A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.

Idiopathic pulmonary fibrosis (IPF) is a progressive, late-onset disease marked by lung scarring and irreversible loss of lung function. Genetic factors significantly contribute to both familial and sporadic cases, yet there are scarce evidence-based studies highlighting the benefits of integrating genetics into the management of IPF patients. In this study, we performed whole-exome sequencing and telomere length (TL) measurements on IPF patients and their relatives.

Nutrition Education Needs and Barriers of Uninsured Clients who Utilize Free Clinics in Western North Carolina.

Introduction: Many uninsured adults rely on free health clinics for prevention and treatment of chronic disease. Little is known about the nutrition education needs of adults served by free health clinics, especially those living in counties within the Western North Carolina Appalachian Mountain Region.

Methods: An in-person survey was distributed to 202 clients of two free health clinics in western North Carolina.

Exploring Rural, Black Women's Lived Experiences With Physical Activity and Nutrition: A Photo-Elicitation Study.

Eastern North Carolina (ENC) residents have higher rates of type 2 diabetes, lower life expectancy, less physical activity (PA), and higher food insecurity than the rest of North Carolina. Black individuals in ENC may face health disparities due to systemic and societal barriers to PA and a nutritious diet; modifiable behaviors that may improve overall health. The purpose of this study was to explore the lived experiences of rural Black women who live in ENC and who meet the criteria for overweight and obesity in the context of PA and healthful diet promotion.

DUSP1 and SOX2 expression determine squamous cell carcinoma of the salivary gland progression.

Salivary gland squamous cell carcinomas (SG-SCCs) constitute a rare type of head and neck cancer which is linked to poor prognosis. Due to their low frequency, the molecular mechanisms responsible for their aggressiveness are poorly understood. In this work we studied the role of the phosphatase DUSP1, a negative regulator of MAPK activity, in controlling SG-SCC progression.

Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.

Telomeres are nucleoprotein structures at the end of chromosomes that maintain their integrity. Mutations in genes coding for proteins involved in telomere protection and elongation produce diseases such as dyskeratosis congenita or idiopathic pulmonary fibrosis known as telomeropathies. These diseases are characterized by premature telomere shortening, increased DNA damage and oxidative stress.