Publications by authors named "Susana Redecillas"

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.

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Background: 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.

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Background: 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.

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Article Synopsis
  • A novel surgical technique for duodenal lengthening was performed on three children with short bowel syndrome who had dilated duodenum, utilizing a modified procedure to avoid damage to nearby structures.
  • The procedure involved sequentially applying an endoscopic stapler to lengthen the duodenum, with no surgical complications reported, although one patient did experience transient D-lactic acidosis.
  • Post-surgery, two patients successfully reduced their dependency on parenteral nutrition, demonstrating that duodenal lengthening can enhance nutrient absorption in extreme cases of short bowel syndrome.
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Background: 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.

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Article Synopsis
  • Two identical twins developed several health issues between ages 5 and 10, like headaches and seizures.
  • Doctors found a problem in their genes that affects how glucose, a type of sugar, is transported in their bodies.
  • Putting the twins on a special high-fat diet helped them feel much better, showing that their condition might be linked to a rare syndrome called GLUT1 deficiency.
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