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Amyotrophic Lateral Sclerosis - Wiley Online Library

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Last Updated: 27 June 2022

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Role of plasma phosphorylated neurofilament heavy chain (pNfH) in amyotrophic lateral sclerosis

To prove its role as a diagnostic and prognostic biomarker in ALS, we examined plasma pNfH concentrations in order to corroborate its position as a diagnostic and prognostic biomarker in ALS. Incident ALS cases that were enrolled in a population-based registry were retrospectively selected and matched by sex and age with a cohort of healthy volunteers. Using operating characteristic curves, we established the discrimination capability of pNfH. Patients were significantly higher in patients compared to controls. Compared to spinal onset, Bulbaru2010onset cases had elevated plasma pNfH at a higher rate than surgical onset. In addition, plasma pNfH was positively linked to disease progression rate. Our results demonstrated the potential use of plasma pNfH as a diagnostic biomarker in ALS.

Source link: https://onlinelibrary.wiley.com/doi/10.1111/jcmm.17232


Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences

Individuals with amyotrophic lateral sclerosis and frontotemporal dementia are affected by genetic counseling and diagnostic genetic testing as part of the multidisciplinary care of people with amyotrophic lateral sclerosis and frontotemporal dementia. Participants with ALS/MND/FTD/FTD or their relatives were interviewed in a semi-structured interview. The study was designed to include a large number of people with differing disease status and abilities. The reflexive thematic investigation was based on bioecological theory as the basis for the reflexive thematic investigation. From 13 Australian families, eighteen individuals with ALS/MND/FTD or their relatives were affected. Oneu2019s genetic counseling experience was influenced by personal circumstances, time, and proximal causes, which was consistent with bioecological theory. These provided the amount of detail and assistance that was needed in the genetic counseling process. Although some client circumstances cannot be modified, efforts to enhance genetic counseling experiences could be made to improve genetic counseling services by increasing interactions between the client and their care team. Although some client circumstances cannot be changed, some client circumstances can be modified, some patient circumstances cannot be changed, improvements could be made to enhance genetic counseling experiences.

Source link: https://onlinelibrary.wiley.com/doi/10.1002/jgc4.1591

* 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