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Family adenomatous polyposis

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https://www.readbyqxmd.com/read/29901124/a-novel-apc-mutation-identified-in-a-large-chinese-family-with-familial-adenomatous-polyposis-and-a-brief-literature-review
#1
Minghui Pang, Yijun Liu, Xiaolin Hou, Jialiang Yang, Xuelai He, Nengyi Hou, Peixi Liu, Luo Liang, Junwen Fu, Kang Wang, Zimeng Ye, Bo Gong
Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. Among the 29 family members, 12 were diagnosed of FAP...
June 5, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29882764/molecular-and-pathological-features-of-gastric-cancer-in-lynch-syndrome-and-familial-adenomatous-polyposis
#2
Mara Fornasarig, Raffaella Magris, Valli De Re, Ettore Bidoli, Vincenzo Canzonieri, Stefania Maiero, Alessandra Viel, Renato Cannizzaro
Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are autosomal dominant hereditary diseases caused by germline mutations leading to the development of colorectal cancer. Moreover, these mutations result in the development of a spectrum of different tumors, including gastric cancers (GCs). Since the clinical characteristics of GCs associated with LS and FAP are not well known, we investigated clinical and molecular features of GCs occurring in patients with LS and FAP attending our Institution. The Hereditary Tumor Registry was established in 1994 at the Department of Oncologic Gastroenterology, CRO Aviano National Cancer Institute, Italy...
June 6, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29878953/robotic-platform-for-an-ipaa
#3
Amy L Lightner, Scott R Kelley, David W Larson
INTRODUCTION: An IPAA is the preferred operative approach for restoration of intestinal continuity in patients with ulcerative colitis and familial adenomatous polyposis. As minimally invasive approaches have become more widely adopted, their use in IPAA has also become increasingly commonplace. Laparoscopy has the same limitations during the proctectomy portion as seen in operations for rectal cancer, including dissection in the mid-to-lower rectum attributed to angles created by bony confines of the deep pelvis and lack of visibility when constructing the anastomosis...
July 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29875617/identity-community-and-care-in-online-accounts-of-hereditary-colorectal-cancer-syndrome
#4
Emily Ross, Tineke Broer, Anne Kerr, Sarah Cunningham-Burley
Sociological literature has explored how shifts in the point at which individuals may be designated as diseased impact upon experiences of ill health. Research has shown that experiences of being genetically "at risk" are shaped by and shape familial relations, coping strategies, and new forms of biosociality. Less is known about how living with genetic risk is negotiated in the everyday and over time, and the wider forms of identity, communities and care this involves. This article explores these arrangements drawing on online bloggers' accounts of Familial Adenomatous Polyposis (FAP)...
2018: New Genetics and Society
https://www.readbyqxmd.com/read/29864420/natural-history-of-colonic-polyposis-in-young-patients-with-familial-adenomatous-polyposis
#5
Shashank Sarvepalli, Carol A Burke, Marc Monachese, Brandie H Leach, Lisa Laguardia, Margaret O'Malley, Matthew F Kalady, James M Church
BACKGROUND AND AIMS: Proctocolectomy prevents colorectal cancer in familial adenomatous polyposis (FAP). Colorectal polyp progression is one of the indications for surgery. No data exist regarding the natural history of colorectal polyposis in young patients with FAP. This study examined the rate of polyposis progression and factors associated with it. METHODS: FAP patients <30 years old and with ≥2 colonoscopies with the first colonoscopy after year 2000 were identified...
June 1, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29857942/gastro-intestinal-surgery-and-fertility
#6
T Hor
In France, 10 to 15% of couples in the overall population have a fertility problem. Preservation of sexual and reproductive function should be a major concern for all patients capable of procreation who undergo treatment for gastro-intestinal disease. The gastro-intestinal diseases most often responsible for fertility disorders include chronic inflammatory diseases, intestinal cancer and hereditary diseases, such as the Lynch syndrome and familial adenomatous polyposis. Obesity is responsible for a 20% loss of fertility but the effects of bariatric surgery on fertility are controversial...
May 29, 2018: Journal of Visceral Surgery
https://www.readbyqxmd.com/read/29848681/mycophenolate-mofetil-alone-and-in-combination-with-tacrolimus-inhibits-the-proliferation-of-ht-29-human-colonic-adenocarcinoma-cell-line-and-might-interfere-with-colonic-tumorigenesis
#7
Galina Ling, Sergio Lamprecht, George Shubinsky, Lidia Osyntsov, Baruch Yerushalmi, Ilya Pinsk, Vered Pinsk, Eduard Ling
BACKGROUND/AIM: Familial adenomatous polyposis (FAP) was found to be completely reversed in a patient treated with mycophenolate mofetil (MMF) and tacrolimus following kidney transplantation. In this preliminary study, we assessed whether MMF and tacrolimus alone or in combination interfere with the cell cycle and proliferation in a human colonic adenocarcinoma cell line and in the colonic polyps of the patient with FAP. MATERIALS AND METHODS: Human colonic adenocarcinoma HT-29 cells were treated with tacrolimus and MMF alone and in combination at different concentrations...
June 2018: Anticancer Research
https://www.readbyqxmd.com/read/29845239/identification-of-a-mutl%C3%A2-homolog-1-mutation-via-whole%C3%A2-exome-sequencing-in-a-chinese-family-with-gardner-syndrome
#8
Zilan Lv, Chuan Wang, Lixiang Wu, Bianqin Guo, Darong Zhang, Yang Zhang, Shengxing Huang, Minglin Ou
Gardner syndrome (GS), a variant of familial adenomatous polyposis, is a rare genetic disorder with autosomal dominant inheritance, characterized by the presence of multiple intestinal polyps, multiple osteomas, dental abnormalities and soft tissue tumors. To date, only a few gene mutations have been demonstrated to be responsible for GS. To explore potential unknown mutations responsible for GS, the present study used whole‑exome sequencing of two affected individuals from a family with GS to identify a candidate mutation in mutL‑homolog (MLH)1...
May 23, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29802852/efficacy-and-safety-of-curcumin-in-treatment-of-intestinal-adenomas-in-patients-with-familial-adenomatous-polyposis
#9
Marcia Cruz-Correa, Linda M Hylind, Jessica Hernandez Marrero, Marianna L Zahurak, Tracy Murray-Stewart, Robert A Casero, Elizabeth A Montgomery, Christine Iacobuzio-Donahue, Lodewijk A Brosens, G Johan Offerhaus, Asad Umar, Luz M Rodriguez, Francis M Giardiello
BACKGROUND & AIMS: Familial adenomatous polyposis is an autosomal dominant disorder characterized by development of hundreds of colorectal adenomas and eventually colorectal cancer. Oral administration of the spice curcumin has been followed by regression of polyps in patients with this disorder. We performed a double-blind, randomized trial to determine the safety and efficacy of curcumin in patients with familial adenomatous polyposis. METHODS: Our study comprised 44 patients with familial adenomatous polyposis (18 to 85 years old) who had either not undergone colectomy or had undergone colectomy with ileorectal anastomosis or ileal anal pouches and had 5 or more intestinal adenomatous polyps, enrolled in Puerto Rico or the United States from September 2011 through November 2016...
May 23, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29791426/-familiar-adenomatous-polyposis-report-of-2-cases
#10
Luis Vásquez Elera, Patricia Guzman Rojas, Manuel Sánchez Herrera, Víctor Prado, Carlos García Encinas, Eduar Albán Bravo Paredes, Alejandro Bussalleu
Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of theAPC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy...
January 2018: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/29789650/use-of-dna-flow-cytometry-in-the-diagnosis-risk-stratification-and-management-of-gastric-epithelial-dysplasia
#11
Kwun Wah Wen, Peter S Rabinovitch, Danning Huang, Aras N Mattis, Gregory Y Lauwers, Won-Tak Choi
The natural history of gastric epithelial dysplasia and the consequential surveillance strategies are not well defined in the West. To date, the diagnosis relies on morphology, and no reliable adjunct methods, either immunohistochemical or molecular, have reproducibly been able to confirm the diagnosis and/or risk stratify gastric epithelial dysplasia. Yet, such a tool would be useful in confirming the diagnosis, and developing objective and rational surveillance guidelines. DNA flow cytometry was performed using formalin-fixed paraffin-embedded gastric tissue from 23 cases of high-grade dysplasia and 38 cases of low-grade dysplasia...
May 22, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29787362/j-pouch-imaging-findings-surgical-variations-natural-history-and-common-complications
#12
Joshua D Reber, John M Barlow, Amy L Lightner, Shannon P Sheedy, David H Bruining, Christine O Menias, Joel G Fletcher
Ileal pouch-anal anastomosis, or J pouch, surgery has become the procedure of choice for treatment of medically refractory ulcerative colitis and familial adenomatous polyposis. Overall, this operation is associated with a low rate of postoperative morbidity and good long-term function. However, when complications develop, there is a heavy reliance on imaging to facilitate an accurate diagnosis. Reported postoperative complication rates range from 5% to 35%. Complications generally can be categorized as structural, inflammatory, or neoplastic conditions...
May 25, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29785019/cribriform-morular-variant-of-thyroid-carcinoma-a-neoplasm-with-distinctive-phenotype-associated-with-the-activation-of-the-wnt-%C3%AE-catenin-pathway
#13
REVIEW
José Manuel Cameselle-Teijeiro, Diego Peteiro-González, Javier Caneiro-Gómez, María Sánchez-Ares, Ihab Abdulkader, Catarina Eloy, Miguel Melo, Isabel Amendoeira, Paula Soares, Manuel Sobrinho-Simões
Cribriform-morular variant of thyroid carcinoma is classically associated with familial adenomatous polyposis but, it can also occur as a sporadic neoplasm. This neoplasm is much more frequently observed in women than in men (ratio of 61:1). In familial adenomatous polyposis patients, tumors are generally multifocal and/or bilateral (multinodular appearance), whereas in the sporadic cases tumors tend to occur as single nodules. The tumors are well delimited, and characteristically show a blending of follicular, cribriform, papillary, trabecular, solid, and morular patterns...
May 21, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29773837/microbial-networking-in-cancer-when-two-toxins-collide
#14
EDITORIAL
Sarah Tomkovich, Christian Jobin
A recent study by Dejea et al. has demonstrated that two enterotoxigenic bacteria frequently associated with sporadic colorectal cancer, Bacteroides fragilis and pks+ Escherichia coli, are found together in biofilms on tissue from patients with familial adenomatous polyposis. In preclinical mouse models, these two bacteria and their corresponding toxins work synergistically to promote colon cancer.
May 18, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29771800/left-sided-dominance-of-early-onset-colorectal-cancers-a-rationale-for-screening-flexible-sigmoidoscopy-in-the-young
#15
Lior Segev, Matthew F Kalady, James M Church
BACKGROUND: National databases show a recent significant increase in the incidence of colorectal cancer in people younger than 50. With current recommendations to begin average-risk screening at age 50, these patients do not have the opportunity to be screened. We hypothesized that most of the cancers among the young would be left sided, which would create an opportunity for screening the young by flexible sigmoidoscopy. OBJECTIVE: This study aims to analyze the anatomic distribution of sporadic colorectal cancers in patients under the age of 50...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29768363/ex-vivo-resection-and-intestinal-autotransplantation-for-a-large-mesenteric-desmoid-tumor-secondary-to-familial-adenomatous-polyposis-a-case-report-and-literature-review
#16
Chao Cheng, Shuang Guo, Dakinah Eastman G B Kollie, Wanli Zhang, Jun Xiao, Jun Liu, Xiaoming Lu, Yong Xiao
RATIONALE: The mesenteric desmoid tumor requires special attention and the most demanding treatment. PATIENT CONCERNS: Here we present a rare case of a large mesenteric desmoid tumor secondary to familial adenomatous polyposis (FAP) in a 34-year-old man accepted the ex vivo resection, and intestinal autotransplantation. DIAGNOSES: A 34-year-old man was referred to our department with a 6-year history of intermittent hematochezia without any other discomfort after undergoing partial colectomy in February 2013, and 5 endoscopic mucosal resections of colon polyps between May 2012 and July 2015 due to pathological diagnosis of FAP...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29751773/an-unusual-finding-in-a-desmoid-type-fibromatosis-of-the-pancreas-a-case-report-and-review-of-the-literature
#17
Joseph Clarence Torres, Chen Xin
BACKGROUND: Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rare subgroup, accounting for approximately 5% of desmoid-type fibromatoses. Although the etiology is unknown, some risk factors include trauma, surgery, family history of desmoid tumor, pregnancy, use of contraceptives, genetic mutation, and familial adenomatous polyposis or Gardner syndrome...
May 12, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29736107/sigmoid-colon-perforation-mimics-a-tuboovarian-absces
#18
Cemile Dayangan Sayan, Mahmut Ilkin Yeral, Zehra Sema Ozkan, Gokhan Karaca, Nese Asal, Oktay Aydın, Nevin Sagsoz
Introduction: An adnexal mass may be diagnosed after a routine pelvic ultrasonographic examination or an emergent hospital admission due to rupture of ectopic pregnancy, adnexal torsion or rupture of tuboovarian abscess. It is necessary to evaluate the origin of the mass initially and to classify patients who need further evaluation and treatment for an urgent condition. Case presentation: We report a case of sigmoid colon rupture due to sigmoid colon adenocarcinoma presenting as acute abdomen with left adnexal mass in a 28 years old woman...
April 2018: Medical Archives
https://www.readbyqxmd.com/read/29720902/translational-research-in-familial-colorectal-cancer-syndromes
#19
REVIEW
Molly M Ford
Growing knowledge of inherited colorectal cancer syndromes has led to better surveillance and better care of this subset of patients. The most well-known entities, including Lynch syndrome and familial adenomatous polyposis, are continually being studied and with the advent of more sophisticated genetic testing, additional genetic discoveries have been made in the field of inherited cancer. This article will summarize many of the updates to both the familiar and perhaps less familiar syndromes that can lead to inherited or early-onset colorectal cancer...
May 2018: Clinics in Colon and Rectal Surgery
https://www.readbyqxmd.com/read/29719120/hepatoblastoma-in-patients-with-molecularly-proven-familial-adenomatous-polyposis-clinical-characteristics-and-rationale-for-surveillance-screening
#20
REVIEW
Angela D Trobaugh-Lotrario, Dolores López-Terrada, Peng Li, James H Feusner
Familial adenomatous polyposis (FAP) due to APC mutation is associated with an increased risk of hepatoblastoma. All cases of hepatoblastoma in patients with FAP reported in the literature were reviewed. One hundred and nine patients were identified. Thirty-five patients (of 49 with data) were diagnosed with hepatoblastoma prior to a later diagnosis of FAP (often in association with advanced colorectal carcinoma), emphasizing a need to identify patients earlier with germline APC mutations for early colorectal carcinoma screening...
May 2, 2018: Pediatric Blood & Cancer
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