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https://www.readbyqxmd.com/read/28533537/novel-mutations-and-phenotypic-associations-identified-through-apc-mutyh-nthl1-pold1-pole-gene-analysis-in-indian-familial-adenomatous-polyposis-cohort
#1
Nikhat Khan, Anuja Lipsa, Gautham Arunachal, Mukta Ramadwar, Rajiv Sarin
Colo-Rectal Cancer is a common cancer worldwide with 5-10% cases being hereditary. Familial Adenomatous Polyposis (FAP) syndrome is due to germline mutations in the APC or rarely MUTYH gene. NTHL1, POLD1, POLE have been recently reported in previously unexplained FAP cases. Unlike the Caucasian population, FAP phenotype and its genotypic associations have not been widely studied in several geoethnic groups. We report the first FAP cohort from South Asia and the only non-Caucasian cohort with comprehensive analysis of APC, MUTYH, NTHL1, POLD1, POLE genes...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28531916/effects-of-elevated-atmospheric-co2-on-dissolution-of-geological-fluorapatite-in-water-and-soil
#2
Zhen Li, Mu Su, Da Tian, Lingyi Tang, Lin Zhang, Yangfan Zheng, Shuijin Hu
Most of phosphorus (P) is present as insoluble phosphorus-bearing minerals or organic forms in soil. Geological fluorapatite (FAp) is the dominant mineral-weathering source of P. In this study, FAp was added into water and soil under elevated CO2 to investigate the pathway of P release. Two types of soils (an acidic soil from subtropical China and a saline-alkali soil from Tibet Plateau, China) with similar total P content were studied. In the solution, increased CO2 in air enhanced the dissolution of FAp, i...
May 16, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28531107/analysis-of-gene-expression-signatures-in-cancer-associated-stroma-from-canine-mammary-tumours-reveals-molecular-homology-to-human-breast-carcinomas
#3
Julia Ettlin, Elena Clementi, Parisa Amini, Alexandra Malbon, Enni Markkanen
Cancer-associated stroma (CAS) plays a key role in cancer initiation and progression. Spontaneously occurring canine mammary carcinomas are viewed as excellent models of human breast carcinomas. Considering the importance of CAS for human cancer, it likely plays a central role in canine tumours as well. So far, however, canine CAS lacks characterisation, and it remains unclear whether the biology between CAS from canine and human tumours is comparable. In this proof-of-principle study, using laser-capture microdissection, we isolated CAS and normal stroma from 13 formalin-fixed paraffin embedded canine simple mammary carcinomas and analysed the expression of seven known human CAS markers by RT-qPCR (Reverse Transcription quantitative PCR) and validated some targets by immunohistochemistry...
May 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28527106/a-trans-acting-factor-may-modify-age-at-onset-in-familial-amyloid-polyneuropathy-attrv30m-in-portugal
#4
Miguel Alves-Ferreira, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset patients (≤30 years) when compared with late-onset individuals. A clinical genetic study at a referral center comprising a sample of 910 Portuguese individuals includes 589 Val30Met carriers, 102 spouses, and 189 controls from the general population...
May 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28525362/fgf21-receptor-agonists-an-emerging-therapeutic-class-for-obesity-related-diseases
#5
Junichiro Sonoda, Mark Z Chen, Amos Baruch
Fibroblast growth factor 21 (FGF21) analogs and FGF21 receptor agonists (FGF21RAs) that mimic FGF21 ligand activity constitute the new "FGF21-class" of anti-obesity and anti-diabetic molecules that improve insulin sensitivity, ameliorate hepatosteatosis and promote weight loss. The metabolic actions of FGF21-class proteins in obese mice are attributed to stimulation of brown fat thermogenesis and increased secretion of adiponectin. The therapeutic utility of this class of molecules is being actively investigated in clinical trials for the treatment of type 2 diabetes and non-alcoholic steatohepatitis (NASH)...
May 19, 2017: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/28523180/primary-atypical-carcinoid-tumor-of-the-mediastinum-a-very-rare-finding
#6
Luigi Ventura, Letizia Gnetti, Enrico Maria Silini, Guido Rindi, Paolo Carbognani, Michele Rusca, Luca Ampollini
Primary neuroendocrine tumors (NETs) of the mediastinum are very rare. Prognosis is usually poor despite treatment options. We present the case of a primary atypical carcinoid tumor of the mediastinum successfully treated by multimodal approach. A 50-year-old man presented for asthenia, dyspnea, and substernal sense of weight for two weeks. A chest-CT scan revealed a tumor mass of 107×55×95 mm(3) localized in the anterosuperior mediastinum compressing both brachiocephalic veins, the superior vena cava, the pericardium, and lungs...
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28520806/als-skeletal-muscle-shows-enhanced-tgf-%C3%AE-signaling-fibrosis-and-induction-of-fibro-adipogenic-progenitor-markers
#7
David Gonzalez, Osvaldo Contreras, Daniela L Rebolledo, Juan Pablo Espinoza, Brigitte van Zundert, Enrique Brandan
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which upper and lower motoneurons degenerate leading to muscle wasting, paralysis and eventually death from respiratory failure. Several studies indicate that skeletal muscle contributes to disease progression; however the molecular mechanisms remain elusive. Fibrosis is a common feature in skeletal muscle under chronic damage conditions such as those caused by muscular dystrophies or denervation. However, the exact mechanisms of fibrosis induction and the cellular bases of this pathological response are unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28508289/somatic-mosaicism-with-reversion-to-normality-of-a-mutated-transthyretin-allele-related-to-a-familial-amyloidotic-polyneuropathy
#8
Concetta Federico, Ketty Dugo, Francesca Bruno, Anna Maria Longo, Agata Grillo, Salvatore Saccone
Familial amyloidotic polyneuropathy (FAP) is a progressive neuropathy, with onset in adulthood and high mortality. It is related to an altered transthyretin (TTR) plasma protein, mainly produced by the liver and responsible for amyloid deposit in the peripheral nervous system. SNPs in the TTR gene were associated with FAP, and the G>C substitution (NM_000371.3:c.325G>C) in the 109th codon (GAG vs CAG; NP_362.1:p.E109Q) was previously described in Sicily (Italy). Here, we report on a Sicilian family with several patients affected by FAP related to the E109Q mutation, which displayed a somatic mosaicism with the reversion to normality of the c...
May 15, 2017: Human Genetics
https://www.readbyqxmd.com/read/28506908/effects-of-the-fibroblast-activation-protein-inhibitor-pt100-in-a-murine-model-of-pulmonary-fibrosis
#9
Christine Egger, Catherine Cannet, Christelle Gérard, Thomas Suply, Iwona Ksiazek, Elizabeth Jarman, Nicolau Beckmann
Bleomycin (BLM) induced lung injury is detectable in C57BL/6 mice using magnetic resonance imaging (MRI). We investigated the effects of the fibroblast activation protein (FAP) inhibitor, PT100, in this model. BLM (0.5 mg/kg/day) was administered on days -7, -6, -5, -2, -1, 0 in the nostrils of male mice. PT100 (40 µg/mouse) or vehicle (0.9%NaCl) was dosed per os twice daily from day 1 to 14. MRI was performed before BLM and at days 0, 7 and 14. After the last MRI acquisition, animals were euthanised and the lungs harvested for histological and quantitative real-time polymerase chain reaction (qRT-PCR) analyses...
May 12, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28504867/the-ptpn13-y2081d-t-g-rs989902-polymorphism-is-associated-with-an-increased-risk-of-sporadic-colorectal-cancer
#10
Izabela Laczmanska, Pawel Karpinski, Justyna Gil, Lukasz Laczmanski, Izabela Makowska, Marek Bebenek, David Ramsey, Maria M Sasiadek
Colorectal cancer (CRC) is one of the most common cancers worldwide and, although the majority of cases are sporadic, its development and progression depends on a range of factors: environmental, genetic and epigenetic. A variety of genetic pathways have been described as being crucial in CRC, including protein tyrosine phosphatases (PTPs). PTPN13 (alias FAP-1) is a non-receptor PTP and interacts with a number of important components of growth and apoptosis pathways. It is also involved in the inhibition of Fas-induced apoptosis...
May 15, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28501163/on-line-immunoaffinity-solid-phase-extraction-capillary-electrophoresis-mass-spectrometry-using-fab%C3%A2-antibody-fragments-for-the-analysis-of-serum-transthyretin
#11
Laura Pont, Fernando Benavente, José Barbosa, Victoria Sanz-Nebot
This paper describes an on-line immunoaffinity solid-phase extraction capillary electrophoresis mass spectrometry (IA-SPE-CE-MS) method using an immunoaffinity sorbent with Fab' antibody fragments (Fab'-IA) for the analysis of serum transthyretin (TTR), a homotetrameric protein (Mr~56,000) involved in different types of amyloidosis. The IA sorbent was prepared by covalent attachment of Fab' fragments obtained from a polyclonal IgG antibody against TTR to succinimidyl silica particles. The Fab'-IA-SPE-CE-MS methodology was first established analyzing TTR standard solutions...
August 1, 2017: Talanta
https://www.readbyqxmd.com/read/28490611/extracolonic-cancer-risk-in-dutch-patients-with-apc-adenomatous-polyposis-coli-associated-polyposis
#12
Zeinab Ghorbanoghli, Barbara Aj Bastiaansen, Alexandra Mj Langers, Fokko M Nagengast, Jan-Werner Poley, James Ch Hardwick, Jan J Koornstra, Silvia Sanduleanu, Wouter H de Vos Tot Nederveen Cappel, Ben Jm Witteman, H Morreau, Evelien Dekker, Hans Fa Vasen
BACKGROUND: Screening of patients with familial adenomatous polyposis (FAP) have led to a substantial reduction in mortality due to colorectal cancer (CRC). Recent guidelines suggest that surveillance of non-intestinal malignancies should also be considered in those patients. However, the value of these surveillance programmes is unknown. The aims of this study were (1) to assess the occurrence of extracolonic malignancies in a large series of adenomatous polyposis coli (APC) mutation carriers and (2) to evaluate the causes of death...
May 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28484856/-hereditary-gastric-and-pancreatic-cancer
#13
REVIEW
C Langner
Most cases of gastric and pancreatic cancer are sporadic, but familial clustering can be observed in approximately 10% of cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and two syndromes have been characterized: hereditary diffuse gastric cancer (HDGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Gastric and pancreatic cancer can develop in the setting of other hereditary cancer syndromes, such as hereditary breast and ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome, Lynch syndrome, familial adenomatous polyposis (FAP), or various hamartomatous polyposis syndromes, including juvenile polyposis and Peutz-Jeghers syndrome...
May 8, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28484271/inflammatory-state-exists-in-familial-amyloid-polyneuropathy-that-may-be-triggered-by-mutated-transthyretin
#14
Genki Suenaga, Tokunori Ikeda, Teruaki Masuda, Hiroaki Motokawa, Taro Yamashita, Kotaro Takamatsu, Yohei Misumi, Mitsuharu Ueda, Hirotaka Matsui, Satoru Senju, Yukio Ando
The relationship between familial amyloid polyneuropathy (FAP), which is caused by mutated transthyretin (TTR), and inflammation has only recently been noted. To determine whether inflammation is present in FAP carriers and patients, serum interleukin (IL)-6 concentration in 57 healthy donors (HD), 21 FAP carriers, and 66 FAP patients was examined, with the relationship between IL-6 and TTR assessed in each group by multiple regression analysis and structural equation models (SEM). Compared with HD, IL-6 concentration was elevated in FAP carriers (p = 0...
May 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28479268/progression-of-myocardial-sympathetic-denervation-assessed-by-123-i-mibg-imaging-in-familial-amyloid-polyneuropathy-and-the-effect-of-liver-transplantation
#15
Maria da Conceição Azevedo Coutinho, Nuno Cortez-Dias, Guilhermina Cantinho, Isabel Conceição, Tatiana Guimarães, Gustavo Lima da Silva, Miguel Nobre Menezes, Ana Rita Francisco, Rui Plácido, Fausto J Pinto
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare disease caused by systemic deposition of amyloidogenic variants of the transthyretin (TTR) protein. The TTR-V30M mutation is caused by the substitution of valine by methionine at position 30 and mainly affects the peripheral and autonomic nervous systems. Cardiovascular manifestations are common and are due to autonomic denervation and to amyloid deposition in the heart. Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP...
May 4, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28477167/cardiovascular-magnetic-resonance-myocardial-t1-mapping-to-detect-and-quantify-cardiac-involvement-in-familial-amyloid-polyneuropathy
#16
Seitaro Oda, Daisuke Utsunomiya, Kosuke Morita, Takeshi Nakaura, Hideaki Yuki, Masafumi Kidoh, Kenichiro Hirata, Narumi Taguchi, Noriko Tsuda, Shinya Shiraishi, Tomohiro Namimoto, Kyoko Hirakawa, Seiji Takashio, Yasuhiro Izumiya, Megumi Yamamuro, Seiji Hokimoto, Kenichi Tsujita, Mitsuharu Ueda, Taro Yamashita, Yukio Ando, Yasuyuki Yamashita
OBJECTIVES: This study sought to explore the potential role of non-contrast T1 mapping for the detection and quantification of cardiac involvement in familial amyloid polyneuropathy (FAP). METHODS: Japanese patients with FAP [n = 41, age 53.2 ± 13.9 years, genotype Val30Met (n = 25), non-Val30Met (n = 16)] underwent cardiac magnetic resonance imaging that included T1 mapping (saturation-recovery method) and late gadolinium-enhanced (LGE) imaging on a 3...
May 5, 2017: European Radiology
https://www.readbyqxmd.com/read/28475311/targeting-and-internalization-of-liposomes-by-bladder-tumor-cells-using-a-fibronectin-attachment-protein-derived-peptide-lipopolymer-conjugate
#17
Young Lee, Erin Kischuk, Scott Crist, Timothy L Ratliff, David H Thompson
A synthetic peptidolipopolymer conjugate, incorporated into liposomes to promote specific binding to the fibronectin (FBN) matrix surrounding bladder tumor cells and promote cellular internalization of FBN-integrin complexes, is reported. The peptide promotes association with MB49 mouse model bladder tumor cells in a sequence-specific and concentration-dependent manner, with the maximum cell association occurring at 2 mol % RWFV-PEG2000-DSPE. Double PEGylation of the liposome membrane (i.e., 4 mol % mPEG1000-DSPE + 2 mol % RWFV-PEG2000-DSPE) enhanced binding by >1...
May 5, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/28474162/-hereditary-colorectal-cancer-an-update-on-genetics-and-entities-in-terms-of-differential-diagnosis
#18
REVIEW
T T Rau, H Dawson, A Hartmann, J Rüschoff
The pathologist can contribute to recognizing hereditary causes of colorectal cancer via morphology. By identifying so-called index patients, it is possible to take preventive measures in affected families. The precise definition of the clinical presentation and the histopathological phenotype help to narrow the spectrum of expected genetic alterations. Novelties within Lynch syndrome include the recognition of EPCAM as a fifth gene locus, as well as the newly defined Lynch-like syndrome with evidence of somatic mismatch repair (MMR) mutations...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28467793/the-different-pathogeneses-of-sporadic-adenoma-and-adenocarcinoma-in-non-ampullary-lesions-of-the-proximal-and-distal-duodenum
#19
Ayumi Niwa, Seiya Kuwano, Hiroyuki Tomita, Keita Kimura, Yukiya Orihara, Tomohiro Kanayama, Kei Noguchi, Kenji Hisamatsu, Takayuki Nakashima, Yuichiro Hatano, Akihiro Hirata, Tatsuhiko Miyazaki, Kazuhiro Kaneko, Takuji Tanaka, Akira Hara
Non-ampullary duodenal adenoma with activation of Wnt/β-catenin signalling is common in familial adenomatous polyposis (FAP) patients, whereas sporadic non-ampullary adenoma is uncommon. The adenoma-carcinoma sequence similar to colon cancer is associated with duodenal tumors in FAP, but not always in sporadic tumors. We obtained 37 non-ampullary duodenal tumors, including 25 adenomas and 12 adenocarcinomas, were obtained from biopsies and endoscopic resections. We performed immunohistochemistry for β-catenin, the hallmark of Wnt activation, and aldehyde dehydrogenase 1 (ALDH1), a putative cancer stem cell marker...
April 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28462913/a-clinicopathologic-evaluation-of-incidental-fundic-gland-polyps-with-dysplasia-implications-for-clinical-management
#20
Isaac E Lloyd, Wendy K Kohlmann, Keith Gligorich, Amy Hall, Elaine Lyon, Erinn Downs-Kelly, Wade S Samowitz, Mary P Bronner
OBJECTIVES: Fundic gland polyps (FGPs) can rarely exhibit dysplasia of the surface epithelium. Based on retrospective data, FGPs with dysplasia (FGPDs) are thought to be a strong marker for familial adenomatous polyposis (FAP), although sporadic, non-syndromic FGPDs also occur. Owing to the significant syndromic association, diagnosis of an apparently sporadic FGPD may prompt clinical evaluation for FAP, especially its attenuated variant. We sought to evaluate the positive predictive value of incidental FGPDs for FAP...
May 2, 2017: American Journal of Gastroenterology
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