifically affects motor neurons in the brain and in the spinal cord. Patients with amyotrophic lateral sclerosis usually die from respiratory failure within 3 to 5 years from when the symptoms first appear. Currently, there is no cure for amyotrophic lateral sclerosis. Accumulating evidence suggests that dismantling of neuromuscular junction is an early event in the pathogenesis of amyotrophic lateral sclerosis. Conclusion: It is starting to realized that macrophage malfunction contributes to the disruption of neuromuscular junction. Modulation of macrophage activation states may stabilize neuromuscular junction and provide protection against motor neuron degeneration in amyotrophic lateral sclerosis.

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Ingre, Caroline, Lin Chen, Yiqiang Zhan, Jet Termorshuizen, Li Yin et Fang Fang. « Lipids, apolipoproteins, and prognosis of amyotrophic lateral sclerosis ». Neurology 94, n^o 17 (27 mars 2020) : e1835-e1844. http://dx.doi.org/10.1212/wnl.0000000000009322.

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ObjectiveTo determine whether lipids and apolipoproteins predict prognosis of patients with amyotrophic lateral sclerosis in a cohort study of 99 patients with amyotrophic lateral sclerosis who were diagnosed during 2015 to 2018 and followed up until October 31, 2018, at the Neurology Clinic in Karolinska University Hospital in Stockholm, Sweden.MethodsTotal cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein AI, apolipoprotein B, and lipid ratios were measured at the time of amyotrophic lateral sclerosis diagnosis or shortly thereafter. Death after amyotrophic lateral sclerosis diagnosis was used as the main outcome. The Cox model was used to estimate hazard ratios with 95% confidence intervals of death after amyotrophic lateral sclerosis diagnosis, after controlling for sex, age at diagnosis, site of symptom onset, diagnostic delay, body mass index, Amyotrophic Lateral Sclerosis Functional Rating Scale–Revised score, and progression rate.ResultsA 1-SD increase of total cholesterol (hazard ratio 0.60, 95% confidence interval 0.41–0.89, p = 0.01), low-density lipoprotein cholesterol (hazard ratio 0.64, 95% confidence interval 0.44–0.92, p = 0.02), low-density lipoprotein cholesterol/high-density lipoprotein cholesterol ratio (hazard ratio 0.65, 95% confidence interval 0.46–0.92, p = 0.02), apolipoprotein B (hazard ratio 0.62, 95% confidence interval 0.44–0.88, p = 0.01), or apolipoprotein B/apolipoprotein AI ratio (hazard ratio 0.61, 95% confidence interval 0.43–0.86, p < 0.01) was associated with a lower risk of death after amyotrophic lateral sclerosis diagnosis. A dose-response relationship was also noted when these biomarkers were analyzed as categorical variables.ConclusionsLipids and apolipoproteins are important prognostic indicators for amyotrophic lateral sclerosis and should be monitored at the diagnosis of amyotrophic lateral sclerosis.

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Geevasinga, Nimeshan, James Howells, Parvathi Menon, Mehdi van den Bos, Kazumoto Shibuya, José Manuel Matamala, Susanna B. Park, Karen Byth, Matthew C. Kiernan et Steve Vucic. « Amyotrophic lateral sclerosis diagnostic index ». Neurology 92, n^o 6 (11 janvier 2019) : e536-e547. http://dx.doi.org/10.1212/wnl.0000000000006876.

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ObjectiveThe aim of the study was to assess the utility of a novel amyotrophic lateral sclerosis (ALS) diagnostic index (ALSDI).MethodsA prospective multicenter study was undertaken on patients presenting with suspected ALS. The reference standard (Awaji criteria) was applied to all patients at recruitment. Patients were randomly assigned to a training (75%) and a test (25%) cohort. The ALSDI was developed in the training cohort and its diagnostic utility was subsequently assessed in the test cohort.ResultsA total of 407 patients were recruited, with 305 patients subsequently diagnosed with ALS and 102 with a non-ALS mimicking disorder. The ALSDI reliably differentiated ALS from neuromuscular disorders in the training cohort (area under the curve 0.92, 95% confidence interval 0.89–0.95), with ALSDI ≥4 exhibiting 81.6% sensitivity, 89.6% specificity, and 83.5% diagnostic accuracy. The ALSDI diagnostic utility was confirmed in the test cohort (area under the curve 0.90, 95% confidence interval 0.84–0.97), with ALSDI ≥4 exhibiting 83.3% sensitivity, 84% specificity, and 83.5% diagnostic accuracy. In addition, the diagnostic utility of the ALSDI was confirmed in patients who were Awaji negative at recruitment and in those exhibiting a predominantly lower motor neuron phenotype.ConclusionThe ALSDI reliably differentiates ALS from mimicking disorders at an early stage in the disease process.Classification of evidenceThis study provides Class I evidence that for patients with suspected ALS, the ALSDI distinguished ALS from neuromuscular mimicking disorders.

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Sathasivam, Sivakumar. « Managing patients with amyotrophic lateral sclerosis ». European Journal of Internal Medicine 20, n^o 4 (juillet 2009) : 355–58. http://dx.doi.org/10.1016/j.ejim.2008.09.002.

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Verhey, F. R. J., F. W. Vreeling et J. Jolles. « Dementia and Amyotrophic Lateral Sclerosis ». Acta Neuropsychiatrica 4, n^o 1 (mars 1992) : 17–20. http://dx.doi.org/10.1017/s0924270800034967.

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SummaryDementia and Amyotrophic Lateral SclerosisThe case-histories of two patients are presented with Amyo-trofic Lateral Sclerosis and dementia (ALS-D), followed by a discussion of recent literature on this topic. This condition can be considered as the interface between non-Alzheimer frontal lobe dementia and amyotrophic lateral sclerosis. The nosological classification of the ALS-D complex has not been established yet.

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Cividini, Camilla, Silvia Basaia, Edoardo G. Spinelli, Elisa Canu, Veronica Castelnovo, Nilo Riva, Giordano Cecchetti et al. « Amyotrophic Lateral Sclerosis–Frontotemporal Dementia ». Neurology 98, n^o 4 (1 décembre 2021) : e402-e415. http://dx.doi.org/10.1212/wnl.0000000000013123.

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Background and ObjectivesA significant overlap between amyotrophic lateral sclerosis (ALS) and behavioral variant of frontotemporal dementia (bvFTD) has been observed at clinical, genetic, and pathologic levels. Within this continuum of presentations, the presence of mild cognitive or behavioral symptoms in patients with ALS has been consistently reported, although it is unclear whether this is to be considered a distinct phenotype or rather a natural evolution of ALS. Here, we used mathematical modeling of MRI connectomic data to decipher common and divergent neural correlates across the ALS–frontotemporal dementia (FTD) spectrum.MethodsWe included 83 patients with ALS, 35 patients with bvFTD, and 61 healthy controls, who underwent clinical, cognitive, and MRI assessments. Patients with ALS were classified according to the revised Strong criteria into 54 ALS with only motor deficits (ALS-cn), 21 ALS with cognitive or behavioral involvement (ALS-ci/bi), and 8 ALS with bvFTD (ALS-FTD). First, we assessed the functional and structural connectivity patterns across the ALS-FTD spectrum. Second, we investigated whether and where MRI connectivity alterations of patients with ALS with any degree of cognitive impairment (i.e., ALS-ci/bi and ALS-FTD) resembled more the pattern of damage of one (ALS-cn) or the other end (bvFTD) of the spectrum, moving from group-level to single-subject analysis.ResultsAs compared with controls, extensive structural and functional disruption of the frontotemporal and parietal networks characterized bvFTD (bvFTD-like pattern), while a more focal structural damage within the sensorimotor-basal ganglia areas characterized ALS-cn (ALS-cn-like pattern). ALS-ci/bi patients demonstrated an ALS-cn-like pattern of structural damage, diverging from ALS-cn with similar motor impairment for the presence of enhanced functional connectivity within sensorimotor areas and decreased functional connectivity within the bvFTD-like pattern. On the other hand, patients with ALS-FTD resembled both structurally and functionally the bvFTD-like pattern of damage with, in addition, the structural ALS-cn-like damage in the motor areas.DiscussionOur findings suggest a maladaptive role of functional rearrangements in ALS-ci/bi concomitantly with similar structural alterations compared to ALS-cn, supporting the hypothesis that ALS-ci/bi might be considered as a phenotypic variant of ALS, rather than a consequence of disease worsening.

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Oliveira Filho, Ademar Francisco de, Gêssyca Adryene de Menezes Silva et Débora Milenna Xavier Almeida. « Application of botulinum toxin to treat sialorrhea in amyotrophic lateral sclerosis patients : a literature review ». Einstein (São Paulo) 14, n^o 3 (septembre 2016) : 431–34. http://dx.doi.org/10.1590/s1679-45082016rb3594.

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ABSTRACT Amyotrophic lateral sclerosis is a progressive and fatal neurodegenerative disease characterized by the degeneration of motor neurons, which are the central nervous system cells that control voluntary muscle movements. The excessive salivation (sialorrhea) is present in approximately 50% of amyotrophic lateral sclerosis cases. Thus, some alternative therapeutic methods are sought, such as anticholinergic drugs and surgery. Recently the use of botulinum toxin applied at a midpoint of the salivary glands, often guided by ultrasound, have demonstrated positive results. The objective was to review the literature to demonstrate an alternative method to treatments of sialorrhea in patients with amyotrophic lateral sclerosis. In recent studies, the efficacy of botulinum toxin is confirmed, although new applications are required. Since the side effects are negligible, this is an alternative to treat amyotrophic lateral sclerosis, and other patients with diseases that present sialorrhea.

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Thèses sur le sujet "Amyotrophic lateral sclerosis – patients"

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/.

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Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative condition which is almost universally fatal. Some sufferers have an identifiable genetic mutation (<2%), but the majority of cases are sporadic (SALS). There is a body of evidence suggesting involvement of oxidative stress and mitochondrial abnormalities in the pathogenesis of ALS. Mitochondrial function was assessed in remote tissues (muscle, cultured myoblasts, cultured fibroblasts) from patients with ALS and controls. Muscle tissue was examined for histological features consistent with a mitochondrial disorder. Mitochondrial respiratory chain function was measured in mitochondrial homogenates. Mitochondrial protein expression was determined using immunofluorescent antibodies to a mitochondrial DNA (mtDNA)-encoded respiratory chain enzyme subunit with image analysis. MtDNA quantity and quality was assessed using Southern blot and long-range PCR. Analysis of inheritance patterns was performed using a database of familial ALS cases. No mitochondrial abnormalities were identified using these techniques. There was no evidence of anticipation or a sex effect on inheritance. In order to look for a difference in susceptibility to oxidative stress, cell cultures were examined for markers of oxidative damage and apoptosis, following growth with a free radical generating agent (paraquat). These studies demonstrated an increased susceptibility to oxidative damage in patient myoblasts and fibroblasts. This effect was not seen in cybrid studies combining mtDNA from patient platelets with experimental cells devoid of mtDNA (p cells), where no difference in oxidative damage was seen, confirming the absence of a systemic mtDNA abnormality. These results suggest that patients with SALS have an increased systemic sensitivity to oxidative stress which becomes pathological in tissues, such as motor neurons, which are considered to be vulnerable to such stress due to their metabolic activity and structure. This altered sensitivity is due to a factor other than a mitochondrial DNA abnormality, such as a nuclear DNA mutation or an unidentified environmental factor.

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Kasi, 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/.

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Lee, 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.

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Oudenot, 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.

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Teyssou, 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.

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La Sclérose Latérale Amyotrophique (SLA) est une maladie neurodégénérative fatale caractérisée par la dégénérescence des motoneurones centraux et périphériques. Elle est le plus souvent sporadique (SALS, 90% des cas), tandis que les formes familiales (FALS) représentent 10% des patients. Une vingtaine de gènes liés à la SLA ont été identifiés et sont responsables de 70% des FALS et 10% des SALS. Le but de ce projet était d’étudier la contribution de 6 gènes rares dans une large cohorte de patients français atteints de SLA et d’étudier les conséquences fonctionnelles de certains variants identifiés. La première partie de ce projet a consisté à réaliser l’analyse génétique des gènes MATR3, CHCHD10, SS18L1, SQSTM1, UBQLN2 et PFN1. Aucun variant causal ne fut identifié pour les 2 premiers gènes alors que 2 nouveaux variants possiblement pathogènes ont été identifiés dans le gène SS18L1, 4 mutations pour SQSTM1, 5 dans UBQLN2 et 2 mutations déjà répertoriées dans le gène PFN1. Cette analyse génétique a permis de souligner un chevauchement génétique entre SLA et maladie de Paget pour SQSTM1 et entre SLA et Paraplégie Spastique pour UBQLN2. La deuxième partie de ce projet a consisté en l’étude de la pathogénicité de certains variants que nous avons identifiés dans les gènes SQSTM1, UBQLN2 et PFN1, par l’analyse (i) des inclusions dans les tissus post mortem de patients, (ii) de l’expression et de la dégradation protéique dans des lymphoblastes issus de patients SLA et/ou (iii) des conséquences cellulaires après surexpression in vitro et in vivo. Ces analyses ont montré, concernant SQSTM1, qui est impliquée dans la formation des autophagosomes, que les mutations perturbaient l’agrégation protéique, que les mutations dans le gène UBQLN2 altéraient la dégradation lysosomale et la liaison de la protéine avec HSP70 et que celles dans PFN1 dérégulaient la voie de l’autophagie alternative et la mitophagie. Notre travail a permis (i) d’évaluer la contribution chez les patients français atteints de SLA de plusieurs gènes incriminés dans la SLA, (i) d’élargir le spectre génétique commun à la SLA et à d’autres pathologies et (iii) de mettre en avant la pertinence de l’implication des voies de dégradation protéique, notamment l’autophagie, dans la pathogénèse de la maladie
The 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

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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.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease that leads to respiratory compromise and eventually death within two to five years. Even though people with ALS must make many treatment decisions, none has such a significant impact on quality of life and survival as the one pertaining to assisted ventilation. A qualitative research study was undertaken to elicit factors that are pertinent to this decision-making process. Ten individual, semi-structured interviews were conducted with individuals with ALS. Six main themes emerged from the interviews. These are: meaning of the intervention, the importance of context, values, and fears in decision-making, the need for information, and adaptation/acceptance of the intervention. Based on these findings, it is argued that a pluralistic conception of autonomy as well as a shared decision-making model is better suited to give high priority to patient autonomy in this context. Some recommendations to improve clinical practice are proposed.

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Achille, 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.

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Camara, 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.

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Dissertação para obtenção do Grau de Mestre em Engenharia Biomédica
In 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.

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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.

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Amyotrophic Lateral Sclerosis (ALS) is a late onset, fatal, neurodegenerative disorder that selectively affects motor neurons. It leads to the degeneration of both upper and lower motor neurons, respectively in the motor cortex and in the brainstem and spinal cord. Different mechanisms have been proposed to explain the pathogenesis of the disease: protein aggregation, oxidative stress, impairment of mitochondrial function, transcription dysfunctions, alterations in the proteasome pathway, inflammation and excitotoxicity. A wide phenotypical variability is described, likely attributable to a combination of genetic and environmental factors, able to modify the clinical expression of the disease. However, the difficulty to focus on one specific environmental factor, the variability of such exposure in space and time and the interaction between environment and genetic background, hampered the evaluation of their possible role in ALS etiology. The study of geographical clusters of ALS patients has been helpful - in the past years - to get more insights into the pathology. Studying individuals exposed to the same environment, thus ideally subjected to the same exogenous stressors, could be very valuable by limiting one of the most confounding variables in ALS studies. Indeed, a diverse environmental exposure is almost always necessarily present when analyzing the large cohorts of patients that are usually required to reach statistically significant numbers of cases in epidemiological-type studies. This PhD thesis presents a multidisciplinary study performed on a small cohort of sporadic ALS patients, all originating from a restricted and defined geographical area. Focusing on a very limited geographical area, gave the chance to consider the characteristics of the surrounding environment and allowed to raise hypotheses on the possibly involved stressors acting on the local population, being those environmental or dietary contributions. In detail the experiments performed can be divided into five main themes: • To assess possible differences in the diet of ALS subjects and healthy controls and to provide information as for whether the consumption of one or more foods were associated to the disease status by an exploratory questionnaire submitted to the subjects involved in the study. There were no evident differences in the nutrition habits of ALS subjects with respect to healthy controls. • To determine concentrations of a selected panel of metals in serum and whole blood with ICP-MS. Metals analyzed have been chosen based on their biological relevance and previous works. Concentrations of As, Al, Mn, Se, Ni, Pb, Hg, Cu, Fe, Zn, Co, Cr, Ba, Sn, U, V, Sr have been evaluated in serum, while an additional analysis of Cr, Mn, Co, Cu, Zn, As, Se, Pb and Hg has been performed on whole blood. The most striking result comes from the association of lower levels of serum As with the disease status, an occurrence reported for the first time. • To analyze the serum proteome for the first time in ALS studies, through two-dimensional electrophoresis, to dissect the possible links between circulating proteins and circulating metals and to exploit this technique to look for a possible panel of easily accessible disease biomarkers. Proteins in which was registered an alteration are involved in the Acute Phase Response. Indeed, the different expression with respect to controls could be related to the disease status of the subjects. Alterations in some proteins related to lipid homeostasis have been detected, that is consistent with a proposed metabolic shift towards an increased peripheral use of lipids in ALS. Deregulation of lipid homeostasis proteins seems to be more directly linked in modulating the disease progression, as supported from literature data. • To evaluate the genetic background of patients by analyzing the most frequently mutated genes (SOD1, FUS, TDP43 and C9orf72) to exclude a genetic cause of the disease, giving more relevance to the environmental exposure as a risk factor. APOE4 and PON genotypes have been evaluated in the light of the results obtained from the proteomic studies. The allelic frequency for the APOE*4 allele, associated to neurodegeneration, is 3-fold higher as well as APOE*3/APOE*4 genotype in the patients’ group than in control’s. • To evaluate the DNA oxidative stress by Comet Assay, since it is well known that cellular oxidative stress is involved in the disease. Furthermore, metals impaired homeostasis may exacerbate oxidative stress via Fenton reactions. In literature at present there are few works evaluating this aspect with this approach. The levels of endogenous DNA damage did not differ between ALS and control group. To overcome the obvious limits related to the small number of subjects necessarily involved in this study, advantage was taken from the application of a multifactorial statistical evaluation, based on a machine learning software. This software, belonging to the artificial neural networks architecture, was specifically designed to analyze complex problems, where the number of variables significantly exceeds the amount of subjects involved in the study, as usually is in the case of rare diseases. Great amount of data is, nowadays, a limit in understanding results of experiments performed with more and more sophisticated technologies, especially in complex diseases such as ALS. The application of new statistical analyses, based on machine learning, where data are the basis of the creation of models to interpret interactions among variables, would be the key to translate raw data into understandable models. The lack of an effective pharmacological treatment in ALS leads to rapidly looking for alternative approaches to modulate this devastating disease. To this purpose, a nutritional intervention, with the development of specific nutritional formulas, would be an effective tool to intervene on the patients’ lipid profile and to contrast potential metal’s homeostasis impairment. Thus, development of such formulations is strongly supported from the evidences raised from this study, together with its application in clinical trials.

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Osei-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.

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Livres sur le sujet "Amyotrophic lateral sclerosis – patients"

Hiroshi, Mitsumoto, dir. Amyotrophic lateral sclerosis : A guide for patients and families. 3^e éd. New York, NY : Demos Health, 2009.

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Hiroshi, Mitsumoto, et Munsat Theodore L. 1930-, dir. Amyotrophic lateral sclerosis : A guide for patients and families. 2^e éd. New York : Demos, 2001.

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Parker, James N., et Philip M. Parker. The official patient's sourcebook on amyotrophic lateral sclerosis. Sous la direction de Icon Group International Inc. San Diego, Calif : Icon Health Publications, 2003.

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T, Caroscio James, dir. Amyotrophic lateral sclerosis : A guide to patient care. New York : Thieme, 1986.

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David, Oliver. Motor neurone disease. 2^e éd. London : Royal College of General Practitioners, 1994.

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Yi, Kyu-yŏn. Nun ŭro hŭimang ŭl ssŭda : Lugerik kwa matsŏ ssaun kijŏk ŭi kŏin Pak Sŭng-il ŭi hŭimang ilgi. 8^e éd. Sŏul-si : Ungjin Chisik Hausŭ, 2009.

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Koka, Halil. Bana ALS teşhisi koydular : Bir ALS hastasının umut dolu savaşı. İstanbul : Cinius, 2010.

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Balmer, Sonja. Atemlos : Aufzeichnungen zwischen Beatmungsmaschine, Schläuchen und Computer. 2^e éd. Zürich : Limmat Verlag, 2006.

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Massachusetts. Bureau of Environmental Health. Environmental Epidemiology Program. The Amyotrophic Lateral Sclerosis (ALS) Disease Registry : Frequently asked questions for patients and families. Boston, Mass.] : Massachusetts Department of Public Health, Bureau of Environmental Health, Environmental Epidemiology Program, 2009.

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Stinton, William M. I choose to live : A journey through life with ALS. Gurnee, IL : Banbury Pub., 2003.

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Plus de sources

Chapitres de livres sur le sujet "Amyotrophic lateral sclerosis – patients"

Cesa-Bianchi, M., et F. Ravaccia. « Psychological Preparation of the Physician for ALS Patients ». Dans Amyotrophic Lateral Sclerosis, 311–12. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_45.

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Ferro, F. M., G. Riefolo, D. A. Nesci et S. Mazza. « Psychodynamic Aspects in Patients with Amyotrophic Lateral Sclerosis (ALS) ». Dans Amyotrophic Lateral Sclerosis, 313–16. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_46.

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Norris, F. H., D. Holden, K. Kandal et E. Stanley. « Home Nursing Care by Families for Severely Paralyzed ALS Patients ». Dans Amyotrophic Lateral Sclerosis, 231–38. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_35.

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Sinaki, M. « Physical Therapy and Rehabilitation Techniques for Patients with Amyotrophic Lateral Sclerosis ». Dans Amyotrophic Lateral Sclerosis, 239–52. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_36.

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Delodovici, M. L., E. Terazzi, C. Pasetti et P. Pinelli. « Analysis of Extrinsic Factors Affecting Pallestesic Threshold (VT) Of Amyotrophic Lateral Sclerosis Patients ». Dans Amyotrophic Lateral Sclerosis, 125–28. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_20.

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Pinelli, P., L. Mazzini, G. Mora, F. Pisano et A. Villani. « A Follow-Up Electromyographic Investigation of ALS Patients Treated with High Dosage Gangliosides ». Dans Amyotrophic Lateral Sclerosis, 285–90. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_41.

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Maher, I., A. Pouplard-Barthelaix et J. Emile. « Cytotoxicity of Serum from Amyotrophic Lateral Sclerosis Patients on Spinal Cord Cells in Culture ». Dans Amyotrophic Lateral Sclerosis, 75–77. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_12.

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Delwaide, P. J., et J. Schoenen. « Spinal Cord Electrophysiological Activities After Small Doses of TRH in Control Subjects and ALS Patients ». Dans Amyotrophic Lateral Sclerosis, 129–33. Boston, MA : Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_21.

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Lane, Giulia, et Paholo Barboglio Romo. « Amyotrophic Lateral Sclerosis and Motor Neuron Disorders ». Dans Urological Care for Patients with Progressive Neurological Conditions, 127–34. Cham : Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-23277-1_14.

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Shravani, T., Ramya Sai, M. Vani Shree, J. Amudha et C. Jyotsna. « Assistive Communication Application for Amyotrophic Lateral Sclerosis Patients ». Dans Computational Vision and Bio-Inspired Computing, 1397–408. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-37218-7_147.

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Actes de conférences sur le sujet "Amyotrophic lateral sclerosis – patients"

Aquino, Letícia, Juliana Victor dos Santos, Jaqueline Donola Scandoleira, Jéssica Elen Gonçalves Nascimento et Letícia Moraes de Aquino. « Telerehabilitation in Amyotrophic Lateral Sclerosis ». Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.528.

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Introduction: Amyotrophic Lateral Sclerosis (ALS) is a progressive and degenerative motor disease of the nervous system. Symptoms are variable, the main one being muscle weakness. Treatment is based on medication and monitoring by a multidisciplinary team to maintain quality of life (QoL) and autonomy. There are barriers, like mobility, and telehealth (TH) can be a possibility of care. Objectives: To identify evidence of the use of TH in patients with ALS to improve symptoms and QoL. Design and settings: Study carried out at Centro Universitario São Camilo. Methodology: Literature review in the PubMed, Lilacs and PEDro, between 2011 and 2021, in Portuguese, English or Spanish, with “ALS”, “telemedicine”, “TH”. Results: Of the 14 studies found, 13 were selected after review. The majority (93%) made use of video and telephone calls for monitoring and new orientations, after face-to-face evaluation; but all showed the possibility of remote assessment, associated or no with technological resources (such apps, accelerometers, smartwatches). 31% of the studies reported indication of TH for respiratory care in critically ill patients. In general, 93% of the papers demonstrated that TH brought benefits in maintaining QoL and improving respiratory parameters. Conclusion: Use of TH in patients with ALS seems to be to viable, safe and beneficial for assessment and monitoring, especially in advanced stages and for respiratory symptoms.

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Pascual Martinez, Natalia, María Melgar Herrero, Cristina Gómez Rebollo et Elisa Martínez Repiso. « How Our Amyotrophic Lateral Sclerosis Patients Die ». Dans ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.3419.

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Vieira, Marina Duarte Gama, Anna Letícia Siqueira de Medeiros, Narayna Suellen Santos da Silva et Edlene Lima Ribeiro. « Dysphagia in patients with amyotrophic lateral sclerosis ». Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.398.

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Background: Amyotrophic lateral sclerosis is a rare neurodegenerative disease that acts on the upper and lower motor neurons, causing muscle weakness.¹²³Dysphagia occurs due to malfunction of the swallowing mechanisms and generates functional problems.⁴⁵⁶ Objectives: Describe the pathophysiology of dysphagia and discuss strategies for symptom relief. Design and setting: Systematic review, Faculdade Integrada Tiradentes, Jaboatão dos Guararapes - PE. Methods: Systematic review of 10 articles from the last years. Results: Dysarthria and dysphagia are common signs of upper motor neuron involvement and 80% of ALS cases exhibit asymmetric limb weakness.⁶ Conclusions: To improve the nutrition of patients with dysphagia, is suggested the use of supplements, changes in diet and food consistency, along with education on safe swallowing modes. Also percutaneous endoscopic gastrostomy can be used as an alternative. ⁷⁸⁹¹⁰

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Pyarali, F., R. Lewis, F. Diaz et A. Elsayegh. « Differentiating Spirometric Features Between Patients with Amyotrophic Lateral Sclerosis and Primary Lateral Sclerosis ». Dans American Thoracic Society 2022 International Conference, May 13-18, 2022 - San Francisco, CA. American Thoracic Society, 2022. http://dx.doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a2207.

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Tsai, Jang-Zern, et Tsai-Shih Chen. « Eye-writing communication for patients with amyotrophic lateral sclerosis ». Dans Proceeding of the eleventh international ACM SIGACCESS conference. New York, New York, USA : ACM Press, 2009. http://dx.doi.org/10.1145/1639642.1639694.

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Espiritu, Noelle Marie D., Senrong Ainsley C. Chen, Tiffany Ann C. Blasa, Francisco Emmanuel T. Munsayac, Rebecca P. Arenos, Renann G. Baldovino, Nilo T. Bugtai et Homer S. Co. « BCI-controlled Smart Wheelchair for Amyotrophic Lateral Sclerosis Patients ». Dans 2019 7th International Conference on Robot Intelligence Technology and Applications (RiTA). IEEE, 2019. http://dx.doi.org/10.1109/ritapp.2019.8932748.

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Kurmi, Om Prakash, Manasi Gyanchandani, Nilay Khare et Arvind Pillania. « Classification of Amyotrophic Lateral Sclerosis Patients using speech signals ». Dans 2023 Third International Conference on Secure Cyber Computing and Communication (ICSCCC). IEEE, 2023. http://dx.doi.org/10.1109/icsccc58608.2023.10176797.

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Huang, Yixiao, Xiaoli Wu et Rosa H. M. Chan. « Stratification and Survival Prediction for Amyotrophic Lateral Sclerosis Patients ». Dans 2022 IEEE-EMBS International Conference on Biomedical and Health Informatics (BHI). IEEE, 2022. http://dx.doi.org/10.1109/bhi56158.2022.9926946.

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Kasi, Patrick K., Lisa S. Krivickas, Melvin Meister, Effie Chew, Maurizio Schmid, Gary Kamen, Edward A. Clancy et Paolo Bonato. « Motor unit firing characteristics in patients with amyotrophic lateral sclerosis ». Dans 2009 IEEE 35th Annual Northeast Bioengineering Conference. IEEE, 2009. http://dx.doi.org/10.1109/nebc.2009.4967680.

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Dalla Vecchia, Laura, Anna Lucini, Domenico Volza, Riccardo Sideri, Kalliopi Marinou et Gabriele Mora. « Cardiac neural regulation involvement in patients with amyotrophic lateral sclerosis ». Dans 2014 8th Conference of the European Study Group on Cardiovascular Oscillations (ESGCO). IEEE, 2014. http://dx.doi.org/10.1109/esgco.2014.6847539.

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Rapports d'organisations sur le sujet "Amyotrophic lateral sclerosis – patients"

Santos, Ana Lúcia Yaeko da Silva, Deyse Mayara Rodrigues Caron, Livia Shirahige et Abrahão Fontes Baptista. Alterations in Corticomotor Excitability in Amyotrophic Lateral Sclerosis : A Systematic Review and Meta-Analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, mai 2023. http://dx.doi.org/10.37766/inplasy2023.5.0078.

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Review question / Objective: To systematically evaluate the utility of TMS to follow up on ALS patients using neurophysiological metrics and to quantify corticomotor excitability compared to sham controls or other neuromuscular diseases. Condition being studied: Amyotrophic Lateral Sclerosis (ALS) is the third most common neurodegenerative disease (BRUNET et al., 2020). The condition is characterized by progressive muscle atrophy due to upper and lower motor neuron death (GOETZ, 2000).

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Anklesaria, Pervin. Preclinical Development of Therapeutics for Amyotrophic Lateral Sclerosis. Fort Belvoir, VA : Defense Technical Information Center, octobre 2009. http://dx.doi.org/10.21236/ada541412.

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Connor, James R. Apo-Ferritin as a Therapeutic Treatment for Amyotrophic Lateral Sclerosis. Fort Belvoir, VA : Defense Technical Information Center, septembre 2012. http://dx.doi.org/10.21236/ada567828.

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Przedborski, Serge. Neuroprotective Small Molecules for the Treatment of Amyotrophic Lateral Sclerosis. Fort Belvoir, VA : Defense Technical Information Center, septembre 2012. http://dx.doi.org/10.21236/ada567841.

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Connor, James R. Apo-Ferritin as a Therapeutic Treatment for Amyotrophic Lateral Sclerosis. Fort Belvoir, VA : Defense Technical Information Center, décembre 2013. http://dx.doi.org/10.21236/ada598852.

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Grill, Raymond J. Targeted Riluzole Delivery by Antioxidant Nanovectors for Treating Amyotrophic Lateral Sclerosis. Fort Belvoir, VA : Defense Technical Information Center, octobre 2014. http://dx.doi.org/10.21236/ada613439.

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LoGrasso, Philip, et Serge Przedborski. c-jun-N-Terminal Kinase (JNK) for the Treatment of Amyotrophic Lateral Sclerosis. Fort Belvoir, VA : Defense Technical Information Center, octobre 2013. http://dx.doi.org/10.21236/ada596507.

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Wackerman, Brooke L., B. L. Cox, K. L. Grayson, Shari L. Shanklin et Wilson W. McGriff. Case Series Investigation of Amyotrophic Lateral Sclerosis (ALS) Among Former Kelly Air Force Base Workers. Fort Belvoir, VA : Defense Technical Information Center, avril 2005. http://dx.doi.org/10.21236/ada437518.

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Zhu, Qiaochu, Jin Zhou, Hai Huang, Jie Han, Biwei Cao, Dandan Xu, Yan Zhao et Gang Chen. Risk factors associated with amyotrophic lateral sclerosis : a protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, septembre 2022. http://dx.doi.org/10.37766/inplasy2022.9.0118.

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Review question / Objective: To identify and list the risk factors associated with the onset and progression of ALS. Condition being studied: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting the upper and lower motor neurons in the spinal bulb, cerebral cortex, and spinal cord. The clinical processing symptoms accompany muscle atrophy, fasciculation, and fatigue of limbs, which can lead to general paralysis and death from respiratory failure within 3-5 years after the onset of this disease. Though the pathogenesis of ALS is still unclear, exploring the associations between risk factors and ALS can provide reliable evidence to find the pathogenesis in the future. This meta-analysis aims to synthesize all related risk factors on ALS, comprehensively understand this disease, and provide clues to mechanism research and clinicians.

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