Objective: To understand the existential transformations of the family caregiver of a person living with Amyotrophic Lateral Sclerosis.
Method: Qualitative study based on assumptions of Martin Heidegger Existential Phenomenology, with 12 family caregivers of the person with Amyotrophic Lateral Sclerosis, in Alagoas. The testimonies were obtained from June 2019 to March 2020 and analyzed, categorized, and discussed based on the theoretical-philosophical framework adopted and thematic literature.
Results: Phenomenological sense of the existential transformations of the family caregiver of a person living with Amyotrophic Lateral Sclerosis, unveiled with the categories: Being the caregiver of the person living with ALS; Being responsible for decision making; Resignifying the existence in view of the possibility of loss; Spirituality influencing the transformation process.
Conclusions: The family caregiver has an appropriate life due to the inherent vicissitudes of the disease, which provides moving moments that lead him to rethink his existence and to value life.
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http://dx.doi.org/10.1590/1983-1447.2021.20200307 | DOI Listing |
The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is an intronic GC repeat expansion in C9orf72. The repeats undergo bidirectional transcription to produce sense and antisense repeat RNA species, which are translated into dipeptide repeat proteins (DPRs). As toxicity has been associated with both sense and antisense repeat-derived RNA and DPRs, targeting both strands may provide the most effective therapeutic strategy.
View Article and Find Full Text PDFJ Med Genet
January 2025
Department of Neurology, Sichuan University, Chengdu, Sichuan, China
Background: Considerable heterogeneity in genotypes and phenotypes has been observed among patients with amyotrophic lateral sclerosis (ALS) harbouring optineurin gene () mutations, as reported in prior studies. The study aimed to elucidate the correlation between genotypes and phenotypes.
Methods: gene variants were screened within a substantial Chinese cohort of patients with ALS, encompassing LoF and rare missense variants.
J Med Chem
January 2025
Centro de Investigaciones Biológicas "Margarita Salas"-CSIC, Ramiro de Maeztu 9, 28040 Madrid, Spain.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease without effective treatment. The progressive motoneuron death in ALS is associated with alterations in lipid metabolism. As its regulation occurs in mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), modulation of mitochondria-ER contacts (MERCs) is emerging as a crucial factor in MAM formation and lipid metabolism control.
View Article and Find Full Text PDFFree Radic Biol Med
January 2025
Graduate School of Life and Medical Sciences, Doshisha University, 1-3 Miyakodani, Tatara, Kyotanabe, Kyoto 610-0394, Japan. Electronic address:
Enzymatically formed side-chain oxysterols function as signaling molecules regulating cholesterol homeostasis and act as intermediates in the biosynthesis of bile acids. In addition to these physiological functions, an imbalance in oxysterol homeostasis has been implicated in pathophysiology. Cholesterol 25-hydroxylase (CH25H) and its product 25-hydroxycholesterol (25-OHC), also formed by autoxidation, are associated with amyotrophic lateral sclerosis.
View Article and Find Full Text PDFSci Rep
January 2025
NeMO Lab, ASST GOM Niguarda Cà Granda Hospital, Milan, Italy.
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that can result in a progressive loss of speech due to bulbar dysfunction, which can have significant negative impact on the patient's mental well-being. Alternative Augmentative Communication (AAC) strategies based on synthetic voices have been shown to assist patients in maintaining communication and improving their Quality of Life (QoL). However, such synthetic voices are often perceived as impersonal and fail to capture the unique voice and identity of the patient.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!