title: Antioxidant effects of potassium ascorbate with ribose in costello syndrome.
abstract: BACKGROUND
  Costello syndrome is a rare genetic condition characterized by coarse facies, short stature, loose folds of skin especially on hands and feet, severe feeding difficulties and failure to thrive. Other features include cardiac anomalies, developmental disability and increased risk of neoplasms. Given the link between oxidative stress (OS) and carcinogenesis, we tested the hypothesis that OS occurs in this syndrome, supposing its role both in cancer development and in other clinical features.
  
  
  METHODS
  We describe four cases with Costello syndrome in which we verified the presence of OS by measuring a redox biomarker profile including total hydroperoxides, non-protein-bound iron, advanced oxidation protein products, thyols, carbonyl groups and isoprostanes. Thus, we introduced an antioxidant agent, namely potassium ascorbate with ribose (PAR) into the therapy and monitored the redox profile every three months to verify its efficacy.
  
  
  RESULTS
  A progressive decrease in OS biomarkers occurred, together with an improvement in the clinical features of the patients.
  
  
  CONCLUSIONS
  OS was proven in all four cases of Costello syndrome. The antioxidant therapy with PAR demonstrated positive effects. These promising results need further research to confirm the relevance of OS and the efficacy of PAR therapy in Costello syndrome.
authors: Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale Mario Bracci 36, 53100, Siena, Italy. giuseppe.buonocore@unisi.it
authors: Cecilia
authors: C
authors: Anichini
authors: Federica
authors: F
authors: Lotti
authors: Alice
authors: A
authors: Pietrini
authors: Caterina
authors: C
authors: Lo Rizzo
authors: Mariangela
authors: M
authors: Longini
authors: Fabrizio
authors: F
authors: Proietti
authors: Cosetta
authors: C
authors: Felici
authors: Giuseppe
authors: G
authors: Buonocore
mesh_terms: D000975:Antioxidants / Q000627:therapeutic use*; D001205:Ascorbic Acid / Q000627:therapeutic use*; D056685:Costello Syndrome / Q000188:drug therapy* / Q000378:metabolism / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010084:Oxidation-Reduction; D018384:Oxidative Stress; D012266:Ribose / Q000627:therapeutic use
chemical_list: D000975:Antioxidants; D012266:Ribose; D001205:Ascorbic Acid