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Gastrointestinal polyposis

Yong-Sik Bong, Shahin Assefnia, Therese Tuohy, Deborah W Neklason, Randall W Burt, Jaeil Ahn, Hao-Wen J Jiang, Stephen W Byers
Vitamin D is implicated in the etiology of cancers of the gastrointestinal tract, usually characterized by alteration in the APC/β-catenin/TCF tumor suppressor pathway. The vitamin D receptor (VDR) is also implicated in cardiovascular and skin diseases as well as in immunity. Activated VDR can indirectly alter β-catenin nuclear localization and directly suppress β-catenin/TCF mediated transcriptional activity. We treated VDR null mice with the carcinogen azoxymethane (AOM) and generated mice bearing a mutated APC (hypomorph) on a VDR null background (Apc1638N/+Vdr-/-)...
October 19, 2016: Oncotarget
Kohei Yamakawa, Takuya Yoshino, Kotaro Watanabe, Koichiro Kawano, Akira Kurita, Naomi Matsuzaki, Yoshiaki Yuba, Shujiro Yazumi
BACKGROUND: Cronkhite-Canada syndrome (CCS) is a rare non-inherited disorder, characterized by gastrointestinal polyposis and ectodermal changes. The pathophysiology remains unclear. Treatment with corticosteroids is considered the mainstay treatment because of its high efficacy. However, some patients have steroid-resistant CCS. The therapeutic strategy for steroid-resistant CCS is not yet established. We report two cases with steroid-resistant CCS that were effectively treated with cyclosporine (CyA)...
October 6, 2016: BMC Gastroenterology
Ruthy Shaco-Levy, Kory W Jasperson, Katie Martin, N J Samadder, Randall W Burt, Jian Ying, Mary P Bronner
GOALS: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome. BACKGROUND: The gastrointestinal manifestations of Cowden Syndrome, an important heritable and multiorgan cancer syndrome, are not well defined. Proper diagnosis is essential for effective cancer surveillance and prevention in these patients. STUDY: Cowden patients with gastrointestinal polyps were selected for medical record and pathologic slide review...
September 22, 2016: Journal of Clinical Gastroenterology
Julien Vouillarmet, Fabio Fernandes-Rosa, Julia Graeppi-Dulac, Pierre Lantelme, Myriam Decaussin-Petrucci, Charles Thivolet, Jean-Louis Peix, Sheerazed Boulkroun, Eric Clauser, Maria-Christina Zennaro
CONTEXT: Recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1 and ATP2B3 have been identified in aldosterone producing adenomas (APA). The question as to whether they are responsible for both nodulation and aldosterone production is not solved. CASE DESCRIPTION: We describe the case of a young patient who was diagnosed with severe arterial hypertension due to primary aldosteronism at age 26, followed by hemorrhagic stroke four years later. Abdominal computed tomography showed bilateral macronodular adrenal hyperplasia...
September 20, 2016: Journal of Clinical Endocrinology and Metabolism
Yi-Han Hsiao, Chin-Hung Wei, Szu-Wen Chang, Lung Chang, Yu-Wei Fu, Hung-Chang Lee, Hsuan-Liang Liu, Chun-Yan Yeung
BACKGROUND: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. METHODS: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially...
September 2016: Medicine (Baltimore)
Takuya Nagata, Yusuke Demizu, Tomoyuki Okumura, Shinichi Sekine, Naoki Hashimoto, Nobukazu Fuwa, Tomoaki Okimoto, Yutaka Shimada
BACKGROUND: Desmoid tumors, which are associated with familial adenomatous polyposis (FAP), tend to occur frequently in the abdominal wall and mesentery. Currently, there are no recognized treatments other than surgery, and frequent surgeries result in gastrointestinal obstructions and functional gastrointestinal disorders. CASE PRESENTATION: After surgery that was performed on a 39-year-old patient with FAP, we performed a second tumor excision which was the procedure used for frequently occurring mesenteric desmoid tumors...
2016: World Journal of Surgical Oncology
Alexia Waller, Sarah Findeis, Michael J Lee
Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. In this review, the pathology, epidemiology, and genetic features of FAP are discussed...
June 2016: Journal of Pediatric Genetics
Qiang Ding, Panpan Lu, Shuping Ding, Yuhui Fan, Wei Yan, Ying Wang, Dean Tian, Yujia Xia, Mei Liu
INTRODUCTION: Ménétrier disease (MD) is rare that is involved in both the small bowel and entire colon. THE MAIN SYMPTOMS AND THE IMPORTANT CLINICAL FINDINGS: We describe a case of a 76-year-old male patient whose clinical presentations include intermittent diarrhea, epigastric pain, nausea, vomiting, asitia, and weight loss. An endoscopy was performed showing a large number of irregular forms and different sizes of polypoid lesions in the gastrointestinal tract, which is rare for MD...
September 2016: Medicine (Baltimore)
Fady Daniel, Hazem I Assi, Walid Karaoui, Jean El Cheikh, Sami Bannoura, Samer Nassif
Mantle cell lymphoma (MCL) is a subtype of non-Hodgkin's lymphoma (NHL) comprising around 7% of adult NHL. It is characterized by a chromosomal translocation t(11:14) and overexpression of Cyclin D1. The incidence of secondary gastrointestinal tract involvement in MCL ranges from 10 to 28% in various series. However primary gastrointestinal MCL is very rare, accounting for only 1 to 4% of primary gastrointestinal lymphomas. The most common endoscopic feature of primary intestinal MCL is multiple lymphomatous polyposis...
2016: Case Reports in Gastrointestinal Medicine
Lodewijk A A Brosens, Francis M Giardiello, G Johan Offerhaus, Elizabeth A Montgomery
Gastric polyps occur in 1-4 % of patients undergoing gastroscopy. Although most are sporadic, some gastric polyps are part of an underlying hereditary syndrome. Gastric polyps can be seen in each of the well-known gastrointestinal polyposis syndromes, but also in Lynch syndrome and in several rare not primarily gastrointestinal syndromes. In addition, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) is a recently described heritable syndrome characterized by isolated gastric polyposis and risk of gastric cancer...
2016: Advances in Experimental Medicine and Biology
Mehmet Ilhan, Gizem Oner, Alpay Alibeyoglu, Gülçin Yeğen, Ali Fuat Kaan Gök, Filiz Akyüz, Fuat Bicen
Lymphangioma is a rare benign tumor that occurs due to abnormalities occurring during lymphatic development. It is usually seen in children and young adults. The incidence of lymphangiomas in the gastrointestinal tract is very low. Here we describe the case of 43-year-old woman with lymphangioma of the ileum with infiltrative polyposis-like appearing lesions diagnosed by capsule endoscopy and treated with segmental resection of affected intestinal part with laparotomy. Lesions involving mesentery and ileum were confirmed by pathology...
2016: Journal of Surgical Case Reports
Rodolfo J Oviedo, Bruce M Dixon, Chase W Sofiak
INTRODUCTION: Rectal bleeding is the most common symptom of Familial Adenomatous Polyposis (FAP). This case investigates the efficacy of emergency surgery for FAP with total proctocolectomy end ileostomy for recurrent lower gastrointestinal (GI) hemorrhage in an uninsured patient in a 266-bed community hospital. The optimal treatment for FAP with acute lower GI hemorrhage and hemodynamic compromise unresponsive to conservative management is unclear. PRESENTATION OF CASE: A 41-year-old uninsured African American man with no past medical or family history presented to the emergency department with hematochezia lasting three days...
2016: International Journal of Surgery Case Reports
Anne Marie Jelsig
Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance...
August 2016: Danish Medical Journal
Lucas A McDuffie, Arvind Sabesan, Michael Allgäeuer, Liqiang Xin, Christopher Koh, Theo Heller, Jeremy L Davis, Mark Raffeld, Markku Miettienen, Martha Quezado, Udo Rudloff
AIM: To evaluate possible colon involvement in the 'gastric adenocarcinoma and proximal polyposis of the stomach' (GAPPS) gastrointestinal polyposis syndrome. METHODS: Prospective clinicopathological evaluation of two GAPPS families and expression of nuclear β-catenin, p53 and Ki67 measured by immunohistochemistry on endoscopic and surgical specimens from patients with GAPPS. RESULTS: Patients with the GAPPS phenotype were more frequently affected by colonic polyps than patients at risk within the same families (p<0...
September 2016: Journal of Clinical Pathology
Gabriela Möslein
Due to the advances in molecular genetic diagnostics of adenomatous polyposis variants, identification of patients with a genetic predisposition and their at risk relatives is becoming increasingly important in clinical practice. Precise knowledge of the specific risk profile is gaining significance especially for surgeons and requires a clinically differentiated approach in order to correctly identify the indications for prophylactic surgery. In this article reference will be made to the technical details of the pouch operation rather than the decision-making process per se, since this has become common knowledge for specialized colorectal surgeons...
August 2016: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
Selçuk Dişibeyaz, Nuretdin Suna, Ufuk Barış Kuzu, Fatih Saygılı, Erkin Öztaş, Bülent Ödemiş, İbrahim Koral Önal, Zeki Mesut Yalın Kılıç, Meral Akdoğan, Ertuğrul Kayaçetin
BACKGROUND: Double Balloon Enteroscopy (DBE) provides the opportunity not only to investigate but also apply endoscopic therapeutic interventions for small intestinal disturbances. The aim of this study is to assess the indications, diagnosis, therapeutic interventions, complications and safety in clinical practise of DBE procedures that have been performed in our clinic. MATERIAL-METHODS: The data of patients who had undergone DBE procedure in our clinic between October 2007 and December 2014 were retrospectively investigated...
September 2016: European Journal of Internal Medicine
Michael Malandra, Sunpreet Kaur, Ashish Chogle
INTRODUCTION: Benign juvenile hamartomatous polyps are common in pediatric gastrointestinal practice. We hypothesize that in the absence of gross mucosal abnormalities, the likelihood of histologic abnormalities from routine random colonic biopsies is low. METHODS: We performed a retrospective chart review identifying patients aged 1 to 18 years who underwent complete colonoscopy and polypectomy for suspected colorectal polyps from January 1, 2004 to July 1, 2014...
June 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
Min-Er Zhong, Bei-Zhan Niu, Wu-Yang Ji, Bin Wu
We report on a patient diagnosed with Peutz-Jeghers syndrome (PJS) with synchronous rectal cancer who was treated with laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA). PJS is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation, and increased risks of gastrointestinal and nongastrointestinal cancer. This report presents a patient with a 20-year history of intermittent bloody stool, mucocutaneous pigmentation and a family history of PJS, which together led to a diagnosis of PJS...
June 14, 2016: World Journal of Gastroenterology: WJG
Gregory Nicolas, Tony Kfoury, Rasha Shimlati, Maroon Tohme, Raja Wakim
BACKGROUND: Mesenteric fibromatosis, also known as mesenteric desmoids, is part of the clinical-pathologic spectrum of deep fibromatosis, which encompasses a group of benign fibro-proliferative processes that are locally aggressive and have the capacity to infiltrate or recur without metastasis. CASE REPORT: Case of a 45-year-old man, with a history of hypertension and lung fibrosis, presenting for a left abdominal mass, which was found incidentally during his lung fibrosis imaging...
2016: American Journal of Case Reports
Emily E K Meserve, Marisa R Nucci
Peutz-Jeghers syndrome (PJS), in most cases, is attributed to mutation in STK11/LKB1 and is clinically characterized by gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and predisposition to certain neoplasms. There are currently no recommended gynecologic screening or clinical surveillance guidelines beyond those recommended for the general population; however, cervical cytology samples must be examined with a high level of suspicion for cervical adenocarcinoma. It is considered prudent to note the established association with PJS and recommend referral for genetic counseling...
June 2016: Surgical Pathology Clinics
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