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Gastrointestinal Polyposis Syndromes

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https://www.readbyqxmd.com/read/29202677/cronkhite-canada-syndrome-causing-pouch-outlet-obstruction-5-years-after-roux-en-y-gastric-bypass
#1
Ben Gys, Joren Mertens, Martin Ruppert, Guy Hubens
OBJECTIVE: We present the case of a 57-year-old man with a history of Roux-en-Y gastric bypass (RYGB) and colonic polyps who presented with an upper gastrointestinal obstruction based on massive stomach polyposis in the pouch. METHODS: Two months prior to this acute admission, he had undergone resection of the gastric remnant due to massive refractory intraluminal bleeding from a polypoid mass. Ten years earlier, right colectomy was performed due to hypertrophic polyposis unsuitable for endoscopic polypectomy...
December 5, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/29202476/stromal-lkb1-deficiency-leads-to-gastrointestinal-tumorigenesis-involving-the-il-11-jak-stat3-pathway
#2
Saara Ollila, Eva Domènech-Moreno, Kaisa Laajanen, Iris Pl Wong, Sushil Tripathi, Nalle Pentinmikko, Yajing Gao, Yan Yan, Elina H Niemelä, Timothy C Wang, Benoit Viollet, Gustavo Leone, Pekka Katajisto, Kari Vaahtomeri, Tomi P Mäkelä
Germline mutations in the gene encoding tumor suppressor kinase LKB1 lead to gastrointestinal tumorigenesis in Peutz-Jeghers syndrome (PJS) patients and mouse models; however, the cell types and signaling pathways underlying tumor formation are unknown. Here, we demonstrated that mesenchymal progenitor- or stromal fibroblast-specific deletion of Lkb1 results in fully penetrant polyposis in mice. Lineage tracing and immunohistochemical analyses revealed clonal expansion of Lkb1-deficient myofibroblast-like cell foci in the tumor stroma...
December 4, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29178089/-current-status-of-hereditary-gastrointestinal-neoplasms
#3
Yulong He
Gastric cancer and colorectal cancer are two common malignant tumors in digestive tract. 1% to 3% of gastric cancer and 5% to 15% of colorectal cancer are definitely hereditary cancer caused by germline gene mutation. Hereditary gastric cancer includes hereditary diffuse gastric cancer(HDGC) and hereditary intestinal gastric cancer (HIGC). CDH1 gene mutation is the main reason to cause HDGC, so the first degree and the second degree family members of HDGC patients are recommended to receive CDH1 mutation detection, endoscopic examination every year and undergo preventive total gastrectomy...
November 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/29168369/polyposis-deserves-a-perfect-physical-examination-for-final-diagnosis-bannayan-riley-ruvalcaba-syndrome
#4
Hayriye Hızarcıoğlu-Gülşen, Esra Kılıç, Elena Dominguez-Garrido, Yusuf Aydemir, Gülen Eda Utine, İnci Nur Saltık-Temizel
Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The mutation of the PTEN gene that is responsible for controlling cellular proliferation, migration and apoptosis clarifies the reason of tissue overgrowth in BRRS...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29156563/wnt-inhibitory-activity-of-malus-pumila-miller-cv-annurca-and-malus-domestica-cv-limoncella-apple-extracts-on-human-colon-rectal-cells-carrying-familial-adenomatous-polyposis-mutations
#5
Gennaro Riccio, Maria Maisto, Sara Bottone, Nadia Badolati, Giovanni Battista Rossi, Gian Carlo Tenore, Mariano Stornaiuolo, Ettore Novellino
Inhibitors of the Wingless-related Integration site (WNT)/β-catenin pathway have recently been under consideration as potential chemopreventive agents against Familial Adenomatous Polyposis (FAP). This autosomal-dominant syndrome is caused by germline mutations in the gene coding for the protein APC and leads to hyperactivation of the WNT/β-catenin signaling pathway, uncontrolled intestinal cell proliferation and formation of adenocarcinomas. The aim of the present work was to: (i) test, on in vitro cultures of cells carrying FAP mutations and on ex vivo biopsies of FAP patients, the WNT inhibitory activity of extracts from two common southern Italian apples, Malus pumila Miller cv...
November 18, 2017: Nutrients
https://www.readbyqxmd.com/read/29058694/nail-matrix-pathology-in-cronkhite-canada-syndrome-the-first-case-report
#6
Mati Chuamanochan, Napatra Tovanabutra, Pongsak Mahanupab, Sarawut Kongkarnka, Siri Chiewchanvit
Cronkhite-Canada Syndrome (CCS) presents with gastrointestinal polyposis and the triad of cutaneous abnormalities including nail dystrophy, alopecia, and hyperpigmentation of the skin. The etiology is not well understood. The histology of skin lesion in CCS has not been routinely described. Especially, the nail matrix pathology has not been reported. In this study, the authors report the nail matrix pathology in a patient with CCS. Interestingly, the histologic evaluation revealed matrix hypergranulosis. Because matrix hypergranulosis is commonly found in several inflammatory nail diseases, this discovery points out that an inflammatory process is probably one of the important pathogeneses in CCS...
November 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28930817/cronkhite-canada-syndrome-associated-with-colon-cancer-metastatic-to-liver-a-case-report
#7
Jing Wang, Lei Zhao, Nina Ma, Juanjuan Che, Huihui Li, Bangwei Cao
RATIONALE: Cronkhite-Canada Syndrome (CCS) is an idiopathic, nonhereditary syndrome haracterized by gastrointestinal (GI) polyposis and ectodermal changes including alopecia, onychatrophia, and pigmentation. CCS colon polyps were previously considered to be benign neoplasms. However, serrated adenoma was reported to be associated with malignant neoplasms in some cases of gastric and colorectal carcinomas, and esophageal cancers. Although malignant colon and gastric cancer have been reported in CCS, reports of distant metastasis have been rare in CCS...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#8
Christophe Rosty
Polyps of the gastrointestinal tract are very common lesions and most frequently sporadic in nature. Some polyp subtypes are associated with rare hereditary polyposis syndromes, including juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome. However, many sporadic benign lesions of the gastrointestinal tract can mimic some of these syndromic hamartomatous polyps. The role of the surgical pathologist is to raise the possibility of a hereditary condition in case of suggestive polyp histology and to look for clinical information to support the suspected diagnosis...
January 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28900777/an-exploration-of-genotype-phenotype-link-between-peutz-jeghers-syndrome-and-stk11-a-review
#9
REVIEW
Julian Daniell, John-Paul Plazzer, Anuradha Perera, Finlay Macrae
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome. Clinical features include hamartomatous polyps, mucocutaneous pigmentation and an increased predisposition towards developing malignancy. Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS. Peutz-Jeghers Syndrome is associated with increased rates of malignancy, particularly gastrointestinal. However, PJS is also associated with increased gynaecological, testicular and thyroid papillary malignancy...
September 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28842049/management-of-small-bowel-polyps-a-literature-review
#10
REVIEW
Rabia A de Latour, Saikiran M Kilaru, Seth A Gross
Despite the small bowel comprising 90% of the mucosal surface area of the gastrointestinal tract, it is a rare site for neoplasia and only accounts for a little over 3% of the tumors that arise in the digestive tract. Benign small bowel lesions include lipomas, lymphangiomas, leiomyomas, neurofibromas, nodular lymphoid hyperplasia and adenomas, many of which are precursors to malignant lesions. Several polyposis syndromes are associated with small bowel polyps as well, including familial adenomatous polyposis syndrome, lynch syndrome, Peutz-Jeghers syndrome, Cowden syndrome and juvenile polyposis syndrome...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28842047/evaluation-and-management-of-gastric-epithelial-polyps
#11
REVIEW
R Castro, P Pimentel-Nunes, M Dinis-Ribeiro
Gastric polyps include a wide spectrum of lesions with different histology and neoplastic potential. They are found in up to 6% of upper gastrointestinal endoscopy and are usually asymptomatic and incidentally diagnosed, being in the vast majority epithelial gastric polyps. Hyperplastic, fundic gland and adenomas are the most common types of gastric polyps and, although each type may have typical endoscopic appearances, they all must be sampled at the initial endoscopy for histological assessment. Also, the normal appearing gastric mucosa should be sampled to stage atrophic changes, rule out endoscopically non-visible dysplasia and to diagnose Helicobacter pylori...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28833703/nsaids-increase-the-risk-of-mucosal-injuries-but-not-of-overt-small-bowel-bleeding
#12
EDITORIAL
Gian Eugenio Tontini, Helmut Neumann
Since 2001, small bowel capsule endoscopy (SBCE) has been widely implemented into clinical practice as a minimal-invasive diagnostic approach for diagnosing small bowel diseases. Currently, SBCE is moreover recognized as the first-line procedure for the diagnostic work-up of obscure gastrointestinal bleeding (OGIB) and for a variety of SB disorders including Crohn's disease, inherited polyposis syndromes, suspected small bowel tumors or refractory celiac disease [1,2]. In addition, capsule endoscopy is used to guide the decision whether device assisted enteroscopy (i...
August 20, 2017: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
https://www.readbyqxmd.com/read/28725309/cronkhite-canada-syndrome-a-rare-cause-of-chronic-diarrhea
#13
Umair Iqbal, Ahmad Chaudhary, Muhammad Arsalan Karim, Hafsa Anwar, Nancy Merrell
Cronkhite-Canada syndrome (CCS) is a rare non-hereditary disease characterized by chronic diarrhea, diffuse intestinal polyposis and onychodystrophy. We present here a case of a middle-aged female who presented with chronic intermittent bloody diarrhea associated alopecia and loss of finger and toe nails. Labs were remarkable for microcytic anemia and severe hypoalbuminemia. Endoscopy showed numerous polyps scattered throughout the colon. She was treated with nutritional support and corticosteroid with complete resolution of her symptoms and endoscopic findings...
June 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28689546/-two-cases-of-the-rare-cronkhite-canada-syndrome
#14
Thorbjørn Christensen, Ove B Schaffalitzky de Muckadell
Cronkhite-Canada syndrome (CCS) is a rare non-heritable condition characterized by gastrointestinal polyposis, dysgeusia, malnutrition, total alopecia and onychodystrophia. Two Danish cases of CCS (an 88-year-old female and a 69-year-old male) presented with signs of malnutrition, dyspepsia, vomiting, dysgeusia and hair loss. An upper endoscopy revealed marked oedema and polyposis in the stomach. Both patients developed colonic adenocarcinomas which were radically operated. Treatment consisted of hyperalimentation, prednisolone and azathioprine...
July 3, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28674119/cancer-screening-recommendations-and-clinical-management-of-inherited-gastrointestinal-cancer-syndromes-in-childhood
#15
REVIEW
Maria Isabel Achatz, Christopher C Porter, Laurence Brugières, Harriet Druker, Thierry Frebourg, William D Foulkes, Christian P Kratz, Roland P Kuiper, Jordan R Hansford, Hector Salvador Hernandez, Katherine L Nathanson, Wendy K Kohlmann, Leslie Doros, Kenan Onel, Kami Wolfe Schneider, Sarah R Scollon, Uri Tabori, Gail E Tomlinson, D Gareth R Evans, Sharon E Plon
Hereditary gastrointestinal cancer predisposition syndromes have been well characterized, but management strategies and surveillance remain a major challenge, especially in childhood. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in care of children with a hereditary risk of cancer met to define surveillance strategies and management of children with cancer predisposition syndromes. In this article, we review the current literature in polyposis syndromes that can be diagnosed in childhood and may be associated with an increased incidence of gastrointestinal neoplasms and other cancer types...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28666493/sporadic-case-of-peutz-jeghers-polyp-in-a-14-year-boy
#16
Naheed Sultan, Rabbiya Ali
Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips, the buccal mucosa, and anal area. Patients have a strong family history. Patients of PJS present with abdominal pain, blood in stools, and occasionally melena because of polyps, along with classical mucocutaneous pigmentation. Very rarely a sporadic case of Peutz-Jeghers syndrome occurs in early childhood and adolescent. The case of a 14-year boy is reported, who presented with intussussception and bleeding per rectum due to jejunal polyp and a rectal polyp...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28653895/cancer-risk-in-patients-with-peutz-jeghers-syndrome-a-retrospective-cohort-study-of-336-cases
#17
Hong-Yu Chen, Xiao-Wei Jin, Bai-Rong Li, Ming Zhu, Jing Li, Gao-Ping Mao, Ya-Fei Zhang, Shou-Bin Ning
Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyposis. A growing body of evidence has shown that Peutz-Jeghers syndrome could cause an increased risk of various cancers, yet the range of cancer risk estimates was wide among different studies. In this retrospective cohort study, 336 patients with Peutz-Jeghers syndrome in China were enrolled. The clinical characteristics, cancer spectrum, relative cancer risks, and cumulative cancer risks were analyzed...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28652665/application-of-novel-magnified-single-balloon-enteroscopy-for-a-patient-with-cronkhite-canada-syndrome
#18
Masaki Murata, Shigeki Bamba, Kenichiro Takahashi, Hirotsugu Imaeda, Atsushi Nishida, Osamu Inatomi, Tomoyuki Tsujikawa, Ryoji Kushima, Mitsushige Sugimoto, Akira Andoh
We present a case of Cronkhite-Canada syndrome (CCS) in which the entire intestine was observed using a prototype of magnifying single-balloon enteroscope (SIF Y-0007, Olympus). CCS is a rare, non-familial gastrointestinal polyposis with ectodermal abnormalities. To our knowledge, this is the first report showing magnified intestinal lesions of CCS. A 73-year-old female visited our hospital with complaints of diarrhea and dysgeusia. The blood test showed mild anemia and hypoalbuminemia. The esophagogastroduodenoscopy and colonoscopy revealed diffuse and reddened sessile to semi-pedunculated polyps, resulting in the diagnosis of CCS...
June 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28553630/choice-of-allograft-in-patients-requiring-intestinal-transplantation-a-critical-review
#19
REVIEW
Genevieve Huard, Thomas Schiano, Jang Moon, Kishore Iyer
Intestinal transplantation (ITx) is indicated in patients with irreversible intestinal failure (IF) and life-threatening complications related to total parenteral nutrition (TPN). ITx can be classified into three main types. Isolated intestinal transplantation (IITx), that is, transplantation of the jejunoileum, is indicated in patients with preserved liver function. Combined liver-intestine transplantation (L-ITx), that is, transplantation of the liver and the jejunoileum, is indicated in patients with liver failure related to TPN...
2017: Canadian Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28462913/a-clinicopathologic-evaluation-of-incidental-fundic-gland-polyps-with-dysplasia-implications-for-clinical-management
#20
Isaac E Lloyd, Wendy K Kohlmann, Keith Gligorich, Amy Hall, Elaine Lyon, Erinn Downs-Kelly, Wade S Samowitz, Mary P Bronner
OBJECTIVES: Fundic gland polyps (FGPs) can rarely exhibit dysplasia of the surface epithelium. Based on retrospective data, FGPs with dysplasia (FGPDs) are thought to be a strong marker for familial adenomatous polyposis (FAP), although sporadic, non-syndromic FGPDs also occur. Owing to the significant syndromic association, diagnosis of an apparently sporadic FGPD may prompt clinical evaluation for FAP, especially its attenuated variant. We sought to evaluate the positive predictive value of incidental FGPDs for FAP...
July 2017: American Journal of Gastroenterology
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