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Several indices of fat and carbohydrate metabolism were examined in 9 patients with congenital generalized lipodystrophy and in 11 subjects with the hypermuscular form of the disease. The latent or manifest disorders of carbohydrate metabolism, hyperinsulinism, hypercholesterolemia,
Two patients with congenital generalized lipodystrophy have been studied at rest, and during and after long-term exercise at different carefully measured work loads. The two patients represented different stages of diabetes development. Both patients derived most of their energy used during muscular
To determine whether total energy expenditure (TEE) is increased in the human immunodeficiency virus (HIV) lipodystrophy syndrome, we compared energy expenditure (EE) and substrate oxidation rates in 12 HIV-infected men with lipodystrophy, 7 HIV-infected men without lipodystrophy, and 14 healthy
Three siblings with congenital lipodystrophy were studied extensively for endocrine abnormalities. A severe disturbance in carbohydrate metabolism was observed. Plasma concentrations of glucagon and insulin were markedly elevated both in the basal state and in response to provocative stimuli. In
In an attempt to differentiate the effect of fenfluramine hydrochloride from that of caloric restriction on carbohydrate tolerance in patients with lipodystrophy, parameters of carbohydrate homeostasis were studied in patients with lipodystrophy during periods of fenfluramine treatment and during
Carbohydrate-deficient glycoprotein (CDG) syndrome is a newly recognized hereditary disorder that presents with psychomotor retardation, cerebellar ataxia, peripheral sensorimotor neuropathy, and, variably, skeletal abnormalities, lipodystrophy, and retinitis pigmentosa. These abnormalities appear
Adipose tissue is now recognized as a highly active metabolic and endocrine organ secreting a range of bioactive peptides with both local and distant action, known as adipokines. Some of these factors are specific fat-related hormones that are involved in regulating energy homeostasis, carbohydrate
Partial lipodystrophy (PLD) is an infrequent condition characterized by symmetric loss of subcutaneous adipose tissue in the upper or lower part of the body, although occasionally it affects only the extremities. In all cases it appears along with acantosis nigricans (AN), insulin resistance and
This paper reports three cases of membranous lipodystrophy (Nasu-Hakola disease) in two families and studies the carbohydrate components of membranocystic lesions in all three cases, using twelve kinds of lectins labelled by horseradish peroxidase (HRP). Maclura pomifera agglutinin (MPA), which
The recent development of highly active antiretroviral therapy (HAART) has drastically improved the life expectancy of AIDS patients, by reducing infection-related mortality. However, the prolongation of the lives of HIV-1-infected patients and/or the long-term use of novel, potent antiviral agents
The recent development and clinical use of three different types of highly effective anti-HIV-1 drugs, including nucleotide and non-nucleotide reverse transcriptase inhibitors (NRTIs) and non-peptidic viral protease inhibitors (PIs) and their combinations, termed highly active antiretroviral therapy
Feeding mice the trans-10, cis-12 (t10c12) conjugated linoleic acid (CLA) isomer is associated with lipodystrophy, insulin resistance, hyperinsulinemia, and liver steatosis. It has been hypothesized that CLA-induced liver steatosis is the result of increased hepatic lipogenesis stimulated by high
BACKGROUND
Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this
BACKGROUND
HIV-1 protease inhibitors (PI) have been recently associated with a syndrome of anomalous body fat distribution or lipodystrophy (LD), which sometimes is associated to hyperglycemia. Many aspects of this syndrome remain obscure. The objective of the study is to describe the prevalence,