“Who Will I Be?”: Relational Identity, Living with Amyotrophic Lateral Sclerosis, and Future-Oriented Decisionmaking

2020 ◽  
Vol 29 (4) ◽  
pp. 617-629
Author(s):  
ERIKA VERSALOVIC ◽  
ERAN KLEIN
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Family Involvement ◽  
Therapeutic Option ◽  
The Other ◽  
Relational Identity ◽  
Relational Approach ◽  
Caregiver Relationship ◽  
Shed Light ◽  
Lateral Sclerosis ◽  
Critical Aspects

AbstractPatients with amyotrophic lateral sclerosis (ALS) face many difficult, timing-sensitive decisions over the course of their illness, weighing present versus future harms and benefits. Supplemented by interviews with people with ALS, we argue for a relational approach to understanding these decisions and their effects on identity. We highlight two critical aspects of the patient–caregiver relationship: (1) the extent to which each may rely on the other leaves their wellbeing intimately intertwined and (2) patients often require others to help with the imaginative task of considering possible futures for each therapeutic option. We show why family involvement in decisionmaking practices can be so critical, and shed light on the ways intimate others help preserve and protect people’s identities amidst the destabilizing uncertainty illness and treatment can bring.

scholarly journals Amyotrophic Lateral Sclerosis Knowledge among University Students

2020 ◽  
pp. 26-33
Author(s):  
Muhammad Shahid Iqbal ◽  
Salah-Ud-Din Khan ◽  
Eldowaik Mohamed Salah Saad ◽  
Muhammad Zahid Iqbal
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Medical Students ◽  
Observational Study ◽  
Social Science ◽  
University Students ◽  
Healthcare Provider ◽  
The Other ◽  
Cross Sectional ◽  
Adequate Knowledge ◽  
Lateral Sclerosis

Objective: The objective of the study was to evaluate the knowledge of ALS among students in a university in Malaysia. Methods: A cross-sectional and observational study was performed among the students of three different healthcare provider faculties (Medical, Pharmacy and Dental) in a university with the help of pre-validated research questionnaire. The Statistical Package for Social Science (SPSS) Version 24.0 was used to analyze and present the data. Results: A total of 268 university students from three faculties participated in the current study. The medical faculty students and final year students had more appropriate knowledge towards the ALS. Conclusion: Overall appropriate knowledge was observed among the studied faculty students. The present study concluded that medical students had adequate knowledge of ALS than the other two faculty students.

scholarly journals Edaravone, a new therapeutic option in amyotrophic lateral sclerosis: Evaluation of challenges in the drug accessibility

2020 ◽  
Author(s):  
Łukasz Puchała ◽  
Stanisław Maksymowicz ◽  
Tomasz Siwek ◽  
Marcin P. Mycko
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Therapeutic Option ◽  
The European Union ◽  
Ministry Of Health ◽  
Demand And Supply ◽  
The Public ◽  
Slowing Down ◽  
On Line ◽  
Als Patients ◽  
Lateral Sclerosis

Introduction: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, with about 3–4 years median survival from the onset of symptoms. Only two therapies for ALS have been proven effective in slowing down this condition, riluzole and edaravone. Recently approved edaravone, either original or generic, is not registered in Poland. It can only be used after special approval of Polish Ministry of Health. The costs of payment have to be covered by patient in full. Aim: In this article we will describe the public demand of edaravone in Poland for ALS treatment and problems related to prescribing the drug, like procedures and prices. Material and methods: This article is based on the available literature and on data obtained from Polish Ministry of Health. Results and discussion: The high cost of therapy affects the relatively widespread use of generic medicines not registered in Europe. We identify mechanisms of the demand and supply for various formulations of edaravone in Poland. These information should be of relevance to many other countries, especially within the European Union. Conclusions: Medicines available from licensed manufacturer are more expensive than offers available on-line. Although original chain of distribution presents with unrivaled warranty to avoid purchasing of adulterated drug we report the challenges of the edaravone treatment initiation in ALS patients in Poland.

scholarly journals Calcium Dyshomeostasis and Lysosomal Ca2+ Dysfunction in Amyotrophic Lateral Sclerosis

Cells ◽  
2019 ◽  
Vol 8 (10) ◽  
pp. 1216 ◽  
Author(s):  
Tedeschi ◽  
Petrozziello ◽  
Secondo
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Mitochondrial Dynamics ◽  
Neuronal Loss ◽  
Ionic Channels ◽  
Neurodegenerative Process ◽  
Ionic Mechanisms ◽  
Shed Light ◽  
Ca2 Channels ◽  
Lateral Sclerosis

Recent findings in the understanding of amyotrophic lateral sclerosis (ALS) revealed that alteration in calcium (Ca2+) homeostasis may largely contribute to motor neuron demise. A large part of these alterations is due to dysfunctional Ca2+-storing organelles, including the endoplasmic reticulum (ER) and mitochondria. Very recently, lysosomal Ca2+ dysfunction has emerged as an important pathological change leading to neuronal loss in ALS. Remarkably, the Ca2+-storing organelles are interacting with each other at specialized domains controlling mitochondrial dynamics, ER/lysosomal function, and autophagy. This occurs as a result of interaction between specific ionic channels and Ca2+-dependent proteins located in each structure. Therefore, the dysregulation of these ionic mechanisms could be considered as a key element in the neurodegenerative process. This review will focus on the possible role of lysosomal Ca2+ dysfunction in the pathogenesis of several neurodegenerative diseases, including ALS and shed light on the possibility that specific lysosomal Ca2+ channels might represent new promising targets for preventing or at least delaying neurodegeneration in ALS.

scholarly journals Impaired Verbal Communication: diagnosis review in patients with Amyotrophic Lateral Sclerosis

2018 ◽  
Vol 71 (6) ◽  
pp. 3063-3073 ◽  
Author(s):  
Amanda Holanda Severo ◽  
Zuila Maria de Figueiredo Carvalho ◽  
Marcos Venícios de Oliveira Lopes ◽  
Renata Sá Ferreira Brasileiro ◽  
Deyse Cardoso de Oliveira Braga
Keyword(s):  
Risk Factors ◽  
Amyotrophic Lateral Sclerosis ◽  
Risk Factor ◽  
Review Process ◽  
Verbal Communication ◽  
The Other ◽  
Nursing Diagnosis ◽  
Definition Of ◽  
Content Review ◽  
Lateral Sclerosis

ABSTRACT Objective: To review the contents of the nursing diagnosis of Impaired Verbal Communication in patients with Amyotrophic Lateral Sclerosis. Method: For the review of this diagnosis we used the integrative review. The 21 selected articles were submitted to a careful concept analysis for the definition of the diagnostic concept and review of its elements. Results: It is recommended, in addition to a new definition for the diagnosis of Impaired Verbal Communication, the incorporation of twelve Risk Factors, the maintenance of three others and the relocation of a Defining Characteristic for Risk Factor. It is also recommended the incorporation of nine Defining Characteristics and the modification of the nomenclature of the other three that already make up the NANDA-I. Conclusion: The content review process subsidized a clarification of the chosen concept, contributing to a future refinement and improvement of the study diagnosis and its components present in NANDA-I.

scholarly journals Eip74EF is a dominant modifier for ALS-FTD linked mutant VCP phenotypes in Drosophila, but not miR-34

2020 ◽  
Author(s):  
Madeleine R. Chalmers ◽  
JiHye Kim ◽  
Nam Chul Kim
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Frontotemporal Dementia ◽  
Genetic Modifier ◽  
Disease Model ◽  
The Other ◽  
Beneficial Effects ◽  
Downstream Target ◽  
Age Related ◽  
Lateral Sclerosis

AbstractIn 2012 Liu et al. reported that miR-34 is an age-related miRNA regulating age-associated events and long-term brain integrity in Drosophila. They demonstrated that modulating miR-34 and its downstream target Eip74EF showed beneficial effects on age-related diseases using a Drosophila model of SCA3trQ78. These results imply that miR-34 could be a general genetic modifier and therapeutic candidate for age-related diseases. Therefore, we examined the effect of miR-34 and Eip74EF on another age-related Drosophila disease model. Using a Drosophila model expressing mutant Drosophila VCP that causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), or multisystem proteinopathy (MSP), we demonstrated that abnormal eye phenotypes generated by Drosophila VCP R152H were rescued when expressed with Eip74EF siRNA. Contrary to our expectation, miR-34 overexpression resulted in lethality when expressed with mutant VCP. Our data indicate that the other downstream targets of miR-34 might more significantly interact with mutant VCP, causing lethality. Identifying transcriptional targets of Eip74EF might provide valuable insights into diseases caused by mutations in VCP such as ALS, FTD, and MSP.

Vowel-Specific Intelligibility and Acoustic Patterns in Individuals With Dysarthria Secondary to Amyotrophic Lateral Sclerosis

2019 ◽  
Vol 62 (1) ◽  
pp. 34-59 ◽  
Author(s):  
Jimin Lee ◽  
Emily Dickey ◽  
Zachary Simmons
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Significant Interaction ◽  
The Other ◽  
Vowel Duration ◽  
Spectral Change ◽  
Acoustic Correlates ◽  
Vowel Space ◽  
High Vowels ◽  
Lateral Sclerosis

Purpose The purpose of the study was to investigate vowel-specific intelligibility and acoustic patterns of individuals with different severities of dysarthria secondary to amyotrophic lateral sclerosis (ALS). Method Twenty-three individuals with dysarthria secondary to ALS and 22 typically aging individuals participated as speakers. Participants with ALS were divided into 2 severity groups (severe, mild). For vowel-specific intelligibility data, 135 listeners participated in the study. Vowel-specific intelligibility, intrinsic vowel duration, 1st and 2nd formants (F1 and F2), vowel inherent spectral change (VISC), and absolute VISC were examined. Results A significant interaction between severity group and the vowel-specific intelligibility pattern as well as F1, F2 VISC, and absolute F2 VISC was observed. Specifically, individuals with severe dysarthria showed a significantly less intelligible /ɪ/ than /ɛ/, unlike individuals with mild dysarthria and typically aging individuals. In addition, vowel intelligibility of /ɪ/ showed the strongest association to the severity measures in individuals with ALS. A number of vowel-specific findings are reported in the acoustic variables. Acoustic correlates of vowel-specific intelligibility were identified. Conclusion Vowel-specific intelligibility patterns are different across severity groups; particularly, low intelligibility of /ɪ/ was noted in individuals with severe dysarthria. Individuals with dysarthria maintained the acoustic contrast in duration and F1 VISC among vowels but did not maintain the other spectral contrasts. Reduction of acoustic vowel space was observed primarily due to high F1 in high vowels in individuals with severe dysarthria. Regression findings suggest that the high F1 values of high and mid vowels and F2 reduction of high- and mid-front vowels decreased vowel-specific intelligibility. In addition, vowel duration influenced the vowel intelligibility of vowels that required short intrinsic vowel duration. Lastly, F2 VISC influenced the vowel intelligibility of /ɪ/. Overall, the vowel-specific intelligibility pattern is related to both vowel-specific characteristics and group-specific articulatory control dysfunction.

scholarly journals Serum naturally occurring anti-TDP-43 auto-antibodies are increased in amyotrophic lateral sclerosis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Elisa Conti ◽  
Gessica Sala ◽  
Susanna Diamanti ◽  
Marco Casati ◽  
Christian Lunetta ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Serum Levels ◽  
The Other ◽  
Diagnostic Process ◽  
Healthy Controls ◽  
Naturally Occurring ◽  
Als Patients ◽  
First Time ◽  
Lateral Sclerosis

AbstractAmyotrophic Lateral Sclerosis (ALS) patients express significant clinical heterogeneity that often hinders a correct diagnostic definition. Intracellular deposition of TDP-43, a protein involved in RNA metabolism characterizes the pathology. Interestingly, this protein can be detected in serum, wherein cognate naturally-occurring auto-antibodies (anti-TDP-43 NAb) might be also present, albeit they have never been documented before. In this exploratory study, we quantified the levels of both anti-TDP-43 NAb and TDP-43 protein as putative accessible markers for improving the ALS diagnostic process by using ELISA in N = 70 ALS patients (N = 4 carrying TARDBP mutations), N = 40 age-comparable healthy controls (CTRL), N = 20 motor neuron disease mimics (MN-m), N = 20 Alzheimer’s disease (AD) and N = 15 frontotemporal lobar degeneration (FTLD) patients. Anti-TDP-43 NAb were found to be significantly increased in ALS patients compared to all the other groups (p < 0.001). On the other hand, the distribution of serum levels of TDP-43 protein was highly variable among the various groups. Levels were increased in ALS patients, albeit the highest values were detected in MN-m patients. NAb and protein serum levels failed to correlate. For the first time, we report that serum anti-TDP-43 NAb are detectable in human serum of both healthy controls and patients affected by a variety of neurodegenerative disorders; furthermore, their levels are increased in ALS patients, representing a potentially interesting trait core marker of this disease. Further studies are needed to clarify the exact role of the NAb. This information might be extremely useful for paving the way toward targeting TDP-43 by immunotherapy in ALS.

scholarly journals Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Xueping Chen ◽  
Jiao Liu ◽  
Qian-Qian Wei ◽  
Ru Wei Ou ◽  
Bei Cao ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
The Other ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Spastic Paraplegia ◽  
Targeted Next Generation Sequencing ◽  
Variants Of Unknown Significance ◽  
Lateral Sclerosis

Abstract Background Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. Methods Targeted next-generation sequencing was performed on the patients to identify disease-causing mutations. Variants were analyzed according to their predicted pathogenicity and their relevance to the clinical phenotypes. The segregation in the family members was validated by Sanger sequencing. Results A total of 12 mutations in SPG11 gene from 9 index cases were identified, including 6 frameshift mutations, 3 missense mutations, 1 nonsense mutation, 1 splicing mutation, and 1 intron deletion mutation. In 6 of these patients, the mutations were homozygous, and the other 3 patients carried two compound heterozygous mutations. Six mutations were novel; 2 were classified as pathogenic, 1 were considered as likely pathogenic, and the other 3 were variants of unknown significance. Additionally, 1 missense heterozygous variant we found was also carried by amyotrophic lateral sclerosis (ALS) patient. Clinically and electrophysiologically, some of our ARHSP patients partially shared various features of autosomal-recessive juvenile amyotrophic lateral sclerosis (ARJALS), including combination of both UMN and LMN degeneration. Conclusions The results contribute to extending of the SPG11 gene mutation spectrum and emphasizing a putative link between ARHSP and ARJALS.

The use of mesenchymal stem cells (MSCs) for amyotrophic lateral sclerosis (ALS) therapy – a perspective on cell biological mechanisms

2017 ◽  
Vol 28 (7) ◽  
pp. 725-738 ◽  
Author(s):  
Bor Luen Tang
Keyword(s):  
Stem Cells ◽  
Amyotrophic Lateral Sclerosis ◽  
Mesenchymal Stem Cells ◽  
Immune Cells ◽  
Therapeutic Option ◽  
Mechanisms Of Action ◽  
Biological Mechanisms ◽  
Beneficial Effects ◽  
Motor Neuron Survival ◽  
Lateral Sclerosis

AbstractRecent clinical trials of mesenchymal stem cells (MSCs) transplantation have demonstrated procedural safety and clinical proof of principle with a modest indication of benefit in patients with amyotrophic lateral sclerosis (ALS). While replacement therapy remained unrealistic, the clinical efficacy of this therapeutic option could be potentially enhanced if we could better decipher the mechanisms underlying some of the beneficial effects of transplanted cells, and work toward augmenting or combining these in a strategic manner. Novel ways whereby MSCs could act in modifying disease progression should also be explored. In this review, I discuss the known, emerging and postulated mechanisms of action underlying effects that transplanted MSCs may exert to promote motor neuron survival and/or to encourage regeneration in ALS. I shall also speculate on how transplanted cells may alter the diseased environment so as to minimize non-neuron cell autonomous damages by immune cells and astrocytes.

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