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https://www.readbyqxmd.com/read/28439498/gastric-and-duodenal-polyps-in-familial-adenomatous-polyposis-patients-conventional-endoscopy-vs-virtual-chromoendoscopy-fujinon-intelligent-color-enhancement-in-dysplasia-evaluation
#1
Gabriele Lami, Andrea Galli, Giuseppe Macrì, Emanuele Dabizzi, Maria Rosa Biagini, Mirko Tarocchi, Luca Messerini, Rosa Valanzano, Stefano Milani, Simone Polvani
AIM: To test the fujinon intelligent color enhancement (FICE) in identifying dysplastic or adenomatous polyps in familial adenomatous polyposis (FAP) patients. METHODS: Seventy-six consecutive FAP patients, already treated by colectomy and members of sixty-five families, were enrolled. A FICE system for the upper gastro-intestinal tract with an electronic endoscope system and a standard duodenoscope (for side-viewing examination) were used by two expert examiners...
April 10, 2017: World Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28434346/refine-penetrance-estimates-in-the-main-pathogenic-variants-of-transthyretin-hereditary-familial-amyloid-polyneuropathy-ttr-fap-using-a-new-non-parametric-approach-npse
#2
Farida Gorram, Flora Alarcon, Hervé Perdry, Bérénice Hébrard, Thibaud Damy, Pascale Fanen, Benoît Funalot, Gregory Nuel, Violaine Planté-Bordeneuve
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434340/long-term-effects-of-liver-transplantation-on-small-fiber-dysfunction-in-japanese-transthyretin-attr-v30m-hereditary-amyloidosis-with-polyneuropathy-fap
#3
Konen Obayashi, Mitsuharu Ueda, Taro Yamashita, Masayoshi Tasaki, Ayane Izaki, Yukako Yanagisawa, Teruaki Masuda, Yohei Misumi, Yukio Ando
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434333/fap-plasma-induced-cellular-toxicity
#4
Christoph Niemietz, Gursimran Chandhok, Lutz Fleischhauer, Paula Ballmaier, Vanessa Sauer, Sarah Guttmann, Andree Zibert, Hartmut Schmidt
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28434329/de-novo-hereditary-familial-amyloid-polyneuropathy-fap-in-a-fap-liver-recipient
#5
Sarah Guttmann, Christoph Röcken, Martina Schmidt, Inga Grünewald, Andree Zibert, Jörg Stypmann, Matthias Schilling, Hartmut Schmidt
No abstract text is available yet for this article.
March 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28433926/discredited-legacy-stigma-and-familial-amyloid-polyneuropathy-in-northwestern-portugal
#6
Álvaro Mendes, Liliana Sousa, Jorge Sequeiros, Angus Clarke
RATIONALE: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. OBJECTIVE: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide. METHOD: We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness...
April 15, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28429649/fundic-gland-polyps-in-the-pediatric-population
#7
Amy Coffey, Kalyani Patel, Norma Quintanilla, Richard Kellermayer, Hao Wu
We retrospectively studied the clinical and histologic features of pediatric fundic gland polyps (FGPs) in 16 patients. FGPs had an endoscopic prevalence of 0.25% in 8527 pediatric gastric biopsies. Five patients had familial adenomatous polyposis (FAP). The median age of onset was 17.7 years in FAP and 17.3 years in sporadic patients. All syndromic patients were asymptomatic and FGPs were identified during surveillance for existing or concurrent colon polyps. They did not take antacids. In comparison, all 11 sporadic FGPs were identified during evaluation of symptomatic patients who had taken antacids (median duration 21 months)...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28429313/gradually-shrinking-intra-abdominal-desmoid-tumor-derived-from-the-stomach-in-a-young-boy-a-case-report
#8
Kazushi Miyata, Masahide Fukaya, Masato Nagino
BACKGROUND: Intra-abdominal desmoid tumors, particularly those derived from the stomach, are rare. Such tumors are associated with a history of familial adenomatous polyposis (FAP), trauma, or surgical procedures in general. In addition, spontaneous shrinking of an intra-abdominal desmoid tumor is rarer. And desmoid tumors most commonly arise during the fourth decade of life. CASE PRESENTATION: A 17-year-old boy with lower abdominal pain was diagnosed with a gastrointestinal stromal tumor (GIST) or a hematoma at a local hospital...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28428272/hur-small-molecule-inhibitor-elicits-differential-effects-in-adenomatosis-polyposis-and-colorectal-carcinogenesis
#9
Michaela Lang, David Berry, Katharina Passecker, Ildiko Mesteri, Sabin Bhuju, Florian Ebner, Vitaly Sedlyarov, Rayko Evstatiev, Kyle Dammann, Alexander Loy, Orest Kuzyk, Pavel Kovarik, Vineeta Khare, Martin Beibel, Guglielmo Roma, Nicole Meisner-Kober, Christoph Gasche
HuR is an RNA-binding protein implicated in immune homeostasis and various cancers, including colorectal cancer. HuR binding to AU-rich elements within the 3' untranslated region of mRNAs encoding oncogenes, growth factors, and various cytokines leads message stability and translation. In this study, we evaluated HuR as a small-molecule target for preventing colorectal cancer in high-risk groups such as those with familial adenomatosis polyposis (FAP) or inflammatory bowel disease (IBD). In human specimens, levels of cytoplasmic HuR were increased in colonic epithelial cells from patients with IBD, IBD-cancer, FAP-adenoma, and colorectal cancer, but not in patients with IBD-dysplasia...
February 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/28423518/a-novel-pathogenic-splice-acceptor-site-germline-mutation-in-intron-14-of-the-apc-gene-in-a-chinese-family-with-familial-adenomatous-polyposis
#10
Dan Wang, Shengyun Liang, Zhao Zhang, Guoru Zhao, Yuan Hu, Shengran Liang, Xipeng Zhang, Santasree Banerjee
Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition, clinically characterized by the presence of multiple colorectal adenomas or polyps. Patients with FAP has a high risk of developing colorectal cancer (CRC) from these colorectal adenomatous polyps by the mean age of diagnosis at 40 years. Germline mutations of the APC gene cause familial adenomatous polyposis (FAP). Colectomy has recommended for the FAP patients with significant polyposis. Here, we present a clinical molecular study of a four generation Chinese family with FAP...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28423312/hgfa-is-an-injury-regulated-systemic-factor-that-induces-the-transition-of-stem-cells-into-galert
#11
Joseph T Rodgers, Matthew D Schroeder, Chanthia Ma, Thomas A Rando
The activation of quiescent stem cells into the cell cycle is a key step in initiating the process of tissue repair. We recently reported that quiescent stem cells can transition into GAlert, a cellular state in which they have an increased functional ability to activate and participate in tissue repair. However, the precise molecular signals that induce GAlert in stem cells have remained elusive. Here, we show that the injury-induced regulation of hepatocyte growth factor (HGF) proteolytic processing via the systemic protease, hepatocyte growth factor activator (HGFA), stimulates GAlert in skeletal muscle stem cells (MuSCs) and fibro-adipogenic progenitors (FAPs)...
April 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28418912/human-microrna-expression-in-sporadic-and-fap-associated-desmoid-tumors-and-correlation-with-beta-catenin-mutations
#12
Aldo Cavallini, Maria Teresa Rotelli, Catia Lippolis, Domenico Piscitelli, Rosa Digennaro, Claudia Covelli, Nicola Carella, Matteo Accetturo, Donato Francesco Altomare
Desmoid tumors (DT) are rare, benign, fibroblastic neoplasm with challenging histological diagnosis. DTs can occur sporadically or associated with the familial adenomatous polyposis coli (FAP). Most sporadic DTs are associated with β-catenin gene (CTNNB1) mutations, while mutated APC gene causes FAP disease. microRNAs (miRNAs) are involved in many human carcinogenesis.The miRNA profile was analyzed by microarray in formalin-fixed, paraffin-embedded (FFPE) specimens of 12 patients (8 sporadic, 4 FAP-associated) and 4 healthy controls...
March 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28418862/niclosamide-is-a-potential-therapeutic-for-familial-adenomatosis-polyposis-by-disrupting-axin-gsk3-interaction
#13
Sung Yong Ahn, Nam Hee Kim, Kyungro Lee, Yong Hoon Cha, Ji Hye Yang, So Young Cha, Eunae Sandra Cho, Yoonmi Lee, Jeong Seok Cha, Hyun Soo Cho, Yoon Jeon, Young-Su Yuk, Suebean Cho, Kyoung Tai No, Hyun Sil Kim, Ho Lee, Jiwon Choi, Jong In Yook
The epithelial-mesenchymal transition (EMT) is implicated in tumorigenesis and cancer progression, and canonical Wnt signaling tightly controls Snail, a key transcriptional repressor of EMT. While the suppression of canonical Wnt signaling and EMT comprises an attractive therapeutic strategy, molecular targets for small molecules reverting Wnt and EMT have not been widely studied. Meanwhile, the anti-helminthic niclosamide has been identified as a potent inhibitor of many oncogenic signaling pathways although its molecular targets have not yet been clearly identified...
March 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28415584/folic-acid-phenotype-fap-is-a-superior-biomarker-predicting-response-to-pemetrexed-based-chemotherapy-in-malignant-pleural-mesothelioma
#14
Fabian Dominik Mairinger, Claudia Vollbrecht, Elena Flom, Daniel Christian Christoph, Kurt-Werner Schmid, Jens Kollmeier, Helmut Hans Popper, Thomas Mairinger, Robert Fred Henry Walter
BACKGROUND: Malignant pleural mesothelioma (MPM) is a rare tumor linked to a dismal prognosis. Even the most effective chemotherapeutical regime of pemetrexed combined with cisplatin leads to a remission-rate of only about 40%. The reasons for the rather poor efficacy remain largely unknown. RESULTS: Phenotypes were significantly associated with progression (p=0.0279) and remission (p=0.0262). Cox-regression revealed significant associations between SLC19A1/TYMS-ratio (p=0...
March 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414915/tethered-fluorogen-assay-to-visualize-membrane-apposition-in-living-cells
#15
Daniel S Ackerman, Kalin V Vasilev, Brigitte F Schmidt, Lianne B Cohen, Jonathan W Jarvik
We describe proof-of-concept for a novel approach for visualizing regions of close apposition between the surfaces of living cells. A membrane-anchored protein with high affinity for a chemical ligand is expressed on the surface of one set of cells, and the cells are co-cultured with a second set of cells that express a membrane-anchored fluorogen-activating protein (FAP). The co-cultured cells are incubated with a bivalent reagent comprised of fluorogen linked to the high-affinity ligand, with the concentration of the bivalent reagent chosen to be less than the binding constant for the FAP/fluorogen pair, but greater than the binding constant for the ligand/high-affinity protein pair...
April 17, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/28413499/identification-a-nonsense-mutation-of-apc-gene-in-chinese-patients-with-familial-adenomatous-polyposis
#16
Haishan Li, Lingling Zhang, Quan Jiang, Zhenwang Shi, Hanxing Tong
Familial adenomatous polyposis (FAP; Mendelian of Inherintance in Man ID, 175100) is a rare autosomal dominant disorder characterized by the development of numerous adenomatous polyps throughout the colon and rectum associated with an increased risk of colorectal cancer. FAP is at time accompanied with certain extraintestinal manifestations such as congenital hypertrophy of the retinal pigment epithelium, dental disorders and desmoid tumors. It is caused by mutations in the adenomatous polyposis coli (APC) gene...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28412748/tumor-necrosis-factor-receptor-2-akt-and-erk-signaling-pathways-contribute-to-the-switch-from-fibroblasts-to-cafs-by-progranulin-in-microenvironment-of-colorectal-cancer
#17
Linlin Wang, Dong Yang, Jing Tian, Aiqin Gao, Yihang Shen, Xia Ren, Xia Li, Guosheng Jiang, Taotao Dong
Cancer associated fibroblasts (CAFs) are a crucial cellular component in tumor microenvironment and could promote tumor progression. CAFs are usually derived from resident fibroblasts, which undergoing an activated process stimulated by tumor cells. However, the agents and mechanism driving this switch have not yet been elucidated. Progranulin (PGRN), a well acknowledged secreted glycoprotein, could promote proliferation and angiogenesis of colorectal cancer (CRC) cells, and high expression of PGRN correlated with patient poor prognosis...
February 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28412068/vitreous-amyloidosis-ocular-systemic-and-genetic-insights
#18
Pradeep Venkatesh, Harathy Selvan, Sundararajan Baskar Singh, Divya Gupta, Seema Kashyap, Shreyas Temkar, Varun Gogia, Koushik Tripathy, Rohan Chawla, Rajpal Vohra
PURPOSE: To report the unique clinical and surgical characteristics encountered in eyes with vitreous amyloidosis. Systemic evaluation and visual outcome after vitrectomy are discussed. A novel mutation in the transthyretin gene (TTR) in Indian patients with familial amyloid polyneuropathy (FAP) is described. DESIGN: Retrospective, observational study. PARTICIPANTS: Ten eyes of 5 patients from 2 pedigrees with a diagnosis of vitreous amyloidosis...
April 12, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28405717/-differential-indications-for-ileoanal-pouch-anastomosis-ulcerative-colitis-familial-adenomatous-polyposis-synchronous-colorectal-cancer-crohn-s-disease-constipation
#19
A Fürst
Ileoanal pouch anastomosis is the procedure of choice for patients with drug refractory ulcerative colitis, indeterminate colitis and familial adenomatous polyposis (FAP). In selected patient groups this procedure is a treatment option for patients with Crohn's disease, hereditary nonpolyposis colorectal cancer (HNPCC), synchronous colorectal cancer and for severe colorectal constipation refractory to conservative drug treatment. The pouch procedure provides the opportunity to avoid a permanent ileostomy. The majority of surgeons prefer the ileal J‑pouch as the construction is the easiest to perform and complications and dysfunction rates are low...
April 12, 2017: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/28393570/tafamidis-delays-disease-progression-in-patients-with-early-stage-transthyretin-familial-amyloid-polyneuropathy-additional-supportive-analyses-from-the-pivotal-trial
#20
Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni, Michelle Stewart, Leslie Amass
BACKGROUND: Tafamidis, a non-NSAID highly specific transthyretin stabilizer, delayed neurologic disease progression as measured by Neuropathy Impairment Score-Lower Limbs (NIS-LL) in an 18-month, double-blind, placebo-controlled randomized trial in 128 patients with early-stage transthyretin V30M familial amyloid polyneuropathy (ATTRV30M-FAP). The current post hoc analyses aimed to further evaluate the effects of tafamidis in delaying ATTRV30M-FAP progression in this trial. METHODS: Pre-specified, repeated-measures analysis of change from baseline in NIS-LL in this trial (ClinicalTrials...
April 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
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