Age-related changes in the myenteric plexus of the porcine bowel.

Introduction: Myenteric plexus (MP) is well recognized as an important regulator of peristaltic activity. Knowledge regarding prenatal and postnatal normal morphological changes is important when interpreting histopathologic findings in motility disorders of childhood. The aim of this study was to determine the neuronal density and morphology of the myenteric plexus (MP) of the porcine bowel from fetal life to adulthood.

Familial vesicoureteral reflux--is screening beneficial?

Purpose: The familial nature of vesicoureteral reflux is well recognized. Screening siblings for reflux is controversial. We identified a group of siblings of index patients with vesicoureteral reflux who are most likely to be affected.

Linkage analysis of candidate genes in families with vesicoureteral reflux.

Purpose: Vesicoureteral reflux familial clustering implies that genetic factors have a key role in reflux pathogenesis. We identified genes that cause this disease and elucidated the biology and genetics of vesicoureteral reflux.

Materials And Methods: There were 166 families and 738 individuals, including 319 parents and 419 offspring.

Sonic hedgehog gene expression in nitrofen induced hypoplastic lungs in mice.

Background: The pathogenesis of congenital diaphragmatic hernia (CDH) is unknown. The sonic hedgehog (Shh) cascade is crucial for the patterning of the early respiratory system in mice. Optical Projection Tomography (OPT) is a new tool for 3D imaging small biological specimens that enables us to visualise both the anatomy of developing organs and gene expression localised in the context of normal or abnormal anatomy.

Long-term outcome of internal sphincter myectomy in patients with internal anal sphincter achalasia.

Background: Internal anal sphincter achalasia (IASA) is a condition with presentation similar to Hirschsprung's disease (HD), but with the presence of ganglion cells on rectal suction biopsy (RSB). The diagnosis is made on anorectal manometry (ARM) by the absence of the rectosphincteric reflex on rectal balloon inflation. Internal sphincter myectomy (ISM) is the treatment of choice for patients with IASA.

Hypoganglionic colorectum in the chick embryo: a model of human hypoganglionosis.

Introduction: The enteric nervous system is an intrinsic network of nerve cells and glia within the gastrointestinal wall, which originates in the vagal and sacral neural tube. The vagal neural tube is known to supply the colorectum with the majority of its nerve cells, and its ablation during early development produces a hypoganglionic colorectum. We hypothesized that the cholinergic nerve activity in the chick embryo hypoganglionic colorectum is decreased similar to the human situation and, therefore, this study is designed to investigate cholinergic innervations in the chick embryo hypoganglionic colorectum.

A meta-analysis of clinical outcome in patients with total intestinal aganglionosis.

Total intestinal aganglionosis (TIA) is the most extreme and rare form of Hirschsprung disease (HD). Until few years ago TIA was considered to be a uniformly fatal condition. Survival has improved in the recent years with the advent of parenteral nutrition, innovative surgical techniques and small bowel transplantation.

The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.

The p.Gly691Ser variant of the RET protein, resulting from the 'A' allele of the SNP rs1799939 in exon 11 of the RET gene, was recently found to be present in a high proportion of primary vesicoureteric reflux (pVUR) patients in Quebec. We have determined the genotype of this SNP in 221 unrelated index cases of pVUR from the Irish population, in 190 full siblings of 160 of the index cases, and in 592 healthy controls.

Cholinergic innervation in the developing chick cloaca and colorectum.

Purpose: Acetylcholine is the major excitatory neurotransmitter involved in intestinal contraction and therefore plays a pivotal role in normal gastrointestinal motility. Acetylcholinesterase (AchE) is an enzyme involved in hydrolysing acetylcholine during its metabolism. The AchE histochemistry can therefore be used to label acetylcholine-positive nerve cells and fibres, giving an overview of cholinergic innervation in the gut.

Up-regulation of COUP-TFII gene expression in the nitrofen-induced hypoplastic lung.

Purpose: Recent studies have suggested that the retinoid signaling pathway (RSP) is inhibited in the nitrofen-induced hypoplastic lung. The exact mechanism by which nitrofen acts in the RSP remains unclear. Targeted ablation of COUP-TFII, a gene encoding a transfactor regulated by the RSP, has been shown to cause Bochdalek-type congenital diaphragmatic hernia.

New insights into the neuromuscular anatomy of the ileocecal valve.

The neuroanatomy of the ileocecal valve (ICV) is poorly understood. A better understanding of this important functional component of the gastrointestinal tract would enable surgeons to reconstruct an effective valve following surgical resection of the ICV. ICVs were examined in young pigs (N = 5) using frontal and transverse paraffin embedded and frozen sections.

Postnatal changes in enteric plexus axonal thickness.

Purpose: Chronological age has not always been an accurate predictor of gut motility in newborns. We hypothesized that the enteric plexus is immature at birth. We studied whole-mount preparations of the myenteric plexus in pigs from mid-point of gestation to adulthood.

Vagal neural crest provides inhibitory neurotransmission to the chick embryo cloaca.

Introduction: The intrinsic innervation of the developing chick cloaca originates in the vagal and sacral regions of the neural tube. Its major inhibitory neurotransmitters are nitric oxide (NO) and vasoactive intestinal peptide (VIP). It has previously been shown that the majority of neurons in the chick embryo cloaca are derived from vagal neural crest cells.

Structural basis of voiding dysfunction in megacystis microcolon intestinal hypoperistalsis syndrome.

Purpose: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital and usually fatal condition of unknown etiology. It is characterized by abdominal distension caused by a distended, non-obstructed urinary bladder and intestinal hypoperistalsis with functional intestinal obstruction. Previous studies reported vacuolar degenerative changes in the smooth muscle cells of bowel and bladder suggesting that MMIHS may be due to a visceral myopathy.

Long-term clinical outcome in patients with total colonic aganglionosis: a 31-year review.

Background: The purpose of this study is to review the long-term clinical outcome in patients surgically treated for total colonic aganglionosis (TCA).

Methods: The hospital records of 58 patients with TCA from 2 centers were retrospectively analyzed. These patients were then followed up by personal or telephonic interviews using a standardized questionnaire.

Deficient alpha-smooth muscle actin as a cause of functional intestinal obstruction in childhood.

Purpose: Most functional intestinal obstruction in childhood is due to defects in the enteric innervation. Functional intestinal obstruction due to smooth muscle disorders is rare. The aim of this study was to describe four patients with functional intestinal obstruction where the only histopathological abnormality was deficient, alpha-smooth muscle actin (alpha-SMA) in the circular muscle of their small bowel.

RET/GDNF signalling in vagal neural crest-derived neurons of the chick embryo cloaca.

Introduction: The growth factor, 'Glial cell line-Derived Neurotrophic Factor' (GDNF), is involved in the development of enteric ganglia, using the tyrosine kinase receptor 'REarranged during Transfection' (RET) to stimulate the proliferation and differentiation of neural crest-derived precursor cells. To date, the presence of these signalling molecules have not been studied in the developing cloaca, thus the aim of this study was to investigate the distribution of RET and GDNF, and analyse their co-localisation in vagal-derived neurons of the cloaca using quail-chick chimera embryos.

Materials And Methods: Chicken embryos were incubated until the 10-12 somite stage.

Renal parenchymal damage in intermediate and high grade infantile vesicoureteral reflux.

Purpose: The association of vesicoureteral reflux, urinary tract infection and renal scarring is well recognized. We evaluated the incidence of renal parenchymal scarring in a large series of infants with primary high grade vesicoureteral reflux.

Materials And Methods: The medical records of 549 consecutive infants with primary high grade vesicoureteral reflux between 1985 and 2006 were reviewed.

Correlation of enteric NADPH-d positive cell counts with the duration of incubation period in NADPH-d histochemistry.

Nicotinamide adenine dinucleotide phosphate-diaphorase (NADPH-d) staining can be used in the enteric nervous system to determine nitrergic neuronal counts, critical in motility disorders such as intestinal neuronal dysplasia and hypoganglionosis. The reported incubation periods of specimens with NADPH-d staining solution has varied from 2 to 24 h. The aim of this study is to investigate the impact of the incubation period on the overall NADPH-d positive cell counts in porcine rectal submucosal plexus.

Age-related changes in the neuromuscular development of the internal anal sphincter.

Purpose: The internal anal sphincter (IAS) plays an important role in the pathophysiology of constipation and incontinence. We hypothesized that functional bowel obstruction in premature infants is because of a poorly developed IAS. We investigated the neuromuscular development of IAS in fetal, newborn, and adolescent pigs.

[Long-term results of the endoscopic treatment of vesicoureteral reflux].

Objectives: To analize results and late complications in patients with vesicoureteral reflux, treated by endoscopic treatment and with several substances.

Methods: In a long bibliographic review we analize results, recurrences and late complications with this treatment using different substances.

Results/conclusions: In spite of the prescribed substance, VUR may recur several years after treatment.

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited form of gastrointestinal obstruction in infancy. The disease is considered a paradigm for the sex-modified model of multifactorial inheritance and affects males four times more frequently than females. However, extended pedigrees consistent with autosomal dominant inheritance have been documented.

Histochemical staining of rectal suction biopsies as the first investigation in patients with chronic constipation.

Rectal suction biopsy (RSB) is the gold standard diagnostic procedure for disorders of bowel motility. This study describes our experience with RSB stained with histochemistry as the first diagnostic approach in a large series of patients presenting with chronic constipation. Between 1993 and 2005, 766 children underwent RSB for persistent chronic constipation.