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Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort
dc.contributor.authorAjluni, Nevin
dc.contributor.authorMeral, Rasimcan
dc.contributor.authorNeidert, Adam H.
dc.contributor.authorBrady, Graham F.
dc.contributor.authorBuras, Eric
dc.contributor.authorMcKenna, Barbara
dc.contributor.authorDiPaola, Frank
dc.contributor.authorChenevert, Thomas L.
dc.contributor.authorHorowitz, Jeffrey F.
dc.contributor.authorBuggs‐saxton, Colleen
dc.contributor.authorRupani, Amit R.
dc.contributor.authorThomas, Peedikayil E.
dc.contributor.authorTayeh, Marwan K.
dc.contributor.authorInnis, Jeffrey W.
dc.contributor.authorOmary, M. Bishr
dc.contributor.authorConjeevaram, Hari
dc.contributor.authorOral, Elif A.
dc.date.accessioned2017-04-14T15:09:21Z
dc.date.available2018-07-09T17:42:24Zen
dc.date.issued2017-05
dc.identifier.citationAjluni, Nevin; Meral, Rasimcan; Neidert, Adam H.; Brady, Graham F.; Buras, Eric; McKenna, Barbara; DiPaola, Frank; Chenevert, Thomas L.; Horowitz, Jeffrey F.; Buggs‐saxton, Colleen ; Rupani, Amit R.; Thomas, Peedikayil E.; Tayeh, Marwan K.; Innis, Jeffrey W.; Omary, M. Bishr; Conjeevaram, Hari; Oral, Elif A. (2017). "Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort." Clinical Endocrinology 86(5): 698-707.
dc.identifier.issn0300-0664
dc.identifier.issn1365-2265
dc.identifier.urihttps://hdl.handle.net/2027.42/136360
dc.publisherWiley Periodicals, Inc.
dc.titleSpectrum of disease associated with partial lipodystrophy: lessons from a trial cohort
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelInternal Medicine and Specialties
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/136360/1/cen13311.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/136360/2/cen13311_am.pdf
dc.identifier.doi10.1111/cen.13311
dc.identifier.sourceClinical Endocrinology
dc.identifier.citedreferenceMisra, A., Peethambaram, A. & Garg, A. ( 2004 ) Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore), 83, 18 â 34.
dc.identifier.citedreferenceSubramanyam, L., Simha, V. & Garg, A. ( 2010 ) Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety & cardiomyopathy due to aminoâ terminal heterozygous missense lamin A/C mutations. Clinical Genetics, 78, 66 â 73.
dc.identifier.citedreferenceKalil, K.A. & Fargalley, H.S. ( 2012 ) Hypoparathyroidism in an Egyptian child with Hutchinsonâ Gilford progeria syndrome: a case report. Journal of Medical Case Reports, 6, 17.
dc.identifier.citedreferenceRauner, M., Sipos, W., Goettsch, C. et al. ( 2009 ) Inhibition of lamin A/C attenuates osteoblast differentiation and enhances RANKLâ dependent osteoclastogenesis. Journal of Bone and Mineral Research, 24, 78 â 86.
dc.identifier.citedreferenceMory, P.B., Crispim, F., Freire, M.B. et al. ( 2012 ) Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. European Journal of Endocrinology, 167, 423 â 431.
dc.identifier.citedreferenceThong, K.M., Xu, Y., Cook, J. et al. ( 2013 ) Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. Nephron. Clinical practice 124, 31 â 37.
dc.identifier.citedreferenceKelly, T.L., Wilson, K.E. & Heymsfield, S.B. ( 2009 ) Dual energy Xâ Ray absorptiometry body composition reference values from NHANES. PLoS One, 4, e7038.
dc.identifier.citedreferenceFan, B., Shepherd, J.A., Levine, M.A. et al. ( 2014 ) National Health and Nutrition Examination Survey wholeâ body dualâ energy Xâ ray absorptiometry reference data for GE Lunar systems. Journal of clinical densitometry, 17, 344 â 377.
dc.identifier.citedreferenceMcDowell, M.A., Fryar, C.D. & Ogden, C.L. ( 2009 ) Anthropometric reference data for children and adults: united States, 1988â 1994. Vital Health Statistics 11, 249, 1 â 68.
dc.identifier.citedreferenceDikerâ Cohen, T., Cochran, E., Gorden, P. et al. ( 2015 ) Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. Journal of Clinical Endocrinology and Metabolism, 100, 1802 â 1810.
dc.identifier.citedreferenceAjluni, N., Dar, M., Xu, J. et al. ( 2016 ) Efficacy and safety of metreleptin in patients with partial lipodystrophy: lessons from an expanded access program. Journal of Diabetes & Metabolism, 7, 659.
dc.identifier.citedreferenceSzczepaniak, L.S., Nurenberg, P., Leonard, D. et al. ( 2005 ) Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population. American Journal of Physiology. Endocrinology and Metabolism, 288, E462 â E468.
dc.identifier.citedreferenceBashaw, E.D. ( 2016 ) A clinical pharmacologyâ regulatory perspective on the approval of drugs for rare diseases. Clinical Pharmacology and Therapeutics, 100, 327 â 329.
dc.identifier.citedreferenceJeru, I., Vatier, C., Araujoâ Vilar, D. et al. ( 2017 ) Gene, clinical utility card for: familial partial lipodystrophy. European Journal of Human Genetics, 25, e1 â e3.
dc.identifier.citedreferenceJeru, I., Vatier, C., Araujoâ Vilar, D. et al. ( 2016 ) Clinical utility gene card for: congenital generalized lipodystrophy. European Journal of Human Genetics, 24, e1 â e4.
dc.identifier.citedreferenceLotta, L.A., Gulati, P., Day, F.R. et al. ( 2017 ) Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. Nature Genetics, 49, 17 â 26.
dc.identifier.citedreferenceWeedon, M.N., Ellard, S., Prindle, M.J. et al. ( 2013 ) An inâ frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nature Genetics, 45, 947 â 950.
dc.identifier.citedreferenceBrown, R.J., Araujoâ Vilar, D., Cheung, P.T. et al. ( 2016 ) The diagnosis and management of lipodystrophy syndromes: a multiâ society practice guideline. Journal of Clinical Endocrinology and Metabolism, 101, 4500 â 4511.
dc.identifier.citedreferenceGuillinâ Amarelle, C., Sanchezâ Iglesias, S., Castroâ Pais, A. et al. ( 2016 ) Type 1 familial partial lipodystrophy: understanding the Kobberling syndrome. Endocrine, 54, 411 â 421.
dc.identifier.citedreferenceBeraldo, R.A., Vassimon, H.S., Aragon, D.C. et al. ( 2015 ) Proposed ratios and cutoffs for the assessment of lipodystrophy in HIVâ seropositive individuals. European Journal of Clinical Nutrition, 69, 274 â 278.
dc.identifier.citedreferenceVan Pelt, R.E., Evans, E.M., Schechtman, K.B. et al. ( 2002 ) Contributions of total and regional fat mass to risk for cardiovascular disease in older women. American Journal of Physiology. Endocrinology and Metabolism, 282, E1023 â E1028.
dc.identifier.citedreferenceVan Pelt, R.E., Jankowski, C.M., Gozansky, W.S. et al. ( 2005 ) Lowerâ body adiposity and metabolic protection in postmenopausal women. Journal of Clinical Endocrinology and Metabolism, 90, 4573 â 4578.
dc.identifier.citedreferenceHernandez, T.L., Bessesen, D.H., Coxâ York, K.A. et al. ( 2015 ) Femoral lipectomy increases postprandial lipemia in women. American Journal of Physiology. Endocrinology and Metabolism, 309, E63 â E71.
dc.identifier.citedreferencePortilloâ Sanchez, P., Bril, F., Maximos, M. et al. ( 2015 ) High prevalence of nonalcoholic fatty liver disease in patients with type 2 diabetes mellitus and normal plasma aminotransferase levels. Journal of Clinical Endocrinology and Metabolism, 100, 2231 â 2238.
dc.identifier.citedreferenceSimha, V., Subramanyam, L., Szczepaniak, L. et al. ( 2012 ) Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety. Journal of Clinical Endocrinology and Metabolism, 97, 785 â 792.
dc.identifier.citedreferenceIglay, K., Hannachi, H., Joseph Howie, P. et al. ( 2016 ) Prevalence and coâ prevalence of comorbidities among patients with type 2 diabetes mellitus. Current Medical Research and Opinion, 32, 1243 â 1252.
dc.identifier.citedreferenceAnderson, R.J., Freedland, K.E., Clouse, R.E. et al. ( 2001 ) The prevalence of comorbid depression in adults with diabetes: a metaâ analysis. Diabetes Care, 24, 1069 â 1078.
dc.identifier.citedreferenceGuenantin, A.C., Briand, N., Bidault, G. et al. ( 2014 ) Nuclear envelopeâ related lipodystrophies. Seminars in Cell & Developmental Biology, 29, 148 â 157.
dc.identifier.citedreferenceWeinreb, N.J., Cappellini, M.D., Cox, T.M. et al. ( 2010 ) A validated disease severity scoring system for adults with type 1 Gaucher disease. Genetics in Medicine, 12, 44 â 51.
dc.identifier.citedreferenceChan, J.L. & Oral, E.A. ( 2010 ) Clinical classification and treatment of congenital and acquired lipodystrophy. Endocrine Practice, 16, 310 â 323.
dc.identifier.citedreferenceGarg, A. ( 2011 ) Clinical review#: lipodystrophies: genetic and acquired body fat disorders. Journal of Clinical Endocrinology and Metabolism, 96, 3313 â 3325.
dc.identifier.citedreferenceHandelsman, Y., Oral, E.A., Bloomgarden, Z.T. et al. ( 2013 ) The clinical approach to the detection of lipodystrophy â an AACE consensus statement. Endocrine practice, 19, 107 â 116.
dc.identifier.citedreferenceVigouroux, C., Caronâ Debarle, M., Le Dour, C. et al. ( 2011 ) Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity. International Journal of Biochemistry & Cell Biology, 43, 862 â 876.
dc.identifier.citedreferenceFarhan, S.M., Robinson, J.F., McIntyre, A.D. et al. ( 2014 ) A novel LIPE nonsense mutation found using exome sequencing in siblings with lateâ onset familial partial lipodystrophy. Canadian Journal of Cardiology, 30, 1649 â 1654.
dc.identifier.citedreferenceGarg, A., Sankella, S., Xing, C. et al. ( 2016 ) Wholeâ exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. JCI Insight, 1, e86870.
dc.identifier.citedreferenceHaarbo, J., Gotfredsen, A., Hassager, C. et al. ( 1991 ) Validation of body composition by dual energy Xâ ray absorptiometry (DEXA). Clinical Physiology, 11, 331 â 341.
dc.identifier.citedreferenceKleiner, D.E., Brunt, E.M., Van Natta, M. et al. ( 2005 ) Design and validation of a histological scoring system for nonalcoholic fatty liver disease. Hepatology, 41, 1313 â 1321.
dc.identifier.citedreferenceSpeckman, R.A., Garg, A., Du, F. et al. ( 2000 ) Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular Câ terminal domain of lamin A/C. American Journal of Human Genetics, 66, 1192 â 1198.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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