Accuracy of colonic mucosal patterns at contrast enema for diagnosis of Hirschsprung disease.

Background: Various patterns of colonic mucosal irregularity have been recorded on contrast enema, each with individually very low sensitivity, but high specificity.

Objective: To assess the accuracy of the radiologic features of Hirschsprung disease utilising a unifying stratification of any form of colonic mucosal irregularity on contrast enema.

Materials And Methods: We conducted a retrospective study of children with suspected Hirschsprung disease managed at a tertiary South African hospital from January 2009 through April 2015.

Genetic impact on the treatment & management of Hirschsprung disease.

Background: The identification of Hirschsprung's disease (HD) as a genetic condition has been a major step forward in understanding the development of the enteric nervous system and conditions arising from ganglion cell maldevelopment.

Method: A study of the role of genetics in HD was carried out based on previously published findings from more than 400 cases of HD.

Results: There are at least 7 pertinent clinical questions related to HD which were further investigated.

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

Background: Mowat Wilson syndrome (MWS) is an uncommon association of Hirschsprung's disease (HSCR). Phenotypic features may develop with time, causing initial difficulties in diagnosis. MWS results from haploinsufficiency of the Zinc finger E-box-binding homeobox 2 (ZEB2) gene, and molecular diagnosis of ZEB2 mutation is required to confirm the diagnosis.

Clinical and genetic correlations of familial Hirschsprung's disease.

Background: The risk of familial transmission in Hirschsprung's disease (HSCR) currently lacks correlation between the clinical phenotype and the underlying genetic factors. The aim of this study was to clinically evaluate familial HSCR transmission and to correlate with the genetic background.

Methods: Clinical and gene analysis of familial HSCR patients were explored.

Tissue specific somatic mutations and aganglionosis in Hirschsprung's disease.

Background: RET proto-oncogene intron 1 variations [e.g. SNP1 (rs2506004) and SNP2 (rs 2435357)] have been shown to be etiologically important in the pathogenesis of Hirschsprung's disease (HSCR).

Associations of anorectal malformations and related syndromes.

Anorectal malformations (ARMs) represent a complex group of congenital anomalies resulting from abnormal development of the hindgut, allantois and Mullerian duct resulting in complete or partial urorectal septal malformations. There is a wide variety of phenotypic expression, ranging from mild anorectal to very complex severe ARM with >75 % having other associated malformations. 50 % of cases are syndromic although many may have other associated anomalies.

Necrotizing enterocolitis and the placenta - a key etiological link.

Aim: Necrotizing enterocolitis (NEC) is the most common and severe acquired acute neonatal surgical condition, associated with premature neonates. Antenatal factors (e.g.

The Hirschsprung's-multiple endocrine neoplasia connection.

The risk of patients with Hirschsprung's disease later developing multiple endocrine neoplasia remains a matter of concern. The multiple endocrine neoplasia 2-Hirschsprung's disease association has been shown to cosegregate in Hirschsprung's disease patients with both short- and long-segment aganglionosis, although patients with long-segment aganglionosis a to carry the greatest risk. The Hirschsprung's disease-medullary thyroid carcinoma relationship also appears to be bi-directional, and activation or suppression of the rearranged during transfection gene appeared to vary over succeeding generations within the same family.

Hirschsprung's disease in the neurologically challenged child.

Background: The association between Hirschsprung's disease (HSCR) and central nervous system (CNS) anomalies and syndromes is interesting because of similar developmental pathways. In addition to associated syndromes (e.g.

Compound colonic intussusception: a reason for failure of pneumatic reduction.

Intussusception is the most common cause of bowel obstruction in infants older than 3 months. The authors report a case of idiopathic compound (ileocolic/colocolic) intussusception in a 5-month-old girl that was resistant to nonsurgical pneumatic (enema) reduction and necessitated open surgery. Compound intussusception is extremely rare but represents a form of intussusception that is likely to be aggravated by attempts at pneumatic reduction with obvious dangers for the unwary.

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.

Introduction: Hirschsprung disease (HSCR) is associated with the later development of multiple endocrine neoplasia (MEN2), because RET gene variations are associated with both conditions. Specifically, HSCR-MEN2 cosegregation mostly relates to the cysteine-rich area at the RET-620 (the "Janus gene").

Aim: The aim of this study was to explore the clinical and genetic associations of HSCR-MEN2 in a cohort of HSCR patients.

Total colonic aganglionosis and Hirschsprung's disease: shades of the same or different?

Total colonic aganglionosis is a relatively uncommon form of Hirschsprung's disease (HSCR) occurring in approximately 2-13% of cases. It can probably be divided into total colonic aganglionosis (TCA; defined as aganglionosis extending from the anus to at least the ileocaecal valve, but no more than 50 cm proximal to the ileocaecal valve) and total colonic and small bowel aganglionosis, which may involve a very long segment of aganglionosis. Clinically, they appear to represent a different spectrum of disease in terms of presentation and difficulties in diagnosis which may be experienced, suggesting a different pathophysiology from the more common forms of HSCR.

Developmental genes and cancer in children.

Childhood tumours are associated with congenital abnormalities suggesting that disruption of normal developmental processes may be linked with oncogenesis. Genetic and environmental exposures may combine to disrupt critical epigenetic processes during development, thus affecting gene-related signalling pathways and cellular function. This review examines the role of critical genes and processes regulating development such as the polycomb family and sonic hedgehog (SHH) as well as the Wnt signalling pathways and epigenetic variations (Snf5), methylation and loss of heterozygosity in controlling homeotic gene transcription and intracellular chromatin structure.

The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease.

Unlabelled: Hirschsprung's disease (HSCR)-associated enterocolitis (HAEC) remains a major contributor to morbidity and mortality associated with HSCR, being sometimes difficult to diagnose in its subclinical form. Its pathogenesis appears to include impaired local defense mechanisms as well as dysfunctional immune response and leukocyte function. In this context, the ITGB2 (CD18) immunomodulation-related gene is a possible candidate in HAEC pathogenesis as it codes for the beta-subunit of leukocyte adhesion molecule lymphocyte function-associated antigen 1, which has an established role in T-cell development and function.

Association of endothelin-beta receptor (EDNRB) gene variants in anorectal malformations.

Animal models have demonstrated the role of genetic influences in anorectal malformations (ARM), although the pathogenetic mechanism remains uncertain. A body of collateral evidence points to possible connection with the endothelin-beta receptor (EDNRB) gene and the endothelin system. This study investigates the EDNRB gene in patients with ARM.

Laparoscopic resection of esophageal stricture with transgastric stapled anastomosis in a child with AIDS.

A tight stricture in the lower esophageal stricture in a child poses significant surgical challenges. We report the first case of a laparoscopically assisted resection of a distal esophageal stricture in a 2-year-old girl with clinical AIDS (CDC stage 3). The patient presented with dysphagia, vomiting, and progressive weight loss.

Abnormal constitutional karyotypes in patients with neuroblastoma: a report of four new cases and review of 47 others in the literature.

Anomalies of constitutional karyotype, which have led to the discovery of oncogenes and tumor-suppressor genes in embryonal tumors such as retinoblastoma and Wilms tumor, have, until recently, rarely been reported until recently in neuroblastoma. We present four new cases of neuroblastoma associated with (a) a mosaicism for monosomy 22; (b) an 11q interstitial deletion; (c) a pericentric inversion of chromosome 9 at band 9p21; and (d) a Robertsonian translocation t(13;14). These anomalies and 47 others in the literature are worthy of interest, because some are recurrent, involving the same chromosome regions (1p36, 2p23, 3q, 11q23, and 15q), and some anomalies are situated on chromosome regions known to contain genes involved in neuroblastoma development (1p, 2p, 9p, 11q, 16q, and 17q).