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Familial polyposis

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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/28039328/outcome-of-24%C3%A2-years-national-surveillance-in-different-hereditary-colorectal-cancer-subgroups-leading-to-more-individualised-surveillance
#2
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/28035305/gardner-syndrome-associated-with-multiple-osteomas-intestinal-polyposis-and-epidermoid-cysts
#3
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
https://www.readbyqxmd.com/read/28028343/cribriform-morular-variant-of-papillary-thyroid-carcinoma-cytomorphology-differential-diagnosis-and-diagnostic-implications-in-patients-with-adenomatous-polyposis-coli
#4
Amarathunga Ah Priyani, Shamika T Opatha, Nisayuri W Gunathilake, Menaka Ds Lokuhetty
Cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC), which has a better prognosis, is seen mostly in the setting of familial adenomatous polyposis (FAP). The cytomorphology of CMV-PTC is diverse; hence, it could be mistaken for other thyroid neoplasms with bad prognostic outcome. This case is of a 24-year-old female diagnosed with polyposis coli found to have thyroid nodules at screening ultrasonography. Aspirated thyroid smears were hypercellular with epithelial cells arranged in monolayer sheets, papillae with discohesion, and spindling of cells at the edges, cribriform clusters, and cell morules...
October 2016: Journal of Cytology
https://www.readbyqxmd.com/read/28018803/neonatal-gardner-fibroma-leads-to-detection-of-familial-adenomatous-polyposis-two-case-reports
#5
Mattias Schäfer, Martina Kadmon, Wolfgang Schmidt, Irmgard Treiber, Ute Moog, Christian Sutter, Maximilian Stehr
Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated with APC gene mutations and therefore with familial adenomatous polyposis (FAP). So far there is only very limited literature on GF in the neonatal period. We present two children with GF diagnosed at birth and subsequent FAP with very different clinical courses. In one case, the disease led to extensive surgery of the thoracic wall and detection of FAP in the father with the need of immediate proctocolectomy...
December 2016: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28012326/a-case-report-of-desmoid-tumour-a-forgotten-aspect-of-fap
#6
Sarah Xuereb, Rachel Xuereb, Chiara Buhagiar, Jonathan Gauci, Claude Magri
INTRODUCTION: Desmoid tumours are locally aggressive tumours which are common in Familial Adenomatous Polyposis (FAP). PRESENTATION OF CASE: A 20-year old Familial Adenomatous Polyposis (FAP) patient presented with abdominal pain and distention. Abdominal imaging showed small bowel obstruction and hydronephrosis due to a pelvic mass. This mass showed significant enlargement on repeat imaging, and a diagnostic biopsy confirmed desmoid tumour. The mass was deemed unresectable and he was initially started on sulindac and raloxifene...
December 1, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28010732/the-effect-of-a-germline-mutation-in-the-apc-gene-on-%C3%AE-catenin-in-human-embryonic-stem-cells
#7
Nofar Yedid, Yael Kalma, Mira Malcov, Ami Amit, Revital Kariv, Michal Caspi, Rina Rosin-Arbesfeld, Dalit Ben-Yosef
BACKGROUND: Most cases of colorectal cancer (CRC) are initiated by inactivation mutations in the APC gene, which is a negative regulator of the Wnt-β-catenin pathway. Patients with familial adenomatous polyposis (FAP) inherit a germline mutation in one APC allele, and loss of the second allele leads to the development of polyps that will turn malignant if not removed. It is not fully understood which molecular mechanisms are activated by APC loss and when the loss of the second APC allele occurs...
December 23, 2016: BMC Cancer
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/27996184/anastomotic-stenosis-after-coloanal-colorectal-and-ileoanal-anastomosis-what-is-the-best-management
#9
Axel Kraenzler, Léon Maggiori, Olivier Pittet, Mohammad Saleh Alyami, Justine Prost À la Denise, Yves Panis
AIM: To assess the results of treatment for colorectal (CRA), coloanal (CAA), or ileal pouch-anal (IPAA) anastomotic stenosis (AS). METHODS: All patients operated on for AS from 1995 to 2014 were included. Success was defined as the absence of additional surgical procedure for AS during 12 months after the last procedure and the absence of a stoma at the end of follow-up. RESULTS: Fifty consecutive patients presenting AS after CRA (n=16, 32%), CAA (n=18, 36%), or IPAA (n=16, 32%), performed for colorectal cancer (n=28, 56%), familial adenomatous polyposis (n=5, 10%), inflammatory bowel disease (n=8, 16%), diverticulitis (n=4, 8%), benign colorectal neoplasia (n=3, 6%) or other (n=2, 4%) underwent a total of 99 procedures including digital (n=14, 14%), instrumental (n=38, 38%), or endoscopic dilatation (n=5, 5%), transanal AS stricturoplasty (n=9, 10%), transanal circular stapler resection (n=11, 11%), or transabdominal redo-anastomosis (n=22, 22%)...
December 20, 2016: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/27991685/massive-gastric-juvenile-type-polyposis-a-clinicopathologic-analysis-of-22-cases
#10
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/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/27989362/complications-in-colorectal-surgery
#12
Jason S Frischer, Beth Rymeski
Colorectal pediatric surgery is a diverse field that encompasses many different procedures. The pullthrough for Hirschsprung disease, the posterior sagittal anorectoplasty for anorectal malformations including complex cloaca reconstructions and the ileal pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis present some of the most technically challenging procedures pediatric surgeons undertake. Many children prevail successfully following these surgical interventions, however, a small number of patients suffer from complications following these procedures...
December 2016: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/27959889/childhood-neuroendocrine-tumours-a-descriptive-study-revealing-clues-for-genetic-predisposition
#13
I J Diets, I D Nagtegaal, J Loeffen, I de Blaauw, E Waanders, N Hoogerbrugge, M C J Jongmans
BACKGROUND: Neuroendocrine tumours (NETs) are rare in children and limited data are available. We aimed to specify tumour and patient characteristics and to investigate the role of genetic predisposition in the aetiology of paediatric NETs. METHODS: Using the Dutch Pathology Registry PALGA, we collected patient- and tumour data of paediatric NETs in the Netherlands between 1991 and 2013 (N=483). RESULTS: The incidence of paediatric NETs in the Netherlands is 5...
January 17, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/27957667/clinical-cancer-genetics-disparities-among-latinos
#14
REVIEW
Marcia Cruz-Correa, Julyann Pérez-Mayoral, Julie Dutil, Miguel Echenique, Rafael Mosquera, Keila Rivera-Román, Sharee Umpierre, Segundo Rodriguez-Quilichini, Maria Gonzalez-Pons, Myrta I Olivera, Sherly Pardo
The three major hereditary cancer syndromes in Latinos (Hereditary Breast and Ovarian Cancer, Familial Adenomatous Polyposis and Lynch Syndrome) have been shown to exhibit geographic disparities by country of origin suggesting admixture-based disparities. A solid infrastructure of clinical genetics geared towards diagnosis and prevention could aid in reducing the mortality of these cancer syndromes in Latinos. Currently, clinical cancer genetic services in Latin America are scarce. Moreover, limited studies have investigated the mutational spectrum of these cancer syndromes in Latinos resulting in gaps in personalized medicine affecting diagnosis, treatment and prevention...
December 12, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27943576/predicting-difficulty-in-extending-the-ileal-pouch-to-the-anus-in-restorative-proctocolectomy-investigation-of-a-simple-predictive-method-using-computed-tomography
#15
G Ohira, H Miyauchi, K Narushima, A Kagaya, Y Mutou, H Saitou, K Hayano, H Matsubara
AIM: This study aimed to assess the ability of preoperative axial computed tomography (CT) to predict surgical difficulty in bringing the ileal pouch to the level of the anus during restorative proctocolectomy (RPC). METHOD: Patients who underwent RPC with an ileal pouch-anal anastomosis (or ileal pouch-anal canal anastomosis) in our institution between January 2008 and April 2014 were enrolled. The patients were divided into two groups, including those in whom CT indicated potential difficulty in extending the pouch downwards (extension difficult (ED) group) and patients with no CT evidence of potential difficulty (normal group)...
January 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/27939356/the-origins-of-rimmed-vacuoles-and-granulovacuolar-degeneration-bodies-are-associated-with-the-wnt-signaling-pathway
#16
Yukari Murata-Shinozaki, Tetsuya Takahashi, Tomoyasu Matsubara, Hirofumi Maruyama, Yuishin Izumi, Masayasu Matsumoto
Inclusion-body myositis (IBM) and Alzheimer's disease (AD) are biochemically characterized by the presence of aggregated β-amyloid protein and tau protein. In addition, both diseases are pathologically characterized by vacuolar changes, including rimmed vacuoles (RVs) in IBM and granulovacuolar degeneration (GVD) in AD. Previously, we demonstrated that RVs and GVD bodies are associated with a set of common molecules, leading us to speculate that both RVs and GVD bodies originate from similar structures on the plasma membrane of muscle cells and neuronal cells, namely, the neuromuscular junction (NMJ) and the postsynaptic spine especially in terms of Wnt signaling pathway...
December 7, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27928465/gene-expression-and-pathway-analysis-of-ctnnb1-in-cancer-and-stem-cells
#17
Shihori Tanabe, Takeshi Kawabata, Kazuhiko Aoyagi, Hiroshi Yokozaki, Hiroki Sasaki
AIM: To investigate β-catenin (CTNNB1) signaling in cancer and stem cells, the gene expression and pathway were analyzed using bioinformatics. METHODS: The expression of the catenin β 1 (CTNNB1) gene, which codes for β-catenin, was analyzed in mesenchymal stem cells (MSCs) and gastric cancer (GC) cells. Beta-catenin signaling and the mutation of related proteins were also analyzed using the cBioPortal for Cancer Genomics and HOMology modeling of Complex Structure (HOMCOS) databases...
November 26, 2016: World Journal of Stem Cells
https://www.readbyqxmd.com/read/27927180/oral-perfluorooctane-sulfonate-pfos-lessens-tumor-development-in-the-apc-min-mouse-model-of-spontaneous-familial-adenomatous-polyposis
#18
Jeffrey Wimsatt, Meghan Villers, Laurel Thomas, Stacey Kamarec, Caitlin Montgomery, Leo W Y Yeung, Yanqing Hu, Kim Innes
BACKGROUND: Colorectal cancer is the second most common cause of cancer deaths for both men and women, and the third most common cause of cancer in the U.S. Toxicity of current chemotherapeutic agents for colorectal cancer, and emergence of drug resistance underscore the need to develop new, potentially less toxic alternatives. Our recent cross-sectional study in a large Appalachian population, showed a strong, inverse, dose-response association of serum perfluorooctane sulfonate (PFOS) levels to prevalent colorectal cancer, suggesting PFOS may have therapeutic potential in the prevention and/or treatment of colorectal cancer...
December 8, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27921062/long-qt-syndrome-and-duodenal-ampullary-adenoma-a-new-association
#19
F N U Asad-Ur-Rahman, Laura Hughes, Muhammad Talha Khan, Muhammad Khalid Hasan, Irteza Inayat
KCNQ1 gene mutation has a well-known association with long QT syndrome (LQTS). However, recent studies suggest that it may be implicated in intestinal neoplasia. We present a 27-year-old Hispanic man with a known history of LQTS secondary to KCNQ1 mutation, who presented with painless jaundice. Endoscopic retrograde pancreatic cholangiography revealed a prominent ampulla, with histology consistent with ampullary adenoma with high-grade dysplasia. Further endoscopic studies did not suggest familial adenomatous polyposis...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#20
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
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