Publications by authors named "M C Foss-Freitas"
Correction: Endoplasmic reticulum stress in the salivary glands of patients with primary and associated Sjögren's disease, and non-Sjögren's sicca syndrome: a comparative analysis and the influence of chloroquine.
Adv Rheumatol
January 2025
Background: Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy, GL) or partial (partial lipodystrophy, PL; i.e.
View Article and Find Full Text PDFEndoplasmic reticulum stress in the salivary glands of patients with primary Sjögren's syndrome, associated Sjögren's syndrome, and non-Sjögren's sicca syndrome: a comparative analysis and the influence of chloroquine.
Adv Rheumatol
January 2025
Background: Endoplasmic reticulum stress (ERS) and the unfolded protein response (UPR) are adaptive mechanisms for conditions of high protein demand, marked by an accumulation of misfolded proteins in the endoplasmic reticulum (ER). Rheumatic autoimmune diseases (RAD) are known to be associated with chronic inflammation and an ERS state. However, the activation of UPR signaling pathways is not completely understood in Sjögren's disease (SD).
View Article and Find Full Text PDFArticle Synopsis
- A novel genetic cause of partial lipodystrophy has been identified, linked to a nonsense variant in the early B cell factor 2 gene (p.E165X).
- The patient exhibited progressive loss of fat tissue and worsening metabolic health from a young age, indicating an atypical presentation of the condition.
- Laboratory studies show that this genetic variant hinders fat cell development, resulting in an increase of undeveloped cells and inflammation in fat tissues, which disrupts normal tissue function and structure.
Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.
Front Endocrinol (Lausanne)
June 2024
Article Synopsis
- - The study investigates familial partial lipodystrophy (FPLD) in Brazil, focusing on its clinical, metabolic, and genetic characteristics through a multicenter analysis involving 106 patients.
- - Results show a high prevalence of diabetes (57.5%), severe hypertriglyceridemia (34.9%), metabolic-associated fatty liver disease (56.6%), and a notable mortality rate linked to cardiovascular issues (3.8%).
- - The findings highlight the need for better understanding and management of FPLD, particularly due to the serious health complications associated with the disorder in this population.