Search results for "lipoatrophy"
showing 7 items of 7 documents
Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management
2015
SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not unive…
Upregulation of liver VLDL receptor and FAT/CD36 expressions in LDLR-/- apoB100/100 mice fed trans-10,cis-12 conjugated linoleic acid
2006
International audience; This study explores the mechanisms responsible for the fatty liver setup in mice fed trans-10,cis-12 conjugated linoleic acid (t10c12 CLA), hypothesizing that an induction of low density lipoprotein receptor (LDLR) expression is associated with lipid accumulation. To this end, the effects of t10c12 CLA treatment on lipid parameters, serum lipoproteins, and expression of liver lipid receptors were measured in LDLR(-/-) apoB(100/100) mice as a model of human familial hypercholesterolemia itself depleted of LDLR. Mice were fed t10c12 CLA over 2 or 4 weeks. We first observed that the treatment induced liver steatosis, even in the absence of LDLR. Mice treated for 2 weeks…
Hyaluronic acid-based two-stage medical therapy to unfold the aged face: The centrifugal approach
2020
Background: Facial aging is a multifactorial process characterized by structural changes to the dermis and ligaments, lipoatrophy in the fat pads and hypodermis, remodeling of the bony skeleton, change in muscle tonicity and tissue descent. Aims: The purpose of this study is to evaluate the efficacy of a hyaluronic acid-based treatment for the aging face that addresses all its causes in a caudal to cranial and medial to lateral direction: the centrifugal technique. Methods: Between March 2015 and January 2018, 187 patients were treated with a high G’ hyaluronic acid in two sessions, one/two weeks apart, to improve signs of facial aging, starting from the lower centrofacial area and progress…
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
2013
International audience; Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include insulin resistance and lack of subcutaneous fat. We ascertained two unrelated individuals with SHORT syndrome, hypothesized that the observed phenotype was most likely due to de novo mutations in the same gene, and performed whole-exome sequencing in the two probands and their unaffected parents. We then confirmed our initial observations in four other subjects with SHORT syndrome from three families, as well as 14 unrelated subjects presenting wi…
CLA, “new nutrients”?
2005
International audience; Conjugated linoleic acid (CLA) refers to a class of positional and geometric dienoic isomers of linoleic acid. Chronic dietary supplementation with commercial isomeric mixtures sold as dietary supplements leads to a drop in fat mass in various species. The t10,c12-CLA isomer is responsible for this antiobesity effect.The reduction of fat mass is especially dramatic in the mouse, in which it is associated with a severe hyperinsulinemia, an insulin resistance and a massive liver steatosis. The origin of these adverse side effects and the putative chronology of events leading to CLA-mediated lipoatrophic syndrome are presented and discussed in this review. In Human, the…
Efavirenz induces alterations in lipid metabolism through AMPK activation
2008
Summary of results EFV produced an immediate reduction of mitochondrialfunction, evident by the significant and dose-dependentinhibition of mitochondrial O2 consumption and thedecrease of intracellular ATP and Δψm. This metabolicstress promoted the activation of AMPK, triggering severalof its signalling pathways, as EFV induced an increment inCD36 mRNA expression and in intracellular lipid content,which could have been a result of the formation of lipiddroplets. This intracellular lipid increase was not presentin cells treated with Compound C, which points to a keyrole for AMPK in these mechanisms. Conclusion Given that EFV treatment is usually prolonged, thesemechanisms may effect the gene…
Multifocal disseminated lipoatrophy secondary to intravenous corticosteroid administration in a patient with adrenal insufficiency.
2002
Multifocal disseminated lesions of circumscribed lipoatrophy have not been described as an adverse reaction of intravenously applied drugs. A unique patient with adrenal insufficiency is reported who received corticosteroids intravenously and then had multiple lesions develop that were similar to focal lipoatrophy as known to occur secondary to faulty intradermal injections of corticosteroids.