Background: The Serial Transverse Enteroplasty Procedure (STEP) Registry has reported a 47% success to achieve enteral autonomy in pediatric short bowel syndrome (SBS). We have performed the STEP with a technical modification (MSTEP) consisting in stapler application without mesenteric defects that can also be applied to the duodenum. Our experience with this technique is described.
View Article and Find Full Text PDFBackground: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene.
View Article and Find Full Text PDFBackground: We have recently demonstrated the feasibility of lengthening the duodenum in children with short bowel syndrome and a dilated duodenum. This procedure gains additional intestinal length in a challenging area of autologous gut reconstruction. Herein, we report the successful application of this technique in an adult with ultra-short bowel syndrome.
View Article and Find Full Text PDFBackground: Constipation is a common occurrence in formula-fed infants. The aim of this preliminary study was to evaluate the impact of a formula with high levels of lactose and magnesium, in compliance with the official regulations, on stool water content, as well as a parental assessment of constipation.
Materials And Methods: Thirty healthy term-born, formula-fed infants, aged 4-10 weeks, with functional constipation were included.