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Amyotrophic Lateral Sclerosis - Crossref

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Last Updated: 27 June 2022

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Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis

Abstract Background The time of life in patients with amyotrophic lateral sclerosis is variable, and the genetic factors that play a role in the ALS survival are not well understood. A network meta-analysis of ALS causative/risk genes, as well as a systematic review and pairwise meta-analysis of other genetic modifiers were conducted. In addition, the UNC13A rs12608932 CC genotype and ZNF521B C allele shortened the life of ALS by a short span of time; however, APOE rs1541160 did not have any effect on ALS' survival. Our study syntherated and compared results for prognostic genetic factors in ALS, and it may have helped to diagnose ALS pathogenesis and drug manufacture, as well as clinical trials and drug testing.

Source link: https://doi.org/10.1186/s12916-022-02411-3


Alteration of interoceptive sensitivity: expanding the spectrum of behavioural disorders in amyotrophic lateral sclerosis

Background and Introduction Amyotrophic lateral sclerosis is a neurodegenerative disorder with progressive decrease of upper and lower motor neurons. Aims: The heartbeat perception task is a well-established task that can be used to measure IS in ALS patients. Methods Fifty-five ALS patients and 41 caregivers underwent the heartbeat perception survey as well as extensive analysis of motor, cognitive, body awareness, affective, and emotion domains. The results: ALS patients had lower IS than CG. Patients with ALS and their caregivers There were no significant differences between patients with ALS and their caregivers on questionnaires for depression and anxiety. Regardless of cognitive and motor impairment, ALS patients' interoceptive sensitivity has decreased, indicating decreased interoceptive sensitivity, which is related to poorer ability to express emotions and decreased focus on pain. Alteration of interoception may be a specific behavioral characteristic in ALS patients' spectrum of emotion processing deficits.

Source link: https://doi.org/10.1007/s10072-022-06231-4


ATXN2 intermediate expansions in amyotrophic lateral sclerosis

We investigated the presence of ATXN2 polyQ expansions in 9268 DNA samples obtained from people with amyotrophic lateral sclerosis, amyotrophic lateral sclerosis with frontotemporal dementia, Lewy body dementia, and age matched controls in amyotrophic lateral sclerosis, amyotrophic lateral sclerosis with frontotemporal dementia, amyotrophic lateral sclerosis with frontotemporal dementia, In a subset of 1362 patients with amyotrophic lateral sclerosis with complete medical results, we could not confirm or confirm previous studies of amyotrophic lateral sclerosis or shorter survival in 25 patients with expansions. These latest reports show that repeats of ATXN2 u226531 polyQ increase the risk of amyotrophic lateral sclerosis in amyotrophic lateral sclerosis in amyotrophic lateral sclerosis and, in addition, an elevated risk of amyotrophic lateral sclerosis with frontotemporal dementia. The absence of a more pronounced phenotype in amyotrophic lateral sclerosis patients with expansions has ramifications for ongoing gene-silencing trials for amyotrophic lateral sclerosis patients.

Source link: https://doi.org/10.1093/brain/awac167


P.047 Implications of Gold Coast Criteria in diagnosis of amyotrophic lateral sclerosis in a large subspecialty clinic

Background: The desire to categorize the diagnosis of amyotrophic lateral sclerosis and refine clinical trial samples has developed. We investigated the sensitivity of GCC and potential effects on therapeutic trial enrollment. Methods: Between 2016 u2013 2021, we conducted a single center retrospective review of patients with ALS between 2016 and 2021. We compared sensitivity and investigated the effects GCC might have on enrollment in landmark ALS trials. We compared sensitivity and estimated the risks GCC might have on enrollment. GCC are more sensitive than rEEC and AC at the time of diagnosis in ALS, according to the authors. Utilizing GCC in our population would increase clinical trial participation and make results more generalizable.

Source link: https://doi.org/10.1017/cjn.2022.148


GP.3 Measurement of decremental response is repeatable in amyotrophic lateral sclerosis

Background: In amyotrophic lateral sclerosis, a neuromuscular junction dysfunctional junction impairment has been identified. If testing is repeatable, the degree of repetitive nerve stimulation decrement may indicate disease involvement. Decremental response in patients with ALS patients was determined by test-retest correlations. Correlation was also good in median-APB muscles with a higher Medical Research Council grade. Conclusions: In median-APB and accessory-TRAP, there is a good test-retest correlation, but not in ulnar-ADM.

Source link: https://doi.org/10.1017/cjn.2022.87


Limitations of Sniff Nasal Pressure as an Outcome Measurement in Amyotrophic Lateral Sclerosis Patients in a Clinical Trial

Objects: The aim of this research was to determine the adequacy of SNIP as an outcome measure in a phase III clinical trial with a lead-in design. Although FVC and ALSFRS-R decreased in tandem, SNIPsitt services dropped significantly less than FVC and FVC, relative to ALSFRS-R and FVC, down to 4 months after enrollment. Despite odd baseline results, more than half of patients had blood sugar levels equal to or above baseline SNIPsitt measures after 3 months. The optimal number of SNIPs in ALS clinical trials has yet to be determined, according to the researchers.

Source link: https://doi.org/10.1159/000339415


Pulmonary function in patients with Amyotrophic Lateral Sclerosis at disease onset

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disorder that affects both the upper and lower motor neurons. In addition, distinguishing between the types of disease onset, bulbar, leg muscle, and a combination was sought in the study. Initial PFT were obtained from 32 consecutive patients in our clinic with the diagnosis of ALS and were classified by the time of disease onset. In the bulbar onset group, the MVV was expected to be lessened and the RV was expected to be higher. Normal spirometric measurements, such as the FVC and MVV, are likely to show inspiratory muscle weakness and increased RV likely reflect expiratory muscle weakness. The type of disease onset did not lead to a particular pattern of PFT abnormalities.

Source link: https://doi.org/10.4081/monaldi.2012.146


Altered Expression of Cardiac Ankyrin Repeat Protein and Its Homologue, Ankyrin Repeat Protein with PEST and Proline-Rich Region, in Atrophic Muscles in Amyotrophic Lateral Sclerosis

CARP, or cardiac ankyrin repeat protein, is a protein that is scarcely present in the heart but barely expressed in skeletal muscle. Ankyrin repeat protein with PEST and proline-rich region has been identified by researchers, who are homologous to CARP and preferentially expressed in type 1 skeletal muscle fibers. In experimentally denervated skeletal muscles in mice, we also found that both ARPP and CARP expression is promoted. In amyotrophic lateral sclerosis, this study sought to determine the expression pattern of ARPP and CARP. Methods: We immunohistochemically analyzed the expression of ARPP and CARP in nine ALS patients' skeletal muscles. CARP was mistakenly expressed in atrophic skeletal muscle fiber fibers in ALS, according to the researchers. Conclusion: These results show that type-specific expression patterns of ARPP and CARP are altered in ALS' skeletal muscles.

Source link: https://doi.org/10.1159/000069329

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions