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https://www.readbyqxmd.com/read/28075483/detecting-apc-gene-mutations-in-familial-adenomatous-polyposis-fap
#1
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is characterized by the progressive development of hundreds to thousands of adenomatous colon polyps. The gene associated with FAP (APC) contains 15 coding exons. The mutation spectrum of the APC gene is broad in that 87% of causative mutations are point mutations (including other sequence variants) and around 10% to 15% are intragenic deletions and duplications...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28063287/clinical-practice-guidelines-for-the-use-of-video-capsule%C3%A2-endoscopy
#2
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...
January 4, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28057861/cellular-context-dependent-consequences-of-apc-mutations-on-gene-regulation-and-cellular-behavior
#3
Kyoichi Hashimoto, Yosuke Yamada, Katsunori Semi, Masaki Yagi, Akito Tanaka, Fumiaki Itakura, Hitomi Aoki, Takahiro Kunisada, Knut Woltjen, Hironori Haga, Yoshiharu Sakai, Takuya Yamamoto, Yasuhiro Yamada
The spectrum of genetic mutations differs among cancers in different organs, implying a cellular context-dependent effect for genetic aberrations. However, the extent to which the cellular context affects the consequences of oncogenic mutations remains to be fully elucidated. We reprogrammed colon tumor cells in an Apc(Min/+) (adenomatous polyposis coli) mouse model, in which the loss of the Apc gene plays a critical role in tumor development and subsequently, established reprogrammed tumor cells (RTCs) that exhibit pluripotent stem cell (PSC)-like signatures of gene expression...
January 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28039328/outcome-of-24%C3%A2-years-national-surveillance-in-different-hereditary-colorectal-cancer-subgroups-leading-to-more-individualised-surveillance
#4
Lars Joachim Lindberg, Steen Ladelund, Birgitte Lidegaard Frederiksen, Lars Smith-Hansen, Inge Bernstein
BACKGROUND: Individuals with hereditary non-polyposis colorectal cancer (HNPCC) have a high risk of colorectal cancer (CRC). The benefits of colonic surveillance in Lynch syndrome and Amsterdam-positive (familial CRC type X familial colorectal cancer type X (FCCTX)) families are clear; only the interval between colonoscopies is debated. The potential benefits for families not fulfilling the Amsterdam criteria are uncertain. The aim of this study was to compare the outcome of colonic surveillance in different hereditary subgroups and to evaluate the surveillance programmes...
December 30, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28031412/dual-pi3k-mtor-inhibition-in-colorectal-cancers-with-apc-and-pik3ca-mutations
#5
Tyler M Foley, Susan N Payne, Cheri A Pasch, Alex E Yueh, Dana R Van De Hey, Demetra P Korkos, Linda Clipson, Molly E Maher, Kristina A Matkowskyj, Michael A Newton, Dustin A Deming
: Therapeutic targeting of the phosphoinositide 3-kinase (PI3K) pathway is an active area of research in multiple cancer types, including breast and endometrial cancers. This pathway is commonly altered in cancer and plays an integral role in numerous vital cellular functions. Mutations in the PIK3CA gene, resulting in a constitutively active form of PI3K, often occur in colorectal cancer (CRC), though the population of patients who would benefit from targeting this pathway has yet to be identified...
December 28, 2016: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28013114/diffuse-esophageal-glycogenic-acanthosis-and-colon-polyposis-in-a-patient-with-cowden-syndrome
#6
Rohan M Modi, Christina A Arnold, Peter P Stanich
No abstract text is available yet for this article.
December 21, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28004480/a-metagenomic-study-of-the-preventive-effect-of-lactobacillus-rhamnosus-gg-on-intestinal-polyp-formation-in-apc-min-mice
#7
Yueqiong Ni, Victoria Ho Yee Wong, William Chi Shing Tai, Jun Li, Wing Yan Wong, Magnolia Muk Lan Lee, Fiona Long Yan Fong, Hani El-Nezami, Gianni Panagiotou
AIMS: To investigate the in vivo effects of Lactobacillus rhamnosus GG (LGG) on intestinal polyp development and the interaction between this single-organism probiotic and the gut microbiota therein. METHODS AND RESULTS: The Apc(Min/+) mouse model was used to study the potential preventive effect of LGG on intestinal polyposis, while shotgun metagenomic sequencing was employed to characterize both taxonomic and functional changes within gut microbial community. We found that the progression of intestinal polyps in the control group altered the community functional profile remarkably despite small variation in the taxonomic diversity...
December 22, 2016: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/28002446/the-agaricus-blazei-based-mushroom-extract-andosan%C3%A2-protects-against-intestinal-tumorigenesis-in-the-a-j-min-mouse
#8
Geir Hetland, Dag M Eide, Jon M Tangen, Mads H Haugen, Mohammad R Mirlashari, Jan E Paulsen
BACKGROUND: The novel A/J Min/+ mouse, which is a model for human Familial Adenomatous Polyposis (FAP), develops spontaneously multiple adenocarcinomas in the colon as well as in the small intestine. Agaricus blazei Murill (AbM) is an edible Basidiomycetes mushroom that has been used in traditional medicine against cancer and other diseases. The mushroom contains immunomodulating β-glucans and is shown to have antitumor effects in murine cancer models. Andosan™ is a water extract based on AbM (82%), but it also contains the medicinal Basidiomycetes mushrooms Hericeum erinaceus and Grifola frondosa...
2016: PloS One
https://www.readbyqxmd.com/read/27991685/massive-gastric-juvenile-type-polyposis-a-clinicopathologic-analysis-of-22-cases
#9
Raul S Gonzalez, Volkan Adsay, Rondell P Graham, Stuti G Shroff, Michael M Feely, Michael G Drage, David N Lewin, Eric A Swanson, Rhonda K Yantiss, Pelin Bağci, Alyssa M Krasinskas
AIMS: Massive gastric polyposis is a rare entity often associated with juvenile polyposis syndrome (JPS). We evaluated the clinicopathologic features of 22 patients with abundant gastric juvenile-type or hyperplastic-like polyps. METHODS AND RESULTS: The study included 12 males and 10 females with a median age of 48 years (range: 13-79). Fourteen (64%) patients carried a diagnosis of JPS, and three had prior gastrointestinal adenocarcinomas. Patients without known JPS presented at an older median age (60 versus 40 years; P=0...
December 19, 2016: Histopathology
https://www.readbyqxmd.com/read/27991017/-proctocolectomy-with-j-pouch-ileo-anal-anastomosis-performed-with-pph-stapler-our-experiences-after-88-cases
#10
Csaba Berki, Elemér Mohos, György Réti, Tamás Kovács, Zoltán Jánó, József Mohay, Sándor Horváth, Gábor Bognár, Krisztina Bene, Myroslav Horzov, Gábor Sándor, Gábor Tornai, Petra Mohos, Péter Szenkovits, Tibor Nagy, Csaba Orbán, Vivien Herpai, Attila Nagy
AIM: Ulcerative colitis (CU) or Familiar Polyposis (FAP) can be the indication for proctocolectomy reconstructed with J pouch. The complete removal of the colon mucosa is essential regarding the late complications and at the same time the atraumatic surgical technique is very important concerning on the long term functional results. Both aspects seems to be answered by the stapled ileo-anal anastomosis using a "procedure for prolaps and haemorrhoids (PPH)" stapler applied by us since 2000...
December 2016: Magyar Sebészet
https://www.readbyqxmd.com/read/27989630/-specificities-of-carcinomas-in-adolescents-and-young-adults
#11
REVIEW
Brice Fresneau, Marie-Emilie Dourthe, Anaïs Jouin, Valérie Laurence, Guénolée de Lambert, Christelle Colas, Mathilde Coret, Anne Laprie, Céleste Rebours, Daniel Orbach, Charlotte Demoor-Goldschmidt
Carcinomas are rare tumors of the adolescent-young adult (AYA) with a different spectrum from those of adults. The most common sites outside of the thyroid is the nasopharynx, salivary gland, colon-rectum and ovaries. If nasopharyngeal carcinoma or salivary gland tumors are good prognosis, others are more reserved prognosis, such as digestive carcinomas, gynecological or midline. The revelation modes are non-specific and depend on the location: mass, tumor syndrome, pain, impaired general condition. The unusual of pediatric carcinomas led to propose a systematic oncogenetic exploration...
December 15, 2016: Bulletin du Cancer
https://www.readbyqxmd.com/read/27984123/clinicopathologic-features-of-a-kindred-with-scg5-grem1-associated-hereditary-mixed-polyposis-syndrome
#12
Thomas Plesec, Kathryn Brown, Charles Allen, Carol Burke, James Church, Matthew Kalady, Lisa LaGuardia, Margaret O'Malley, Brandie Heald
Since first characterized in 1997, patients with hereditary mixed polyposis syndrome (HMPS) have been difficult to identify due to lack of well-established diagnostic criteria. Recently, HMPS was found to be caused by a duplication on chromosome 15 spanning the 3' end of the SCG5 gene and a region upstream of the GREM1 locus. Clinical testing for the duplication is available; however, the clinical characteristics of hereditary mixed polyposis to support testing are ill-defined. The clinicopathologic findings of ten HMPS patients with confirmed germline SCG5-GREM1 duplication were reviewed...
October 27, 2016: Human Pathology
https://www.readbyqxmd.com/read/27920699/asymptomatic-multiple-lymphomatous-polyposis-identified-during-staging-bidirectional-endoscopy-of-mantle-cell-lymphoma
#13
Sonja P Dawsey, Jason A Gregory, Alexander W Brown, Frances J Jones
Multiple lymphomatous polyposis (MLP) as an extranodal manifestation of mantle cell lymphoma (MCL) in the gastrointestinal tract is rare and not often reported in the literature. We describe the case of a 63-year-old female with asymptomatic MLP found during staging bidirectional endoscopy of MCL. The patient presented only with dyspnea, but was found on physical exam to have diffuse lymphadenopathy, and subsequent positron emission tomography (PET) CT showed extensive lymph node adenopathy consistent with lymphoma...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27918452/light-dark-shifting-promotes-alcohol-induced-colon-carcinogenesis-possible-role-of-intestinal-inflammatory-milieu-and-microbiota
#14
Faraz Bishehsari, Abdulrahman Saadalla, Khashayarsha Khazaie, Phillip A Engen, Robin M Voigt, Brandon B Shetuni, Christopher Forsyth, Maliha Shaikh, Martha Hotz Vitaterna, Fred Turek, Ali Keshavarzian
BACKGROUND: Colorectal cancer (CRC) is associated with the modern lifestyle. Chronic alcohol consumption-a frequent habit of majority of modern societies-increases the risk of CRC. Our group showed that chronic alcohol consumption increases polyposis in a mouse mode of CRC. Here we assess the effect of circadian disruption-another modern life style habit-in promoting alcohol-associated CRC. METHOD: TS4Cre × adenomatous polyposis coli (APC)(lox468) mice underwent (a) an alcohol-containing diet while maintained on a normal 12 h light:12 h dark cycle; or (b) an alcohol-containing diet in conjunction with circadian disruption by once-weekly 12 h phase reversals of the light:dark (LD) cycle...
December 2, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27913199/the-involvement-of-m2-macrophage-polarization-inhibition-in-fenretinide-mediated-chemopreventive-effects-on-colon-cancer
#15
Rong Dong, Yanling Gong, Wen Meng, Meng Yuan, Hong Zhu, Meidan Ying, Qiaojun He, Ji Cao, Bo Yang
Clinical studies have shown that fenretinide (4-HPR) is an attractive chemopreventive agent for cancer treatment. However, to date, few studies have demonstrated the mechanism of the preventive effect of 4-HPR. In our current study, we revealed that 4-HPR could significantly suppress IL-4/IL-13 induced M2-like polarization of macrophages, which was demonstrated by the reduced expression of M2 surface markers, the down-regulation of M2 marker genes, and the inhibition of M2-like macrophages promoted angiogenesis...
November 30, 2016: Cancer Letters
https://www.readbyqxmd.com/read/27893197/importance-to-question-sinonasal-symptoms-and-to-perform-rhinoscopy-and-rhinomanometry-in-cystic-fibrosis-patients
#16
J M Bock, M Schien, C Fischer, L Naehrlich, M Kaeding, O Guntinas-Lichius, A Gerber, C Arnold, J G Mainz
OBJECTIVES: Cystic fibrosis (CF) patients almost regularly reveal sinonasal pathology. The purpose of this study was to assess association between objective and subjective measurements of sinonasal involvement comparing nasal airflow obtained by active anterior rhinomanometry (AAR), nasal endoscopic findings, and symptoms assessed with the Sino-Nasal Outcome Test-20 (SNOT-20). METHODS: Nasal cavities were explored by anterior rigid rhinoscopy and findings were compared to inspiratory nasal airflow measured by AAR to quantify nasal patency and subjective health-related quality of life in sinonasal disease obtained with the SNOT-20 questionnaire...
November 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27870730/cutaneous-sebaceous-lesions-in-a-patient-with-mutyh-associated-polyposis-mimicking-muir-torre-syndrome
#17
Denisa Kacerovska, Lubomir Drlik, Lenka Slezakova, Michal Michal, Jan Stehlik, Monika Sedivcova, Ladislav Hadravsky, Dmitry V Kazakov
A 76-year-old white male with a history of adenocarcinoma of the rectosigmoideum and multiple colonic polyps removed at the age of 38 and 39 years by an abdominoperitoneal amputation and total colectomy, respectively, presented with multiple whitish and yellowish papules on the face and a verrucous lesion on the trunk. The lesions were surgically removed during the next 3 years and a total of 13 lesions were investigated histologically. The diagnoses included 11 sebaceous adenomas, 1 low-grade sebaceous carcinoma, and 1 squamous cell carcinoma...
December 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27833394/two-cases-of-adenocarcinoma-occurring-in-sporadic-fundic-gland-polyps-observed-by-magnifying-endoscopy-with-narrow-band-imaging
#18
Kazumi Togo, Tetsuya Ueo, Hirotoshi Yonemasu, Hideho Honda, Tetsuya Ishida, Hiroshi Tanabe, Kenshi Yao, Akinori Iwashita, Kazunari Murakami
Gastric fundic gland polyps (FGPs) are common non-adenomatous gastric polyps arising from normal fundic mucosa without Helicobacter pylori (H. pylori) infection. Although systemic FGPs associated with familial adenomatous polyposis (FAP) often have dysplasia, there are few reports of dysplasia occurring in sporadic FGPs, especially when detected by magnifying endoscopy with narrow band imaging (ME-NBI). We experienced two cases of adenocarcinoma occurring in sporadic FGPs, and their ME-NBI findings were very useful for differentiating FGP with cancer from non-dysplastic FGP...
October 28, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27821077/a-case-series-of-intestinal-adenomatous-polyposis-of-unidentified-etiology-a-late-effect-of-irradiation
#19
Lisanne Sara Rigter, Frank G J Kallenberg, Barbara Bastiaansen, Theo A M van Os, Floor E van Leeuwen, Monique Esther van Leerdam, Evelien Dekker
BACKGROUND: In a large number of patients with multiple gastrointestinal adenomatous polyps, no causal germline mutation can be found. Non-genetic factors may contribute to the development of adenomatous polyps in these unexplained polyposis patients. In the development of gastrointestinal cancer, prior exposure to abdominal radiotherapy has been identified as such a factor, as it increases the gastrointestinal cancer risk in cancer survivors. A relationship of radiotherapy with intestinal polyposis, however, has not yet been described...
November 8, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27818810/familial-adenomatous-polyposis-manifesting-as-lactococcus-endocarditis-a-case-report-and-review-of-the-association-of-lactococcus-with-underlying-gastrointestinal-disease
#20
Taylor C Bazemore, Stacey A Maskarinec, Kahli Zietlow, Edward F Hendershot, John R Perfect
A 45-year-old male with a prosthetic aortic valve presented to the hospital with several months of generalized malaise. On admission, he was noted to have anemia of unclear etiology and subsequently became febrile with multiple blood cultures growing Lactococcus garvieae. Inpatient workup was concerning for infectious endocarditis (IE) secondary to Lactococcus. The patient was discharged home with appropriate antimicrobial therapy; however, he was readmitted for persistent, symptomatic anemia and underwent colonoscopy, which revealed innumerable colonic polyps consistent with Familial Adenomatous Polyposis (FAP) that was later confirmed with genetic testing...
2016: Case Reports in Infectious Diseases
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