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2000 3
2001 2
2002 3
2003 2
2004 4
2005 4
2006 2
2007 4
2008 5
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75 results

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Page 1
Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain.
Fernández-Pombo A, Sánchez-Iglesias S, Castro-Pais AI, Ginzo-Villamayor MJ, Cobelo-Gómez S, Prado-Moraña T, Díaz-López EJ, Casanueva FF, Loidi L, Araújo-Vilar D. Fernández-Pombo A, et al. Front Endocrinol (Lausanne). 2023 Nov 16;14:1250203. doi: 10.3389/fendo.2023.1250203. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38034001 Free PMC article.
The rarity of lipodystrophies implies that they are not well-known, leading to delays in diagnosis/misdiagnosis. The aim of this study was to assess the natural course and comorbidities of generalised and partial lipodystrophy in Spain to contribute to their understanding. …
The rarity of lipodystrophies implies that they are not well-known, leading to delays in diagnosis/misdiagnosis. The aim of this study was t …
Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
Kountouri A, Korakas E, Maratou E, Ikonomidis I, Balampanis K, Liatis S, Tentolouris N, Toulas P, Kousathana F, Giatzakis C, Dimitriadis GD, Lambadiari V. Kountouri A, et al. Int J Mol Sci. 2023 Jul 27;24(15):12045. doi: 10.3390/ijms241512045. Int J Mol Sci. 2023. PMID: 37569420 Free PMC article.
More large-scale studies are necessary to clarify the genetic and allelic heterogeneity of the disease, along with other parameters which could predict treatment response....
More large-scale studies are necessary to clarify the genetic and allelic heterogeneity of the disease, along with other parameters which co …
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.
Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN. Laver TW, et al. J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662. J Clin Endocrinol Metab. 2018. PMID: 30020498 Free PMC article.
CONCLUSIONS: Our study suggests that heterozygous variants that are predicted to result in PLIN1 haploinsufficiency are not a cause of familial partial lipodystrophy and should not be reported as disease-causing variants by diagnostic genetic testing laboratories. ...
CONCLUSIONS: Our study suggests that heterozygous variants that are predicted to result in PLIN1 haploinsufficiency are not a cause o …
Insulin resistance in human partial lipodystrophy.
Hegele RA. Hegele RA. Curr Atheroscler Rep. 2000 Sep;2(5):397-404. doi: 10.1007/s11883-000-0078-0. Curr Atheroscler Rep. 2000. PMID: 11122771 Review.
Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease. Plasma leptin is also markedly reduced in subjects with FPLD …
Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and …
Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study.
Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, Curcio M, Sessa MR, López-Trascasa M, Araújo-Vilar D, Santini F. Magno S, et al. J Clin Endocrinol Metab. 2024 Feb 20;109(3):e932-e944. doi: 10.1210/clinem/dgad700. J Clin Endocrinol Metab. 2024. PMID: 38061004
Among various anthropometric measures, the ratio between the proportion of fat mass in upper limbs and lower limbs showed the best predictive value for diagnosis. A total of 11.5% of patients had diabetes, 34.6% dyslipidemia, and 26.9% hepatic steatosis. ...
Among various anthropometric measures, the ratio between the proportion of fat mass in upper limbs and lower limbs showed the best predic …
Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin.
Diker-Cohen T, Cochran E, Gorden P, Brown RJ. Diker-Cohen T, et al. J Clin Endocrinol Metab. 2015 May;100(5):1802-10. doi: 10.1210/jc.2014-4491. Epub 2015 Mar 3. J Clin Endocrinol Metab. 2015. PMID: 25734254 Free PMC article. Clinical Trial.
OBJECTIVE: The objective of the study was to test metreleptin's efficacy in PLD vs GLD and find predictors for treatment response. DESIGN: This was a prospective, single-arm, open-label study since 2000 with continuous enrollment. ...
OBJECTIVE: The objective of the study was to test metreleptin's efficacy in PLD vs GLD and find predictors for treatment response. DE …
Endogenous Leptin Concentrations Poorly Predict Metreleptin Response in Patients With Partial Lipodystrophy.
Meral R, Malandrino N, Walter M, Neidert AH, Muniyappa R, Oral EA, Brown RJ. Meral R, et al. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1739-e1751. doi: 10.1210/clinem/dgab760. J Clin Endocrinol Metab. 2022. PMID: 34677608 Free PMC article.
RESULTS: RDELISA measured 3.0 9.5 ng/mL higher than RIA; MELISA measured 11.0 17.8 and 14.0 19.2 less than RIA and RDELISA, respectively. Leptin by RIA, MELISA, and RDELISA modestly predicted metreleptin response in GLD + PLD [receiver operating characteristic (ROC) area u …
RESULTS: RDELISA measured 3.0 9.5 ng/mL higher than RIA; MELISA measured 11.0 17.8 and 14.0 19.2 less than RIA and RDELISA, respectively. Le …
Laminopathies: from the heart of the cell to the clinics.
Benedetti S, Merlini L. Benedetti S, et al. Curr Opin Neurol. 2004 Oct;17(5):553-60. doi: 10.1097/00019052-200410000-00005. Curr Opin Neurol. 2004. PMID: 15367859 Review.
The clinical heterogeneity of laminopathies ranges from intrafamilial variability to the description of overlapping phenotypes. A large variability in clinical presentation and the course of cardiomyopathy occurs, including sudden death despite pacemaker implant and emboli …
The clinical heterogeneity of laminopathies ranges from intrafamilial variability to the description of overlapping phenotypes. A large vari …
Effects of metreleptin in patients with lipodystrophy with and without baseline concomitant medication use.
Adamski K, Cook K, Gupta D, Morris E, Tuttle E, Carr E, Cremasco F, Cochran E, Brown RJ. Adamski K, et al. Curr Med Res Opin. 2021 Nov;37(11):1881-1889. doi: 10.1080/03007995.2021.1976125. Epub 2021 Sep 26. Curr Med Res Opin. 2021. PMID: 34490811
RESULTS: As previously reported, improvement in HbA1c and fasting TG from baseline to 12 months on metreleptin were observed in the overall population (mean change -1.57 percentage points and median change -37.9%, respectively) and subgroups. For both HbA1c and TG, baseline level …
RESULTS: As previously reported, improvement in HbA1c and fasting TG from baseline to 12 months on metreleptin were observed in the overall …
75 results