Publications by authors named "N Caron"
Background: Transthoracic echocardiography, a validated tool for risk assessment in non-pregnant population with sickle cell disease (SCD), uses tricuspid regurgitant velocity (TRV) over 2.5 m/s is an independent mortality risk factor. Its applicability in obstetrics lacks sufficient evidence.
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- Indigenous perspectives are often lacking in genomic research, and qualitative methods can enhance inclusivity by fostering collaboration aligned with their rights.
- A review of studies revealed a variety of participatory practices involving Indigenous communities, emphasizing the importance of engagement and co-creation throughout the research process.
- The findings highlight the need for adaptable and community-led approaches in genomic research, providing valuable insights for better implementation and reporting in future studies.
Article Synopsis
- Huntington disease (HD) is caused by a mutation in the huntingtin gene leading to increased levels of a toxic protein (mHTT), and potential treatments focus on reducing this protein.
- Current methods for measuring mHTT in cerebrospinal fluid may not accurately quantify it due to the complexity of protein species present and limitations of using a single protein standard for comparison.
- The study suggests that rather than trying to report absolute concentrations of mHTT, it is more reliable to use relative measurements based on assay signal intensity to better reflect mHTT levels in patients.
Article Synopsis
- Therapeutic strategies to lower mutant huntingtin (mHTT) levels show promise in reversing Huntington's disease (HD) symptoms in animal models, highlighting the need for effective biomarkers to evaluate these therapies.
- Neurofilament light chain (NfL) is a neurodegeneration biomarker that increases in the cerebrospinal fluid (CSF) and blood as HD progresses, but its role in assessing treatment efficacy remains unclear.
- In studies with YAC128 mice, NfL levels were elevated compared to control mice, and while lowering mHTT before disease symptoms had minimal impact on plasma NfL, it led to a significant reduction in CSF NfL, especially when treatment was started after disease onset.
Huntington's disease (HD) is a fatal neurodegenerative disease caused by a trinucleotide repeat expansion in exon 1 of the huntingtin gene (HTT) that results in toxic gain of function and cell death. Despite its monogenic cause, the pathogenesis of HD is highly complex, and increasing evidence indicates that, in addition to the full-length (FL) mutant HTT protein, the expanded exon 1 HTT (HTTexon1) protein that is translated from the HTT1a transcript generated by aberrant splicing is prone to aggregate and might contribute to HD pathology. This finding suggests that reducing the expression of HTT1a might achieve a greater therapeutic benefit than targeting only FL mutant HTT.
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