Results 21 to 30 of about 39,706 (298)

Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real‐life experience from a national reference network

Diabetes, obesity and metabolism, 2022
To describe baseline characteristics and follow‐up data in patients with lipodystrophy syndromes treated with metreleptin in a national reference network, in a real‐life setting.
H. Mosbah, M. Vantyghem, E. Nobécourt, F. Andreelli, F. Archambeaud, E. Bismuth, C. Briet, M. Cartigny, B. Chevalier, B. Donadille, A. Daguenel, M. Fichet, J. Gautier, S. Janmaat, I. Jéru, C. Legagneur, L. Leguier, J. Maître, E. Mongeois, C. Poitou, E. Renard, Y. Reznik, A. Spiteri, F. Travert, B. Vergès, J. Zammouri, C. Vigouroux, C. Vatier   +27 more
semanticscholar   +1 more source

Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy

Nature Communications, 2022
Little is known about how the observed fat-specific pattern of 3D-spatial genome organisation is established. Here we report that adipocyte-specific knockout of the gene encoding nuclear envelope transmembrane protein Tmem120a disrupts fat genome ...
Rafal Czapiewski, Dzmitry G. Batrakou, J. I. de las Heras, R. Carter, A. Sivakumar, M. Sliwinska, Charles R. Dixon, Shaun Webb, G. Lattanzi, N. Morton, E. C. Schirmer   +10 more
semanticscholar   +1 more source

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

Hepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir, Rui F. Simões, José Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jéru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip‐Buus, Vlad Ratziu, Jérémie Gautheron, Cecília M. P. Rodrigues   +16 more
wiley   +1 more source

Approach to the Patient with Lipodystrophy.

Journal of Clinical Endocrinology and Metabolism, 2022
Lipodystrophy constitutes a spectrum of diseases characterized by a generalized or partial absence of adipose tissue. Underscoring the role of healthy fat in maintenance of metabolic homeostasis, fat deficiency in lipodystrophy typically leads to ...
Lindsay T Fourman, S. Grinspoon
semanticscholar   +1 more source

Risk factors for diabetic foot ulcers in metreleptin naïve patients with lipodystrophy

Clinical Diabetes and Endocrinology, 2021
Aim Patients with lipodystrophy are at high risk for chronic complications of diabetes. Recently, we have reported 18 diabetic foot ulcer episodes in 9 subjects with lipodystrophy.
O Saydam, B Ozgen Saydam, SC Adiyaman, M Sonmez Ince, MA Eren, FE Keskin, H Bilen, M Dagdeviren, S Kaya, G Akinci, A Balci, C Altay, F Bayraktar, EA Oral, B Akinci   +14 more
doaj   +1 more source

Effects of Metreleptin on Patient Outcomes and Quality of Life in Generalized and Partial Lipodystrophy.

Journal of the Endocrine Society, 2021
Generalized and partial lipodystrophy are rare and complex diseases with progressive clinical and humanistic burdens stemming from selective absence of subcutaneous adipose tissue, which causes reduced energy storage capacity and a deficiency of ...
Keziah Cook, K. Adamski, A. Gomes, E. Tuttle, H. Kalden, E. Cochran, Rebecca J. Brown   +6 more
semanticscholar   +1 more source

Genetics of Lipodystrophy [PDF]

Endocrinology and Metabolism Clinics of North America, 2017
Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs.
Rebecca J. Brown, Marissa Lightbourne
openaire   +3 more sources

Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy

bioRxiv, 2021
Little is known about how the observed fat-specific pattern of 3D-spatial genome organisation is established. Here we report that adipocyte-specific knockout of the gene encoding nuclear envelope transmembrane protein Tmem120a disrupts fat genome ...
Rafal Czapiewski, Dzmitry G. Batrakou, J. I. de las Heras, R. Carter, A. Sivakumar, M. Sliwinska, Charles R. Dixon, Shaun Webb, G. Lattanzi, N. Morton, E. C. Schirmer   +10 more
semanticscholar   +1 more source

Cardiac phenotype in familial partial lipodystrophy

Clinical Endocrinology, 2021
LMNA variants have been previously associated with cardiac abnormalities independent of lipodystrophy. We aimed to assess cardiac impact of familial partial lipodystrophy (FPLD) to understand the role of laminopathy in cardiac manifestations.
Abdelwahab Jalal Eldin, B. Akıncı, Andre Monteiro da Rocha, Rasimcan Meral, Ilgin Yildirim Simsir, S. C. Adiyaman, E. Ozpelit, N. Bhave, R. Gen, B. Yurekli, N. Ozdemir Kutbay, Z. Şıklar, A. Neidert, Rita Hench, Marwan K Tayeh, J. Innis, J. Jalife, H. Oral, E. Oral   +18 more
semanticscholar   +1 more source

Familial Partial Lipodystrophy (FPLD): Recent Insights

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020
Lipodystrophies are a heterogeneous group of congenital or acquired disorders, characterized by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic variability with insulin resistance,
Christos Bagias, Angeliki Xiarchou, A. Bargiota, S. Tigas   +3 more
semanticscholar   +1 more source