Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

OBJECTIVE: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. STUDY DESIGN: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. RESULTS: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

Inadequate Bowel Preparation in Pediatric Colonoscopy-Prospective Study of Potential Causes.

OBJECTIVES: Inadequate bowel preparation (IBP) for colonoscopy leads to missed diagnosis, longer anesthesia time, higher chance of complications and increased costs. Adult studies have demonstrated that patient characteristics such as male gender and obesity are associated with IBP. Little is known about factors affecting bowel preparation in children. Our aim was to determine factors associated with IBP in children. METHODS: We prospectively enrolled children undergoing outpatient colonoscopy. Quality of bowel preparation was assessed using Boston Bowel Preparation Scale (BBPS) score (range 0-9). Data collected included patient demographics, indication, and type of insurance. Patients were divided into two groups based on BBPS score-adequate (BBPS score > 5) and inadequate (BBPS score < 5) and groups were compared using Student t-test and chi-square test. Possible predictors were analyzed using multivariate logistic regression models. RESULTS: A total of 334 children were prospectively enrolled of whom 321 were studied further (age range 2-18 years; mean age 12.4 years; 60.4% female; 85.9% Caucasian). The mean BBPS score was 6.8 (standard deviation of ±2). IBP was reported in 12.8% (41/321). Multivariable logistic regression analysis did not show statistical differences between the groups in studied patient factors including age, gender, obesity, race, insurance type, and indication for colonoscopy. CONCLUSION: Contrary to several adult studies, the results of our prospective study did not show any relationship between examined patient factors and IBP in children. Interestingly, IBP was less prevalent in our pediatric study compared to published adult data (12.8% vs 20-40%).

American Neurogastroenterology and Motility Society Task Force Recommendations for Resumption of Motility Laboratory Operations During the COVID-19 Pandemic.

The American Neurogastroenterology and Motility Society Task Force recommends that gastrointestinal motility procedures should be performed in motility laboratories adhering to the strict recommendations and personal protective equipment (PPE) measures to protect patients, ancillary staff, and motility allied health professionals. When available and within constraints of institutional guidelines, it is preferable for patients scheduled for motility procedures to complete a coronavirus disease 2019 (COVID-19) test within 48 hours before their procedure, similar to the recommendations before endoscopy made by gastroenterology societies. COVID-19 test results must be documented before performing procedures. If procedures are to be performed without a COVID-19 test, full PPE use is recommended, along with all social distancing and infection control measures. Because patients with suspected motility disorders may require multiple procedures, sequential scheduling of procedures should be considered to minimize need for repeat COVID-19 testing. The strategies for and timing of procedure(s) should be adapted, taking into consideration local institutional standards, with the provision for screening without testing in low prevalence areas. If tested positive for COVID-19, subsequent negative testing may be required before scheduling a motility procedure (timing is variable). Specific recommendations for each motility procedure including triaging, indications, PPE use, and alternatives to motility procedures are detailed in the document. These recommendations may evolve as understanding of virus transmission and prevalence of COVID-19 infection in the community changes over the upcoming months.

Incidence of Low Seroimmunity to Hepatitis B Virus in Children With Inflammatory Bowel Disease.

OBJECTIVES: Patients with inflammatory bowel disease (IBD) often receive immunosuppressive therapy, which may make them vulnerable to infections such as hepatitis B. We hypothesized that hepatitis B virus titers are low in the vaccinated pediatric population with IBD. The aims of our study were to identify the incidence of lower titers of hepatitis B surface antibody (HBsAb) and determine which patient factors may be associated with lower HBsAb titers. METHODS: Patients with diagnosis of IBD, ages 5 to 18 years, were prospectively enrolled. Patients were confirmed to have had a full series of hepatitis B vaccination. Quantitative serum HBsAb titers were measured and logistic regression analysis with independent variables of age, sex, race, disease phenotype, surgery, medications and a dependent variable of adequate HBsAb titers (> 10 mIU/mL) was performed. RESULTS: Of the 116 patients enrolled, 57 were boys and 59 were girls. 75 patients had a diagnosis of Crohn disease; 32 had a diagnosis of ulcerative colitis; and 9 patients had been diagnosed as having indeterminate colitis. At the time of the study, 15 patients were taking corticosteroid, 66 on an immunomodulator, and 53 on a biologic. Sixty percent of patients in the 5- to 10-year age group had protective titers versus 22% to 27% in the older groups, P = 0.04. Only 28% of the 116 patients had HBsAb titers of >10m IU/mL. Twenty percent of the patients taking corticosteroids, 27% taking immunomodulators, and 24% taking biologics were found to be seroimmune. CONCLUSIONS: Nearly two-thirds of pediatric patients with IBD have low titers against hepatitis B virus. Titers were highest in the younger patients. No patient-specific variable, such as the use of immunosuppressants, appeared to influence these low titers.

Effect of Octreotide on Colonic Motility in Pediatric Patients With Chronic Recalcitrant Constipation.

OBJECTIVE: The aim of the present study was to study the effect of octreotide on colonic motility in pediatric patients with recalcitrant chronic constipation/encopresis and other suspected colonic motility disorders. METHODS: This was a nonrandomized, single-center, open-label, prospective study evaluating the effect of a single subcutaneous dose of octreotide on colonic motility. RESULTS: Thirteen patients (5 boys) were enrolled in the study. The age range was 4.6 to 16.2 years. Eleven patients (84%) had normal colonic manometry and 2 patients (16%) had colonic neuropathy. Motility Index (MI) (mmHg) for the 15 minutes before and after octreotide infusion was 6.03 ±â€Š1.26 (95% confidence interval [CI] 5.35-6.72) and 5.32 ±â€Š1.66 (95% CI 4.42-6.23), respectively, with P value of 0.08. MI for the 30 minutes before and after octreotide infusion was 6.89 ±â€Š1.37 (95% CI 6.14-7.64) and 6.71 ±â€Š1.47 (95% CI 5.91-7.52), respectively, with P value of 0.55. MI for the 45 minutes before and after octreotide infusion was 7.73 ±â€Š1.32 (95% CI 7.01-8.45) and 7.53 ±â€Š1.38 (95% CI 6.78-8.28), respectively, with P value of 0.8. CONCLUSION: Our study showed that the administration of octreotide resulted in no significant changes in colonic MI in pediatric patients with chronic recalcitrant constipation.

Neuroenteric Staining as a Tool in the Evaluation of Pediatric Motility Disorders.

The diagnosis of enteric neuromuscular disorders has come a long way since the first description of an enteric neuropathic disorder by the Danish physician Harald Hirschsprung in 1886. Advances in specialized enteric histopathological staining techniques have made it possible to identify subtle neuropathies and myopathies that cause intestinal motility disorders, from the common and now better understood and relatively easily diagnosed Hirschsprung's disease to the less common and more severe and not well-characterized chronic idiopathic intestinal pseudoobstruction, which continues to present a diagnostic challenge to the gastroenterologist and histopathologist alike. This article will discuss the common gastrointestinal motility disorders and some of the specialized histological stains, such as the relatively common enzyme stain, acetylcholinesterase, used to diagnose Hirschsprung's disease; advanced tinctorial stains, such as Masson trichrome, which may aid in diagnosis of enteric myopathies causing pseudoobstruction; and immunohistochemical stains such as C-Kit or PG 9.5, which may aid in the diagnosis of enteric neuropathies causing pseudoobstruction.

Psychosocial factors impacting antegrade continence enema outcomes in pediatric patients.

BACKGROUND: Children with constipation and encopresis are often treated with medication and behavioral approaches. When constipation persists, surgical interventions such as antegrade continence enema (ACE) procedures are considered. Many children benefit from these procedures; however, some children continue to have incontinence, experience complications, or discontinue the use of the ACE stoma. There is some evidence in the literature to indicate that psychosocial factors can have an impact on ACE outcomes; however, standardized biopsychosocial guidelines related to ACE candidacy and surgery do not currently exist. PURPOSE: The purpose of this review is to summarize the research to date on psychosocial factors related to ACE treatment outcomes and complications. Identifying what is known and what limitations remain can support future research to inform development of guidelines for pre-procedure evaluations. Psychosocial pre-procedure evaluations could help to inform eligibility for the procedure as well as interventions to enhance outcomes for children at increased risk for poor outcomes or complications from ACE. Age, psychiatric symptoms, and adherence to the ACE flush regimen were some of the factors identified in the literature as impacting ACE outcomes; however, there is limited research in this area.

Effect of azithromycin on small bowel motility in patients with gastrointestinal dysmotility.

OBJECTIVE: To investigate the effect of azithromycin (AZI) on small bowel activity in patients with gastrointestinal dysmotility (GID). MATERIAL AND METHODS: Manometric data on a consecutive series of 21 patients was reviewed. Only those patients with gastroparesis and small bowel dysmotility as defined by antroduodenal manometric criteria were included. Pressure profiles were recorded in three stages: baseline period, fed state and postprandial after administration of erythromycin (ERY) and AZI. The measured parameters included the number and characteristics of activity fronts and migrating motor complexes (MMCs) including duration, amplitude and frequency of contractions. The data were analyzed using repeated measures analysis of variance for comparison of each medication. RESULTS: AZI induced more MMCs in the duodenum with origin of activity fronts in the antrum than did ERY (18 patients with AZI, 10 patients with ERY). No significant difference between AZI and ERY was seen with respect to the amplitude of MMCs or number of cycles per minute. The average duration of activity fronts was longer with AZI compared with ERY (AZI mean 18.5 min, ERY mean 9.7 min, p < 0.02). CONCLUSIONS: AZI induces activity fronts in the antrum followed by duodenal contractions more frequently than ERY in patients with GID. AZI potentially promises to be a prokinetic for treatment of small bowel dysmotility.

Spectrum of gastroparesis in children.

BACKGROUND: Gastroparesis (GP) is characterized by delayed gastric emptying in the absence of mechanical outlet obstruction. Symptoms may include nausea, vomiting, bloating, early satiety, abdominal pain, and weight loss. Delayed gastric emptying of a solid-phase meal assessed by radionuclear scintigraphy is the criterion standard for diagnosis. The prevalence of GP is difficult to estimate due to the lack of a validated, widely available diagnostic test that can be applied in primary care. The extent of this problem in children is unknown. METHODS: We studied a cohort of children with GP diagnosed by radionuclear scintigraphy to identify demographics, symptoms, comorbidities, treatment, and outcomes. A retrospective analysis of 239 patients between ages 0 and 21 years was performed. RESULTS: The mean age of presentation was 7.9 years, and boys and girls were almost equally affected, that is, 48.5% and 51.5%, respectively. Vomiting was the most frequent presenting symptom (68%), followed by abdominal pain (51%), nausea (28%), weight loss (27%), early satiety (25%), and bloating (7%). Almost 75% of patients responded to intravenous erythromycin administered provocatively during gastric scintigraphy. In a majority of the patients, no cause was identified, that is, idiopathic GP (70%), followed by drugs (18%) and postsurgical (12.5%) causes. Only 4% patients had diabetic GP, and our population was essentially narcotic naïve (2%). After an average of 24 months' follow-up, the most common complication was esophageal reflux (67%). Despite different therapeutic modalities, by the end of the follow-up period, a significant improvement in symptoms was reported by an average of 60%, regardless of sex, age, or degree of emptying delay. CONCLUSIONS: GP has a good prognosis in childhood despite different etiologies, symptom presentation, and therapy.

A comprehensive review of functional dyspepsia in pediatrics.

Functional gastrointestinal disorders have been known as a diagnosis of exclusion since the Rome Foundation first created these criteria in 1990. Since that time, a large amount of research and clinical data has better clarified the mechanisms and treatment options for these. Functional dyspepsia is caused by physiologic, genetic, environmental, and psychological factors, as well as various functional abnormalities, such as increased sensitivity to acid, increased sensitivity to duodenal lipids and low-grade inflammation. This disorder has significant symptom overlap between other functional disorders, such as irritable bowel syndrome and gastroparesis, but has differential criteria and two new subclasses: postprandial distress syndrome and epigastric pain syndrome. Diagnosis of functional dyspepsia should be based upon appropriate clinical evaluation in tandem with Rome IV criteria. In recent years, many treatment measures for functional dyspepsia have been studied, such as pharmacologic intervention, behavioral therapy, or alternative therapy, an example being hypnotherapy. These treatment measures have proven to be effective in symptom reduction in pediatrics. Though this disorder is functional, it has been shown to cause a significant impact on pediatric patients' quality of life continuing into adulthood.

Gastric Electrical Stimulation for Gastroparesis and Chronic Unexplained Nausea and Vomiting.

OPINION STATEMENT: Gastroparesis is a heterogeneous clinical syndrome. Some patients have debilitating vomiting, weight loss, and dehydration, while others have effortless regurgitation of undigested foods or postprandial distress suggestive of functional dyspepsia. Gastric electrical stimulation (GES) has been proposed as an effective treatment option for patients with gastroparesis refractory to medical therapy. Evidence suggests that the clinically available device, a low-energy high-frequency GES, activates the vagal afferent pathways to influence the central control mechanisms for nausea and vomiting. Myoelectrical effects of the stomach are also involved. The results of randomized controlled trials (RCTs) for adults with diabetic and idiopathic gastroparesis are conflicting. There are no RCTs in adults with chronic unexplained nausea and vomiting (CUNV) with normal gastric emptying or in children with gastroparesis. However, there is increasing evidence from large unblinded studies showing the long-term efficacy in selected adults with gastroparesis. Selection criteria should be based on three categories: (a) underlying etiology, (b) clinical presentation and predominant symptoms, and (c) potential risk for complication. Significant abdominal pain, daily opiate use, and idiopathic gastroparesis are identified as negative predictors of success. Temporary GES has been utilized to identify patients who may benefit from surgical GES, but this strategy has yet to be proven in controlled studies. Objectives for this review are to highlight the mechanisms of action for GES, to look at the evidence for clinical efficacy, and to select patients who are likely to benefit.

A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.

BACKGROUND: Alcohol dehydrogenases (ADHs) may be involved in the pathogenesis of neurodegenerative disorders because of their multiple roles in detoxification pathways and retinoic acid synthesis. In a previous study, significant association of an ADH class IV allele with Parkinson disease (PD) was found in a Swedish sample. PATIENTS: The previously associated single-nucleotide polymorphism plus 12 further polymorphisms in the ADH cluster on human chromosome 4q23 were screened for association in an extension of the original sample that now included 123 Swedish PD patients and 127 geographically matched control subjects. A rare nonsense single-nucleotide polymorphism in ADH1C (G78stop, rs283413) was identified in 3 of these patients but in no controls. To obtain sufficient power to detect a possible association of this rare variant with disease, we screened a large international sample of 1076 PD patients of European ancestry and 940 matched controls. RESULTS: The previously identified association with an ADH class IV allele remained significant (P<.02) in the extended Swedish study. Furthermore, in the international collaboration, the G78stop mutation in ADH1C was found in 22 (2.0%) of the PD patients but only in 6 controls (0.6%). This association was statistically significant (chi(2)(1) = 7.5; 2-sided P = .007; odds ratio, 3.25 [95% confidence interval, 1.31-8.05]). In addition, the G78stop mutation was identified in 4 (10.0%) of 40 Caucasian index cases with PD with mainly hereditary forms of the disorder. CONCLUSION: Findings presented herein provide further evidence for mutations in genes encoding ADHs as genetic risk factors for PD.

A novel colonoscopic approach for the management of a Malone antegrade continence enema channel, which cannot be catheterized in the immediate postoperative period: a case report.

Early Malone antegrade continence enema (MACE) complications are rare, but can be devastating, particularly if they involve loss of the channel. Management of these complications is not well described. We report on a patient who had her MACE channel successfully salvaged in the immediate postoperative period using a colonoscopic retrograde wire and catheter placement after failing antegrade percutaneous endoscopic management. To our knowledge, this is the first report of a novel, colonoscopic, minimally invasive technique of managing select MACE channels, which cannot be otherwise recatheterized. We also review the management of postoperative MACE complications.

Gastroparesis: current diagnostic challenges and management considerations.

Gastroparesis refers to abnormal gastric motility characterized by delayed gastric emptying in the absence of mechanical obstruction. The most common etiologies include diabetes, post-surgical and idiopathic. The most common symptoms are nausea, vomiting and epigastric pain. Gastroparesis is estimated to affect 4% of the population and symptomatology may range from little effect on daily activity to severe disability and frequent hospitalizations. The gold standard of diagnosis is solid meal gastric scintigraphy. Treatment is multimodal and includes dietary modification, prokinetic and anti-emetic medications, and surgical interventions. New advances in drug therapy, and gastric electrical stimulation techniques have been introduced and might provide new hope to patients with refractory gastroparesis. In this comprehensive review, we discuss gastroparesis with emphasis on the latest developments; from the perspective of the practicing clinician.