RESUMO
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in organ systems such as the brain, skin, kidneys and lungs. Patients with TSC are usually diagnosed early in life. However, in some cases, the diagnosis is delayed until adulthood because various manifestations occur at various times throughout an individual's life. In this regard, we present the case of a female patient diagnosed at the beginning of the seventh decade of life. The patient had a history of seizures and showed clinical findings on the skin (facial angiofibromas, ungual fibromas, 'Confetti-like' skin lesions, shagreen patch), brain (cortical tubers), heart (cardiac rhabdomyomas), kidneys (angiomyolipomas) and a positive genetic test for mutations in TSC2, fulfilling the diagnostic criteria. We compared the differences between manifestations in patients diagnosed during childhood and adulthood. Knowledge of the clinical spectrum of TSC allows early identification.
RESUMO
Introduction and objectives Type 2 diabetes mellitus (T2DM) has been one of the main risk factors associated with mortality from the coronavirus disease 2019 (COVID-19). Insulin resistance (IR) is a preceding and underlying condition of T2DM, which has been thought that it could increase mortality from COVID-19 since it favors the entry of severe acute respiratory syndrome coronavirus type 2 in the host cell. This article reports a biochemical study that estimated the prevalence of IR in COVID-19 patients and non-diabetic patients without COVID-19 history. It also assesses the prognostic role of IR in the evolution of patients with COVID-19. Materials and methods In this single-center, retrospective and cross-sectional design, we included patients with severe and critical COVID-19 and non-diabetic patients without COVID-19 history. We calculated the Homeostatic Model Assessment Insulin Resistance (HOMA-IR) and defined IR with a HOMA-IR >2.6. We estimated the prevalence of IR in both groups and used x 2 to assess the association between IR and mortality from severe and critical COVID-19. Results One hundred and twenty-three COVID-19 patients were included with a mean age of 53±15 years: 77 (62.6%) were men and 46 (37.4%) were women. Eighty (65%) patients were critical while the rest were severe. Forty-three (35%) patients died. Seventy-one (57.7%) patients had IR; there was no evidence of an association between IR and mortality from severe or critical COVID-19. Fifty-five non-diabetic patients without COVID-19 history were included with a median age of 40 (26-60) years; 35 (63.6%) were men and 20 (36.4%) were women. Nineteen (34.5%) people had IR. Conclusion IR was more prevalent in patients with severe and critical COVID-19 than in non-diabetic patients without COVID-19 history. Our results showed no evidence of the association between IR and mortality from severe and critical COVID-19.