3 documents found, page 1 of 1
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...
Association between cardiovascular autonomic neuropathy and left ventricular hy...
Ponte, Clarisse Mourão Melo; Fernandes, Virgínia Oliveira; Liberato, Christiane Bezerra Rocha; Montenegro, Ana Paula Dias Rangel; Batista, Lívia AlineBackground: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the absence of subcutaneous adipose tissue, severe insulin resistance, diabetes mellitus, and cardiovascular complications, including cardiac autonomic neuropathy (CAN), left ventricular hypertrophy (LVH), and atherosclerosis. The present study aimed to access the association between CAN parameters and cardiovascular abno...
Early commitment of cardiovascular autonomic modulation in Brazilian patients w...
Ponte, Clarisse Mourão Melo; Fernandes, Virgínia Oliveira; Gurgel, Maria Helane Costa; Vasconcelos, Izabella Tamira Galdino FariasBackground: Metabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective of the present study was to determine the prevalence of cardiovascular autonomic neuropathy (CAN) in patients with CG...