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https://www.readbyqxmd.com/read/29446530/a-novel-tissue-based-%C3%A3-catenin-gene-and-immunohistochemical-analysis-to-exclude-familial-adenomatous-polyposis-among-children-with-hepatoblastoma-tumors
#1
Hendrikus J Dubbink, Iris H I M Hollink, Carolina Avenca Valente, Wenhui Wang, Pengyu Liu, Michail Doukas, Max M van Noesel, Winand N M Dinjens, Anja Wagner, Ron Smits
BACKGROUND: The Wnt/β-catenin pathway plays a central role in the pathogenesis of most hepatoblastomas (HBs), that is, up to 60-80% carry activating CTNNB1 mutations. HBs can however also be the first manifestation of familial adenomatous polyposis (FAP). As this is a severe disease, it is important for the patient and related family members to firmly exclude FAP at an early stage. Current diagnosis largely depends on APC germline mutation detection on genomic DNA, which is associated with 10-20% false-negative results...
February 15, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29439154/tumorigenic-colonic-bacteria-may-promote-early-neoplasia
#2
(no author information available yet)
Colonic biofilms may accelerate tumorigenesis in patients with familial adenomatous polyposis (FAP).
February 9, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29436014/comparison-of-dysplastic-fundic-gland-polyps-in-patients-with-and-without-familial-adenomatous-polyposis
#3
Shana F Straub, Michael G Drage, Raul S Gonzalez
AIM: Dysplastic FGPs (d-FGPs) typically arise in patients with familial adenomatous polyposis (FAP) but may occur in nonsyndromic patients. They rarely develop malignancy, but their significance is unclear, especially in nonsyndromic patients. APC/β-catenin alterations have been implicated in their pathogenesis, and β-catenin immunohistochemistry (IHC) may show nuclear positivity. METHODS AND RESULTS: We identified 124 FGPs with low-grade dysplasia (LGD) or high-grade dysplasia (HGD) or indefinite for dysplasia (IFD) from 66 patients (27 with FAP, 39 nonsyndromic)...
February 12, 2018: Histopathology
https://www.readbyqxmd.com/read/29426546/a-chemometric-approach-for-characterization-of-serum-transthyretin-in-familial-amyloidotic-polyneuropathy-type-i-fap-i-by-electrospray-ionization-ion-mobility-mass-spectrometry
#4
Laura Pont, Victoria Sanz-Nebot, Marta Vilaseca, Joaquim Jaumot, Roma Tauler, Fernando Benavente
In this study, we describe a chemometric data analysis approach to assist in the interpretation of the complex datasets from the analysis of high-molecular mass oligomeric proteins by ion mobility mass spectrometry (IM-MS). The homotetrameric protein transthyretin (TTR) is involved in familial amyloidotic polyneuropathy type I (FAP-I). FAP-I is associated with a specific TTR mutant variant (TTR(Met30)) that can be easily detected analyzing the monomeric forms of the mutant protein. However, the mechanism of protein misfolding and aggregation onset, which could be triggered by structural changes in the native tetrameric protein, remains under investigation...
May 1, 2018: Talanta
https://www.readbyqxmd.com/read/29423915/sensory-nerve-degeneration-in-a-mouse-model-mimicking-early-manifestations-of-familial-amyloid-polyneuropathy-due-to-transthyretin-ala97ser
#5
Hung-Wei Kan, Hao Chiang, Whei-Min Lin, I-Shing Yu, Shu-Wha Lin, Sung-Tsang Hsieh
AIMS: Sensory nerve degeneration and consequent abnormal sensations are the earliest and most prevalent manifestations of familial amyloid polyneuropathy (FAP) due to amyloidogenic transthyretin (TTR). FAP is a relentlessly progressive degenerative disease of the peripheral nervous system. However, there is a lack of mouse models to replicate the early neuropathic manifestations of FAP. METHODS: We established human TTR knock-in mice by replacing one allele of the mouse Ttr locus with human wild-type TTR (hTTRwt ) or human TTR with the A97S mutation (hTTRA97S )...
February 8, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29423501/association-of-sulindac-and-erlotinib-vs-placebo-with-colorectal-neoplasia-in-familial-adenomatous-polyposis-secondary-analysis-of-a-randomized-clinical-trial
#6
N Jewel Samadder, Scott K Kuwada, Kenneth M Boucher, Kathryn Byrne, Priyanka Kanth, Wade Samowitz, David Jones, Sean V Tavtigian, Michelle Westover, Therese Berry, Kory Jasperson, Lisa Pappas, Laurel Smith, Danielle Sample, Randall W Burt, Deborah W Neklason
Importance: Patients with familial adenomatous polyposis (FAP) are at markedly increased risk for colorectal polyps and cancer. A combination of sulindac and erlotinib led to a 71% reduction in duodenal polyp burden in a phase 2 trial. Objective: To evaluate effect of sulindac and erlotinib on colorectal adenoma regression in patients with FAP. Design, Setting, and Participants: Prespecified secondary analysis for colorectal adenoma regression was carried out using data from a double-blind, randomized, placebo-controlled trial, enrolling 92 patients with FAP, conducted from July 2010 to June 2014 in Salt Lake City, Utah...
February 8, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29422639/ileal-pouch-of-ulcerative-colitis-and-familial-adenomatous-polyposis-patients-exhibit-modulation-of-autophagy-markers
#7
Nielce Maria Paiva, Lívia Bitencourt Pascoal, Leandro Minatel Vidal Negreiros, Mariana Portovedo, Andressa Coope, Maria de Lourdes Setsuko Ayrizono, Claudio Saddy Rodrigues Coy, Marciane Milanski, Raquel Franco Leal
Total retocolectomy with ileal pouch-anal anastomosis (IPAA) is the surgery of choice for patients with ulcerative colitis (UC) that are refractory to clinical treatment. Pouchitis is one of the most common complications after this procedure. Defects in autophagy have been reported in inflammatory bowel diseases. However, there are no studies on the IP. Therefore, we studied markers for autophagy in the IP mucosa of UC and FAP patients comparing them to controls with a normal distal ileum. Sixteen patients with IP in "J" shape, asymptomatic and with endoscopically normal IP were evaluated...
February 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29420293/patients-with-familial-adenomatous-polyposis-harbor-colonic-biofilms-containing-tumorigenic-bacteria
#8
Christine M Dejea, Payam Fathi, John M Craig, Annemarie Boleij, Rahwa Taddese, Abby L Geis, Xinqun Wu, Christina E DeStefano Shields, Elizabeth M Hechenbleikner, David L Huso, Robert A Anders, Francis M Giardiello, Elizabeth C Wick, Hao Wang, Shaoguang Wu, Drew M Pardoll, Franck Housseau, Cynthia L Sears
Individuals with sporadic colorectal cancer (CRC) frequently harbor abnormalities in the composition of the gut microbiome; however, the microbiota associated with precancerous lesions in hereditary CRC remains largely unknown. We studied colonic mucosa of patients with familial adenomatous polyposis (FAP), who develop benign precursor lesions (polyps) early in life. We identified patchy bacterial biofilms composed predominately of Escherichia coli and Bacteroides fragilis Genes for colibactin (clbB) and Bacteroides fragilis toxin (bft), encoding secreted oncotoxins, were highly enriched in FAP patients' colonic mucosa compared to healthy individuals...
February 2, 2018: Science
https://www.readbyqxmd.com/read/29419868/-concurrent-apc-and-mlh1mutations-identified-in-a-family-affected-with-familial-adenomatous-polyposis
#9
Chenguang Shang, Linzhi Liu, Xiaohui Wang, Ying Dong, Yan Zhang
OBJECTIVE To report on concurrent mutations of APC and MLH1 genes identified in a family affected with familial adenomatous polyposis(FAP). METHODS The proband was diagnosed with FAP based on her clinical manifestation, family history and histopathology examination. She developed endometrial epithelial neoplasia(EIN) two years later. With peripheral blood samples collected from her and members of her family, genomic DNA was extracted, and mutations of the APC and MLH1 genes were analyzed by Sanger sequencing...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29417085/in-silico-design-and-expression-of-a-novel-fusion-protein-of-hbha-and-high-antigenic-region-of-fap-p-of-mycobacterium-avium-subsp-paratuberculosis-in-pichia-pastoris
#10
Vida Eraghi, Abdollah Derakhshandeh, Arsalan Hosseini, Azar Motamedi-Boroojeni
Mycobacterium avium subsp. paratuberculosis (MAP) is the etiologic agent of Johne's disease in ruminants and there has been a shift in the public health approach to MAP and human diseases like Crohn's disease. The prevention of infection by MAP in ruminants is thought to deter the high impact of economic losses in the level of dairy industry and possible spreading of this pathogen in dairy products. The present study was done to investigate the construction and expression of the soluble form of a novel fusion protein, consisting of Heparin-binding hemagglutinin (HBHA) and high antigenic region of Fibronectin Attachment Protein-P (FAP-P), in order to introduce as a Th1 inducer subunit vaccine against MAP...
December 2017: Molecular Biology Research Communications
https://www.readbyqxmd.com/read/29415055/tissue-analyses-reveal-a-potential-immune-adjuvant-function-of-fap-1-positive-fibroblasts-in-non-small-cell-lung-cancer
#11
Thomas Karsten Kilvaer, Mehrdad Rakaee, Turid Hellevik, Arne Østman, Carina Strell, Roy M Bremnes, Lill-Tove Busund, Tom Dønnem, Inigo Martinez-Zubiaurre
OBJECTIVES: Selective targeting of cancer-associated fibroblasts (CAFs) has been proposed to synergize with immune-checkpoint inhibitors. While the roles of CAFs in cancer development are well described, their immune-regulatory properties remain incompletely understood. This study investigates correlations between CAF and immune-markers in tumor stroma from non-small cell lung cancer (NSCLC) patients, and examines whether a combination of CAF and immune cell scores impact patient prognosis...
2018: PloS One
https://www.readbyqxmd.com/read/29399988/uncoupling-protein-1-expression-in-adipocytes-derived-from-skeletal-muscle-fibro-adipogenic-progenitors-is-under-genetic-and-hormonal-control
#12
Tatiane Gorski, Sebastian Mathes, Jan Krützfeldt
BACKGROUND: Intramuscular fatty infiltration is generally associated with the accumulation of white adipocytes in skeletal muscle and unfavourable metabolic outcomes. It is, however, still unclear whether intramuscular adipocytes could also acquire a brown-like phenotype. Here, we detected intramuscular expression of brown adipocyte markers during fatty infiltration in an obesity-resistant mouse strain and extensively compared the potential of two different stem cell populations residing in skeletal muscle to differentiate into brown-like adipocytes...
February 5, 2018: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/29396429/activin-dependent-signaling-in-fibro-adipogenic-progenitors-causes-fibrodysplasia-ossificans-progressiva
#13
John B Lees-Shepard, Masakazu Yamamoto, Arpita A Biswas, Sean J Stoessel, Sarah-Anne E Nicholas, Cathy A Cogswell, Parvathi M Devarakonda, Michael J Schneider, Samantha M Cummins, Nicholas P Legendre, Shoko Yamamoto, Vesa Kaartinen, Jeffrey W Hunter, David J Goldhamer
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disorder characterized by progressive and profoundly disabling heterotopic ossification (HO). Here we show that fibro/adipogenic progenitors (FAPs) are a major cell-of-origin of HO in an accurate genetic mouse model of FOP (Acvr1 tnR206H ). Targeted expression of the disease-causing type I bone morphogenetic protein (BMP) receptor, ACVR1(R206H), to FAPs recapitulates the full spectrum of HO observed in FOP patients. ACVR1(R206H)-expressing FAPs, but not wild-type FAPs, activate osteogenic signaling in response to activin ligands...
February 2, 2018: Nature Communications
https://www.readbyqxmd.com/read/29395463/uncovering-hereditary-tumor-syndromes-emerging-role-of-surgical-pathology
#14
REVIEW
Abbas Agaimy, Arndt Hartmann
With the increased use of modern next generation sequencing technologies in routine molecular pathology practice, the proportion of cancer cases with a definite or probable hereditary background seems to be steadily increasing. Currently, it is assumed that ≥10% of all malignancies develop in the setting of germline predisposition. Diagnosis and recognition of cancer predisposition syndromes relies not rarely on distinctive histopathological features that proved to be highly valuable and reproducible in uncovering those diseases that would otherwise have gone undetected by clinicians as being hereditary in nature...
January 29, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29394742/-a-case-of-duodenal-cancer-with-familial-adenomatous-polyposis
#15
Takafumi Yachi, Taiichi Wakiya, Keinosuke Ishido, Daisuke Kudo, Norihisa Kimura, Kenichi Hakamada
A 34-year-old man was diagnosed with familial adenomatous polyposis(FAP)in September 2011, and he underwent endoscopic mucosal resection(EMR)due to multiple polyps in the duodenum and small intestine. Three months later, duodenal cancer was found, and he underwent a subsequent EMR. The pathological findings showed residual cancer cells in the lateral margin; therefore, EMR was performed again. Total colectomy and partial resection of the small intestine was performed in December 2012. Esophagogastroduodenoscopy(EGD)was then performed every 3-6 months, and EMR was performed 4 times...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29394664/-the-characteristics-and-treatment-outcomes-for-desmoid-tumors-associated-with-familial-adenomatous-polyposis
#16
Kunihiko Amano, Noriyasu Chika, Tetsuya Ito, Azusa Yamamoto, Satoshi Hatano, Toru Ishiguro, Minoru Fukuchi, Youichi Kumagai, Keiichiro Ishibashi, Erito Mochiki, Takeo Iwama, Hidetaka Eguchi, Koji Okazaki, Shigehisa Inokuma, Hideyuki Ishida
INTRODUCTION: The characteristics of desmoid tumors(DTs)associated with familial adenomatous polyposis(FAP)and relationships between the development of DTs and the sites of APC germline mutation have not closely been examined Japan. PATIENTS AND METHODS: This retrospective study was performed to address these issues by examining patients with FAP who underwent proctocolectomy between 1981 and 2015. RESULTS: The cumulative 2-year incidence of DT development was 50%...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29384380/high-content-surface-and-total-expression-sirna-kinase-library-screen-with-vx-809-treatment-reveals-synergistic-kinase-targets-that-enhance-f508del-cftr-rescue
#17
Lydia A Perkins, Gregory W Fisher, Matharishwan Naganbabu, Marcel P Bruchez
The most promising F508del-CFTR corrector, VX-809, has been unsuccessful as an effective, stand-alone treatment for CF patients, but the rescue effect in combination with other drugs may confer an acceptable level of therapeutic benefit. Targeting cellular factors that modify trafficking may synergistically enhance the cell surface density of F508-CFTR with VX-809 correction. Our goal is to identify druggable kinases that enhance F508del-CFTR rescue and stabilization at the cell surface beyond that achievable with VX-809 corrector alone...
January 31, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29381243/neural-crest-derived-cells-migrate-from-nerve-to-participate-in-achilles-tendon-remodeling
#18
Kang Xu, Xin Pan, Xuefeng Qiu, Dong Wang, Nianguo Dong, Li Yang, Song Li
During tendon injuries, nerve ingrowth is one of the earliest events of tendon repair and remodeling. Since peripheral neurons and associated cells are mostly derived from neural crest (NC) cells, we sought to investigate the role of NC-derived cells in tendon regeneration. Thus, we used Sox10-Cre/ROSA26-Flox-Red Fluorescent Protein (RFP) transgenic mice to trace these cells during tendon regeneration. After 4 weeks of Achilles tendon rupture, the injured tendon tissues were harvested for immunohistological analyses, cell isolation, and phenotype identification...
January 30, 2018: Wound Repair and Regeneration
https://www.readbyqxmd.com/read/29373909/congenital-hypertrophy-of-retinal-pigment-epithelium-for-diagnosis-of-familial-adenomatous-polyposis-the-first-fap-registry-in-iran
#19
Seyed Kazem Mirinezhad, Farideh Mousavi, Masood Baghri, Bita Sepehri, Ali Ghavidel, Morteza Ghojazadeh, Mohammad Hossein Somi
Objective: Familial adenomatous polyposis (FAP), an autosomal dominant inherited disorder is characterized by the presence of multiple adenomatous colorectal polyps, which can develop into cancer during early adulthood. Therefore, early diagnosis is essential. Most FAP patients have several extracolonic manifestations, including congenital hypertrophy of the retinal pigment epithelium (CHRPE). Whereas genetic markers may provide the main route to detection of ‘‘at risk’’ subjects , at present this approach is clearly limited and searches for a noninvasive phenotypic marker continue to be high priority...
January 27, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29368261/apc-mosaicism-in-a-young-woman-with-desmoid-type-fibromatosis-and-familial-adenomatous-polyposis
#20
Astrid Tenden Stormorken, Thomas Berg, Ole-Jacob Norum, Toto Hølmebakk, Kristin Aaberg, Sonja E Steigen, Eli Marie Grindedal
Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and desmoids. Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15-20% of the APC mutations are de novo mutations...
January 24, 2018: Familial Cancer
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