Search results for "Amyotrophic lateral sclerosis"

Effect of a short-term psychological intervention on the anxiety and depression of amyotrophic lateral sclerosis patients

2014

This study evaluated the effectiveness of a psychological intervention in amyotrophic lateral sclerosis patients, consisting of four semi-structured sessions of cognitive behavioural therapy combined with counselling techniques. An intervention group and a control group were established. The Hospital Anxiety and Depression Scale was used to assess levels of anxiety and depression. In total, fifty-four patients took part. Prior to the intervention, the intervention group displayed rates of 63.3 and 36.7 per cent for anxiety and depression, respectively, falling to 16.7 and 10.0 per cent afterwards. The psychological intervention demonstrated potential for the reduction of levels of anxiety …

Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein

2022

Amyotrophic Lateral Sclerosis (ALS) is a fatal disease affecting both upper and lower motoneurons. The transactive response DNA binding protein (TARDBP) gene, encoding for TDP-43, is one of the most commonly mutated gene associated with familial cases of ALS (10%). We generated a human induced pluripotent stem cell (hiPSC) line from the fibroblasts of an asymptomatic subject carrying the TARDBP p.G376D mutation. This mutation is very rare and was described in a large Apulian family, in which all ALS affected members are carriers of the mutation. The subject here described is the first identified asymptomatic carrier of the mutation.

Long-Term Ventilation in Neuromuscular Patients: Review of Concerns, Beliefs, and Ethical Dilemmas

2019

<b><i>Background:</i></b> Noninvasive mechanical ventilation (NIV) is an effective treatment in patients with neuromuscular diseases (NMD) to improve symptoms, quality of life, and survival. <b><i>Summary:</i></b> NIV should be used early in the course of respiratory muscle involvement in NMD patients and its requirements may increase over time. Therefore, training on technical equipment at home and advice on problem solving are warranted. Remote monitoring of ventilator parameters using built-in ventilator software is recommended. Telemedicine may be helpful in reducing hospital admissions. Anticipatory planning and palliative care should be …

Two in one against motor neuron degeneration: tackling oxidative stress and inflammation with a sulfasalazine derivative.

2012

ALS monocyte-derived microglia-like cells reveal cytoplasmic TDP-43 accumulation, DNA damage, and cell-specific impairment of phagocytosis associated…

2022

Abstract Background Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease characterised by the loss of upper and lower motor neurons. Increasing evidence indicates that neuroinflammation mediated by microglia contributes to ALS pathogenesis. This microglial activation is evident in post-mortem brain tissues and neuroimaging data from patients with ALS. However, the role of microglia in the pathogenesis and progression of amyotrophic lateral sclerosis remains unclear, partly due to the lack of a model system that is able to faithfully recapitulate the clinical pathology of ALS. To address this shortcoming, we describe an approach that generates monocyte-derived mi…

Advances on Cellular Clonotypic Immunity in Amyotrophic Lateral Sclerosis.

2022

Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease, characterized by the progressive degeneration of the upper and lower motor neurons in the cortex and spinal cord. Although the pathogenesis of ALS remains unclear, evidence concerning the role of the clonotypic immune system is growing. Adaptive immunity cells often appear changed in number, or in terms of their activation profiles, both peripherally and centrally; however, their role in ALS appears conflictive. Data from human and animal model studies, which are currently reported in the literature, show that each subset of lymphocytes and their mediators may mediate a protective or toxic mechanism in ALS, affecting both…

Reduction in the Motoneuron Inhibitory/Excitatory Synaptic Ratio in an Early-Symptomatic Mouse Model of Amyotrophic Lateral Sclerosis

2010

Excitotoxicity is a widely studied mechanism underlying motoneuron degeneration in amyotrophic lateral sclerosis (ALS). Synaptic alterations that produce an imbalance in the ratio of inhibitory/excitatory synapses are expected to promote or protect against motoneuron excitotoxicity. In ALS patients, motoneurons suffer a reduction in their synaptic coverage, as in the transition from the presymptomatic (2-month-old) to early-symptomatic (3-month-old) stage of the hSOD1(G93A) mouse model of familial ALS. Net synapse loss resulted from inhibitory bouton loss and excitatory synapse gain. Furthermore, in 3-month-old transgenic mice, remaining inhibitory but not excitatory boutons attached to mot…

INDIVIDUAL AND HEALTH-RELATED QUALITY OF LIFE ASSESSMENT IN AMYOTROPHIC LATERAL SCLEROSIS PATIENTS AND THEIR CAREGIVERS

2004

Abstract: We performed a cross-sectional study aimed to address the quality of life (QoL) and putative associated variables in amyotrophic lateral sclerosis (ALS) patients and their respective caregivers, using both health-related (WHOQOL-BREF) and individual (SEIQoL-DW) QoL instruments. Further, we sought to investigate concordance within patient-caregiver pairs for ratings of respective QoL. Thirty-seven patient-caregiver pairs were included in the study. QoL was rated low by both patients and caregivers, and there was no significant difference between them on scores of overall QoL, even if caregivers showed higher scores on the physical and psychological WHOQOL-BREF domains compared to p…

Social economic costs and health-related quality of life in patients with amyotrophic lateral sclerosis in Spain.

2008

Amyotrophic lateral sclerosis (ALS) is a process that leads to the functional disability of the individual in a relatively short period of time, with a very important limitation of autonomy and affecting the quality of life. We wished to determine the economic burden (direct and indirect costs), as well as health-related quality of life (HRQoL) in patients with ALS in Spain. A cross-sectional study was carried out on 63 patients with ALS during 2004. A retrospective assessment of the use of resources was obtained through questionnaires completed by the patients and/or the patients' caregivers. The approach used was a cost-of-illness study based on a societal perspective. We assessed the HRQ…

Dataset related to article "The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial"

2021

The data support the findings of the study "The Unfolded Protein Response in Amyotrophic Later Sclerosis: Results of a Phase 2 Trial". They include demographic and clinical data at baseline, and changes measured by the primary and secondary outcomes at 6 months