[Bolus obstruction within the esophagus - an analysis over 5 years]. / Bolusobstruktionen im Ösophagus ­ Eine Analyse über 5 Jahre.

BACKGROUND: The removal of bolus impaction within the esophagus is an indication for emergency endoscopy. The current guideline of the European Society of Gastrointestinal Endoscopy (ESGE) recommends gently pushing the bolus into the stomach. This view is discerned by many endoscopists because of the increased risk of complications. In addition, the use of an endoscopic cap for bolus removal is not mentioned. MATERIAL AND METHODS: In a retrospective analysis from 2017 to 2021 we investigated 66 adults and 11 children with acute bolus impaction within the esophagus. RESULTS: Eosinophilic esophagitis, reflux esophagitic /peptic stenosis and Schatzki Ring caused 57.6%, esophageal and bronchial carcinoma 18%, esophageal motility disorders 4.5%, Zenkers diverticulum 1.5% and radiation esophagitis 1.5% of the bolus obstructions. The reason remained unclear in 16.7% of the cases. The spectrum was comparable in children with additional 2 cases with esophageal atresia and stenosis. The reason was unclear in 2 cases. Removal of bolus impaction was successful in 92.4% in adults and 100% in children. Bolus obstruction in adults was successfully removed solely by endoscopic cap in 57.6% and 75% in children. Pushing the bolus into the stomach without disintegration was possible in only 9% of cases. CONCLUSION: Flexible endoscopy is an effective ermergency intervention for removal of bolus obstruction within the esophagus. Uncontrolled pushing the bolus into the stomach without view cannot be recommended. An endoscopic cap is a good extension for safe bolus removal.

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.

Ultra-rare genetic disorders can provide proof of concept for efficacy of targeted therapeutics and reveal pathogenic mechanisms relevant to more common conditions. Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A). Loss of PTEN and BMPR1A results in a much more severe phenotype than deletion of either gene alone, with infantile onset pan-enteric polyposis and a high mortality rate. No effective pharmacological therapy exists. A multi-center cohort analysis was performed to characterize phenotype and investigate the therapeutic effect of mammalian target of rapamycin (mTOR) inhibition (adverse events, disease progression, time to colectomy and mortality) in patients with JPI. Among 25 JPI patients identified (mean age of onset 13 months), seven received mTOR inhibitors (everolimus, n = 2; or sirolimus, n = 5). Treatment with an mTOR inhibitor reduced the risk of colectomy (hazard ratio = 0.27, 95% confidence interval = 0.07-0.954, P = 0.042) and resulted in significant improvements in the serum albumin level (mean increase = 16.3 g/l, P = 0.0003) and hemoglobin (mean increase = 2.68 g/dl, P = 0.0077). Long-term mTOR inhibitor treatment was well tolerated over an accumulated follow-up time of 29.8 patient years. No serious adverse events were reported. Early therapy with mTOR inhibitors offers effective, pathway-specific and personalized treatment for patients with JPI. Inhibition of the phosphoinositol-3-kinase-AKT-mTOR pathway mitigates the detrimental synergistic effects of combined PTEN-BMPR1A deletion. This is the first effective pharmacological treatment identified for a hamartomatous polyposis syndrome.

Tolerability of FODMAP - reduced diet in irritable bowel syndrome - efficacy, adherence, and body weight course.

BACKGROUND: FODMAP reduced diet (fermentable oligo-, di-, monosaccharide, and polyols) belongs to the established therapy strategies in irritable bowel syndrome (IBS). However, disadvantages of this diet are significant and may lead to weight loss and insufficient patient adherence. Reports from Germany are not available yet. MATERIAL AND METHODS: In a prospective study, 93 patients with IBS according to Rom III were investigated. Sixty-three patients were recruited for the study and received standardized investigation, informed consent, and structured dietary instructions about the FODMAP reduced diet. Patients complaints were documented by a validated questionnaire and a standardized Lickert scale before and 8 weeks after the start of the diet. Stool characteristics were documented by the Bristol stool form scale. RESULTS: Patients adherence was low because 30 patients (47 %) stopped the diet. Of the remaining 33 patients, 36 % (n = 12) developed significant weight loss during the FODMAP therapy. Patients completing the study reported significant global improvement of symptoms in 79 % of cases (abdominal pain 85 %, meteorism 79 %, flatulence 69 %, borbogymi 69 %, nausea 46 %, fatigue 69 %). In addition, the severity of symptoms was significantly reduced. Fourteen patients developed changes of their stool characteristics according to the Bristol stool form scale, 11 of whom improved diarrhea and 3 improved constipation. CONCLUSION: FODMAP reduced diet is an efficient therapy in IBS. However, adherence of the patients is poor and the therapy bears the risk of significant weight loss.

Eosinophilic esophagitis and achalasia - just a coincidence?

BACKGROUND: Eosinophilic esophagitis (EoE) is detected frequently in dysphagia and noncardiac chest pain. Management of patients with EoE may be complicated because EoE is associated frequently with esophageal motility disorders. We present the rare case of esophageal achalasia (EA) associated with eosinophilic infiltration and a literature review. MATERIAL AND METHODS: A patient with dysphagia and eosinophilic infiltration referred to our clinic underwent standardized diagnostic work-up including symptom questionnaire, esophagogastroduodenoscopy (EGD) with esophageal biopsies, barium swallow, high-resolution esophageal manometry, and combined intraluminal 24-hour pH-impedance testing (pH/MII). RESULTS: The patient had an Eckardt score of 8. EGD and mucosal biopsies showed typical EoE with > 15 eosinophil leucocytes per high-power field. Barium swallow revealed typical sign of achalasia. HREM indicated EA type 2 according to the Chicago classification. PH/MII was normal. Oral and systemic corticoid therapy were without effect. After successful treatment by pneumatic dilation of the cardia, symptoms relieved and eosinophilic infiltration returned to normal. CONCLUSION: The results suggest that the patient had primary EA associated with eosinophilic infiltration and that the combined occurrence of these rare diseases is not just a coincidence.