Experiences with advance care planning in amyotrophic lateral sclerosis: Qualitative longitudinal study with people with amyotrophic lateral sclerosis and their family carers
CONCLUSION: This study emphasizes how factors such as coping with the disease and relational dynamics shape individuals' thoughts about future care over time and how psychological, social, and medical factors are interwoven in advance care planning. The findings advocate for a process-oriented perspective, portraying advance care planning as an ongoing dialog, encompassing the needs, concerns, and emotions of both people with amyotrophic lateral sclerosis and their family carers.PMID:38610119 | DOI:10.1177/02692163241242320 (Source: Palliative Medicine)
Source: Palliative Medicine - April 13, 2024 Category: Palliative Care Authors: Isabel Vandenbogaerde Lieve Van den Block Luc Deliens Emma Carduff Agnes van der Heide Jan De Bleecker Aline De Vleminck Source Type: research
Treating Alzheimer's disease using nanoparticle-mediated drug delivery strategies/systems
Ageing Res Rev. 2024 Apr 12;97:102291. doi: 10.1016/j.arr.2024.102291. Online ahead of print.ABSTRACTThe administration of promising medications for the treatment of neurodegenerative disorders (NDDs), such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS) is significantly hampered by the blood-brain barrier (BBB). Nanotechnology has recently come to light as a viable strategy for overcoming this obstacle and improving drug delivery to the brain. With a focus on current developments and prospects, this review article examines the use of nanoparticles t...
Source: Ageing Research Reviews - April 13, 2024 Category: Genetics & Stem Cells Authors: Aryan Kia Roghani Ricardo Isaiah Garcia Ali Roghani Aananya Reddy Sachi Khemka Ruhananhad P Reddy Vasanthkumar Pattoor Michael Jacob P Hemachandra Reddy Ujala Sehar Source Type: research
Experiences with advance care planning in amyotrophic lateral sclerosis: Qualitative longitudinal study with people with amyotrophic lateral sclerosis and their family carers
CONCLUSION: This study emphasizes how factors such as coping with the disease and relational dynamics shape individuals' thoughts about future care over time and how psychological, social, and medical factors are interwoven in advance care planning. The findings advocate for a process-oriented perspective, portraying advance care planning as an ongoing dialog, encompassing the needs, concerns, and emotions of both people with amyotrophic lateral sclerosis and their family carers.PMID:38610119 | DOI:10.1177/02692163241242320 (Source: Palliative Medicine)
Source: Palliative Medicine - April 13, 2024 Category: Palliative Care Authors: Isabel Vandenbogaerde Lieve Van den Block Luc Deliens Emma Carduff Agnes van der Heide Jan De Bleecker Aline De Vleminck Source Type: research
Flavan-3-ols, flavonoids, anthocyanidins and triterpenoids induces TIE2 phosphorylation -a candidate target for the vascular protective effects
Nat Prod Res. 2024 Apr 12:1-5. doi: 10.1080/14786419.2024.2340049. Online ahead of print.ABSTRACTVascular system is essential for the body to maintain health. Dysregulated vascular system leads to cardiovascular diseases and are observed in ischaemic stroke, Alzheimer's disease, amyotrophic lateral sclerosis, and diabetes. TIE2 is a tyrosine kinase receptor expressed on vascular endothelial cells and contributes to the maintenance of a vascular system. In this paper, we screened for natural products with an activity to induce phosphorylation of TIE2, which will be beneficial for protection of a vascular system. Employing H...
Source: Natural Product Research - April 12, 2024 Category: Biochemistry Authors: Saki Igarashi Sayaka Hioki Naoto Sakamaru Asahi Suzuki Mihoko Kurokawa Eisuke Kato Source Type: research
C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?
Rev Neurol (Paris). 2024 Apr 11:S0035-3787(24)00488-0. doi: 10.1016/j.neurol.2024.03.008. Online ahead of print.ABSTRACTThe major gene underlying monogenic forms of amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD) is C9ORF72. The causative mutation in C9ORF72 is an abnormal hexanucleotide (G4C2) repeat expansion (HRE) located in the first intron of the gene. The aim of this review is to propose a comprehensive update on recent developments on clinical, biological and therapeutics aspects related to C9ORF72 in order to highlight the current understanding of genotype-phenotype correlations, and also on ...
Source: Revue Neurologique - April 12, 2024 Category: Neurology Authors: C Sellier P Corcia P Vourc'h L Dupuis Source Type: research
Flavan-3-ols, flavonoids, anthocyanidins and triterpenoids induces TIE2 phosphorylation -a candidate target for the vascular protective effects
Nat Prod Res. 2024 Apr 12:1-5. doi: 10.1080/14786419.2024.2340049. Online ahead of print.ABSTRACTVascular system is essential for the body to maintain health. Dysregulated vascular system leads to cardiovascular diseases and are observed in ischaemic stroke, Alzheimer's disease, amyotrophic lateral sclerosis, and diabetes. TIE2 is a tyrosine kinase receptor expressed on vascular endothelial cells and contributes to the maintenance of a vascular system. In this paper, we screened for natural products with an activity to induce phosphorylation of TIE2, which will be beneficial for protection of a vascular system. Employing H...
Source: Natural Product Research - April 12, 2024 Category: Biochemistry Authors: Saki Igarashi Sayaka Hioki Naoto Sakamaru Asahi Suzuki Mihoko Kurokawa Eisuke Kato Source Type: research
Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family
We report the first AD SPG18 family with a complicated phenotype, and we ruled out a dominant negative effect of V168M on erlin2 oligomerization. Therefore, our data do not support the hypothesis of a relationship between the mode of inheritance and the phenotype, but confirm the multifaceted nature of SPG18 on both genetic and clinical point of view. Clinicians should be aware of the importance of conducting an in-depth clinical evaluation to unmask all the possible manifestations associated to an only apparently pure SPG18 phenotype. We confirm the genotype –phenotype correlation between V168M and ALS emphasizing the v...
Source: Neurological Sciences - April 12, 2024 Category: Neurology Source Type: research
Identification of hub genes and diagnostic efficacy for triple-negative breast cancer through WGCNA and Mendelian randomization
ConclusionWe established a co-expression network using the WGCNA methodology to detect pivotal genes associated with TNBC. This finding holds promise for advancing the creation of pre-symptomatic diagnostic tools and deepening our comprehension of the pathogenic mechanisms involved in TNBC risk genes. (Source: Hormones and Cancer)
Source: Hormones and Cancer - April 12, 2024 Category: Cancer & Oncology Source Type: research
Neurophysiological and imaging biomarkers of lower motor neuron dysfunction in motor neuron diseases/amyotrophic lateral sclerosis: IFCN handbook chapter
Clin Neurophysiol. 2024 Mar 20;162:91-120. doi: 10.1016/j.clinph.2024.03.015. Online ahead of print.ABSTRACTThis chapter discusses comprehensive neurophysiological biomarkers utilised in motor neuron disease (MND) and, in particular, its commonest form, amyotrophic lateral sclerosis (ALS). These encompass the conventional techniques including nerve conduction studies (NCS), needle and high-density surface electromyography (EMG) and H-reflex studies as well as novel techniques. In the last two decades, new methods of assessing the loss of motor units in a muscle have been developed, that are more convenient than earlier met...
Source: Clinical Neurophysiology - April 11, 2024 Category: Neurology Authors: Cindy Shin-Yi Lin James Howells Seward Rutkove Sanjeev Nandedkar Christoph Neuwirth Yu-Ichi Noto Nortina Shahrizaila Roger G Whittaker Hugh Bostock David Burke Hatice Tankisi Source Type: research
Neurophysiological and imaging biomarkers of lower motor neuron dysfunction in motor neuron diseases/amyotrophic lateral sclerosis: IFCN handbook chapter
Clin Neurophysiol. 2024 Mar 20;162:91-120. doi: 10.1016/j.clinph.2024.03.015. Online ahead of print.ABSTRACTThis chapter discusses comprehensive neurophysiological biomarkers utilised in motor neuron disease (MND) and, in particular, its commonest form, amyotrophic lateral sclerosis (ALS). These encompass the conventional techniques including nerve conduction studies (NCS), needle and high-density surface electromyography (EMG) and H-reflex studies as well as novel techniques. In the last two decades, new methods of assessing the loss of motor units in a muscle have been developed, that are more convenient than earlier met...
Source: Clinical Neurophysiology - April 11, 2024 Category: Neurology Authors: Cindy Shin-Yi Lin James Howells Seward Rutkove Sanjeev Nandedkar Christoph Neuwirth Yu-Ichi Noto Nortina Shahrizaila Roger G Whittaker Hugh Bostock David Burke Hatice Tankisi Source Type: research
Neurophysiological and imaging biomarkers of lower motor neuron dysfunction in motor neuron diseases/amyotrophic lateral sclerosis: IFCN handbook chapter
Clin Neurophysiol. 2024 Mar 20;162:91-120. doi: 10.1016/j.clinph.2024.03.015. Online ahead of print.ABSTRACTThis chapter discusses comprehensive neurophysiological biomarkers utilised in motor neuron disease (MND) and, in particular, its commonest form, amyotrophic lateral sclerosis (ALS). These encompass the conventional techniques including nerve conduction studies (NCS), needle and high-density surface electromyography (EMG) and H-reflex studies as well as novel techniques. In the last two decades, new methods of assessing the loss of motor units in a muscle have been developed, that are more convenient than earlier met...
Source: Clinical Neurophysiology - April 11, 2024 Category: Neurology Authors: Cindy Shin-Yi Lin James Howells Seward Rutkove Sanjeev Nandedkar Christoph Neuwirth Yu-Ichi Noto Nortina Shahrizaila Roger G Whittaker Hugh Bostock David Burke Hatice Tankisi Source Type: research
Stathmin 2 is a potential treatment target for TDP-43 proteinopathy in amyotrophic lateral sclerosis
(Source: Translational Neurodegeneration)
Source: Translational Neurodegeneration - April 11, 2024 Category: Neurology Source Type: research
C9ORF72 patient-derived endothelial cells drive blood-brain barrier disruption and contribute to neurotoxicity
AbstractThe blood-brain barrier (BBB) serves as a highly intricate and dynamic interface connecting the brain and the bloodstream, playing a vital role in maintaining brain homeostasis. BBB dysfunction has been associated with multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS); however, the role of the BBB in neurodegeneration is understudied. We developed an ALS patient-derived model of the BBB by using cells derived from 5 patient donors carryingC9ORF72 mutations. Brain microvascular endothelial-like cells (BMEC-like cells) derived fromC9ORF72-ALS patients showed altered gene expression, c...
Source: Fluids and Barriers of the CNS - April 11, 2024 Category: Neuroscience Source Type: research
Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model
Nucleic Acids Res. 2024 Apr 10:gkae250. doi: 10.1093/nar/gkae250. Online ahead of print.ABSTRACTExpansion of a G4C2 repeat in the C9orf72 gene is associated with familial Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). To investigate the underlying mechanisms of repeat instability, which occurs both somatically and intergenerationally, we created a novel mouse model of familial ALS/FTD that harbors 96 copies of G4C2 repeats at a humanized C9orf72 locus. In mouse embryonic stem cells, we observed two modes of repeat expansion. First, we noted minor increases in repeat length per expansion event, which...
Source: Cell Research - April 10, 2024 Category: Cytology Authors: Nada Kojak Junko Kuno Kristina E Fittipaldi Ambereen Khan David Wenger Michael Glasser Roberto A Donnianni Yajun Tang Jade Zhang Katie Huling Roxanne Ally Alejandro O Mujica Terrence Turner Gina Magardino Pei Yi Huang Sze Yen Kerk Gustavo Droguett Marine Source Type: research
