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Family adenomatous polyposis

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https://www.readbyqxmd.com/read/28705784/laparoscopic-proctocolectomy-with-ileal-j-pouch-anal-anastomosis-in-children
#1
Ufuk Ateş, Ergun Ergün, Gülnur Göllü, Gönül Küçük, Aydın Yağmurlu
BACKGROUND/AIMS: We aimed to evaluate postoperative fecal incontinence scales of children who underwent laparoscopic proctocolectomy and ileal J-pouch anastomosis for familial adenomateous polyposis (FAP) and inflammatory bowel disease (IBD). MATERIALS AND METHODS: Fecal incontinence scores were collected at 3 months post-surgery. A retrospective chart review was also performed to obtain the demographic data and operative technical details. RESULTS: The postoperative Wexner Fecal Incontinence Score was 0 in 9 of 11 patients and satisfactory in the remaining two...
July 13, 2017: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/28694653/attenuated-adenomatous-polyposis-of-the-large-bowel-present-and-future
#2
EDITORIAL
Luca Roncucci, Monica Pedroni, Francesco Mariani
Attenuated adenomatous polyposis (AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis (FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations...
June 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28693181/distinct-dna-methylation-alterations-are-associated-with-cribriform-architecture-and-intraductal-carcinoma-in-gleason-pattern-4-prostate-tumors
#3
Ekaterina Olkhov-Mitsel, Farshid Siadat, Ken Kron, Liyang Liu, Andrea J Savio, John Trachtenberg, Neil Fleshner, Theodorus van der Kwast, Bharati Bapat
The aim of the present study was to explore DNA methylation aberrations in association with cribriform architecture and intraductal carcinoma (IDC) of the prostate, as there is robust evidence that these morphological features are associated with aggressive disease and have significant clinical implications. Herein, the associations of a panel of seven known prognostic DNA methylation biomarkers with cribriform and IDC features were examined in a series of 91 Gleason pattern (GP) 4 tumors derived from Gleason score 7 radical prostatectomies...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28681123/estrogen-receptor-%C3%AE-as-a-prognostic-marker-of-tumor-progression-in-colorectal-cancer-with-familial-adenomatous-polyposis-and-sporadic-polyps
#4
Paulo Roberto Stevanato Filho, Samuel Aguiar Júnior, Maria Dirlei Begnami, Fábio de Oliveira Ferreira, Wilson Toshihiko Nakagawa, Ranyell Matheus Sobreira Batista Spencer, Tiago Santoro Bezerra, Philip Edward Boggiss, Ademar Lopes
The incidence of colorectal cancer (CRC) is lower in women than in men, and sex steroids can be considered contributing factors because oral contraception usage and estrogen replacement therapy are associated with decreased risk. Conversely, colorectal polyp development in familial adenomatous polyposis (FAP) begins during puberty. The objectives were to evaluate the relationship between the expression of these hormone receptors and adenoma-carcinoma progression, CRC stage and overall survival. We studied 120 A...
July 5, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28668823/desmoid-tumors-in-familial-adenomatous-polyposis
#5
REVIEW
Maria Laura DE Marchis, Francesco Tonelli, Davide Quaresmini, Domenica Lovero, David Della-Morte, Franco Silvestris, Fiorella Guadagni, Raffaele Palmirotta
Familial adenomatous polyposis (FAP) is a cancer syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene. It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation. Among associated lesions in FAP, desmoid tumors represent a common possible life-threatening condition that requires special attention. They are rare tumors occurring with a particularly high incidence in FAP, especially after surgery. In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids...
July 2017: Anticancer Research
https://www.readbyqxmd.com/read/28662997/next-generation-immunohistochemistry-emerging-substitutes-to-genetic-testing
#6
REVIEW
Juliana Andrici, Anthony J Gill, Jason L Hornick
The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes...
June 27, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28655084/-therapeutic-effect-of-a-new-hybrid-technique-which-combined-laparoscopic-method-and-abdominal-repair-for-parastomal-hernia-repair
#7
W Luo, Y Wang, X Duan
Objective: To investigate the safety and effectiveness of a new hybrid technique which combined laparoscopic method and abdominal repair (Dual Lap) for parastomal herniarepair. Methods: The clinical and follow-up data of 27 cases who accepted Dual Lap procedure performed at Department of Hernia and Abdominal Wall Surgery, Wuhan Central Hospital, Tongji Medical College of Huazhong University from January 2010 to January 2015 were analyzed retrospectively. The data included 22 male patients and 5 female patients with mean age of 54 years...
July 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28644590/mutyh-associated-polyposis-the-irish-experience
#8
T P McVeigh, M Duff, C Carroll, R O'Shea, L Bradley, M Farrell, D J Gallagher, C Clabby, A J Green
MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH"...
December 12, 2016: Irish Medical Journal
https://www.readbyqxmd.com/read/28633443/nod2-genetic-variants-predispose-one-of-two-familial-adenomatous-polyposis-siblings-to-pouchitis-through-microbiome-dysbiosis
#9
Kathleen M Schieffer, Justin R Wright, Leonard R Harris, Sue Deiling, Zhaohai Yang, Regina Lamendella, Gregory S Yochum, Walter A Koltun
Background and Aims: Individuals with familial adenomatous polyposis (FAP) may undergo a total proctocolectomy with ileal pouch-anal anastomosis (IPAA) to surgically treat their disease. Inflammation of the ileal pouch, termed pouchitis, is uncommon in FAP patients but prevalent in patients who received IPAA for ulcerative colitis, a type of inflammatory bowel disease (IBD). Methods and Results: We report on two FAP siblings, living in the same household, who underwent IPAA surgery within one week of each other...
June 19, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28628110/colonic-organoids-derived-from-human-induced-pluripotent-stem-cells-for-modeling-colorectal-cancer-and-drug-testing
#10
Miguel Crespo, Eduardo Vilar, Su-Yi Tsai, Kyle Chang, Sadaf Amin, Tara Srinivasan, Tuo Zhang, Nina H Pipalia, Huanhuan Joyce Chen, Mavee Witherspoon, Miriam Gordillo, Jenny Zhaoying Xiang, Frederick R Maxfield, Steven Lipkin, Todd Evans, Shuibing Chen
With the goal of modeling human disease of the large intestine, we sought to develop an effective protocol for deriving colonic organoids (COs) from differentiated human embryonic stem cells (hESCs) or induced pluripotent stem cells (iPSCs). Extensive gene and immunohistochemical profiling confirmed that the derived COs represent colon rather than small intestine, containing stem cells, transit-amplifying cells, and the expected spectrum of differentiated cells, including goblet and endocrine cells. We applied this strategy to iPSCs derived from patients with familial adenomatous polyposis (FAP-iPSCs) harboring germline mutations in the WNT-signaling-pathway-regulator gene encoding APC, and we generated COs that exhibit enhanced WNT activity and increased epithelial cell proliferation, which we used as a platform for drug testing...
July 2017: Nature Medicine
https://www.readbyqxmd.com/read/28591746/short-stature-homeobox-2-methylation-as-a-potential-noninvasive-biomarker-in-bronchial-aspirates-for-lung-cancer-diagnosis
#11
Shumin Ni, Meng Ye, Tao Huang
Gene methylation has been frequently observed in lung cancer. However, the use of methylated genes in bronchial aspirates of patients with lung cancer remains to be evaluated. The purpose of this study was to analyze whether the detection of genes with aberrant promoter methylation can be useful noninvasive biomarkers in bronchial aspirates from lung cancer. We found that the methylation status of the cyclin-dependent kinase inhibitor 2A (P16), Ras association domain family 1 isoform (RASSF1A), adenomatous polyposis coli (APC) and short stature homeobox 2 (SHOX2) genes was significantly correlated with lung cancer in bronchial aspirates...
May 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28591553/familial-adenomatous-polyposis-registry-in-czech-republic-history-present-and-future
#12
Jiří Cyrany
No abstract text is available yet for this article.
2017: Acta Medica (Hradec Králové)
https://www.readbyqxmd.com/read/28588785/sporadic-giant-intra-abdominal-desmoid-tumor-a-radiological-case-report
#13
Karla Kovačević, Dragica Obad-Kovačević, Jelena Popić-Ramač
Desmoid tumor (DT) is a locally invasive form of fibromatosis, comprising only 0.03% of all tumors. DTs occur more frequently in patients with familial adenomatous polyposis and Gardner's syndrome, as intra-abdominal or anterior abdominal wall tumors, whereas sporadic DTs are more likely to be extra-abdominal (only 5% of sporadic DTs are intra-abdominal). There is also an association of DTs with prior trauma, surgery, estrogen exposure and childbirth. Imaging studies, such as computed tomography (CT) and magnetic resonance imaging (MRI) are used for preoperative diagnosis and for the planning of the surgery...
June 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28570749/comparison-of-sporadic-and-fap-associated-desmoid-type-fibromatoses
#14
Laura Koskenvuo, Ari Ristimäki, Anna Lepistö
BACKGROUND AND OBJECTIVES: Desmoid-type fibromatosis is a rare disease of which 7.5-16% have been reported to be related to familial adenomatous polyposis (FAP). We sought to compare the characteristics and treatment of sporadic and FAP-related desmoid-type fibromatoses. METHODS: Altogether 220 patients were included in the study after receiving a diagnosis of desmoid-type fibromatosis by the Pathology Department of Helsinki University Hospital, with adequate follow-up...
June 1, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28557592/ameloblastic-fibro-odontoma-of-the-maxilla-in-a-pierre-robin-sequence-patient
#15
Kenneth Kufta, Steve Kang, Faizan Alawi, Anna Moran, Neeraj Panchal
INTRODUCTION: Pierre Robin sequence (PRS) is a rare disorder classically observed as a triad of features including micrognathia, glossoptosis, and upper airway obstruction. It is associated with a syndrome in about 60% of cases. While odontogenic tumors are common findings in patients with familial adenomatous polyposis and nevoid basal cell carcinoma syndromes, PRS has not been found to be consistently associated with any tumors of the jaw. CASE REPORT: The current report aims to describe a patient with PRS who presented with an extensive ameloblastic fibro-odontoma (AFO) of the maxilla...
May 30, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28555354/contiguous-gene-deletion-of-chromosome-2p16-3-p21-as-a-cause-of-lynch-syndrome
#16
Erin E Salo-Mullen, Patricio B Lynn, Lu Wang, Michael Walsh, Anuradha Gopalan, Jinru Shia, Christina Tran, Fung Ying Man, Sean McBride, Mark Schattner, Liying Zhang, Martin R Weiser, Zsofia K Stadler
Lynch syndrome is an autosomal dominant condition caused by pathogenic mutations in the DNA mismatch repair (MMR) genes. Although commonly associated with clinical features such as intellectual disability and congenital anomalies, contiguous gene deletions may also result in cancer predisposition syndromes. We report on a 52-year-old male with Lynch syndrome caused by deletion of chromosome 2p16.3-p21. The patient had intellectual disability and presented with a prostatic adenocarcinoma with an incidentally identified synchronous sigmoid adenocarcinoma that exhibited deficient MMR with an absence of MSH2 and MSH6 protein expression...
May 29, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28551651/complete-reversion-of-familial-adenomatous-polyposis-phenotype-associated-with-tacrolimus-and-mycophenolate-mofetil-treatment-following-kidney-transplantation
#17
Vered Pinsk, Ilia Pinsk, Galina Ling, Baruch Yerushalmi, Lidia Osyntsov, Eduard Ling
Numerous germline mutations in the adenomatous polyposis coli (APC) tumor-suppressor gene are responsible for development of multiple adenomatous colorectal polyps with their inevitable progression to cancer. Multiple attempts at dietary and pharmacological prevention of colorectal carcinoma development in patients with familial adenomatous polyposis (FAP) have provided conflicting results. Immunosuppressive treatment with tacrolimus is known to be associated with an increased risk of malignancy and should be avoided in patients with high propensity for development of neoplasia...
June 2017: Anticancer Research
https://www.readbyqxmd.com/read/28546515/the-interaction-between-the-wnt-%C3%AE-catenin-signaling-cascade-and-pkg-activation-in-cancer
#18
Kevin Lee, Gary A Piazza
The activation of the Wnt/β-catenin signaling cascade has been well studied and documented in colorectal cancer (CRC). The long-term use of non-steroidal anti-inflammatory drugs (NSAIDs) has been shown to reduce the incidence and risk of death from CRC in numerous epidemiological studies. The NSAID sulindac has also been reported to cause regression of precancerous adenomas in individuals with familial adenomatous polyposis who are at high risk of developing CRC. The mechanism responsible for cancer chemopreventive activity of NSAIDs is not well understood but may be unrelated to their cyclooxygenase inhibitory activity...
April 6, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28533537/novel-mutations-and-phenotypic-associations-identified-through-apc-mutyh-nthl1-pold1-pole-gene-analysis-in-indian-familial-adenomatous-polyposis-cohort
#19
Nikhat Khan, Anuja Lipsa, Gautham Arunachal, Mukta Ramadwar, Rajiv Sarin
Colo-Rectal Cancer is a common cancer worldwide with 5-10% cases being hereditary. Familial Adenomatous Polyposis (FAP) syndrome is due to germline mutations in the APC or rarely MUTYH gene. NTHL1, POLD1, POLE have been recently reported in previously unexplained FAP cases. Unlike the Caucasian population, FAP phenotype and its genotypic associations have not been widely studied in several geoethnic groups. We report the first FAP cohort from South Asia and the only non-Caucasian cohort with comprehensive analysis of APC, MUTYH, NTHL1, POLD1, POLE genes...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28528517/loss-of-msh2-and-msh6-due-to-heterozygous-germline-defects-in-msh3-and-msh6
#20
Monika Morak, Sarah Käsbauer, Martina Kerscher, Andreas Laner, Anke M Nissen, Anna Benet-Pagès, Hans K Schackert, Gisela Keller, Trisari Massdorf, Elke Holinski-Feder
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. High microsatellite instability (MSI-H) and loss of MMR protein expression in tumours reflecting a defective MMR are indicators for LS, as well as a positive family history of early onset CRC. MSH2 and MSH6 form a major functional heterodimer, and MSH3 is an alternative binding partner for MSH2...
May 20, 2017: Familial Cancer
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