Guidelines for Hirschsprung’s Disease

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D Rossi et al. J Pediatr Gastroenterol Nutr. 2026;83:185–207. Open Access! Updated European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies guidelines for the management of rectosigmoid Hirschsprung’s disease 2025

These guidelines cover recommendations for diagnosis, pre- and postoperative care, poor functional outcomes, long-term follow-up, and Hirschsprung’s-associated enterocolitis.

Some specific recommendations:

Diagnosis:

Preoperative Care:

  • Routine screening for all patients with rectosigmoid Hirschsprung’s disease (HSCR))with ultrasound for congenital anomalies of kidney and urinary tract (CAKUT) and systematic assessment of nutritional status.

Operative Care:

Hirschsprung’s-Associated Enterocolitis:

  • Table 9 provides extensive advice for bowel management strategies/evaluation in children with fecal incontinence.
  • Table 11 discussed genetic testing, noting that RET gene should be considered. Genetic counseling is recommended in those patients with a family history of Hirschsprung’s disease.

My take: This article provides good advice for optimizing care for patients with Hirschsprung’s disease.

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Diagrams of 3 common pull-through operations for Hirschsprung disease.
From left to right: full-thickness rectosigmoid dissection (Swenson), a recto-rectal pouch procedure (Duhamel), and an endorectal dissection (Soave). JPGN 2023; 76(4):533-546.

Impact of 5‐Aminosalicylic Acid Discontinuation in Children with Ulcerative Colitis Receiving Biologic Therapy

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G D’Arcangelo et al. J Pediatr Gastroenterol Nutr 2026; 83: 96-107. Open Access! Impact of 5-Aminosalicylic acid discontinuation in children with ulcerative colitis on biologic therapy: A propensity score-matched study

Background: Several adult-based studies have found that discontinuing 5-ASA at the initiation of anti-TNF therapy is not associated with worse clinical outcomes. “Ungaro et al. analyzed data from over 3500 patients in the United States and Denmark and found no increased risk of adverse outcomes following mesalamine discontinuation after the initiation of anti-TNF therapy.18 Based on this evidence, the American Gastroenterological Association recommends discontinuing mesalamine in patients with moderate-to-severe UC who are starting biologics or small molecules and achieve remission.19 However, this recommendation is based on low-quality evidence, and pediatric guidelines do not offer a similar directive.2“

Methods: Retrospective, multicenter, case–control study which included 227 pediatric patients in the final analysis after matching (85 [37.5%] cases and 142 [62.5%] controls].

Key findings:

  • Children who discontinued 5-ASA were at higher risk of courses of steroids (Log-Rank p = 0.003) and hospitalization (p = 0.08). This finding persisted with multivariate Cox regression analysis.
  • “Fixed timepoint analyses showed a statistically significant increase in the odds of adverse outcomes at the 6-month follow-up (including hospitalizations and acute severe colitis), with no significant differences detected at 12, 18, or 24 months, and only a non-significant trend toward higher hospitalization risk over time.”

My take: This is an intriguing study with a small sample size of pediatric IBD patients. Given the findings in adults, it is customary to stop 5-ASA at the time of initiation of biologic therapy. However, this study indicates that pediatric patients—who often present with more extensive and severe disease—may have some benefit from overlapping these therapies, especially during the first six months. A prospective pediatric study would be helpful.

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Disclaimer: This blog, gutsandgrowth, assumes no responsibility for any use or operation of any method, product, instruction, concept or idea contained in the material herein or for any injury or damage to persons or property (whether products liability, negligence or otherwise) resulting from such use or operation. These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician. Because of rapid advances in the medical sciences, the gutsandgrowth blog cautions that independent verification should be made of diagnosis and drug dosages. The reader is solely responsible for the conduct of any suggested test or procedure. This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition

Elevated Amylase is Common in Pediatric Patients with Inflammatory Bowel Disease

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F Vázquez López et al. J Pediatr Gastroenterol Nutr. 2026;83:79–86. Hyperamylasaemia in paediatric inflammatory bowel disease: Aetiology, outcomes and genetic determinants

Methods: This was a retrospective study with 334 pediatric patients, followed for ≥2 years (study duration was 7 years). Elevated amylase was considered to be above the laboratory’s reference range (102 U/L).

Key findings:

  • Hyperamylasaemia was found in 62/334 patients (18.6%), with 29% of these presenting at diagnosis
  • Hyperamylasaemia resolved in 77% of patients; in the majority (85%), spontaneously and in the remainder after medication withdrawal
  • One patient developed acute pancreatitis and one had recurrent pancreatitis

My take: It is best to avoid routinely checking an amylase if pancreatitis is not suspected; it could lead to ‘a wild goose chase.’ Most cases of elevated amylase are benign and self-limiting.

Related blog posts:

A deer in the middle of the Chattahoochee at Island Ford

Sheila McBrayer: Swallow Dysfunction and Swallow Evaluation in Infants

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Recently, Sheila McBrayer SLP gave our group a terrific update on swallow dysfunction and swallow studies in infants. She is a nationally-certified speech-language pathologist with more than 20 years of experience at Children’s Healthcare of Atlanta. She has led initiatives in advanced swallowing assessment, worked to standardize instrumental swallowing assessments across the hospital campuses, and presented at regional and national conferences on NICU feeding topics. My notes below may contain errors in transcription and in omission. Along with my notes, I have included many of her slides.

Key points:

  • Video fluoroscopic swallow study )VFSS) is preferred nomenclature over modified barium swallow (MBS) or oral pharyngeal motility study (OPMS)
  • Study duration is important.  Watch swallow for 2:30 minutes if feasible (KE McGrattan, et al Ped Radiology 2020; 50: 199-206)
  • Clinical evaluation accurately identifies aspiration in 56.7% in one study (may be better in a lower risk population).  Thus, if concerned about aspiration, an objective study (e.g. VFSS) is needed
  • Analysis of sounds during feeding may provide insight into risk of aspiration
  • Ongoing efforts to standardize evaluation protocol.  BaByVFSSimP tool (for bottle feeding)
  • Common impairments: increased sucking prior to bolus movement, disorganized lingual motion, late/incomplete laryngeal closure, disorganized or decreased pharyngeal transport, esophageal retention, and suck-swallow ratio variability
  • If unilateral cord dysfunction, feed infant with position to allow the better functioning vocal cord to be lower
  • When to care about penetration: deeper (e.g. touching vocal folds) and more frequent penetration.  Deeper penetration should be considered as similar risk as aspiration on swallow study
  • Thickening feeds can be difficult

Related blog posts:

Disclaimer: This blog, gutsandgrowth, assumes no responsibility for any use or operation of any method, product, instruction, concept or idea contained in the material herein or for any injury or damage to persons or property (whether products liability, negligence or otherwise) resulting from such use or operation. These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician. Because of rapid advances in the medical sciences, the gutsandgrowth blog cautions that independent verification should be made of diagnosis and drug dosages. The reader is solely responsible for the conduct of any suggested test or procedure. This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition

“Businesses Race to Cash in on Peptide Craze”

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SA O’Brien. WSJ 6/23/26: Businesses Are Taking Risks to Cash In on the Peptide Gold Rush

An excerpt:

Doctors, telehealth companies, med spas and venture capitalists are racing to get in on the craze for injectable drugs…

Demand for restricted peptides has fueled an online gray market for injections promising youth, beauty and strength. American businesses are racing—and taking risks—to get in on the craze…

These drugs, which advocate a D.I.Y. approach to health and longevity, are largely unapproved by the Food and Drug Association, meaning they can’t be marketed or sold for human consumption in the U.S. But with the support of Health Secretary Robert F. Kennedy Jr., several popular peptides will soon be up for reclassification, paving the way for a multibillion-dollar wellness gold rush.

Telehealth companies are already building infrastructure for a future where compounding pharmacies can safely provide experimental peptides…

Some longevity doctors and medical clinics are selling peptides directly to patients, obtaining substances both domestically and from abroad. Alabama’s Board of Medical Examiners released a statement in May underscoring its stance against doctors “recommending, supplying, prescribing or administering these substances.”

Wilson Hunter, the board’s general counsel, said the statement was prompted by unapproved peptides popping up in audits and investigations, via consumer complaints and as physicians inquire about guidance. “We’re not anti-peptide, we’re just anti people hurting themselves because they’re getting products that aren’t vetted or verified,” Hunter said.

In late July, the FDA’s Pharmacy Compounding Advisory Committee is set to discuss whether to greenlight seven unapproved peptides… could represent a $2.2 billion telehealth market opportunity next year…

Bill Holtz, a life sciences and U.S. Food and Drug Administration regulatory and policy strategist at Foley & Lardner LLP, said the compounding pharmacies producing the previously restricted peptides are doing so without explicit permission from FDA…

My take: Some peptides, like insulin, can be life sustaining. However, peptides that are being marketed for skin care, muscle strength and wellness are unproven and carry potential risks. In addition, like many other poorly-regulated products, there may be issues with product quality and contaminants. Long-term effects and even proper dosing are unknown.

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Interplay of Genetics and Pediatric Pancreatitis

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M Abu-El-Haija et al. Clinical Gastroenterology and Hepatology, 2026. (Article in print). DOI: 10.1016/j.cgh.2026.06.004. Open Access! Pancreatitis Risk Genes Play a Major Role in Pediatric Pancreatitis: Insights From INSPPIRE

Methods: A cross-sectional study involving 944 pediatric ARP or CP subjects was conducted. CASR, CEL, CFTR, CLDN2, CPA1, CTRC, GGT1, PRSS1, PRSS2, PRSS3, SBDS, SLC26A9, SPINK1, and UBR1 were sequenced.

Key findings:

  • A total of 120 variants, including 79 never previously reported to be associated with pancreatitis.
  • 38 focused variants found in CFTR (10 variants), PRSS1 (6), CTRC (6), SPINK1 (5), PRSS3 (3), GGT1 (3), CASR (2), CPA1 (2), and PRSS2 (1).
  • Seventy-four percent of children with acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP) carried at least one genetic risk variant.
  • In CP, CTRC (p=0.012) and PRSS1 (p<0.001) variants were most common. The presence of any genetic risk variant was associated with faster disease progression from AP to CP compared to none (p=0.014).

My take: This study shows the essential role that genetic mutations have in increasing the risk of ARP or CP. It reinforces the need for genettic testing in children with more than one episode of acute pancreatitis.

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Endoscopic Ischemic Polypectomy for Polyposis Disorders

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S Kurasawa et al. JPGN Reports. 2026; DOI: 10.1002/jpr3.70188. Open Access! Endoscopic ischemic polypectomy for small intestinal polyps in a 7-year-old girl with juvenile polyposis syndrome

Background: “Funayama et al.4 described the technique of endoscopic ischemic polypectomy (EIP) in detail in both pediatric and adult patients with Peutz–Jeghers syndrome (PJS). Subsequently, EIP was reported to be a safe and effective treatment for 269 small intestinal polyps in 22 pediatric PJS cases.5” Here the authors describe the use of this technique for a child with juvenile polyposis syndrome (JPS).

Key findings:

  • During a two-hour double-balloon enteroscopy (DBE) for a 7 yo child, “17 pedunculated polyps, all with a visually assessed size range of 7–15 mm, EIP was performed using the “crossed-clip strangulation method,” in which the first hemostatic clip was deployed with the aid of a distal attachment and rotated 90°, followed by placement of a second clip crossing the first at a 90° angle (Figure 1)…Subsequently, anemia and hypoalbuminemia did not recur, and growth was satisfied.”

(A) Pedunculated polyp in the small intestine. (B) The first hemostatic clip was placed on the stalk of the polyp. (C) A second hemostatic clip was placed on the stalk of the polyp at a 90-degree angle to the first clip.

Discussion Points:

  • “EIP does not involve electrocautery, eliminating the risk of thermal injury and offering a safer alternative for small bowel lesions.”
  • “A limitation of EIP is the inability to retrieve resected polyps…It should only be used for lesions that appear clearly benign.”
  • There is a risk of detached polyps migrating into the lower gastrointestinal tract and inducing intussusception. This can be mitigated by managing distal small intestinal polyps first.

My take: EIP appears to be useful for inidividuals with numerous small intestinal polyps.

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Dupilumab for Eosinophilic Gastritis: DEGAS study

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N Gonsalves, E Dellon E, K Kliewer K et al. The Lancet Gastroenterology & Hepatology, 2026; DOI: 10.1016/S2468-1253(26)00116-0. Open Access! Dupilumab versus placebo in adults and adolescents with eosinophilic gastritis (DEGAS): a double-blind, placebo-controlled, phase 2, multicentre, randomised controlled trial

Methods: This was a phase 2b trial with a 12-week, double-blind, placebo-controlled period, followed by a 24-week open-label extension period. Patients aged 12–70 years from 11 hospitals in the USA with histologically active eosinophilic gastritis (≥30 eosinophils per high-power field [HPF] in at least five HPFs in the gastric antrum and/or body) and moderate-to-severe symptoms. Eligible patients were individually randomised (1:1) to parallel groups and received six injections over 12 weeks: subcutaneous dupilumab (n=21) (600 mg once followed by 300 mg every 2 weeks) or subcutaneous placebo (n=20).  The primary endpoint of relative change from baseline in mean gastric eosinophil count.

Key findings:

  • At week 12, the relative reduction in the primary endpoint was greater with dupilumab (estimated mean change –50%) than with placebo (–4%)
  • Reduction from baseline in EoG-REFS (Eosinophilic Gastritis Endoscopic Reference Score) at week 12 was greater with dupilumab (estimated mean change –3·47 points than with placebo (–0·06 points)

 

 

Discussion Points:

“Currently, there are no FDA-approved therapies for patients with eosinophilic gastritis…this first prospective trial of dupilumab for eosinophilic gastritis show a greater reduction in mean gastric eosinophil count from the five most eosinophil-dense HPFs (the primary endpoint) with dupilumab compared with placebo.”

My take: Dupilumab improved eosinophilic gastritis histology and endoscopic appearance. This study suggests that there may be overlapping pathophysiology between eosinophilic gastritis and eosinophilic esophagits as dupilumab appers to be effective in both disorders.

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How Effective is Ustekinumab Dose Intensification in Crohn’s Disease: REScUE Trial

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Methods: This was an investigator-initiated, multicenter, randomized, placebo-controlled trial conducted at 15 hospitals in Belgium. Eligible patients were adults (n=108) with CD treated with ustekinumab on maintenance dosing of 90 mg subcutaneous every 8 weeks and experiencing a secondary loss of response. Patients were randomized 1:1 to receiving a single intravenous reinduction with ustekinumab ≈6 mg/kg followed by either subcutaneous ustekinumab 90 mg every 4 weeks or every 8 weeks until week 48. 

Key findings:

  • Steroid-free clinical remission at week 48 was reached in 15% vs 19% of patients in the every 4 weeks vs the every 8 weeks group 

Discussion Points:

  • “Remarkably, the overall steroid-free clinical remission rates at week 48 were low in both arms: 15% and 19% for ustekinumab Q4W and Q8W, respectively. Most of the patients achieved clinical remission in the first 24 weeks after IV reinduction though, suggesting that the IV reinduction is the main driver of the effectiveness, rather than the subsequent SC dose intensification.”
  • “Our results are in contrast with several retrospective and observational nonrandomized and open-label cohort studies suggesting a clinical response rate after dose intensification up to 60% and clinical remission rates up to 50% after 1 year of treatment.4,13–17“

The associated editorial notes that the modest remission rate could be partly due to a more refractory patient poulation. “The cohort was indeed difficult to treat: median disease duration exceeded a decade, and more than 90% of patients had prior anti–tumor necrosis factor exposure.” Despite this caveat, “the trial avoids overestimating therapeutic success and aligns outcomes with contemporary treat-to-target principles.4 From this perspective, REScUE provides a realistic benchmark for what ustekinumab intensification can and cannot achieve in routine clinical practice.”

The editorial also notes that the “STARDUST trial [which] evaluated a treat-to-target, endoscopy-guided escalation algorithm vs standard of care in ustekinumab-treated CD and did not demonstrate a clear advantage for the intensive, endoscopy-driven strategy at 1 year.7“

My take (borrowed from editorial): “In carefully selected patients who previously responded well to ustekinumab, a short and closely monitored trial of IV reinduction may be considered. However, the threshold for switching to another advanced therapy should remain low if treatment targets are not achieved.”

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This year’s Peachtree Road Race. It didn’t look like I would be finishing first this year!