10,738 results match your criteria Cronkhite-Canada Syndrome


Novel screening system revealed that intracellular cholesterol trafficking can be a good target for colon cancer prevention.

Sci Rep 2019 Apr 17;9(1):6192. Epub 2019 Apr 17.

Division of Prevention, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.

In conventional research methods for cancer prevention, cell proliferation and apoptosis have been intensively targeted rather than the protection of normal or benign tumor cells from malignant transformation. In this study, we aimed to identify candidate colon cancer chemopreventive drugs based on the transcriptional activities of TCF/LEF, NF-κB and NRF2, that play important roles in the process of malignant transformation. We screened a "validated library" consisting of 1280 approved drugs to identify hit compounds that decreased TCF/LEF and NF-κB transcriptional activity and increased NRF2 transcriptional activity. Read More

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http://www.nature.com/articles/s41598-019-42363-y
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http://dx.doi.org/10.1038/s41598-019-42363-yDOI Listing
April 2019
1 Read

Hereditary gastric cancer: what's new? Update 2013-2018.

Fam Cancer 2019 Apr 15. Epub 2019 Apr 15.

i3S - Instituto de Investigação e Inovação em Saúde, University of Porto, Rua Júlio Amaral de Carvalho, 45, 4200-135, Porto, Portugal.

Around 10-20% of gastric cancer patients have relatives with a diagnosis of GC and in 1-3% of patients a genetic cause can be confirmed. Histopathologically, GC is classified into intestinal-type, with glandular growth, and diffuse-type with poorly cohesive growth pattern often with signet ring cells. Familial or hereditary GC is classified into hereditary diffuse GC (HDGC), familial intestinal GC (FIGC) and polyposis forms. Read More

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http://dx.doi.org/10.1007/s10689-019-00127-7DOI Listing
April 2019
1 Read

Serum metabolite profiling of familial adenomatous polyposis using ultra performance liquid chromatography and tandem mass spectrometry.

Cancer Biol Ther 2019 Apr 14:1-12. Epub 2019 Apr 14.

a Medical School of Chinese PLA , Chinese PLA General Hospital , Beijing , China.

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited intestinal polyposis syndrome accounting for about 1% of colorectal cancers (CRC). Despite increasing researches on the molecular pathogenesis of CRC, we are still unclear about metabolic pathways and alterations probably involved in the development of CRC. To obtain new insights into the mechanisms underlying APC mutation and to elucidate the mechanisms of CRC development, we performed to identify the potential metabolites in FAP based on metabolomic strategy. Read More

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http://dx.doi.org/10.1080/15384047.2019.1595277DOI Listing
April 2019
1 Read

Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report.

BMC Cancer 2019 Apr 5;19(1):324. Epub 2019 Apr 5.

Diretor do Departamento de Patologia Clínica e Anatomia Patológica do Hospital Israelita Albert Einstein, São Paulo, Brazil.

Background: We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception. Colorectal cancer is an important cause of cancer related mortality that can be manifested by an intussusception, a rare occurrence in adults and almost always related to tumors. Approximately 5% of colorectal cancers can be attributed to syndromes known to cause hereditary colorectal cancer, such as MUTYH-associated polyposis, autosomal genetic syndrome associated with this disease. Read More

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http://dx.doi.org/10.1186/s12885-019-5505-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451307PMC
April 2019
1 Read

Pediatric craniopharyngioma in association with familial adenomatous polyposis.

Fam Cancer 2019 Mar 27. Epub 2019 Mar 27.

Morgan Adams Neuro-Oncology Program, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA.

Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome driven by germline loss-of-function of the APC gene and phenotypically manifests with intestinal polyposis and a variety of extra-intestinal bone and soft tissue tumors. Craniopharyngioma is not a well-described FAP-associated tumor, however, six cases have been reported in adults, all demonstrating ectopic location and adamantinomatous histology. We report the first case of craniopharyngioma associated with FAP in a pediatric patient. Read More

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http://link.springer.com/10.1007/s10689-019-00126-8
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http://dx.doi.org/10.1007/s10689-019-00126-8DOI Listing
March 2019
3 Reads

High-fructose corn syrup enhances intestinal tumor growth in mice.

Science 2019 03;363(6433):1345-1349

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Excessive consumption of beverages sweetened with high-fructose corn syrup (HFCS) is associated with obesity and with an increased risk of colorectal cancer. Whether HFCS contributes directly to tumorigenesis is unclear. We investigated the effects of daily oral administration of HFCS in adenomatous polyposis coli (APC) mutant mice, which are predisposed to develop intestinal tumors. Read More

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http://dx.doi.org/10.1126/science.aat8515DOI Listing
March 2019
31.477 Impact Factor

Alterations of the Mice Gut Microbiome via Ova-Induced Granuloma.

Front Microbiol 2019 5;10:352. Epub 2019 Mar 5.

Department of Human Parasitology, School of Basic Medical Science, Shiyan, China.

Schistosomiasis, also called bilharziasis, is a neglected tropical disease induced by spp. that causes hundreds of millions of infections. Although ova-induced granulomas commonly cause inflammation, hyperplasia, ulceration, micro abscess formation, and polyposis, the role of the egg granuloma on the gut microbiome remains unclear. Read More

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http://dx.doi.org/10.3389/fmicb.2019.00352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411663PMC
March 2019
1 Read
3.941 Impact Factor

The application of Apc mouse model in colorectal tumor researches.

J Cancer Res Clin Oncol 2019 Mar 18. Epub 2019 Mar 18.

Changhai Hospital of Traditional Chinese Medicine, Second Military Medical University, Shanghai, 200433, China.

Purpose: Apc mouse is an excellent animal model bearing multiple intestinal neoplasia, used to simulate human familial adenomatous polyposis and colorectal tumors. The key point of this model is the mutation of Apc gene, which is a significant tumor-suppressor gene in the Wnt signaling pathway. There are also some other possible mechanisms responsible for the development of colorectal tumors in the Apc mouse model, such as tumor-associated signaling pathways activation, the changes of tumor-related genes, and the involvement of some related proteins or molecules. Read More

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http://link.springer.com/10.1007/s00432-019-02883-6
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http://dx.doi.org/10.1007/s00432-019-02883-6DOI Listing
March 2019
5 Reads

Promotion or Suppression of Murine Intestinal Polyp Development by iNKT Cell Directed Immunotherapy.

Front Immunol 2019 1;10:352. Epub 2019 Mar 1.

Department of Microbiology and Immunology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

The glycosphingolipid α-galactosylceramide (α-GalCer) is a well-described immune activator with strong anti-tumor properties in animal models. It is presented on CD1d and acts by stimulating the invariant, type I, natural killer T (iNKT) lymphocytes to rapidly secrete TH1 and TH2 associated cytokines. This in turn promotes activation of a diversity of immune cells including natural killer (NK) cells with anti-tumor functions. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405695PMC

Recurrent intestinal obstruction in a patient of Peutz-Jeghers syndrome.

J Cancer Res Ther 2019 Jan-Mar;15(1):252-254

Department of General Surgery, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India.

Peutz-Jeghers syndrome is a rare hamartomatous polyposis syndrome characterized by the presence of intestinal polyps and mucocutaneous melanotic pigmentations. It is associated with various gastrointestinal and extraintestinal malignancies. This case report deals with the clinical presentation, investigations, operative findings, and outcome of a patient harboring this disease. Read More

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http://dx.doi.org/10.4103/jcrt.JCRT_866_17DOI Listing
March 2019
1 Read

A Novel Mouse Model of Sporadic Colon Cancer Induced by Combination of Conditional Apc Genes and Chemical Carcinogen in the Absence of Cre Recombinase.

Carcinogenesis 2019 Mar 12. Epub 2019 Mar 12.

Department of Radiology, The University of Chicago, Chicago, Illinois, USA.

Although valuable insights into colon cancer biology have been garnered from human colon cancer cell lines and primary colonic tissues, and animal studies using human colon cancer xenografts, immunocompetent mouse models of spontaneous or chemically-induced colon cancer better phenocopy human disease. As most sporadic human colon tumors present adenomatous polyposis coli (APC) gene mutations, considerable effort has gone into developing mice that express mutant Apc alleles that mimic human colon cancer pathogenesis. A serious limitation of many of these Apc-mutant murine models, however, is that these mice develop numerous tumors in the small intestine but few, if any, in the colon. Read More

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http://dx.doi.org/10.1093/carcin/bgz050DOI Listing

Cellular Plasticity of Defa4-Expressing Paneth Cells in Response to Notch Activation and Intestinal Injury.

Cell Mol Gastroenterol Hepatol 2019 27;7(3):533-554. Epub 2018 Nov 27.

Cell Biology, Stem Cells and Development Graduate Program, University of Colorado Medical School, Aurora, Colorado; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Colorado Medical School, Aurora, Colorado. Electronic address:

Background & Aims: Loss of leucine-rich repeat-containing G-protein-coupled receptor 5-positive crypt base columnar cells provides permissive conditions for different facultative stem cell populations to dedifferentiate and repopulate the stem cell compartment. In this study, we used a defensin α4-Cre recombinase (Defa4Cre) line to define the potential of Paneth cells to dedifferentiate and contribute to intestinal stem cell (ISC) maintenance during normal homeostasis and after intestinal injury.

Methods: Small intestine and enteroids from Defa4;Rosa26 tandem dimer Tomato (tdTomato), a red fluoresent protein, (or Rosa26 Enhanced Yellow Fluorescent Protein (EYFP)) reporter, Notch gain-of-function (Defa4;Rosa26 Notch Intracellular Domain (NICD)-ires-nuclear Green Fluorescent Protein (nGFP) and Defa4;Rosa26 Enhanced Green Fluorescent Protein (EGFP);TetO), A Disintegrin and Metalloproteinase domain-containing protein 10 (ADAM10) loss-of-function (Defa4;ADAM10), and Adenomatous polyposis coli (APC) inactivation (Defa4;APC) mice were analyzed. Read More

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http://dx.doi.org/10.1016/j.jcmgh.2018.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402430PMC
November 2018

Case report of patient with a Cronkhite-Canada syndrome: sustained remission after treatment with corticosteroids and mesalazine.

BMC Gastroenterol 2019 Feb 27;19(1):36. Epub 2019 Feb 27.

Department of Gastroenterology and Hepatology, University Hospital of Cologne, D-50937, Cologne, Germany.

Background: Cronkhite-Canada syndrome is a rare disease of unknown etiology and the optimal treatment for this syndrome is unknown.

Case Presentation: We present the case of a man who at the age of 66.0 years was diagnosed with Cronkhite-Canada syndrome (CCS). Read More

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http://dx.doi.org/10.1186/s12876-019-0944-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391814PMC
February 2019
8 Reads

TGIF transcription factors repress acetyl CoA metabolic gene expression and promote intestinal tumor growth.

Genes Dev 2019 04 26;33(7-8):388-402. Epub 2019 Feb 26.

Department of Biochemistry and Molecular Genetics, Center for Cell Signaling, University of Virginia, Charlottesville, Virginia 22908, USA.

Tgif1 (thymine-guanine-interacting factor 1) and Tgif2 repress gene expression by binding directly to DNA or interacting with transforming growth factor (TGF) β-responsive SMADs. Tgifs are essential for embryogenesis and may function in tumor progression. By analyzing both gain and loss of Tgif function in a well-established mouse model of intestinal cancer, we show that Tgifs promote adenoma growth in the context of mutant (). Read More

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http://dx.doi.org/10.1101/gad.320127.118DOI Listing
April 2019
2 Reads

Large desmoid tumors in familial adenomatous polyposis: a successful outcome.

Autops Case Rep 2018 Oct-Dec;8(4):e2018045. Epub 2018 Sep 26.

Centro Hospitalar de São João, Department of Surgery. Porto, Portugal.

Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. Read More

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http://dx.doi.org/10.4322/acr.2018.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360820PMC
September 2018

Bcl9 and Pygo synergise downstream of Apc to effect intestinal neoplasia in FAP mouse models.

Nat Commun 2019 02 13;10(1):724. Epub 2019 Feb 13.

MRC Laboratory of Molecular Biology, Cambridge Biomedical Campus, Francis Crick Avenue, Cambridge, CB2 0QH, UK.

Bcl9 and Pygo are Wnt enhanceosome components that effect β-catenin-dependent transcription. Whether they mediate β-catenin-dependent neoplasia is unclear. Here we assess their roles in intestinal tumourigenesis initiated by Apc loss-of-function (Apc), or by Apc encoding a partially-functional Apc truncation commonly found in colorectal carcinomas. Read More

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http://www.nature.com/articles/s41467-018-08164-z
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http://dx.doi.org/10.1038/s41467-018-08164-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374407PMC
February 2019
2 Reads
10.742 Impact Factor

Msx1 loss suppresses formation of the ectopic crypts developed in the Apc-deficient small intestinal epithelium.

Sci Rep 2019 Feb 7;9(1):1629. Epub 2019 Feb 7.

Institute of Molecular Genetics of the ASCR, v. v. i., Videnska 1083, 142 20, Prague 4, Czech Republic.

The first step in the development of human colorectal cancer is aberrant activation of the Wnt signaling pathway. Wnt signaling hyperactivation is predominantly caused by loss-of-function mutations in the adenomatous polyposis coli (APC) gene that encodes the pathway negative regulator. In order to identify genes affected by the Apc loss, we performed expression profiling of intestinal epithelium isolated from mice harboring a conditional Apc allele. Read More

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http://dx.doi.org/10.1038/s41598-018-38310-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367488PMC
February 2019
1 Read

Major duodenal papilla prolapse in Cronkhite-Canada syndrome.

Endoscopy 2019 Apr 7;51(4):E81-E82. Epub 2019 Feb 7.

Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1055/a-0800-8148DOI Listing
April 2019
5 Reads

Peutz-Jeghers Syndrome.

N Engl J Med 2019 Jan;380(5):472

R.G. Kar Medical College and Hospital, Kolkata, India

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http://dx.doi.org/10.1056/NEJMicm1806623DOI Listing
January 2019
1 Read

Identification of aggressive Gardner syndrome phenotype associated with a de novo variant, c.4666dup.

Cold Spring Harb Mol Case Stud 2019 Apr 1;5(2). Epub 2019 Apr 1.

Departments of Otorhinolaryngology, Head and Neck Surgery, USA.

Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Read More

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http://dx.doi.org/10.1101/mcs.a003640DOI Listing
April 2019
4 Reads

[Clinicopathological features of non-neoplastic colorectal polyps].

Authors:
L Jiang Y F Jiao

Zhonghua Bing Li Xue Za Zhi 2019 Feb;48(2):98-101

Department of Pathology, the Second Affiliated Hospital, Harbin Medical University, Harbin 150086, China.

To characterize clinicopathological characteristics of the non-neoplastic colorectal polyps for accurate diagnosis. 1 190 cases were collected from the Second Affiliated Hospital of Harbin Medical University from January 2012 to December 2016 and their clinicopathological characteristics were reviewed. There were 746 males and 444 females patients with male/female ratio of 1. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2019.02.004DOI Listing
February 2019
1 Read

Short- and Long-term Outcomes After Ileal Pouch Anal Anastomosis in Pediatric Patients: A Systematic Review.

Inflamm Bowel Dis 2019 Jan 18. Epub 2019 Jan 18.

Division ofPediatric Surgery, Mayo Clinic, Rochester Minnesota, USA.

Background: Restorative proctocolectomy and ileal pouch anal anastomosis (IPAA) has become the procedures of choice for restoration of intestinal continuity in ulcerative colitis or familial adenomatous polyposis. This systematic review aims to assess short-term postoperative and long-term functional outcomes in pediatric patients undergoing IPAA.

Methods: A literature search was performed for all publications of pediatric IPAA in which short- and long-term outcomes were reported. Read More

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http://dx.doi.org/10.1093/ibd/izy375DOI Listing
January 2019
5 Reads
4.464 Impact Factor

Challenges and pitfalls of investigating duodenal cancer in patients with familial adenomatous polyposis.

Gastrointest Endosc 2019 02;89(2):355-356

Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands; Department of Gastroenterology and Hepatology, Cancer Center Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/j.gie.2018.09.044DOI Listing
February 2019
2 Reads

-6 Linoleic Acid Induces Epigenetics Alterations Associated with Colonic Inflammation and Cancer.

Nutrients 2019 Jan 15;11(1). Epub 2019 Jan 15.

The University of Arizona Cancer Center, Tucson, AZ 85724, USA.

The farnesoid-X-receptor (FXR) protects against inflammation and cancer of the colon through maintenance of intestinal bile acid (BA) homeostasis. Conversely, higher levels of BA and cyclooxygenase-2 (COX-2) are risk factors for inflammation and cancer of the colon. In the United States, -6 linoleic acid (LA) is the most commonly used dietary vegetable fat. Read More

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http://dx.doi.org/10.3390/nu11010171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356359PMC
January 2019
1 Read

A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy.

Case Rep Nephrol Dial 2018 Sep-Dec;8(3):261-267. Epub 2018 Nov 27.

Division of Nephrology and Hypertension, Mayo Clinic in Arizona, Scottsdale, Arizona, USA.

Cronkhite-Canada syndrome (CCS) is a very rare disorder with less than 500 reported cases. It is characterized by extensive gastrointestinal polyposis and ectodermal anomalies including alopecia, cutaneous hyperpigmentation, and onychodystrophy. Only 3 cases of associated kidney disease (membranous nephropathy [MN]) have been reported. Read More

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https://www.karger.com/Article/FullText/494714
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http://dx.doi.org/10.1159/000494714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323406PMC
November 2018
10 Reads

[Diagnosis and treatment for 46 cases of Peutz-Jeghers syndrome].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Dec;43(12):1323-1327

Department of Gastroenterology, the Seventh Medical Center of PLA General Hospital, Beijing 100700, China.

Objective: To explore the clinical features, pathological features, gene test results, diagnosis, treatment and prognosis of Peutz-Jeghers syndrome(PJS).
 Methods: We retrospectively analyzed clinical data of 46 hospitalized cases of PJS during 2007 and 2017.
 Results: All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinal polyposis. Read More

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http://www.csumed.org/xbwk/CN/10.11817/j.issn.1672-7347.2018
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http://dx.doi.org/10.11817/j.issn.1672-7347.2018.12.007DOI Listing
December 2018
15 Reads

[Small Bowel Tumors and Polyposis: How to Approach and Manage?]

Authors:
Bong Min Ko

Korean J Gastroenterol 2018 Dec;72(6):277-280

Digestive Disease Center and Research Institute, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon, Korea.

Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Read More

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http://dx.doi.org/10.4166/kjg.2018.72.6.277DOI Listing
December 2018
2 Reads

Shortcuts to intestinal carcinogenesis by genetic engineering in organoids.

Cancer Sci 2019 Mar 3;110(3):858-866. Epub 2019 Feb 3.

Department of Molecular Carcinogenesis, Chiba Cancer Center Research Institute, Chiba, Japan.

Inactivation of the Adenomatous polyposis coli (APC) gene is an initiating and the most relevant event in most sporadic cases of colorectal cancer, providing a rationale for using Apc-mutant mice as the disease model. Whereas carcinogenesis has been observed only at the organism level, the recent development of the organoid culture technique has enabled long-term propagation of intestinal stem cells in a physiological setting, raising the possibility that organoids could serve as an alternative platform for modeling colon carcinogenesis. Indeed, it is demonstrated in the present study that lentivirus-based RNAi-mediated knockdown of Apc in intestinal organoids gave rise to subcutaneous tumors upon inoculation in immunodeficient mice. Read More

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http://dx.doi.org/10.1111/cas.13938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398887PMC
March 2019
4 Reads

Diffuse Intense Intestinal FDG Activity in a Patient With Familial Adenomatous Polyposis.

Clin Nucl Med 2019 Mar;44(3):262-264

Department of Nuclear Medicine, Zigong First People's Hospital, Zigong, Sichuan, PR China.

Familial adenomatous polyposis is a rare autosomal dominant intestinal syndrome with a high rate of malignant transformation. Here, we report a 20-year-old woman with a diagnosis of familial adenomatous polyposis by pathologic examination after colonoscopy biopsy, who underwent an F-FDG PET/CT to assess the extent of this disease. The images showed diffuse elevated FDG uptake along the entire colorectum. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002438DOI Listing
March 2019
3 Reads

Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.

J Pediatr Gastroenterol Nutr 2019 Mar;68(3):442-452

St Mark's Hospital Polyposis Registry, Harrow, UK.

Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. Development of small bowel intestinal polyps may lead to intussusception in children may require emergency laparotomy with potential loss of bowel. Gastrointestinal polyps may lead to bleeding and anemia. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002248DOI Listing
March 2019
8 Reads

Peutz-Jeghers syndrome: need for early screening.

BMJ Case Rep 2018 Dec 13;11(1). Epub 2018 Dec 13.

Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, Delhi, India.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer-predisposing condition characterised by intestinal hamartomatous polyps and distinct melanin depositions in skin and mucosa. Small intestinal cancer in patients with PJS usually presents by the third decade. A 7-year-old-PJS boy presented with recurrent episodes of colicky abdominal pain and melena requiring repeated blood transfusions. Read More

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http://dx.doi.org/10.1136/bcr-2018-225076DOI Listing
December 2018

Acute Pancreatitis Caused by Ampullary Duodenum Adenoma in a Patient with Adenomatous Polyposis Coli with Billroth II Reconstruction After Distal Gastrectomy.

Am J Case Rep 2018 Dec 15;19:1495-1498. Epub 2018 Dec 15.

Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan.

BACKGROUND Adenomatous polyposis coli is an autosomal dominant hereditary disorder. Duodenal adenocarcinoma and adenoma, which are extracolonic lesions, not only affect the prognosis of patients but also cause acute pancreatitis. CASE REPORT We present the case of a 73-year-old male. Read More

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http://dx.doi.org/10.12659/AJCR.912248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320568PMC
December 2018
3 Reads

A striking flail chest: a rare manifestation in Cronkhite-Canada syndrome.

Intest Res 2019 Jan 14;17(1):155-156. Epub 2018 Dec 14.

Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

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http://dx.doi.org/10.5217/ir.2018.00132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361013PMC
January 2019
1 Read

Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.

Mol Genet Genomic Med 2019 01 6;7(1):e00505. Epub 2018 Dec 6.

Department of Colorectal Surgery, Tianjin Union Medical Center, Tianjin, China.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested with "hundreds or even thousands" adenomas or polyps in colon or rectum. Read More

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http://dx.doi.org/10.1002/mgg3.505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382451PMC
January 2019
12 Reads

Multiple Gastrointestinal Cancers in a Single Patient-a Rare Clinical Entity.

Indian J Surg Oncol 2018 Dec 16;9(4):633-635. Epub 2018 May 16.

Department of Surgical Oncology, BLK Hospital, Rajinder Place, New Delhi, 110008 India.

Multiple gastrointestinal cancers in a single patient is a rare entity. In our study, we are showing the clinical presentation and management of these patients. A fifty-nine-year-old asthenic male (already treated case of metachronous colorectal cancer in 2008 and 2011) presented with complaints of generalized weakness and fatigue. Read More

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http://link.springer.com/10.1007/s13193-018-0770-6
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http://dx.doi.org/10.1007/s13193-018-0770-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265184PMC
December 2018
16 Reads

Building Decision Analysis Tools Through Systematic Review of the Literature: The Importance of Study Quality.

Dis Colon Rectum 2019 01;62(1):1-2

1 Department of Surgery, University of Ottawa Ottawa, Ontario, Canada 2 Ottawa Hospital Research Institute Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1097/DCR.0000000000001185DOI Listing
January 2019
1 Read

Maxillofacial Radiographic study of Gardner's syndrome presenting with odontogenic myxoma: A rare case report.

Stomatologija 2018 ;20(2):59-64

Department of restorative and periodontology, University of Greifswald, Friedrich Ebert Str. 69, 34119 Kassel, Germany.

Gardner syndrome is an autosomal dominant disease. It is characterized by a combination of familial adenomatous polyposis (FAP) of the intestine with extraintestinal changes as multiple osteomas and fibromas. Odontogenic Myxoma is a benign, aggressive intraosseous neoplasm. Read More

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February 2019
2 Reads

Ileal-pouch anal anastomosis in pediatric NSQIP: Does a laparoscopic approach reduce complications and length of stay?

J Pediatr Surg 2019 Jan 5;54(1):112-117. Epub 2018 Oct 5.

Department of Surgery, Mayo Clinic, Rochester, MN; The Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, Mayo Clinic, Rochester, MN.

Purpose: The purpose of this study was to determine if a laparoscopic approach reduces complications and length of stay (LOS) after total proctocolectomy with ileal pouch-anal anastomosis (TPC-IPAA) in pediatric patients using a multicenter prospective database.

Methods: The American College of Surgeons National Surgical Quality Improvement Project Pediatric database from 2012 to 2015 was used to identify patients with a diagnosis of chronic ulcerative colitis (CUC) or familial adenomatous polyposis (FAP) undergoing TPC-IPAA. Major complications, minor complications, and prolonged LOS were compared based on laparoscopic versus open approach. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.10.005DOI Listing
January 2019
2 Reads

Laparoscopy adjuvant total colorectal resection for the treatment of familial adenomatous polyposis (FAP).

Clin Transl Oncol 2018 Nov 21. Epub 2018 Nov 21.

Department of Colorectal Surgery, Tianjin Union Medical Center, 190 Jieyuan Road, Tianjin, 300121, People's Republic of China.

Objective: To discuss and evaluate the safety and value of laparoscopy adjuvant total colorectal resection for the treatment of familial adenomatous polyposis (FAP).

Methods: From March 2010 to June 2015, 38 cases were retrospectively analyzed and divided into 2 groups, of which 17 cases used laparoscopy adjuvant total colorectal resection, and 21 cases used conventional laparotomy. Clinical data were obtained, and the safety and prognosis were observed. Read More

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http://link.springer.com/10.1007/s12094-018-1979-0
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http://dx.doi.org/10.1007/s12094-018-1979-0DOI Listing
November 2018
12 Reads

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1381-1386

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Background Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs). Case presentation A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0265DOI Listing
December 2018
18 Reads

Gardner syndrome with maxillofacial manifestation: A case report.

Spec Care Dentist 2019 Jan 12;39(1):65-71. Epub 2018 Nov 12.

Postgraduate Program, Dental College, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

Gardner syndrome is a hereditary disease in which patients develop gastrointestinal polyps, osteomas, desmoid tumors, epidermoid cysts, fibromas, lipomas, and retinal lesions. Dental abnormalities such as supernumerary or impacted teeth, odontomas and dentigerous cysts are also reported. The most serious concern in this syndrome is the extremely high risk of gastrointestinal polyps undergoing malignant transformation. Read More

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http://doi.wiley.com/10.1111/scd.12339
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http://dx.doi.org/10.1111/scd.12339DOI Listing
January 2019
11 Reads

Bone and dental abnormalities as first signs of familial Gardner's syndrome in a Chinese family: a literature review and a case report.

Med Sci (Paris) 2018 Oct 7;34 Focus issue F1:20-25. Epub 2018 Nov 7.

M.S., D.D.S., Attending doctor, Department of Oral and Maxillofacial Surgery, First Affiliated Hospital, College of Medicine, Zhejiang University. 79# Qingchun Road, Hangzhou 310003, People's Republic of China.

Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. Read More

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http://dx.doi.org/10.1051/medsci/201834f104DOI Listing
October 2018
1 Read

Video Comment on Lobke Desomer et al.

Authors:

Endoscopy 2018 11 6;50(11):v38. Epub 2018 Nov 6.

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http://dx.doi.org/10.1055/a-0744-2226DOI Listing
November 2018
12 Reads

A Decision Analysis for Rectal-Sparing Familial Adenomatous Polyposis: Total Colectomy With Ileorectal Anastomosis Versus Proctocolectomy With IPAA.

Dis Colon Rectum 2019 01;62(1):27-32

Department of Surgery, Brigham and Women's Hospital/Harvard Medical School, Boston, Massachusetts.

Background: There are different approaches for the surgical management of rectal-sparing familial adenomatous polyposis with variable impacts on both quality of life and survival.

Objective: The aim of this study was to quantify the trade-offs between total proctocolectomy with IPAA versus total colectomy with ileorectal anastomosis using decision analysis.

Design: We created a disease simulation Markov model to simulate the clinical events after IPAA and ileorectal anastomosis for rectal-sparing familial adenomatous polyposis in a cohort of individuals at the age 30 years. Read More

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http://Insights.ovid.com/crossref?an=00003453-900000000-9990
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http://dx.doi.org/10.1097/DCR.0000000000001186DOI Listing
January 2019
15 Reads

TMEM9 promotes intestinal tumorigenesis through vacuolar-ATPase-activated Wnt/β-catenin signalling.

Nat Cell Biol 2018 12 29;20(12):1421-1433. Epub 2018 Oct 29.

Department of Experimental Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Vesicular acidification and trafficking are associated with various cellular processes. However, their pathologic relevance to cancer remains elusive. We identified transmembrane protein 9 (TMEM9) as a vesicular acidification regulator. Read More

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http://www.nature.com/articles/s41556-018-0219-8
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http://dx.doi.org/10.1038/s41556-018-0219-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261670PMC
December 2018
20 Reads
19.680 Impact Factor

Underwater endoscopic mucosal resection of a large jejunal polyp by single-balloon enteroscopy in a patient with Peutz-Jeghers syndrome.

Dig Liver Dis 2019 01 20;51(1):170-172. Epub 2018 Aug 20.

University Division of Gastroenterology, Department of Medical Sciences, University of Turin, City of Health and Science, Turin, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S15908658183089
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http://dx.doi.org/10.1016/j.dld.2018.08.017DOI Listing
January 2019
9 Reads

Cancer pharmacoprevention: Targeting polyamine metabolism to manage risk factors for colon cancer.

J Biol Chem 2018 11 24;293(48):18770-18778. Epub 2018 Oct 24.

From Cancer Prevention Pharmaceuticals, Tucson, Arizona 85718 and.

Cancer is a set of diseases characterized by uncontrolled cell growth. In certain cancers of the gastrointestinal tract, the adenomatous polyposis coli (APC) tumor suppressor gene is altered in either germline or somatic cells and causes formation of risk factors, such as benign colonic or intestinal neoplasia, which can progress to invasive cancer. APC is a key component of the WNT pathway, contributing to normal GI tract development, and APC alteration results in dysregulation of the pathway for production of polyamines, which are ubiquitous cations essential for cell growth. Read More

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http://www.jbc.org/lookup/doi/10.1074/jbc.TM118.003343
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http://dx.doi.org/10.1074/jbc.TM118.003343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290143PMC
November 2018
6 Reads