ABSTRACT
Classical and progeroid congenital lipodystrophies are a collection of rare diseases displaying a large genetic heterogeneity. They occur due to pathogenic variants in genes associated with adipogenesis, DNA repair pathways, and genome stability. Subjects with lipodystrophy exhibit an impairment in the homeostasis of subcutaneous white adipose tissue (sWAT), resulting in low leptin and adiponectin levels, insulin resistance (IR), diabetes, dyslipidemia, ectopic fat deposition, inflammation, mitochondrial and endoplasmic reticulum commitments, among others. However, how pathogenic variants in adipogenesis-related genes modulate DNA repair in some classical congenital lipodystrophies has not been elucidated. In the same way, no data is clarifying how pathogenic variants in DNA repair genes result in sWAT loss in different types of progeroid lipodystrophies. This review will concentrate on the main molecular findings to understand the link between DNA damage/repair and adipogenesis in human and animal models of congenital lipodystrophies. We will focus on classical and progeroid congenital lipodystrophies directly or indirectly related to DNA repair pathways, highlighting the role of DNA repair-related proteins in maintaining sWAT homeostasis.
ABSTRACT
BACKGROUND: Although rare, the rates of diagnosis of male breast cancer (MBC) have been increasing over the years, and it can be quite aggressive in the male organism. Some strategies such as health education disseminating knowledge about MBC can be essential for early discovery and finding better prognosis. OBJECTIVE: Protocol to map the available evidence of health education approaches on MBC. METHODS: A scoping review on health education on MBC will be carried out in Latin American and Caribbean Literature on Health Sciences (LILACS), Web of Science, Scopus, Scielo, Online System of Literature Search and Analysis Medical (MEDLINE), Embase, Virtual Health Library (VHL). Two independent reviewers will perform screening, data extraction, and risk of bias assessment through the Joanna Briggs Institute (JBI) Critical Assessment Checklist. For the quality of evidence, the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) Analysis will be used. RESULTS: The results of this review will be published in a peer-reviewed journal. CONCLUSIONS: This scoping review will provide evidence of how health education on MBC is being addressed in health systems. Evidence can help healthcare professionals and patients recognize the most effective educational inventions in disseminating knowledge and preventing MBC.
