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Polyposis

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https://www.readbyqxmd.com/read/28633443/nod2-genetic-variants-predispose-one-of-two-familial-adenomatous-polyposis-siblings-to-pouchitis-through-microbiome-dysbiosis
#1
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
#2
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...
June 19, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28609837/familial-pancreatic-cancer-and-the-future-of-directed-screening
#3
REVIEW
Sara Welinsky, Aimee L Lucas
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs...
June 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28608749/polypoid-change-of-the-middle-turbinate-and-paranasal-sinus-polyposis-are-distinct-entities
#4
Jacob P Brunner, Basit A Jawad, Edward D McCoul
Objectives Polypoid change of the middle turbinate (PCMT) is a finding on intranasal examination whose significance is not well understood. We present a comparison of the clinical characteristics of PCMT with paranasal sinus polyposis (PSP), a common condition with potentially similar appearance. Study Design Parallel case series. Setting Tertiary rhinology clinic. Subjects and Methods Data were prospectively compiled from consecutive patients during a 12-month period with either PSP arising from the middle meatus or PCMT limited to the middle turbinate as identified on nasal endoscopy...
June 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28602067/bacterial-ball-as-an-unusual-finding-in-patients-with-chronic-rhinosinusitis
#5
Dong-Kyu Kim, Young Chan Wi, Su-Jin Shin, Youn Il Jang, Kyung Rae Kim, Seok Hyun Cho
Objectives: Pathophysiology of chronic rhinosinusitis (CRS) is very complex and has not yet been clearly understood. To date, various factors have been researched to have relations with the pathogenesis of CRS, such as superantigens and biofilms. Recently, we found an unusual pathological finding in patients with CRS, and we called this new entity as bacteria ball (or bioball). In this study, we analyze the clinical characteristics of bacteria ball occurred in CRS. Methods: This study enrolled consecutive 247 patients with CRS who underwent functional endoscopic sinus surgery from January 2015 to August 2016...
June 6, 2017: Clinical and Experimental Otorhinolaryngology
https://www.readbyqxmd.com/read/28600700/co-occurrence-of-lynch-syndrome-and-juvenile-polyposis-syndrome-confirmed-by-multigene-panel-testing
#6
Rachel Silva-Smith, Daniel A Sussman
Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first report of an individual having these two hereditary colorectal cancer syndromes. This discovery highlights the benefit of multigene testing over traditional stepwise genetic testing, particularly when a clinical presentation suggests more than one underlying genetic cause...
June 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28599061/a-possible-role-of-stem-cells-in-nasal-polyposis
#7
REVIEW
L Klimek, M Koennecke, J Mullol, P W Hellings, D Y Wang, W Fokkens, P H Gevaert, B Wollenberg
Since its discovery, the understanding of stem/progenitor cells raised dramatically in the last decade. Their regenerative potential is important to develop new therapeutic applications, but the identification advanced much faster than our understanding of stem/progenitor cells. In nasal polyposis, little is known about stem cells/progenitor cells and their ability. However, the further characterization of stem cells/progenitor cells may provide new treatment options for combating nasal polyposis. This review highlights the knowledge of the current literature about stem cells/progenitor cells in nasal polyposis and how this may be exploited in the development of novel treatment strategies...
June 9, 2017: Allergy
https://www.readbyqxmd.com/read/28596822/ethmoid-malformation-associated-with-pediatric-nasal-polyposis-and-allergic-fungal-sinusitis
#8
Cameron G Hanson, Todd B Proctor
A 17-year-old female with allergic fungal sinusitis and nasal polyposis presented with epistaxis in the emergency room. On examination, right-sided proptosis and irregular nasal obstruction were observed in the right nasal cavity. CT imaging revealed massive right-sided polyposis and significant ipsilateral malformation with boney architecture preservation of the ethmoidal labyrinth and lamina papyracea. The patient was treated surgically with symptomatic improvement. These findings indicate a unique malformation of the ethmoid while the patient was in development...
June 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28591746/short-stature-homeobox-2-methylation-as-a-potential-noninvasive-biomarker-in-bronchial-aspirates-for-lung-cancer-diagnosis
#9
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
#10
Jiří Cyrany
No abstract text is available yet for this article.
2017: Acta Medica (Hradec Králové)
https://www.readbyqxmd.com/read/28589859/integrative-information-theoretic-network-analysis-for-genome-wide-association-study-of-aspirin-exacerbated-respiratory-disease-in-korean-population
#11
Sehee Wang, Hyun-Hwan Jeong, Dokyoon Kim, Kyubum Wee, Hae-Sim Park, Seung-Hyun Kim, Kyung-Ah Sohn
BACKGROUND: Aspirin Exacerbated Respiratory Disease (AERD) is a chronic medical condition that encompasses asthma, nasal polyposis, and hypersensitivity to aspirin and other non-steroidal anti-inflammatory drugs. Several previous studies have shown that part of the genetic effects of the disease may be induced by the interaction of multiple genetic variants. However, heavy computational cost as well as the complexity of the underlying biological mechanism has prevented a thorough investigation of epistatic interactions and thus most previous studies have typically considered only a small number of genetic variants at a time...
May 24, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28588785/sporadic-giant-intra-abdominal-desmoid-tumor-a-radiological-case-report
#12
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/28587510/effects-of-fluticasone-furoate-nasal-spray-on-parameters-of-eosinophilic-inflammation-in-patients-with-nasal-polyposis-and-perennial-allergic-rhinitis
#13
Cveta Špadijer Mirković, Aleksandar Perić, Biserka Vukomanović Đurđević, Danilo Vojvodić
OBJECTIVES: Regulated on activation normal T cell expressed and secreted (RANTES) and eotaxin-2 have been postulated to be responsible for eosinophilia in chronically inflamed nasal mucosa. This study evaluated mucosal production of RANTES and eotaxin-2 in patients with perennial allergic rhinitis (PAR) and nonallergic and allergic form of chronic rhinosinusitis with nasal polyps (CRSwNP) before and after nasal corticosteroid treatment. METHODS: Twenty patients with PAR, 20 nonallergic and 20 allergic CRSwNP patients, and 20 healthy controls were included...
June 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28587064/prostaglandin-e2-induced-cox-2-expressions-via-ep2-and-ep4-signaling-pathways-in-human-lovo-colon-cancer-cells
#14
Hsi-Hsien Hsu, Yueh-Min Lin, Chia-Yao Shen, Marthandam Asokan Shibu, Shin-Yi Li, Sheng-Huang Chang, Chien-Chung Lin, Ray-Jade Chen, Vijaya Padma Viswanadha, Hui-Nung Shih, Chih-Yang Huang
Metastasis is the most dangerous risk faced by patients with hereditary non-polyposis colon cancer (HNPCC). The expression of matrix metalloproteinases (MMPs) has been observed in several types of human cancers and regulates the efficacy of many therapies. Here, we show that treatment with various concentrations of prostaglandin E2 (PGE2; 0, 1, 5 or 10 μM) promotes the migration ability of the human LoVo colon cancer cell line. As demonstrated by mRNA and protein expression analyses, EP2 and EP4 are the major PGE2 receptors expressed on the LoVo cell membrane...
May 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28585754/management-of-patients-with-polyposis
#15
EDITORIAL
Allan D Spigelman
No abstract text is available yet for this article.
June 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28576136/novel-apc-gene-mutations-associated-with-protein-alteration-in-diffuse-type-gastric-cancer
#16
Souvik Ghatak, Payel Chakraborty, Sandeep Roy Sarkar, Biswajit Chowdhury, Arup Bhaumik, Nachimuthu Senthil Kumar
BACKGROUND: The role of adenomatous polyposis coli (APC) gene in mitosis might be critical for regulation of genomic stability and chromosome segregation. APC gene mutations have been associated to have a role in colon cancer and since gastric and colon tumors share some common genetic lesions, it is relevant to investigate the role of APC tumor suppressor gene in gastric cancer. METHODS: We investigated for somatic mutations in the Exons 14 and 15 of APC gene from 40 diffuse type gastric cancersamples...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28575850/deletion-of-tumor-suppressors-adenomatous-polyposis-coli-and-smad4-in-murine-luminal-epithelial-cells-causes-invasive-prostate-cancer-and-loss-of-androgen-receptor-expression
#17
Kenneth C Valkenburg, Angelo M De Marzo, Bart O Williams
Prostate cancer is the most diagnosed non-skin cancer in the US and kills approximately 27,000 men per year in the US. Additional genetic mouse models are needed that recapitulate the heterogeneous nature of human prostate cancer. The Wnt/beta-catenin signaling pathway is important for human prostate tumorigenesis and metastasis, and also drives tumorigenesis in mouse models. Loss of Smad4 has also been found in human prostate cancer and drives tumorigenesis and metastasis when coupled with other genetic aberrations in mouse models...
May 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28573646/does-endoscopic-sinus-surgery-improve-olfaction-in-nasal-polyposis
#18
Abdullah AlBader, Corinna G Levine, Roy R Casiano
No abstract text is available yet for this article.
June 2, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28571174/comparison-of-steroid-and-itraconazole-for-prevention-of-recurrence-in-allergic-fungal-rhinosinusitis-a-randomized-controlled-trial
#19
Moirangthem Rojita, Swagatika Samal, Pradeep Pradhan, V P Venkatachalam
INTRODUCTION: Allergic Fungal Rhinosinusitis (AFRS) is due to the continuous exposure of fungal antigens to an atopic individual. Medical treatment following the surgery is the standard protocol often practiced for the treatment of AFRS. Steroid (systemic/topical) has been considered as the standard medical treatment for the control of the disease in AFRS although most of the patients show recurrence with long term follow up. Instead, antifungals (itraconazole) can be tried to decrease the recurrence rate which acts by inhibiting the fungal growth in the postoperative period...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28570749/comparison-of-sporadic-and-fap-associated-desmoid-type-fibromatoses
#20
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
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