3 research outputs found
Delayed immune mediated adverse effects to hyaluronic acid fillers: report of five cases and review of the literature
Hyaluronic acid (HA) fillers in cosmetic medicine have been considered relatively safe, though fillers used in European countries and throughout the world are not necessarily approved by the Food and Drug Administration. As their use continues to expand worldwide, physicians in a wide range of medical specialties are authorized to perform HA injections, including general medicine practitioners and even dentists. An increasing number of reports have appeared regarding side effects to these products. It is now known that reactions to Hyaluronic acid are related not only to technical faults of the injections, but also to immune responses, including delayed hypersensitivity and granulomatous reactions. Herein, we describe five cases treated by a variety of treatment modalities, all with delayed reactions to different brands of hyaluronic acid fillers. As there is currently no standardization of treatment options of adverse effects, these cases accentuate the debate regarding the approach to the individual patient and the possible need for pre-testing in patients with an atopic tendency
Sequence variation in PPP1R13L results in a novel form of cardioâcutaneous syndrome
Dilated cardiomyopathy (DCM) is a lifeâthreatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4â30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. Patientsâ fibroblasts and PPP1R13Lâknocked down human fibroblasts presented higher expression levels of proâinflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13lâknocked down murine cardiomyocytes and hearts of Ppp1r13lâdeficient mice. The hypersensitivity to lipopolysaccharide was NFâÎșBâdependent, and its inducible binding activity to promoters of proâinflammatory cytokine genes was elevated in patientsâ fibroblasts. RNA sequencing of Ppp1r13lâknocked down murine cardiomyocytes and of hearts derived from different stages of DCM development in Ppp1r13lâdeficient mice revealed the crucial role of iASPP in dampening cardiac inflammatory response. Our results determined PPP1R13L as the gene underlying a novel autosomalârecessive cardioâcutaneous syndrome in humans and strongly suggest that the fatal DCM during infancy is a consequence of failure to regulate transcriptional pathways necessary for tuning cardiac threshold response to common inflammatory stressors