Results 51 to 60 of about 16,386 (158)

A qualitative assessment of patient journeys to a lipodystrophy diagnosis

Rare
Background: Lipodystrophy syndromes are a group of very rare disorders characterized by a deficiency of adipose tissue, that can present with a broad range of symptoms.
T. Kenny, S. Laird, S. Dunn, K. Iqbal
doaj   +1 more source

Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report

Journal of Medical Case Reports, 2008
Introduction Acquired partial lipodystrophy or Barraquer-Simons syndrome is a rare form of progressive lipodystrophy. The etiopathogenesis of adipose tissue atrophy in these patients is unknown.
Guallar Jordi P, Rojas-Garcia Ricardo, Garcia-Arumi Elena, Domingo Joan C, Gallardo Eduardo, Andreu Antoni L, Domingo Pere, Illa Isabel, Giralt Marta, Villarroya Francesc   +9 more
doaj   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

Deciphering the Presence of Active Interscapular Brown Adipose Tissue in Humans

Acta Physiologica, Volume 242, Issue 4, April 2026.
ABSTRACT Brown adipose tissue (BAT) is increasingly recognized as a metabolically active tissue in humans, although its physiological relevance remains incompletely understood. In rodents, BAT is well characterized, with interscapular BAT (iBAT) representing the main thermogenic depot.
Joaquin Sanchez‐Gomez, Samuel Ruiz‐Campos, Anabel Chica‐Perez, Andrés Baena‐Raya, Francisco M. Acosta, Christian Wolfrum, Patrick C. N. Rensen, Tania Romacho, Borja Martinez‐Tellez   +8 more
wiley   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Generalized Lipodystrophy [PDF]

Archives of Disease in Childhood, 1971
M, SEIP, O, TRYGSTAD
openaire   +5 more sources

Adverse Outcomes and Associated Factors Among Children and Youths With Diabetes Mellitus in East Africa: A Systematic Review and Meta‐Analysis

Journal of Advanced Nursing, Volume 82, Issue 4, Page 2659-2684, April 2026.
ABSTRACT Aim To identify adverse outcomes and factors associated with diabetes mellitus among children and youths in East Africa. Design This review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses guidelines.
Chalie Marew Tiruneh, Marilyn Cruickshank, Muhammad Chutiyami, Lin Perry   +3 more
wiley   +1 more source

Lipid Droplet‐Localized Spindle Apparatus Coiled‐Coil Protein 1 Regulates Lipid Droplet Distribution

Advanced Science, Volume 13, Issue 14, 9 March 2026.
SPDL1‐L, a long isoform of SPDL1, is identified as a bona fide lipid droplet‐associated protein that acts as a dynein adaptor to drive perinuclear clustering of lipid droplets. By linking lipid droplets to the microtubule network, SPDL1‐L extends the function of SPDL1 beyond mitosis and contributes to lipid droplet organization and nuclear remodeling ...
Honggang Su, Huimin Pan, Yaqiang Liu, Wei Wang, Yang Jiao, Yumo Hang, Xiahe Huang, Yong E. Zhang, Yuhang Chen, Mei Ding, Xun Huang   +10 more
wiley   +1 more source

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

Frontiers in Endocrinology, 2020
Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy, associated with the progressive development of metabolic complications. BSCL type 1 (BSCL1) is caused by mutations in AGPAT2, encoding 1-acylglycerol-3phosphate-O-
Giovanni Ceccarini, Silvia Magno, Caterina Pelosini, Caterina Pelosini, Federica Ferrari, Maria Rita Sessa, Gaia Scabia, Gaia Scabia, Margherita Maffei, Margherita Maffei, Isabelle Jéru, Isabelle Jéru, Olivier Lascols, Olivier Lascols, Corinne Vigouroux, Corinne Vigouroux, Corinne Vigouroux, Ferruccio Santini   +17 more
doaj   +1 more source

Causes of lipodystrophy

Journal of Education, Health and Sport, 2018
Lipodystrophy is one of the most common and the most undesirable female dermatological conditions. Both slim and overweight people can struggle with it. It is possible to fight cellulite with various physiotherapeutic techniques and methods.
Katarzyna Korabiusz, Agata Wawryków
doaj   +1 more source