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Results for “Lipodystrophy”

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PubMed1998

Cartilaginous membranocystic lesions mimicking membranous lipodystrophy of bone.

Two cases are presented in which membranocystic lesions were observed in the cartilaginous tissue of surgical specimens. In both cases, the histological and ultrastructural features were reviewed, and S-100 protein distribution was examined immunohistochemically in one case. In both cases, the membranocystic lesions were observed to be adjacent to ballooned chondrocytes. In one case, several chondrocytes showed partially membranocystic lesions in their cytoplasm. The chondrocytes and nuclei in membranocystic lesions were stained positively for S-100 protein. It is suggested that the membranocystic lesions in the cartilaginous tissue were associated with the degeneration of the chondrocytes.

Adolescent↗
PubMed2006

Glucose-stimulated prehepatic insulin secretion is associated with circulating alanine, triglyceride, glucagon, lactate and TNF-alpha in patients with HIV-lipodystrophy.

OBJECTIVES: We examined whether insulin-resistant lipodystrophic HIV-infected patients with known high fasting prehepatic insulin secretion rates (FISRs) displayed alterations in first-phase prehepatic insulin response to intravenous glucose (ISREG0-10 min). METHODS: Eighteen normoglycaemic lipodystrophic HIV-infected (LIPO) patients and 25 normoglycaemic nonlipodystrophic HIV-infected patients (controls) were included in the study. The prehepatic insulin secretion rate was estimated by deconvolution of C-peptide concentrations, and insulin sensitivity (SIRd) was estimated by the glucose clamp technique. The disposition index (Di=ISREG0-10 min x SIRd) was calculated to estimate the beta-cell response relative to insulin sensitivity. RESULTS: FISR was increased by 69% (P<0.001), whereas median Di was decreased by 75% (P<0.01), primarily as a result of a reduction of SI(Rd) by 60% (P<0.001) in LIPO patients compared with controls. Three LIPO groups were identified arbitrarily according to their FISR and ISREG0-10 min values relative to those of controls. Four LIPO patients displayed high FISR [+3 standard deviations (SD), P<0.001], high ISREG0-10 min (+3 SD, P<0.001) and low SIRd (P<0.01), suggesting an intact B-cell capacity to compensate insulin resistance; six LIPO patients exhibited high FISR (+3SD, P<0.001), low ISREG0-10min (-1 SD, P=0.01), and low SIRd (P<0.01), suggesting depletion of readily releasable insulin stores; the remaining eight LIPO patients and controls displayed identical FISR and ISREG0-10 min. Increased concentrations of the nonglucose insulin secretagogues triglyceride (+124%), alanine (+35%) and glucagon (+88%), and also lactate (+96%) and tumour necrosis factor (TNF)-alpha (+62%) were observed in the 10 LIPO patients with aberrations in FISR and ISREG0-10 min compared with the remaining HIV-infected patients (all P<0.05). CONCLUSION: Plasma triglyceride, alanine, glucagon, lactate and TNF-alpha may be associated with alterations in the first-phase prehepatic insulin secretion response to intravenous glucose in normoglycaemic lipodystrophic HIV-infected patients.

Adult↗
PubMed1996

Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group.

Five of the six families with the Berardinelli-Seip syndrome in Norway cluster in six adjacent rural municipalities of south-western Norway. The six patients from this area were born between 1951 and 1973, none between 1974 and 1995. The absence of new cases may be explained by a decrease in the intraregion marriage rate and inbreeding. Genealogical investigations show that the mutation must have occurred at least 400 years ago. The sixth family was clinically different and geographically sporadic from a Finnish-descent rural East Norwegian population. A genetic linkage study of all six families revealed fresh crossovers versus the disease allele in nine DNA marker systems and the absence of recombination in three (maximum lod score + 1.3). None of the last showed allelic association. These families are included in an international effort to map the CLBS locus. The patients have been included in the homozygosity testing of totally 28 patients in an international collaborative study. The three patients, assumed identical in descent from both parents, were jointly homozygous in none of the 250 dinucleotide markers tested. A heterochromatic 9qh + segregated from one parent in two families.

Alleles↗
PubMed1969

Total lipodystrophy.

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Age Determination by Skeleton↗
PubMed1976

The interrelationship between hypocomplementaemia, partial lipodystrophy and mesangiocapillary glomerulonephritis.

A further case of mesangiocapillary glomth reduced serum C3 levels is reported. The father of the patient was also found to have C3 deficiency. This lends support to the hypothesis that C3 deficiency may be the primary disorder relating these conditions and there is evidence in this case that the deficiency may be genetically determined. It is suggested that the complement state of close relatives, particularly younger siblings, of patients with these disorders should be investigated and, if abnormalities are found, they should be followed-up in order to elucidate the role of hypocomplementaemia in these uncommon disorders.

Blood Protein Disorders↗