Publications by authors named "C Pelosini"
Article Synopsis
- Pregnancy adds complexity to managing lipodystrophy disorders, which have been underreported in terms of related comorbidities and risks for women.
- A case study highlights a successful pregnancy in a 28-year-old woman with acquired partial lipodystrophy, showing improved glucose control but also leading to preterm delivery and maternal cardiac issues.
- Research indicates that while many women with various lipodystrophy phenotypes have successful pregnancies, they face high risks, necessitating intensive, multidisciplinary care and further investigation into leptin levels during pregnancy.
Background And Objective: X-linked hypophosphatemic rickets (XLH) is due to loss-of-function mutations in the phosphate-regulating endopeptidase homologue on the X chromosome (PHEX) that lead to increased fibroblast growth factor 23 (FGF23) production. FGF23 excess causes renal phosphate wasting and insufficient 1,25-dihydroxyvitamin D (1,25(OH)D) synthesis with reduced intestinal phosphate absorption, ultimately resulting in chronic hypophosphatemia. Children with XLH show typical skeletal lesions of rickets, deformities of the lower limbs, stunted growth with disproportionate short stature, bone pain, and physical dysfunctions.
View Article and Find Full Text PDFLipodystrophies (LDs) are rare, complex disorders of the adipose tissue characterized by selective fat loss, altered adipokine profile and metabolic impairment. Sirtuins (SIRTs) are class III NAD-dependent histone deacetylases linked to fat metabolism. SIRT1 plays a critical role in metabolic health by deacetylating target proteins in tissue types including liver, muscle, and adipose.
View Article and Find Full Text PDFSerum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.
J Endocrinol Invest
August 2024
Article Synopsis
- The study aimed to differentiate lipodystrophy from other diseases with similar fat loss symptoms, particularly anorexia nervosa.
- Researchers measured leptin and high molecular weight adiponectin serum concentrations in various patient groups, including those with different types of lipodystrophy and anorexia nervosa.
- Results showed that HMW adiponectin levels were significantly lower in patients with lipodystrophy compared to those with anorexia, suggesting it can help in accurately diagnosing these conditions.
Article Synopsis
- Barraquer-Simons syndrome (BSS) is a rare acquired lipodystrophy leading to significant loss of upper body fat, particularly affecting the face and arms, with a possible autoimmune origin.
- This study evaluated clinical and immunological data from 26 BSS patients to refine diagnostic tools and identify potential triggers or genetic links.
- Key findings revealed most patients experienced fat loss in childhood, with a notable prevalence of autoimmune markers and metabolic conditions, suggesting BSS is commonly connected to other autoimmune diseases.