title: Beckwith-Wiedemann syndrome: potassium ascorbate with ribose therapy in a syndrome with high neoplastic risk.
abstract: BACKGROUND
  Beckwith-Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk of malignancy. We studied the oxidative stress (OS) pattern of our patients with BWS and administered, for the first time, potassium ascorbate with ribose (PAR) once a day as long-term therapy in order to correct the effects induced by free radicals.
  
  
  METHODS
  We describe the clinical features of three patients examined every three months in our clinic. OS was ascertained by measuring a panel of OS biomarkers: non-protein-binding iron, total hydroperoxides, advanced oxidation protein products, isoprostanes, carbonyl groups and thiols. After the presence of OS was established, treatment with PAR was started at the dosage of 300 mg of Potassium Bicarbonate and 150 mg of Ascorbic Acid in aqueous solution and changes occurring in OS biomarkers were followed dosing every three months.
  
  
  RESULTS
  Our patients showed higher levels of OS biomarkers than controls at the time of diagnosis. There was a reduction in OS biomarker values for all three patients with treatment. No primary or secondary neoplastic disease was observed in 9 months of follow-up.
  
  
  CONCLUSIONS
  This is the first report showing OS occurring in BWS. No drug until this report has been published showing efficacy against OS in any cancer. Given the limited number of patients, care must be taken to mitigate enthusiasm. We are collecting data for a large number of BWS patients to confirm these preliminary results.
authors: Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale Mario Bracci 36, 53100 Siena, Italy.
authors: Cecilia
authors: C
authors: Anichini
authors: Caterina
authors: C
authors: Lo Rizzo
authors: Mariangela
authors: M
authors: Longini
authors: Guido
authors: G
authors: Paoli
authors: Rosanna Maria
authors: RM
authors: di Bartolo
authors: Fabrizio
authors: F
authors: Proietti
authors: Giuseppe
authors: G
authors: Buonocore
mesh_terms: D000328:Adult; D001205:Ascorbic Acid / Q000627:therapeutic use*; D001506:Beckwith-Wiedemann Syndrome / Q000188:drug therapy*; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018384:Oxidative Stress; D017680:Potassium Compounds / Q000627:therapeutic use*; D011379:Prognosis; D012266:Ribose / Q000627:therapeutic use*; D012307:Risk Factors
chemical_list: D017680:Potassium Compounds; D012266:Ribose; D001205:Ascorbic Acid