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Gastrointestinal Polyposis Syndromes

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https://www.readbyqxmd.com/read/28725309/cronkhite-canada-syndrome-a-rare-cause-of-chronic-diarrhea
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
May 2, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28454282/gastrointestinal-tract-cancers-genetics-heritability-and-germ-line-mutations
#9
Xiao-Peng Lv
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28437000/magnetically-guided-capsule-endoscopy
#10
REVIEW
Naveen Shamsudhin, Vladimir I Zverev, Henrik Keller, Salvador Pane, Peter W Egolf, Bradley J Nelson, Alexander M Tishin
Wireless capsule endoscopy (WCE) is a powerful tool for medical screening and diagnosis, where a small capsule is swallowed and moved by means of natural peristalsis and gravity through the human gastrointestinal (GI) tract. The camera-integrated capsule allows for visualization of the small intestine, a region which was previously inaccessible to classical flexible endoscopy. As a diagnostic tool, it allows to localize the sources of bleedings in the middle-part of the gastrointestinal tract and to identify diseases such as inflammatory bowel disease (Crohn's disease), Polyposis-Syndrome and tumors...
April 24, 2017: Medical Physics
https://www.readbyqxmd.com/read/28434922/association-of-autoimmune-thyroiditis-and-celiac-disease-with-juvenile-polyposis-due-to-10q23-1q23-31-deletion-potential-role-of-pi3k-akt-pathway-dysregulation
#11
Federica Guaraldi, Giovanni Di Nardo, Luigi Tarani, Luca Bertelli, Francesco Claudio Susca, Rosanna Bagnulo, Nicoletta Resta
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28428902/nonfamilial-juvenile-polyposis-syndrome-with-exon-5-novel-mutation-in-smad-4-gene
#12
Amna Ahmed, Badr Alsaleem
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28391433/a-peutz-jeghers-syndrome-family-associated-with-sinonasal-adenocarcinoma-28-years-follow-up-report
#13
Jy-Ming Chiang, Tse-Ching Chen
Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by hamartomatous polyps in both of the gastrointestinal tract and mucosal pigmentation. It could increase in risk of intestinal and extra-intestinal neoplasms. We here described three cases of sinonasal polyposis in a PJS family and two developed sinonasal type adenocarcinoma. Genetic study revealed a germline STK11/LKB1 mutation on codon 179 (c.C536G, p.P179R) of exon 4. LOH analysis of the LKB1 locus confirms this to be a deleterious mutation...
April 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28352323/correlation-between-genotype-and-phenotype-in-three-families-with-peutz-jeghers-syndrome
#14
Yanli Zhang, Yao Ke, Xueni Zheng, Qing Liu, Xiaohong Duan
Peutz-Jeghers syndrome (PJS) is a hereditary disorder characterized by mucocutaneous pigmentations, gastrointestinal (GI) polyposis and an increased risk of certain malignancies. Little is known about the causative genes of PJS, or their association with the clinical phenotypes of PJS. The present study reports the results of clinical and genetic analysis of three Chinese families with PJS. In addition, the medical histories and clinical manifestations of these families were compared. DNA was collected from the blood samples of patients with PJS and controls...
February 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28341823/a-case-with-serrated-polyposis-syndrome-controlled-by-multiple-applications-of-endoscopic-mucosal-resection-and-endoscopic-submucosal-dissection
#15
Daisuke Suzuki, Satohiro Matsumoto, Hirosato Mashima
BACKGROUND Serrated polyposis syndrome (SPS) is characterized by numerous hyperplastic polyps and sessile serrated adenoma/polyp (SSA/P) in the large intestine. SSA/P is known to transform into malignant lesions through the serrated pathway instead of the adenoma-carcinoma sequence. Early diagnosis with lower gastrointestinal endoscopy and early treatment are now considered to be essential. CASE REPORT We had an experience with a case of SPS to which endoscopic treatment was applied in multiple sessions. Endoscopic treatment was performed for 16 lesions in total, and the pathological findings were SSA/P for 15 and adenoma for the other lesion...
March 25, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28283864/lower-gastrointestinal-neuroendocrine-neoplasms-associated-with-hereditary-cancer-syndromes-a-case-series
#16
Trilokesh D Kidambi, Christina Pedley, Amie Blanco, Emily K Bergsland, Jonathan P Terdiman
Lower gastrointestinal (GI) neuroendocrine neoplasms (NENs) of the colon and rectum are uncommon and not traditionally associated with hereditary GI cancer syndromes. However, with widespread implementation of colorectal cancer screening programs, lower GI NENs are being identified with increasing frequency. We report the first case series of six patients with lower GI NENs who were diagnosed with hereditary GI cancer syndromes by germline testing. Two patients presented with poorly differentiated rectal neuroendocrine carcinoma (NECs) with colonic polyposis and were found to have Familial Adenomatous Polyposis and MYH-Associated Polyposis, respectively...
March 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28271094/clinical-outcomes-of-gastric-polyps-and-neoplasms-in-patients-with-familial-adenomatous-polyposis
#17
Keiko Nakamura, Satoru Nonaka, Takeshi Nakajima, Tatsuo Yachida, Seiichiro Abe, Taku Sakamoto, Haruhisa Suzuki, Shigetaka Yoshinaga, Ichiro Oda, Takahisa Matsuda, Shigeki Sekine, Yukihide Kanemitsu, Hitoshi Katai, Yutaka Saito, Seiichi Hirota
Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the colorectum. The upper gastrointestinal tract is an extracolonic site for malignancy in patients with FAP. The frequency of death in Japanese patients with FAP because of gastric cancer is 2.8 % and that because of colon cancer is 60.6 %. Few studies have reported upper gastrointestinal diseases in patients with FAP...
March 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28184053/gastrointestinal-diseases-and-their-oro-dental-manifestations-part-4-peutz-jeghers-syndrome
#18
S E Korsse, M E van Leerdam, E Dekker
Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant inherited disorder, caused by germline mutations in the LKB1 tumour suppressor gene. It is clinically characterised by distinct perioral mucocutaneous pigmentations, gastrointestinal polyposis and an increased cancer risk in adult life. Hamartomatous polyps can develop already in the first decade of life and may cause various complications, including abdominal pain, bleeding, anaemia, and acute intestinal obstruction. Furthermore, patients have an increased risk for developing cancer, both in the gastrointestinal tract as in other organs...
February 10, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28063287/clinical-practice-guidelines-for-the-use-of-video-capsule%C3%A2-endoscopy
#19
REVIEW
Robert A Enns, Lawrence Hookey, David Armstrong, Charles N Bernstein, Steven J Heitman, Christopher Teshima, Grigorios I Leontiadis, Frances Tse, Daniel Sadowski
BACKGROUND & AIMS: Video capsule endoscopy (CE) provides a noninvasive option to assess the small intestine, but its use with respect to endoscopic procedures and cross-sectional imaging varies widely. The aim of this consensus was to provide guidance on the appropriate use of CE in clinical practice. METHODS: A systematic literature search identified studies on the use of CE in patients with Crohn's disease, celiac disease, gastrointestinal bleeding, and anemia...
February 2017: Gastroenterology
https://www.readbyqxmd.com/read/28035305/gardner-syndrome-associated-with-multiple-osteomas-intestinal-polyposis-and-epidermoid-cysts
#20
Kwang-Joon Koh, Ha-Na Park, Kyoung-A Kim
Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body...
December 2016: Imaging Science in Dentistry
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