Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

OBJECTIVE: A constitutional disease-causing variant (DCV) in the SMAD4 or BMPR1A genes is present in 40%-60% of patients with juvenile polyposis syndrome (JPS). The aim of this study was to characterize the clinical course and polyp burden in children with DCV-positive JPS compared to DCV-negative JPS. METHODS: Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight international centers in the ESPHGAN/NASPGHAN polyposis working group. RESULTS: A total of 124 children with JPS were included: 69 (56%) DCV-negative and 55 (44%) DCV-positive (53% SMAD4 and 47% BMPR1A) with a median (interquartile range) follow-up of 4 (2.8-6.4) years. DCV-positive children were diagnosed at an older age compared to DCV-negative children [12 (8-15.7) years vs. 5 (4-7) years, respectively, p < 0.001], had a higher frequency of family history of polyposis syndromes (50.9% vs. 1.4%, p < 0.001), experienced a greater frequency of extraintestinal manifestations (27.3% vs. 5.8%, p < 0.001), and underwent more gastrointestinal surgeries (16.4% vs. 1.4%, p = 0.002). The incidence rate ratio for the development of new colonic polyps was 6.15 (95% confidence interval 3.93-9.63, p < 0.001) in the DCV-positive group compared to the DCV-negative group, with an average of 12.2 versus 2 new polyps for every year of follow-up. There was no difference in the burden of polyps between patients with SMAD4 and BMPR1A mutations. CONCLUSIONS: This largest international cohort of pediatric JPS revealed that DCV-positive and DCV-negative children exhibit distinct clinical phenotype. These findings suggest a potential need of differentiated surveillance strategies based upon mutation status.

Characterizing Pediatric Familial Adenomatous Polyposis in Patients Undergoing Colectomy in the United States.

OBJECTIVE: To characterize a multi-institutional cohort of pediatric patients who underwent colectomy for familial adenomatous polyposis (FAP). STUDY DESIGN: In this retrospective cohort study, diagnosis and procedure codes were used to identify patients who underwent colectomy for FAP within the Pediatric Health Information System (PHIS). The inclusion criteria were validated at 3 children's hospitals and applied to PHIS to generate a cohort of patients with FAP between 2 and 21 years who had undergone colectomy between 2009 and 2019. Demographics, clinical and surgical characteristics, and endoscopic procedure trends as identified through PHIS are described. Descriptive and comparative statistics were used to analyze data. RESULTS: Within the PHIS, 428 pediatric patients with FAP who underwent colectomy were identified. Median age at colectomy was 14 years (range 2-21 years); 264 patients (62%) received an ileal pouch anal anastomosis and 13 (3%) underwent ileorectal anastomosis. Specific anastomotic surgical procedure codes were not reported for 151 patients (35%). Endoscopic assessment at the surgical institution occurred in 40% of the cohort before colectomy and in 22% of the cohort following colectomy. CONCLUSIONS: In this cohort, colectomy took place at an earlier age than suggested in published guidelines. Ileal pouch anal anastomosis is the predominant procedure for pediatric patients with FAP who underwent colectomy in US pediatric centers. Endoscopic assessment trends before and after surgery suggest that the surgical institution plays a limited role in the care of this population.

Case Report: Acute Abdominal Pain as Presentation of Pneumonia and Acute Pancreatitis in a Pediatric Patient With COVID-19.

Abdominal pain, nausea, and vomiting are known gastrointestinal symptoms of symptomatic SARS-CoV-2 infection (COVID-19 disease) in pediatric patients.1 There is little literature regarding pancreatitis in COVID-19. We describe a 16-year-old male diagnosed with acute pancreatitis in the setting of a SARS-COV-2 infection and associated fluid balance considerations.

Outcomes of minimally invasive myotomy for the treatment of achalasia in the elderly.

BACKGROUND: An increasing number of elderly patients diagnosed with achalasia are being referred for minimally invasive myotomy. Little data are available about the operative outcomes in this population. The objective of this study was to review our experience with this procedure in an elderly population. METHODS: A retrospective review was performed of 51 consecutive patients, 65 years of age or older, diagnosed with achalasia who underwent a minimally invasive myotomy at our institution. Prior therapies, perioperative outcomes, and postoperative interventions were also analyzed. RESULTS: Of the 51 patients, 28 (55%) had undergone prior endoscopic therapy, and 2 patients (7%) had a prior myotomy. Mean duration of symptoms was 10.9 years (range, 0.5 to 50). No perioperative mortality occurred, and the median hospital stay was 3 days. Two patients (3.8%) had complications, including a gastric mucosal injury and one atelectasia. Eleven patients (21%) required additional therapy postoperatively. Symptom improvement was described in all patients. CONCLUSION: Laparoscopic Heller myotomy can safely be performed in elderly patients, providing significant symptom relief. No evidence suggests that surgery should not be considered a first-line treatment. Advanced age does not appear to adversely affect outcomes of laparoscopic Heller myotomy.

Point-of-Care Gastric Ultrasound in a Pediatric Patient After Bowel Preparation: A Case Report.

Polyethylene glycol electrolyte solutions (PEG, NuLYTELY®) are widely used to prepare the GI tract before colonoscopy or barium enema examinations. Although PEG appears as a clear liquid, the optimal interval for sedation or general anesthesia after the last administration of these solutions is unclear and controversial in the anesthetic literature. We present a 3-year-old patient with intermittent bloody stools who required anesthetic care for esophagogastroduodenoscopy (EGD) and colonoscopy. Given the controversial nil per os time with the use of PEG-containing solutions, point-of-care gastric ultrasound was performed to evaluate gastric contents and gastric volume before the induction of anesthesia.

Does size matter? Technical considerations of a regenerative tissue matrix for use in reconstructive surgery.

INTRODUCTION: Acellular dermal matrices have been used with increasing frequency in both reconstructive and cosmetic surgery. While many studies have described the safety and morbidity profiles of these materials, little is known about the relative mechanical properties of individual sheets of allograft harvested from distinct donors. METHODS: Sixty-two individual sheets of an acellular dermal matrix from distinct lot numbers (signifying different donors of the dermis) were prospectively analyzed before use. Distribution of thickness according to manufacturer specifications in the dry state were as follows: 0.009 inches to 0.013 inches (1 [1.6%]); 0.79 mm to 1.78 mm (3 [4.8%]); 0.79 mm to 2.03 mm (5 [8%]); 0.8 mm to 3.3 mm (1 [1.6%]); 1.8 mm to 3.3 mm (10 [16.1%]) and 28 mm (6 [9.7%]). The size of the matrix was recorded while dry, after hydration and following stretch. The percentage change in surface area was recorded for each lot. RESULTS: The 62 reconstructive cases included breast implant reconstruction (2 [3.2%]); ventral hernia repair (11 [17.7%]); abdominal closure following autologous tissue harvest (6 [9.6%]); autologous breast reconstruction (37 [59.6%]); extremity wound closures (3 [4.8%]) and reinforcement of vertical rectus abdominis muscle closure (3 [4.8%]). The mean percentage change in the size of the acellular dermal matrix to the hydrated state was 58% (36 of 62; thickness 0.06 mm to 3.30 mm); the mean percentage change in size from dry state was 7.14% (range 0% to 18.7%). The mean percentage change in the size of the hydrated matrix to the stretched state was 25.7% (range 0.25% to 70.6%). The variability in elasticity among the individual sheets was significant (P<0.0005). CONCLUSION: The acellular dermal matrix displayed highly variable elastic properties among distinct donors. This may be significant in procedures in which symmetry is critical.