The Diagnostic Experiences of Women With Polycystic Ovary Syndrome (PCOS) in Ontario, Canada.

Polycystic ovary syndrome (PCOS) is the most common endocrine syndrome that disproportionally affects women of childbearing age (~8% to 13% of women worldwide). If unmanaged, it can lead to chronic, lifelong complications. Over the past decade, improvements in diagnostic guidelines have not produced an expected reduction in the diagnostic timeframe.

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis. We have now generated complementary methylome data and combine these two data sets to perform a comprehensive "multi-omic" analysis to clarify the molecular mechanisms initiating RNA misregulation in ALS. We found that c9ALS and sALS patients have generally distinct but overlapping methylome profiles, and that the c9ALS- and sALS-affected genes and pathways have similar biological functions, indicating conserved pathobiology in disease.

Measuring Resilience in Two Generations: Psychometric Properties of Available Instruments.

Background And Purpose: This study examines measures of resilience to identify the best available measure for future research to assess efficacy of a low-cost intervention that enhances resilience of older adults and youth (i.e., intergenerational transfer of ethnic culture).

ALS and FTD: an epigenetic perspective.

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two fatal neurodegenerative diseases seen in comorbidity in up to 50 % of cases. Despite tremendous efforts over the last two decades, no biomarkers or effective therapeutics have been identified to prevent, decelerate, or stop neuronal death in patients. While the identification of multiple mutations in more than two dozen genes elucidated the involvement of several mechanisms in the pathogenesis of both diseases, identifying the hexanucleotide repeat expansion in C9orf72, the most common genetic abnormality in ALS and FTD, opened the door to the discovery of several novel pathogenic biological routes, including chromatin remodeling and transcriptome alteration.