Endoscopic incision for treatment of benign gastrointestinal strictures.

INTRODUCTION: Benign gastrointestinal strictures are common, and can be congenital or acquired (anastomotic, corrosive, induced by Crohn's disease or endoscopic treatments, etc.). Patients usually present with stricture-related symptoms such as vomiting, dysphagia, dyschezia, abdominal pain, which impair their quality of life. Endoscopic balloon dilation (EBD) is the first-line treatment for most of the benign strictures; however, long-term efficacy is suboptimal, and the recurrence rate can be up to 38%. Endoscopic incision (EI) was firstly reported for treatment of congenital membranous stricture, and then applied to other benign gastrointestinal strictures. AREA COVERED: In the present review, we provided a comprehensive review of EI for the treatment of benign gastrointestinal strictures, mainly focus on the technical details, indication, safety, and efficacy of EI. The present review is expected to provide tips for operators who are going to perform EI. EXPERT OPINION: EI can serve as an alternative method for treatment of gastrointestinal strictures, the best indications are congenital membranous stricture and short-segmental (<1 cm) anastomotic strictures refractory to EBD. EI may also be attempted for strictures induced by other reasons. Combination with other endoscopic methods such as EBD, local steroid injection, stent placement, may improve the efficacy of EI.

Neonatal Aerodigestive Disorders: Epidemiology and Economic Burden.

Aerodigestive disorders, those affecting the upper and lower airway or upper gastrointestinal tract, are interrelated anatomically during fetal development and functionally after birth. Successful respiration and feeding requires careful coordination to promote effective swallowing and prevent aspiration. I describe the epidemiology, including the prevalence of the most common aerodigestive disorders. The ability of an infant to feed by mouth at discharge, without a surgically placed feeding tube, is an important neurodevelopmental marker. Therefore, aerodigestive disorders have a high potential for lifelong morbidities and health care expenditures. When available, published research on related medical costs for these disorders is provided.

Gastrointestinal Endoscopy in the Neonate.

Gastrointestinal endoscopy permits direct observation of the alimentary tract, acquisition of mucosal tissue for histopathologic examination, and other diagnostic and therapeutic maneuvers. Endoscopes of appropriate size for many neonates and an expanding array of compatible tools and accessories have broadened what is possible, although few neonatal data exist to guide use. Evaluation and treatment of gastrointestinal bleeding, evaluation and dilation of fibromuscular congenital esophageal stenosis, and the bedside placement of gastrostomy tube have been described. Careful consideration of risks, benefits, and discussions between involved specialties permit patient-specific application of these tools and techniques to augment care of this vulnerable population.

Animal Models of Congenital Gastrointestinal Maladies.

The gastrointestinal (GI) tract consists of a remarkable series of organs that spatially and temporally coordinate the vital process of digestion to extract key nutrients required to sustain our day-to-day functions. During development, it undergoes complex and highly specialized morphogenetic events to form functionally distinct organs. Its failure to develop properly leads to serious congenital diseases, which if left untreated are particularly devastating and often result in premature death. These GI diseases have been estimated to impact approximately 8-16 of every 10,000 newborns [1, 2]. Importantly, the clinical manifestations of these diseases are severe, with untreated cases having high mortality rates. While some disorders, such as Hirschsprung's disease, can be treated effectively with surgery, the efficacy of this management strategy is far lower for other diseases, such as necrotizing enterocolitis. Moreover, children often face complications from these surgical procedures, leading to secondary ailments. Consequently, a better understanding of gastrointestinal development is fundamental to the treatment and prevention of congenital GI maladies. This chapter will explore some of the most prevalent and biologically complex congenital diseases of the GI system, with emphasis on animal models that both elucidate their underlying causes and lay the essential groundwork for the advancement of translational medicine.

Gut microbiota in neonates with congenital gastrointestinal surgical conditions: a prospective study.

BACKGROUND: There is limited information on gut microbiota of neonates with congenital gastrointestinal surgical conditions (CGISCs) available. METHODS: This study compared stool microbiota and short-chain fatty acids (SCFAs) of 37 term infants with CGISCs with 36 term healthy infants (HIs). Two stool samples were collected from each infant: as soon as possible after birth (week 1) and 10-14 days of life (week 2). RESULTS: Bacterial richness and alpha diversity were comparable between CGISCs and HIs at week 1 and week 2 (all p > 0.05). Beta diversity analysis revealed that at week 1, CGISCs had similar community structures to HIs (p = 0.415). However, by week 2, community structures of CGISCs were significantly different from HIs (p = 0.003). At week 1, there were no significant differences in the relative abundances of genera Bifidobacterium and Bacteroides between CGISCs and HIs. At week 2, the relative abundance of Bifidobacterium was significantly lower in CGISCs (mean percentage 7.21 ± 13.49 vs. 28.96 ± 19.6; p = 0.002). Bacteroides were also less abundant in the CGISC group (mean percentage 0.12 ± 0.49 vs. 6.59 ± 8.62; p = 0.039). Relative abundance of genera Pseudomonas and Escherichia-Shigella were higher in CGISCs. At week 2, stool concentrations of all SCFAs were lower in CGISCs (all p < 0.001). CONCLUSIONS: During hospitalization, neonates with CGISCs develop gut dysbiosis and deficiency of SCFAs. IMPACT: During hospitalisation, neonates with congenital gastrointestinal surgical conditions develop gut dysbiosis with deficiency of Bifidobacteria and Bacteroides and increased abundance of Escherichia-Shigella and Pseudomonas. They also have low levels of short chain fatty acids in their stools compared to healthy infants. This is the first study evaluating the gut microbiota using 16S ribosomal RNA sequencing methods and stool short chain fatty acids in neonates with congenital gastrointestinal surgical conditions and comparing them to healthy infants. The findings of this study will pave the way for randomised trials of bifidobacterial supplementation in neonates with congenital gastrointestinal surgical conditions.

Maternal preeclampsia and the risk of pediatric gastrointestinal diseases of the offspring: A population-based cohort study.

OBJECTIVE: We aimed to study the long-term effect of preeclampsia on the risk for subsequent gastrointestinal morbidity of the offspring. STUDY DESIGN: A population based cohort analysis comparing total and different subtypes of gastrointestinal related pediatric hospitalizations among offspring of preeclamptic mothers versus offspring of mothers without preeclampsia. The analysis included all singletons born between the years 1999-2014 at a single tertiary regional medical center. Gastrointestinal related morbidities included hospitalizations involving a set of ICD-9 codes, as recorded in hospital files. Infants with congenital malformations, multiple gestations, and perinatal deaths were excluded from the analysis. A Kaplan-Meier survival curve was used to compare the cumulative morbidity, and a Cox proportional hazards model was constructed to adjust for confounders. RESULTS: The study population included 239,687 newborns who met inclusion criteria; among them 2222 (0.93%) were born to mothers with severe preeclampsia or eclampsia, and 7279 (3.03%) were born to mothers with mild preeclampsia. Offspring of mothers with severe preeclampsia had significantly higher rates of gastrointestinal-related hospitalizations in comparison to offspring of mothers with mild preeclampsia and offspring of non-preeclamptic mothers (7.7% vs. 5.5% vs. 5.3%, respectively; p < 0.001). The association between exposure to severe preeclampsia and eclampsia and long-term gastrointestinal morbidity of the offspring remained significant and independent while adjusting for confounders (Adjusted HR = 1.2, 95% CI 1.0-1.4; p = 0.019). CONCLUSION: Severe preeclampsia and eclampsia are independent risk factors for pediatric gastrointestinal morbidity of the offspring.

Neonatal Gastrointestinal Emergencies: Step-by-Step Approach.

Neonatal gastrointestinal emergencies are caused by a diverse set of primarily congenital entities that may affect the upper or lower gastrointestinal tracts, and occasionally both. Although a diagnosis can sometimes be made on prenatal imaging, more commonly patients present after birth and require prompt diagnosis to facilitate timely treatment. Imaging plays a central role in the accurate diagnosis of these entities and typically consists of an initial abdominal series followed by either an upper gastrointestinal series or contrast enema. The authors review the most common neonatal gastrointestinal emergencies and provide a step-by-step approach to the accurate imaging diagnosis.

Relation of Right Atrial Volume, Systemic Venous Dimensions, and Flow Patterns to Right Atrial Pressure in Infants and Children.

Echocardiographic assessment of right atrial (RA) volume, inferior vena cava (IVC) diameter, and hepatic vein flow velocity independently correlate with the RA pressure by direct catheter measurement in adults. We prospectively collected invasive RA pressure measurements and echocardiographic data in infants and young children with the goal of developing a predictive model to noninvasively determine normal RA pressure. All subjects had a central venous catheter through which RA pressure could be transduced. Specific inclusion criteria consisted of (1) biventricular heart, (2) absence of inotropes, (3) sinus rhythm, and (4) at least 24 hours from surgery. Two-dimensional echocardiography (2DE)-Doppler and 3DE-Doppler were used to measure RA volume, systemic venous diameters, and flow velocity. Regression equations of RA pressure with RA volume, systemic venous size, and flow velocity were explored. Of 46 studies, 43 (93%) had echocardiograms adequate for analysis. RA pressure did not correlate with body surface area or age (p = 0.69, p = 0.87). The mean indexed RA volume by 3DE-Doppler was significantly higher than by 2DE (p <0.005). On multivariable analysis, only IVC systolic flow velocity and systolic 2D Simpson's derived indexed RA volume demonstrated significant independent correlation with RA pressure, resulting in the equation: RA pressure (mm Hg) = 7.35 - 0.0025 × IVC systolic flow velocity (cm/s) + 0.119 × indexed RA volume by systolic 2D Simpson's (ml/m2). RA pressure did not show correlation with systemic venous diameters or systolic and diastolic flow velocities in the SVC and hepatic veins. In conclusion, regression incorporating 2DE-derived RA volume and IVC systolic flow velocity provided the best noninvasive estimate of normal RA pressure in infants and children. The model derived requires validation in an independent sample.

[The complications of intestinal stoma in children]. / Oslozhneniia kishechnykh stom u detei.

AIM: To investigate the complications of intestinal stoma in children and to develop measures for decrease of their incidence. MATERIAL AND METHODS: The study included 152 children with congenital and acquired gastrointestinal pathology requiring surgical treatment with the imposition of intestinal stoma. Atresia of intestinal tube was observed in 28 (18.4%) children, meconium ileus - in 10 (6.6%) cases, Hirschsprung's disease - in 11 (7.2%)cases, anorectal malformations - in 39 (25.7%) cases, multiple malformations - in 11 (7.2%) patients, necrotic enterocolitis - in 56 (36.8%) patients, other reasons - in 7 (4.6%) cases. The average age of patients was 12,3±7,2 days. There were 93 (61.2%) boys and 59 (38.8%) girls. Ileostomy, ileocolostomy and colostomy were made in 37 (24.3%), 46 (30.3%) and 69 (45.4%) cases respectively. Time of intestinal stoma function was 18-217 days. RESULTS: Early complications were dehiscence in the area of stoma in 4 (2.6%) children, evagination in 7 (4.6%) patients, marginal necrosis of stoma in 2 (1.3%) cases, retraction of stomy into abdominal cavity in 1 (0.6%) child and abdominal skin maceration in 8 (5.2%) patients. Remote complications included dermatitis around stomy in 35 (23.1%) children, stenosis of stoma in 9 (5.9%) cases, evagination of stoma in 12 (7.9%) patients. Also, 5 patients were unable to use the colostomy bag due to vicious overlaying of intestinal stoma. Using the colostomy bags «Coloplast¼ and skin care products around the stoma significantly reduced (p<0.01) the number of complications at inpatient stage of treatment. CONCLUSION: Successful function of stoma depends on not only technical aspects but also obligatory care performance with timely correction of complications.

Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge.

Congenital diarrhoeal disorders are a heterogeneous group of inherited malabsorptive or secretory diseases typically appearing in the first weeks of life, which may be triggered by the introduction of distinct nutrients. However, they may also be unrecognised for a while and triggered by exogenous factors later on. In principle, they can be clinically classified as osmotic, secretory or inflammatory diarrhoea. In recent years the disease-causing molecular defects of these congenital disorders have been identified. According to the underlying pathophysiology they can be classified into four main groups: 1) Defects of digestion, absorption and transport of nutrients or electrolytes 2) Defects of absorptive enterocyte differentiation or polarisation 3) Defects of the enteroendocrine cells 4) Defects of the immune system affecting the intestine. Here, we describe the clinical presentation of congenital intestinal diarrhoeal diseases, the diagnostic work-up and specific treatment aspects.

[Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract]. / Prevalence vybraných vrozených vad v Ceské republice - vývojové vady centrálního nervového systému a zazívacího traktu.

OBJECTIVE: Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009. DESIGN: Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. MATERIAL AND METHODS: Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. The analysis was carried out for the entire Czech Republic, based on the data from 1994 to 2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres and laboratories in the Czech Republic. This study analyzed the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies. More detailed analysis was carried out for the following diagnoses: anencephaly, spina bifida, encephalocoele, congenital hydrocephalus, omphalocoele, gastroschisis, oesophageal atresia and stenosis, anorectal anomalies, and diaphragmatic hernia. Prevalence trends were analysed using Poisson regression. RESULTS: In 2009, a total of 118 348 live births were recorded in the Czech Republic, 60 368 boys and 57 980 girls. Of this total, 4 653, i.e. 2 745 boys and 1 908 girls, were diagnosed with congenital anomalies. In 2007-2009, the total of life births with congenital anomalies ranged between 4.6 and 4.8 thousand per year. The respective ranges in this three-year period were in the order of 2.7 and 2.8 thousand per year for boys and 1.9 thousand per year for girls. The prevalence of postnatally diagnosed anencephaly was minimal, as most cases were diagnosed prenatally, and the data did not vary significantly. The prevalence of postnatally diagnosed cases remained at the same level. The effectiveness of the prenatal diagnosis of spina bifida increased and thus the prevalence of postnatally diagnosed cases decreased. The prevalence of prenatally diagnosed encephalocoele increased and that of postnatally diagnosed cases varied between years, with no clear trend. The prevalence of omphalocoele varied for both prenatally and postnatally diagnosed cases; nevertheless, the effectiveness of prenatal diagnosis of this defect increases. The prevalence of gastroschisis remained unchanged, but the number of live births with this diagnosis showed a non-significant upward trend. If the trend reflects the real situation, it could be a result of a changed approach to prenatal diagnosis due to advances in corrective surgery of this defect. The prevalence of live births with congenital hydrocephalus showed a downward trend in the second half of the period 1994-2009 thanks to the improved diagnosis. The prevalence rates of live births with congenital esophageal and anorectal anomalies were slightly increasing. The prevalence of congenital diaphragmatic hernia varied between years but the overall prevalence appeared to be slightly increasing. CONCLUSION: The prevalence of some congenital anomalies (spina bifida, omphalocoele, and congenital hydrocephalus) showed a downward trend over the study period 1994-2009, mainly as a result of effective prenatal diagnosis. The prevalence of other congenital anomalies such as anencephaly or encephalocoele remained unchanged in live births. As for anencephaly, postnatally diagnosed cases were rare as the prenatal diagnosis was close to 100 %. The trend in encephalocoele is explained by the low incidence of this diagnosis in the population. The third group of postnatally diagnosed congenital anomalies such as gastroschisis or esophageal and anorectal anomalies were on the rise. As for gastroschisis, the reason was the changed approach to prenatal diagnosis due to good prognosis of this operable defect. The prevalence of congenital esophageal and anorectal anomalies varied between years, with a slowly increasing trend, similarly to diaphragmatic hernia.

Anti-TNF-α treatment for post-anastomotic ulcers and inflammatory bowel disease with Crohn's-like pathologic changes following intestinal surgery in pediatric patients.

PURPOSE: To report a previously poorly recognized process of secondary formation of inflammatory bowel disease (IBD)-like process, specifically Crohn's-like changes in pediatric surgery patients who underwent major small bowel and colorectal surgery. We describe potential etiologies, presenting symptoms and treatment approaches. METHODS: Retrospective chart review of patients with history of either chronic, partial gastrointestinal (GI) obstruction or Hirschsprung disease (HD) and subsequent histopathologic findings similar to IBD. Pathology and case histories were reviewed and treatments were compared. RESULTS: Over the last 20 years, a total of nine patients were identified that had the diagnoses of either HD (n = 3) or chronic GI partial obstruction (n = 6) with subsequent development of histopathologic changes similar to those seen in IBD. Overall meantime to diagnosis of IBD-like changes after intestinal resection was 7.70 ± 5.6 years. Half of the patients were also being managed for short bowel syndrome (SBS), and associated GI symptoms may have prolonged the time to identifying these IBD-like changes. When SBS patients were excluded, mean time to IBD changes after pull through for HD was 2.4 ± 0.24 years and after chronic GI partial obstruction was 6.3 ± 2.1 years. Two of the nine patients who underwent a resection of this IBD-like lesion developed a recurrence of this lesion. Anti-TNF-α treatment was used in three of the GI partial obstruction cases: two with complete relief and one with partial response that was supplemented with steroids. Two HD patients were treated with anti-TNF-α and both had marked improvement of symptoms. CONCLUSION: We describe IBD-like intestinal changes following intestinal resection in the pediatric age group. We also present the novel finding that these lesions are responsive to anti-IBD treatment, including anti-TNF-α, and recommend it as part of the medical treatment regiment offered for such patients.

Enteric duplication in children: A case series.

BACKGROUND: Enteric duplication (ED) cysts include a wide variety of cystic lesions, which can involve any part of the gastrointestinal tract (GIT). They can be referred to foregut, midgut, hindgut derived, depending upon the portion of GIT involved. The main purpose of this study was to document the variety of presentation, investigations, and treatment options employed. PATIENTS AND METHODS: This was a retrospective study at Paediatric Surgery Department of Services Hospital, Lahore from August, 2011 to August, 2013. The details of all the patients, including gender, and age, presenting complaint, abdominal examination findings, diagnostic modality, site, type, associated malformations, surgical option, and outcome were analysed. RESULTS: A total of eight patients with histopathological diagnosis of EDs managed were included in the study. Of these eight patients, six were males and two were females, with an average age of 2.4 years. The main diagnostic tool used was ultrasound in almost all patients. The most commonly involved site was ileum in 5 of 8 (62.5%) patients. Two cases had gastric involvement, while one patient had involvement of the descending colon. Six of eight were of tubular type (75%), while remaining 2 (25%) were of cystic type. Excision was possible in all these patients. CONCLUSION: ED can present with a wide spectrum of symptomatology. It can present as mass abdomen, intestinal obstruction or even can mimic as hydrocoele. High index of suspicion is therefore required. Ultimate aim of treatment is excision of cyst with preservation of vascularity of native gut.

A practical guide for the diagnosis of primary enteric nervous system disorders.

OBJECTIVE: Primary gastrointestinal neuropathies are a heterogeneous group of enteric nervous system (ENS) disorders that continue to cause difficulties in diagnosis and histological interpretation. Recently, an international working group published guidelines for histological techniques and reporting, along with a classification of gastrointestinal neuromuscular pathology. The aim of this article was to review and summarize the key issues for pediatric gastroenterologists on the diagnostic workup of congenital ENS disorders. In addition, we provide further commentary on the continuing controversies in the field. RESULTS: Although the diagnostic criteria for Hirschsprung disease are well established, those for other forms of dysganglionosis remain ill-defined. Appropriate tissue sampling, handling, and expert interpretation are crucial to maximize diagnostic accuracy and reduce interobserver variability. The absence of validated age-related normal values for neuronal density, along with the lack of correlation between clinical and histological findings, result in significant diagnostic uncertainties while diagnosing quantitative aberrations such as hypoganglionosis or ultrashort Hirschsprung disease. Intestinal neuronal dysplasia remains a histological description of unclear significance. CONCLUSIONS: The evaluation of cellular quantitative or qualitative abnormalities of the ENS for clinical diagnosis remains complex. Such analysis should be carried out in laboratories that have the necessary expertise and access to their own validated reference values.

Congenital heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995-2002.

BACKGROUND: Although the majority of congenital heart defects (CHDs) occur in isolation, a significant number occur with noncardiac anomalies. This study determined the proportion of noncardiac anomalies among CHD cases in Alberta. METHODS: Records of infants and children born in Alberta between January 1, 1995, to December 31, 2002, were searched using multiple sources of ascertainment in addition to the Alberta Congenital Anomalies Surveillance System (ACASS) (Alberta Health and Wellness, 2012). Each case was assigned to one CHD category and was further categorized into one of the following groups: isolated CHD, syndromes, chromosomal, associations and sequences, teratogens, Mendelian, neoplasia, heterotaxy, multiple minor anomalies, and multiple major anomalies. RESULTS: Of all 3751 CHD cases (prevalence 12.42/1000 total births: confidence interval, 12.03-12.83), 75% were isolated, 10% had a chromosomal etiology, and 9% had multiple major anomalies. All other categories accounted for <2% each. The most commonly associated major noncardiac anomalies were musculoskeletal (MSK) (24%) followed by anomalies of the urinary tract (14%), gastrointestinal system (GI) (11%), and central nervous system (CNS) (11%). CONCLUSIONS: This is both a population-based and clinical study using a classification scheme that could help to determine possible etiologic factors contributing to CHD. By eliminating known etiologies such as chromosomal and single gene, future studies can focus on the remainder to evaluate possible preventive measures. The most commonly associated major noncardiac anomalies involve the MSK system, followed by the urinary, GI, and CNS systems.

Neonatal and pediatric parenteral nutrition.

Parenteral nutrition is one of the most important therapeutic modalities invented in the last several decades. Since its introduction in the 1960s, this modality has saved thousands of lives by providing nutrients parenterally to sustain growth in premature neonates with severe intestinal immaturity and other pediatric patients with intestinal failure, such as a gastrointestinal fistula or short bowel syndrome. Although parenteral nutrition can be a lifesaving treatment, it is not benign. Many complications can result from either short- or long-term usage. This review discusses the nutritional requirements, common complications, medication additives, and special considerations for pediatric patients requiring parenteral nutrition.

Recent progress in congenital diarrheal disorders.

Congenital diarrheal disorders (CDD) are a group of rare enteropathies related to specific genetic defects. Infants with these disorders have chronic diarrhea, frequently requiring parenteral nutrition support. Etiologies and prognoses are variable. We propose a new classification of CDD into four groups, taking into account the specific etiology and genetic defect: 1) defects in digestion, absorption, and transport of nutrients and electrolytes; 2) disorders of enterocyte differentiation and polarization; 3) defects of enteroendocrine cell differentiation; and 4) dysregulation of the intestinal immune response. The present review focuses on the recent advances made in understanding the pathophysiology of CDD that could potentially improve the clinical approach to these conditions.

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.

Congenital diarrheal disorders (CDD, Online Mendelian Inheritance in Man [OMIM] 251850) represent one of the most challenging clinical conditions for pediatric gastroenterologists because of the severity of the clinical picture and the broad range of disorders in its differential diagnosis. The number of conditions included within CDD has gradually increased. Recent advances made in the pathophysiology of these conditions have led to a better understanding of the more common diarrheal diseases. Based on the body of data accumulated in recent years, we suggest that CDD be classified in 4 categories depending on the alteration in absorption and transport of nutrients and electrolytes, enterocyte differentiation and polarization, enteroendocrine cell differentiation, and modulation of the intestinal immune response. Our knowledge of the genes responsible for CDD is also rapidly increasing, thanks to linkage studies based on genome-wide analysis of polymorphisms. In this context, the identification of disease genes is a step forward in the diagnostic approach to a patient in whom CDD is strongly suspected. However, it is conceivable that faster, less expensive molecular procedures will, in the near future, become available. This approach could spare the patient invasive procedures and limit complications associated with a delay in diagnosis. Furthermore, carrier and prenatal molecular diagnosis may help pediatricians better manage the condition in the early stages of life.