3 documents found, page 1 of 1
SARS‑COV‑2 infection outcomes in patients with congenital generalized lipodystr...
Madeira, Mayara Ponte; Freire, Erika Bastos Lima; Fernandes, Virginia Oliveira; Lima, Grayce Ellen da Cruz Paiva; Melo, Ivana da PonteBackground: A new strain of human coronavirus (HCoV) spread rapidly around the world. Diabetes and obesity are associated with a worse prognosis in these patients. Congenital Generalized Lipodystrophy (CGL) patients generally have poorly controlled diabetes and require extremely high doses of insulin. There is no documentation in the literature of cases of COVID in CGL patients. Thus, we aimed to evaluate the p...
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy...
Montenegro Junior, Renan Magalhães; Lima, Grayce Ellen da Cruz Paiva; Fernandes, Virgínia Oliveira; Montenegro, Ana Paula Dias RangelBackground: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26...
Características ultrassonográficas, funcionais e de autoimunidade tireoideana e...
Lima, Grayce Ellen da Cruz PaivaHigh prevalence of insulin resistance (IR) is a public health problem. It is usually related to secondary abnormalities and thyroid appears to be affected by IR. Early and severe IR is a characteristic of Congenital Generalized Lipodystrophy (CGL), characterized by the near to total absence of subcutaneous adipose tissue. There are no studies about thyroid in CGL. The evaluation of these patients may allow a co...