Journal ArticleDOI
Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy
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TLDR
Patients with CGL provided a unique opportunity to identify the various sites of localization of "mechanical" adipose tissue in the human body, and this study suggests that the genetic defect in CGL results in poor growth and development of metabolically active adiposed tissue, whereas mechanical adipose tissues is well preserved.Abstract:
Congenital generalized lipodystrophy (CGL) is a rare genetic disease with extreme paucity of fat from birth which is believed to be generalized, involving the whole body. Affected patients are characterized by severe insulin resistance. Sites of adipose tissue distribution in patients with CGL have not been studied systematically. Therefore, the fat distribution in three women (17-20 yr old) with CGL was investigated. Determination of body composition by underwater volume displacement suggested the complete absence of body fat (range, -3 to -7%; normal, 15-25%). Whole body magnetic resonance imaging, however, detected fat in particular anatomical sites, namely in orbits, palms and soles, and periarticular and epidural regions. Some fat was also localized in the tongue, breasts, vulva, and buccal area. Fat in other subcutaneous areas, intraabdominal and intrathoracic regions, and bone marrow was essentially absent. Thus, patients with CGL do not have a complete absence of body fat; of interest, fat is present in those sites where adipose tissue may be serving mainly a mechanical function. Patients with CGL, therefore, provided a unique opportunity to identify the various sites of localization of "mechanical" adipose tissue in the human body. Our study suggests that the genetic defect in CGL results in poor growth and development of metabolically active adipose tissue, whereas mechanical adipose tissue is well preserved.read more
Citations
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Journal ArticleDOI
Subcutaneous and visceral adipose tissue : Their relation to the metabolic syndrome
TL;DR: Methods for assessment of several phenotypes of human obesity, with special reference to abdominal fat content, have been evaluated and the endocrine regulation of abdominal visceral fat in comparison with the adipose tissue localized in other areas is presented.
Journal ArticleDOI
Leptin-replacement therapy for lipodystrophy.
Elif A. Oral,Vinaya Simha,Elaine Ruiz,Alexa Andewelt,Ahalya Premkumar,Peter G. Snell,Anthony J. Wagner,Alex M. DePaoli,Marc L. Reitman,Simeon I. Taylor,Phillip Gorden,Abhimanyu Garg +11 more
TL;DR: Leptin-replacement therapy improved glycemic control and decreased triglyceride levels in patients with lipodystrophy and leptin deficiency and was well tolerated.
Journal ArticleDOI
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy
Iichiro Shimomura,Robert E. Hammer,James A. Richardson,Shinji Ikemoto,Yuriy K. Bashmakov,Joseph L. Goldstein,Michael S. Brown +6 more
TL;DR: Transgenic mice that overexpress nSREBP-1c in adipose tissue under the control of the adipocyte-specific aP2 enhancer/promoter exhibit many of the features of congenital generalized lipodystrophy (CGL), an autosomal recessive disorder in humans.
Journal ArticleDOI
Acquired and Inherited Lipodystrophies
TL;DR: This review focuses on the clinical features, underlying pathogenetic mechanisms, and management of various types of acquired and inherited lipodystrophies.
Journal ArticleDOI
Measurement of intracellular triglyceride stores by 1H spectroscopy: Validation in vivo
Lidia S. Szczepaniak,Evelyn E. Babcock,Fritz Schick,Robert L. Dobbins,Abhimanyu Garg,Dennis K. Burns,J. Denis McGarry,Daniel T. Stein +7 more
TL;DR: This study demonstrates for the first time that noninvasive in vivo 1H MRS measurement of intracellular TG, including that within myocytes, is feasible at 1.5-T field strengths and is comparable in accuracy to biochemical measurement.
References
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Diagnosis of Bone and Joint Disorders, Volumes 1–6, 2nd Edn., D. Resnick, G. Niwayama (Eds.). W.B.Saunders, Philadelphia (1988)
Journal Article
Comparison of Metabolic Activities of Orbital Fat With Those of other Adipose Tissues
Journal ArticleDOI
Congenital Generalized Lipodystrophy Accompanied by Cystic Angiomatosis
TL;DR: In this paper, five siblings had congenital generalized lipodystrophy and systemic cystic angiomatosis, and a suggested mechanism of cause related to rapid mobilization of protein was suggested.
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