Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of ganglia in the intestine. HSCR etiology can be explained by a unique combination of genetic alterations: rare coding variants, predisposing haplotypes and Copy Number Variation (CNV). Approximately 18% of patients have additional anatomical malformations or neurological symptoms (HSCR-AAM).

Implementation of a Quality Control System for Laparoscopic Pyloromyotomy in Hypertrophic Pyloric Stenosis: Hurdles and Pitfalls.

Background:  In 2011, we implemented a new video-based system for quality control of laparoscopic pyloromyotomy. More than 3 years later, we evaluated how the implementation had gone and assessed its usability in predicting postoperative outcomes.

Materials And Methods:  Four key point images or short video-segments were to be recorded perioperatively: prepyloromyotomy, parallel-mobility testing, perforation testing, and postpyloromyotomy.

Taurolidine in Pediatric Home Parenteral Nutrition Patients.

To reduce the incidence of catheter-related bloodstream infections in home parenteral nutrition patients, the use of taurolidine was introduced in the Sophia Children's Hospital in 2011. This introduction led to a reduction in catheter-related bloodstream infections: 12.7/1000 catheter days before the use of taurolidine, compared with 4.

Effectiveness of Rectal Suction Biopsy in Diagnosing Hirschsprung Disease.

Introduction: Rectal suction biopsy (RSB) is performed on clinical and radiological suspicion of Hirschsprung disease (HD). Positive histochemical staining for acetylcholinesterase in the lamina propria mucosa and muscularis mucosa together with the absence of ganglion cells in the submucosa confirms HD. A second RSB or a full-thickness biopsy is done in case of doubt.

High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography.

Objective: To compare MRI and colostography/fistulography in neonates with anorectal malformations (ARM), using surgery as reference standard.

Methods: Thirty-three neonates (22 boys) with ARM were included. All patients underwent both preoperative high-resolution MRI (without sedation or contrast instillation) and colostography/fistulography.

To split or not to split: colostomy complications for anorectal malformations or hirschsprung disease: a single center experience and a systematic review of the literature.

Introduction: The aim of this article is to identify the ideal type and location of colostomy in children with colorectal disease.

Patients And Methods: A retrospective case study of children with an anorectal malformation who received a colostomy, born between January 1990 and July 2012. Furthermore, a systematic literature search on colostomies in neonates with an anorectal malformation or Hirschsprung disease.

Prospective long-term follow up of children with anorectal malformation: growth and development until 5years of age.

Background/purpose: To evaluate growth and development in children with anorectal malformations and to analyze effects of type of malformation and comorbidities.

Methods: Non-syndromal children with anorectal malformations were prospectively evaluated at 0.5, 1, 2, and 5 years.

Respiratory morbidity and growth after open thoracotomy or thoracoscopic repair of esophageal atresia.

Background: Respiratory morbidity has been described in patients who underwent repair of esophageal atresia as a neonate. We compared the influence of open thoracotomy or thoracoscopy on lung function, respiratory symptoms, and growth.

Methods: Functional residual capacity (FRC(p)), indicative of lung volume, and maximal expiratory flow at functional residual capacity (V'max(FRC)), indicative of airway patency, of 37 infants operated for esophageal atresia were measured with Masterscreen Babybody at 6 and 12 months.

Late vs early ostomy closure for necrotizing enterocolitis: analysis of adhesion formation, resource consumption, and costs.

Background: Surgeons prefer to close ostomies at least 6 weeks after the primary operation because of the anticipated postoperative abdominal adhesions. Limited data support this habit. Our aim was to evaluate adhesion formation-together with an analysis of resource consumption and costs-in patients with necrotizing enterocolitis who underwent early closure (EC), compared with a group of patients who underwent late closure (LC).