Divergent Molecular Pathways for Toxicity of Selected Mutant C9ORF72-derived Dipeptide Repeats.

Expansion of a hexanucleotide repeat in a noncoding region of the C9ORF72 gene is responsible for a significant fraction of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) cases, but mechanisms linking mutant gene products to neuronal toxicity remain debatable. Pathogenesis was proposed to involve the production of toxic RNA species and/or accumulation of toxic dipeptide repeats (DPRs) but distinguishing between these mechanisms has been challenging. In this study, we first use complementary model systems for analyzing pathogenesis in adult-onset neurodegenerative diseases to characterize the pathogenicity of DPRs produced by Repeat Associated Non-ATG translation of C9ORF72 in specific cellular compartments: isolated axoplasm and giant synapse from the squid.

HIV self-testing and repeat testing in pregnancy and postpartum in Northern Nigeria.

Objective: Incident HIV infections in pregnant and breastfeeding mothers pose significant challenges to prevention of mother-to-child HIV transmission efforts in sub-Saharan Africa. We identified the predictors of willingness to self-test for HIV when retesting in pregnancy and postpartum among antenatal clients in a tertiary hospital in Northern Nigeria.

Methods: Structured and validated questionnaires were administered to a cross section of antenatal attendees (n = 370) in March 2021.