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Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
Minor criteria: Autistic spectrum disorder.Colon cancer.Esophageal glycogenic acanthosis.Lipomas (>3).Mental retardation.Renal cell cancer.Testicular lipomatosis.Thyroid cancer.Thyroid adenoma or goiter.Vascular abnormalities.
Hereditary Colorectal Cancer
Published in Peter Sagar, Andrew G. Hill, Charles H. Knowles, Stefan Post, Willem A. Bemelman, Patricia L. Roberts, Susan Galandiuk, John R.T. Monson, Michael R.B. Keighley, Norman S. Williams, Keighley & Williams’ Surgery of the Anus, Rectum and Colon, 2019
A set of diagnostic criteria is available on the National Comprehensive Cancer Network (NCCN) website.109,110 The colon and rectum of patients with CS is usually studded with polyps of varying histology. These include fibromas, lipomas, neuromas, ganglioneuromas, neurofibromas, adenomas, serrated polyps and juvenile-like hamartomas.111 The polyposis is usually attenuated and can often be controlled endoscopically, as long as the patients are compliant. Recently a study of 69 patients with CS described 64 with colorectal polyps. Twenty-four had upper gastrointestinal and colorectal polyps, and nine (13%) had colorectal cancer. All with cancer were younger than 50 years of age. The standardised incidence ratio for colorectal cancer was 224.1 (95% CI 109.3–411.3, p < 0.0001).111 Gastric and duodenal polyps are also common, including serrated (hyperplastic) polyps, hamartomas and adenomas. Glycogenic acanthosis is a distinctive sign of CS. It is obvious that patients with CS need close endoscopic surveillance of the upper and lower gastrointestinal tract with removal of all polyps >5 mm.
Effectiveness of esophagogastroduodenoscopy in changing treatment outcome in refractory gastro-esophageal reflux disease
Published in Scandinavian Journal of Gastroenterology, 2022
Ye Eun Kwak, Ahmed Saleh, Ahmed Abdelwahed, Mayra Sanchez, Amir Masoud
Among all the patients who underwent EGD for refractory GERD symptoms, most patients had completely normal endoscopic esophageal findings (150/301, 49.8%), or benign and/or incidental findings (101/301, 33.6%). Benign findings included hiatal hernia (73/301, 24.3%), grade A–B esophagitis (21/301, 7.0%), ulcer (1/301, 0.3%), erosion (9/301, 3.0%) and erythema (7/301, 2.3%). Incidental findings included Schatzki ring (8/301, 2.7%), glycogenic acanthosis (2/301, 0.7%) or biopsy-proven benign hyperkeratosis related polypoid lesions (3/301, 1.0%). Patients who had endoscopic findings suspicious for intestinal metaplasia were 16.3% (49/301) which included irregular z line (35/301, 11.6%) and salmon-colored mucosa (21/301, 7.0%). All the endoscopic findings were not significantly different between patients who were on PPI and who were not on PPI (p > .05) except that people on PPI had more small hiatal hernia compared to people who were not on PPI (23.3 vs 8.9%, p = .017, Table 2).