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Family adenomatous polyposis

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https://www.readbyqxmd.com/read/29221194/altered-microrna-profiles-during-early-colon-adenoma-progression-in-a-porcine-model-of-familial-adenomatous-polyposis
#1
Monika Stachowiak, Tatiana Flisikowska, Stefan Bauersachs, Carolin Perleberg, Hubert Pausch, Marek Switonski, Alexander Kind, Dieter Saur, Angelika Schnieke, Krzysztof Flisikowski
MicroRNAs are dysregulated in various cancers including colorectal cancer, and are potential useful biomarkers of disease development. We used next generation sequencing to investigate miRNA expression profiles in low- and high-grade intraepithelial dysplastic polyps from pigs carrying a mutation in the adenomatous polyposis coli tumour suppressor (APC1311 , orthologous to human APC1309 ) that model an inherited predisposition to colorectal cancer, familial adenomatous polyposis. We identified several miRNAs and their isomiRs significantly (P < 0...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29217947/coexistence-of-peripheral-spondyloarthritis-and-familial-adenomatous-polyposis-a-rare-case-report-with-treatment-contradictions-and-review-of-the-literature
#2
Berna Urkmez, Muge Kepekci, Sevde Ozer Posul, Aylin Rezvani
Background: The coexistence of familial adenomatous polyposis and spondyloarthritis is rarely defined in literature. The primary aim of this presentation is to report a development of peripheral arthritis in 3 years following colon surgery with the diagnosis of familial adenomatous polyposis (FAP). The secondary aim is to discuss the challenge of in treatment of refractory arthritis, which needs to be treated with biologics. However, it is not yet known well about their safety on patients who have risks for cancer development...
July 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/29216840/over-the-scope-clip-pre-mounted-onto-a-double-balloon-enteroscope-for-fast-and-successful-closure-of-post-emr-jejunal-perforation-case-report
#3
Flaminia Purchiaroni, Takeshi Nakajima, Taku Sakamoto, Seiichiro Abe, Yutaka Saito
BACKGROUND: Familial adenomatous polyposis (FAP) is a rare, autosomal dominant disease clinically characterized by the early onset of many adenomatous polyps throughout the colon, which turn into colon cancer, if left untreated. In FAP patients, polyps can also occur in the upper gastrointestinal (GI) tract, especially in the duodenum. Adenomas beyond duodenum are rare and mostly located in the proximal jejunum and distal ileum. The management of such polyps can be either surgical or endoscopic, depending on the features of the polyp, Spigelman stage and patient's clinical conditions...
December 8, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/29206907/a-novel-bioactive-derivative-of-eicosapentaenoic-acid-epa-suppresses-intestinal-tumor-development-in-apc%C3%AE-14-mice
#4
Masako Nakanishi, Matthew P Hanley, Ruochen Zha, Yuichi Igarashi, Mark A Hull, Gary Mathias, Frank Sciavolino, James J Grady, Daniel W Rosenberg
Familial adenomatous polyposis (FAP) is a genetic disorder characterized by the development of hundreds of polyps throughout the colon. Without prophylactic colectomy, most individuals with FAP develop colorectal cancer at an early age. Treatment with eicosapentaenoic acid (EPA) in the free fatty acid form (EPA-FFA) has been shown to reduce polyp burden in FAP patients. Since high-purity EPA-FFA is subject to rapid oxidation, a stable form of EPA compound has been developed in the form of magnesium l-lysinate bis-eicosapentaenoate (TP-252)...
December 1, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/29189961/feasibility-of-endoscopic-resection-using-bipolar-snare-for-nonampullary-duodenal-tumours-in-familial-adenomatous-polyposis-patients
#5
Kazuya Inoki, Takeshi Nakajima, Satoru Nonaka, Seiichiro Abe, Haruhisa Suzuki, Shigetaka Yoshinaga, Ichiro Oda, Masayoshi Yamada, Mizuki Takatsu, Hiroshi Yoshida, Hirokazu Taniguchi, Shigeki Sekine, Yuichiro Ohe, Yutaka Saito
The management of duodenal and colorectal tumours is important in patients with familial adenomatous polyposis (FAP). Endoscopic resection (ER) should be carefully performed because the risk of complications during or after (ER) of nonampullary duodenal tumours is higher than that of stomach or colorectal lesions in general. Thus, we evaluated the feasibility of endoscopic resection using bipolar snare (ERB) for nonampullary duodenal tumours in FAP patients. Eleven FAP patients who underwent ERB for nonampullary duodenal tumours at our hospital between October 2013 and December 2016 were retrospectively analysed based on clinicopathological features...
November 30, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29188631/-advance-in-research-on-the-correlation-between-genotypes-of-susceptible-mutations-and-clinical-phenotype-of-familial-adenomatous-polyposis
#6
Shengliang He, Jing Du, Fangqi Liu
Familial adenomatous polyposis (FAP) is one of the most common hereditary colorectal cancers. Its intestinal and extra-intestinal manifestations are correlated with mutation sties of the APC gene. Potential gene modulation sites in patients who have typical clinical manifestations but with unidentified APC mutations are also discussed, which included MUTYH gene, AXIN gene and certain epigenetic changes. With the generalization of Precision Medicine, to offer individualized treatment and surveillance strategy based on the genotype-phenotype correlation will be of great value for FAP patients...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29184692/advanced-duodenal-neoplasia-and-carcinoma-in-familial-adenomatous-polyposis-outcomes-of-surgical-management
#7
Fábio Guilherme Campos, Carlos Augusto Real Martinez, Leonardo Alfonso Bustamante Lopez, Danilo Toshio Kanno, Sérgio Carlos Nahas, Ivan Cecconello
Background: In addition to the presence of neoplasia in the colon and rectum, patients with familial adenomatous polyposis (FAP) may develop numerous polyps and carcinoma within the upper gastrointestinal tract. Methods: The aim of the present paper was to review the incidence advanced duodenal polyposis or cancer and their surgical outcomes. A retrospective review of patients' records from our department was performed. Information was retrieved from a prospective collected data, including clinical (gender, age, family history), endoscopic [association with colorectal cancer (CRC), polyposis severity, age at diagnosis] and surgical management (age, time from the index surgery, type of procedure, morbidity)...
October 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/29178089/-current-status-of-hereditary-gastrointestinal-neoplasms
#8
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/29169633/pathology-and-genetics-of-hereditary-colorectal-cancer
#9
REVIEW
Huiying Ma, Lodewijk A A Brosens, G Johan A Offerhaus, Francis M Giardiello, Wendy W J de Leng, Elizabeth A Montgomery
Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions...
November 20, 2017: Pathology
https://www.readbyqxmd.com/read/29168141/initial-experience-with-tatme-in-patients-undergoing-laparoscopic-restorative-proctocolectomy-for-familial-adenomatous-polyposis
#10
P C Ambe, H Zirngibl, G Möslein
BACKGROUND: Transanal total mesorectal excision (taTME) is a minimally invasive technique which was developed to overcome the difficulties associated with the "top-down" pelvic dissection by enabling a "bottom-up" dissection in patients with mid- and low rectal cancer. While this technique was primarily designed to manage tumors in the mid- and lower rectum, its spectrum of indications has been broadened to include benign colorectal pathologies. The aim of the present study was to assess our initial experience with taTME in patients undergoing restorative proctocolectomy for familial adenomatous polyposis (FAP)...
November 22, 2017: Techniques in Coloproctology
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
#11
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/29149121/ethics-and-genetics-examining-a-crossroads-in-nursing-through-a-case-study%C3%A2
#12
Laura Curr Curr Beamer
BACKGROUND: The field of genetics and genomics is rapidly expanding, particularly in oncology. Genetics and genomics can lead to ethical concerns. Oncology nurses must balance the need for evidence-based oncology care with that of ethical care for patients and their family members. OBJECTIVES: The purpose of this article is to provide an overview of cancer genetics and ethics and their impact on oncology nurses, patients, and families. METHODS: A case study of familial adenomatous polyposis (FAP) is offered to illustrate the impact of a hereditary cancer syndrome on several generations of a family and ethical issues surrounding cancer genetics...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29147895/routine-virtual-ileostomy-following-restorative-proctocolectomy-for-familial-adenomatous-polyposis
#13
Peter C Ambe, Hubert Zirngibl, Gabriela Möslein
BACKGROUND: Anastomotic leakage (AL) is the most feared complication in colorectal surgery. A diverting ileostomy is routinely used to prevent or reduce morbidity and mortality following AL. However, a diverting ileostomy cannot prevent AL. Besides, diverting ileostomy might be associated with relevant complications. Herein, we introduce the virtual ileostomy as an alternative to diverting ileostomy in patients undergoing restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) for familial adenomatous polyposis (FAP)...
November 16, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29146522/germline-genetic-features-of-young-individuals-with-colorectal-cancer
#14
Elena M Stoffel, Erika Koeppe, Jessica Everett, Peter Ulintz, Mark Kiel, Jenae Osborne, Linford Williams, Kristen Hanson, Stephen B Gruber, Laura S Rozek
BACKGROUND & AIMS: The incidence of colorectal cancer (CRC) in individuals younger than 50 years old is increasing. We sought to ascertain the proportion of young CRC cases associated with genetic predisposition. METHODS: We performed a retrospective study of individuals diagnosed with CRC at an age younger than 50 years, evaluated by the clinical genetics service at a single tertiary care cancer center from 1998 through 2015. We collected data on patient histories, tumor phenotypes, and results of germline DNA sequencing...
November 12, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29141268/gastric-adenocarcinoma-and-proximal-polyposis-of-the-stomach-gapps-a-rare-recently-described-gastric-polyposis-syndrome-report-of-a-case
#15
Andrea Beer, Berthold Streubel, Reza Asari, Clemens Dejaco, Georg Oberhuber
In rare cases with multiple gastric polyps in the corpus and fundus, a recently described gastric polyposis syndrome called gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) has to be considered. We report on the findings in a patient fulfilling the criteria of this disease.A female patient born in 1977 underwent gastroscopy in 2005 due to recurrent abdominal pain. Endoscopy revealed more than 100 fundic gland polyps in the corpus and fundus. An ileocolonoscopy was inconspicuous. The patient did not take proton pump inhibitors...
November 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29132333/oestrogen-receptor-beta-isoform-expression-in-sporadic-colorectal-cancer-familial-adenomatous-polyposis-and-progressive-stages-of-colorectal-cancer
#16
Paulo Roberto Stevanato Filho, Samuel Aguiar Júnior, Maria Dirlei Begnami, Hellen Kuasne, Ranyell Matheus Spencer, Wilson Toshihiko Nakagawa, Tiago Santoro Bezerra, Bruna Catin Kupper, Renata Maymi Takahashi, Mateus Barros Filho, Silvia Regina Rogatto, Ademar Lopes
BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas are poorly described. METHODS: This study aimed to investigate the expression levels of the ERβ1, ERβ2, ERβ4 and ERβ5 isoform variants using quantitative RT-PCR (921 analyses) in FAP, normal mucosa, adenomatous polyps and sporadic colorectal carcinomas...
November 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29125801/laparoscopic-versus-open-restorative-proctocolectomy-for-familial-adenomatous-polyposis
#17
Fábio Guilherme Campos, Carlos Augusto Real Martinez, Mariane Gouveia Monteiro de Camargo, Daniele Menezes Cesconetto, Sérgio Carlos Nahas, Ivan Cecconello
PURPOSE: This study compared outcomes after laparoscopic (LAP) or conventional (open) total proctocolectomy with outcomes after ileal J-pouch anal anastomosis (IPAA) at a single institution. METHODS: Charts from 133 familial adenomatous polyposis patients (1997-2013) were reviewed. Demographic data (age, sex, color, American Society of Anesthesiologists [ASA] status, previous surgery, and body mass index) and surgical outcomes (length of stay, early and late morbidity, reoperation, and mortality rates) were compared among 63 patients undergoing IPAA...
November 10, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29122597/upper-gi-involvement-in-children-with-familial-adenomatous-polyposis-syndrome-single-center-experience-and-meta-analysis-of-the-literature
#18
Luz H Gutierrez Sanchez, Mouaz Alsawas, Michael Stephens, Mohammad Hassan Murad, Imad Absah
BACKGROUND AND AIMS: Familial adenomatous polyposis (FAP) is a hereditary syndrome that can affect the entire GI tract. Current screening recommendations include esophagogastroduodenoscopy (EGD) starting at age 25 to 30 years or earlier in symptomatic patients. However, there are few reports describing upper GI tract involvement in children with FAP which support the notion of early screening. The aim of our study is to understand the prevalence and severity of upper GI involvement in children with FAP...
November 6, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29112017/neoplastic-lesions-of-gastric-adenocarcinoma-and-proximal-polyposis-syndrome-gapps-are-gastric-phenotype
#19
Willem B de Boer, Hooi Ee, Marian P Kumarasinghe
Neoplastic lesions of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) are gastric phenotype. GAPPS was reported in 2011 as a new autosomal dominant gastric polyposis syndrome characterized by involvement of the gastric body/fundus with sparing of the antrum by multiple polyps, reported to be primarily fundic gland polyps (FGPs), with progression to dysplasia and adenocarcinoma of intestinal type. Our series consists of 51 endoscopic biopsies and 5 gastrectomy specimens from 25 patients belonging to a previously defined GAPPS family...
November 3, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29109117/chemoprevention-with-cyclooxygenase-and-epidermal-growth-factor-receptor-inhibitors-in-familial-adenomatous-polyposis-patients-mrna-signatures-of-duodenal-neoplasia
#20
Don A Delker, Austin C Wood, Angela K Snow, N Jewel Samadder, Wade S Samowitz, Kajsa E Affolter, Kenneth M Boucher, Lisa M Pappas, Inge J Stijleman, Priyanka Kanth, Kathryn R Byrne, Randall W Burt, Philip S Bernard, Deborah W Neklason
To identify gene expression biomarkers and pathways targeted by sulindac and erlotinib given in a chemoprevention trial with a significant decrease in duodenal polyp burden at 6 months (P < 0.001) in familial adenomatous polyposis (FAP) patients, we biopsied normal and polyp duodenal tissues from patients on drug versus placebo and analyzed the RNA expression. RNA sequencing was performed on biopsies from the duodenum of FAP patients obtained at baseline and 6-month endpoint endoscopy. Ten FAP patients on placebo and 10 on sulindac and erlotinib were selected for analysis...
November 6, 2017: Cancer Prevention Research
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