Publications by authors named "Debora Nobrega Lima"
Exercise-induced rhabdomyolysis refers to the breakdown of striated muscle, which releases intracellular elements into the bloodstream due to heavy physical activity. In rare instances, this condition may be the first clinical manifestation of sickle cell trait (SCT). We report on a 31-year-old woman with post-infectious fatigue who, after suffering mild COVID-19 symptoms 3 weeks prior, presented with intense muscle pain in the ankles, dyspnea, and choluria hours after strenuous physical exercise during a practical test.
View Article and Find Full Text PDFCoronary arterial calcification in patients with congenital generalised lipodystrophy: A case series.
Clin Endocrinol (Oxf)
December 2022
Article Synopsis
- - GPIHBP1 is crucial for the function of lipoprotein lipase (LPL), and mutations in the GPIHBP1 gene can cause serious health issues like hypertriglyceridemia and pancreatitis.
- - This study identifies a new homozygous mutation in the GPIHBP1 gene found in twelve patients from Brazil, affecting how the gene processes and leading to significant health implications.
- - The mutation, located in a critical splicing site, results in severe hypertriglyceridemia and low HDL levels in patients, with a notable percentage having a history of acute pancreatitis, indicating a potential founder effect in this population.
Introduction: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. This study aimed to evaluate the life expectancy and the causes of death of patients with BSCL.
Method: We analyzed death certificates, and medical records of BSCL patients who died between 1997 and 2017.