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https://www.readbyqxmd.com/read/28105931/regulatory-single-nucleotide-polymorphisms-rsnps-at-the-promoters-1a-and-1b-of-the-human-apc-gene
#1
Marina Yu Matveeva, Elena V Kashina, Vasily V Reshetnikov, Leonid O Bryzgalov, Elena V Antontseva, Natalia P Bondar, Tatiana I Merkulova
BACKGROUND: Germline mutations in the coding sequence of the tumour suppressor APC gene give rise to familial adenomatous polyposis (which leads to colorectal cancer) and are associated with many other oncopathologies. The loss of APC function because of deletion of putative promoter 1A or 1B also results in the development of colorectal cancer. Since the regions of promoters 1A and 1B contain many single nucleotide polymorphisms (SNPs), the aim of this study was to perform functional analysis of some of these SNPs by means of an electrophoretic mobility shift assay (EMSA) and a luciferase reporter assay...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105195/familial-adenomatous-polyposis-in-china
#2
Jun Yang, Qing Wei Liu, Liang Wen Li, Qiang Zhi Wang, Min Hong, Jian Dong
Familial adenomatous polyposis (FAP) is an autosomal dominant disease with a poor prognosis, and has been studied by clinicians and geneticists in China for the past three decades. It is estimated that FAP has an incidence of between 1 in 8,000 and 1 in 10,000 individuals, and accounts for 0.94% of colorectal cancer cases in China. Recent advances in the understanding of FAP suggest that the genotype of the patient may allow for early diagnosis and surveillance, and guide surgical and chemopreventive management...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28097500/update-on-aspirin-exacerbated-respiratory-disease
#3
REVIEW
Katharine M Woessner
Aspirin-exacerbated respiratory disease (AERD) is an acquired disease characterized by chronic eosinophilic airway inflammation with underlying dysregulation of arachidonic acid metabolism. The purpose of this paper is to review the latest developments in our understanding of the underlying pathophysiology including the role of eosinophils, mast cells, innate lymphoid cells (ILC2), and platelets. Clinical features such as respiratory reactions induced by alcohol, aggressive nasal polyposis, and anosmia will allow for earlier recognition of these patients in clinical practice...
January 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28087410/repair-of-8-oxog-a-mismatches-by-the-mutyh-glycosylase-mechanism-metals-medicine
#4
REVIEW
Douglas M Banda, Nicole N Nuñez, Michael A Burnside, Katie M Bradshaw, Sheila S David
Reactive oxygen and nitrogen species (RONS) may infringe on the passing of pristine genetic information by inducing DNA inter- and intra-strand crosslinks, protein-DNA crosslinks, and chemical alterations to the sugar or base moieties of DNA. 8-Oxo-7,8-dihydroguanine (8-oxoG) is one of the most prevalent DNA lesions formed by RONS and is repaired through the base excision repair (BER) pathway involving the DNA repair glycosylases OGG1 and MUTYH in eukaryotes. MUTYH removes adenine (A) from 8-oxoG:A mispairs, thus mitigating the potential of G:C to T:A transversion mutations from occurring in the genome...
January 10, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28075483/detecting-apc-gene-mutations-in-familial-adenomatous-polyposis-fap
#5
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/28075444/the-role-of-lncrna-malat1-in-the-regulation-of-hepatocyte-proliferation-during-liver-regeneration
#6
Cuicui Li, Lei Chang, Zhiquan Chen, Zhongzhong Liu, Yanfeng Wang, Qifa Ye
Exploring the biological functions of long non-coding RNAs (lncRNAs) has come to the foreground in recent years. Studies have indicated that the lncRNA metastasis‑associated lung adenocarcinoma transcript 1 (MALAT1) not only regulates tumorigenesis in hepatocellular carcinoma, but also controls cell cycle progression in hematopoietic cells. The present study was designed to investigate the biological role of lncRNA MALAT1 in liver regeneration. We carried out a series of assays during liver regeneration following 2/3 partial hepatectomy in mice...
February 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28072629/the-key-clues-to-reach-the-diagnosis-of-loeffler-endomyocardial-fibrosis-associated-with-eosinophilic-granulomatosis-with-polyangiitis
#7
Enrico Ammirati, Domenico Sirico, Linda Brevetti, Laura Scudiero, Diana Artioli, Patrizia Pedrotti, Maria Frigerio
Loeffler endomyocardial fibrosis is a rare restrictive cardiomyopathy due to chronic eosinophilic exposure (Loeffler endomyocarditis). Loeffler endomyocarditis is associated with different eosinophilic disorders, including eosinophilic granulomatosis with polyangiitis (EGPA). These images recapitulate all typical findings that can be observed in patients presenting with heart failure attributable to this specific cardiomyopathy associated with EGPA, a systemic medical condition that can be easily detectable just putting together different diagnostic elements...
January 7, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28070680/a-disturbance-of-intestinal-epithelial-cell-population-and-kinetics-in-apc1638t-mice
#8
Tuya Wang, Takanori Onouchi, Nami O Yamada, Shuji Matsuda, Takao Senda
The adenomatous polyposis coli (APC) is a multifunctional protein as well as a tumor suppressor. To determine the functions of the C-terminal domain of APC, we explored APC (1638T/1638T) (APC1638T) mice that express a truncated APC lacking the C-terminal domain. The APC1638T mice were tumor free and exhibited growth retardation. In the present study, we compared small intestinal crypt-villus cells homeostasis in APC (+/+) (WT) mice and APC1638T mice. The body weight of APC1638T mice was significantly smaller than that of WT mice at all ages...
January 9, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28063287/clinical-practice-guidelines-for-the-use-of-video-capsule%C3%A2-endoscopy
#9
Robert A Enns, Lawrence Hookey, David Armstrong, Charles N Bernstein, Steven J Heitman, Christopher Teshima, Grigorios I Leontiadis, Frances Tse, Daniel Sadowski
BACKGROUND & AIMS: Video capsule endoscopy (CE) provides a noninvasive option to assess the small intestine, but its use with respect to endoscopic procedures and cross-sectional imaging varies widely. The aim of this consensus was to provide guidance on the appropriate use of CE in clinical practice. METHODS: A systematic literature search identified studies on the use of CE in patients with Crohn's disease, celiac disease, gastrointestinal bleeding, and anemia...
January 4, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28057861/cellular-context-dependent-consequences-of-apc-mutations-on-gene-regulation-and-cellular-behavior
#10
Kyoichi Hashimoto, Yosuke Yamada, Katsunori Semi, Masaki Yagi, Akito Tanaka, Fumiaki Itakura, Hitomi Aoki, Takahiro Kunisada, Knut Woltjen, Hironori Haga, Yoshiharu Sakai, Takuya Yamamoto, Yasuhiro Yamada
The spectrum of genetic mutations differs among cancers in different organs, implying a cellular context-dependent effect for genetic aberrations. However, the extent to which the cellular context affects the consequences of oncogenic mutations remains to be fully elucidated. We reprogrammed colon tumor cells in an Apc(Min/+) (adenomatous polyposis coli) mouse model, in which the loss of the Apc gene plays a critical role in tumor development and subsequently, established reprogrammed tumor cells (RTCs) that exhibit pluripotent stem cell (PSC)-like signatures of gene expression...
January 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28057765/insulin-signaling-regulates-a-functional-interaction-between-adenomatous-polyposis-coli-apc-and-cytoplasmic-dynein
#11
Feng J Gao, Liang Shi, Timothy Hines, Sachin Hebbar, Kristi L Neufeld, Deanna S Smith
Diabetes is linked to an increased risk for colorectal cancer, but the mechanistic underpinnings of this clinically important effect are unclear. Here we describe an interaction between the microtubule motor cytoplasmic dynein, the adenomatous polyposis coli tumor suppressor protein (APC), and glycogen synthase kinase-3β (GSK-3β) that could shed light on this issue. GSK-3β is perhaps best known for glycogen regulation, being inhibited downstream in an insulin-signaling pathway. However, the kinase is also important in many other processes...
January 5, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28049287/proton-pump-inhibitor-induced-fundic-gland-polyposis
#12
Young Joo Park, Gwang Ha Kim
No abstract text is available yet for this article.
January 2017: Korean Journal of Internal Medicine
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
#13
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
#14
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/28031412/dual-pi3k-mtor-inhibition-in-colorectal-cancers-with-apc-and-pik3ca-mutations
#15
Tyler M Foley, Susan N Payne, Cheri A Pasch, Alex E Yueh, Dana R Van De Hey, Demetra P Korkos, Linda Clipson, Molly E Maher, Kristina A Matkowskyj, Michael A Newton, Dustin A Deming
: Therapeutic targeting of the phosphoinositide 3-kinase (PI3K) pathway is an active area of research in multiple cancer types, including breast and endometrial cancers. This pathway is commonly altered in cancer and plays an integral role in numerous vital cellular functions. Mutations in the PIK3CA gene, resulting in a constitutively active form of PI3K, often occur in colorectal cancer (CRC), though the population of patients who would benefit from targeting this pathway has yet to be identified...
December 28, 2016: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28029683/alopecia-areata-incognita-in-cronkhite-canada-syndrome
#16
S Ong, C Rodriguez-Garcia, S Grabczynska, J Carton, M Osborn, J Walters, F Kubba, C M Stefanato
Cronkhite-Canada syndrome is an acquired inflammatory polyposis syndrome in which alopecia, onychomadesis and hyperpigmentation occur concurrently with gastrointestinal symptoms. The pathophysiology of alopecia in Cronkhite-Canada Syndrome has not been definitively elucidated and we present evidence for alopecia incognita as a possible mechanism of hair loss. This article is protected by copyright. All rights reserved.
December 28, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28029172/diagnosing-eosinophilic-asthma-using-a-multivariate-prediction-model-based-on-blood-granulocyte-responsiveness
#17
B Hilvering, S J H Vijverberg, J Jansen, L Houben, R C Schweizer, S Go, L Xue, I D Pavord, J-W J Lammers, L Koenderman
BACKGROUND: The identification of inflammatory asthma phenotypes, using sputum analysis, has proven its value in diagnosis and disease monitoring. However due to technical limitations of sputum analysis there is a strong need for fast and non-invasive diagnostics. This study included the activation state of eosinophils and neutrophils in peripheral blood to phenotype and monitor asthma. OBJECTIVES: To (1) construct a multivariable model using the activation state of blood granulocytes, (2) compare its diagnostic value with sputum eosinophilia as gold standard and (3) validate the model in an independent patient cohort...
December 28, 2016: Allergy
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
#18
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/28024986/the-natural-history-of-diminutive-and-small-colorectal-polyps-a-systematic-literature-review
#19
REVIEW
Jasper L A Vleugels, Yark Hazewinkel, Paul Fockens, Evelien Dekker
BACKGROUND: Diminutive (1-5 mm) and small (6-9 mm) polyps comprise 90% of detected lesions during colonoscopy and rarely contain advanced histology or colorectal cancer (CRC). Routine removal of these lesions results in a significant burden to colonoscopy programs. At the same time, the risk for progression of these polyps to CRC is unclear. We performed a systematic review to explore the natural history of diminutive and small colorectal polyps. METHODS: We searched MEDLINE and EMBASE for studies investigating the natural history of colorectal polyps...
December 23, 2016: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28019643/sleep-quality-improves-with-endoscopic-sinus-surgery-in-patients-with-chronic-rhinosinusitis-and-nasal-polyposis
#20
M Värendh, A Johannisson, H Hrubros-Strøm, M Andersson
BACKGROUND: Chronic Rhinosinusitis with Nasal Polyposis (CRSwNP) is a chronic disease that has a major impact on generic and disease-specific quality of life. Little is known about the influence of CRSwNP on sleep and what effect surgery for CRSwNP has on sleep quality. The aim of the study was to investigate sleep quality in patients with CRSwNP before and after endoscopic surgery. METHODOLOGY: Forty-two patients filled out four validated sleep questionnaires and one sino/nasal, disease specific quality of life questionnaire before surgery and three months later...
December 26, 2016: Rhinology
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