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https://www.readbyqxmd.com/read/27901488/cancer-associated-fibroblasts-promote-cancer-cell-growth-through-a-mir-7-rassf2-par-4-axis-in-the-tumor-microenvironment
#1
Zongze Shen, Xing Qin, Ming Yan, Rongrong Li, Gang Chen, Jianjun Zhang, Wantao Chen
Cancer-associated fibroblasts (CAFs), a major component of cancer stroma, play an important role in cancer progression but little is known about how CAFs affect tumorigenesis and development. MicroRNAs (miRNAs) are small non-coding RNAs that can negatively regulate target mRNA expression at post-transcriptional levels. In head and neck cancer (HNC), our analysis of miRNA arrays showed that miR-7, miR-196 and miR-335 were significantly up-regulated in CAFs when compared with their paired normal fibroblasts (NFs)...
November 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27894125/intronic-polyadenylation-of-pdgfr%C3%AE-in-resident-stem-cells-attenuates-muscle-fibrosis
#2
Alisa A Mueller, Cindy T van Velthoven, Kathryn D Fukumoto, Tom H Cheung, Thomas A Rando
Platelet-derived growth factor receptor α (PDGFRα) exhibits divergent effects in skeletal muscle. At physiological levels, signalling through this receptor promotes muscle development in growing embryos and angiogenesis in regenerating adult muscle. However, both increased PDGF ligand abundance and enhanced PDGFRα pathway activity cause pathological fibrosis. This excessive collagen deposition, which is seen in aged and diseased muscle, interferes with muscle function and limits the effectiveness of gene- and cell-based therapies for muscle disorders...
November 28, 2016: Nature
https://www.readbyqxmd.com/read/27891388/desmoid-tumours-in-familial-adenomatous-polyposis-review-of-17-patients-from-a-portuguese-tertiary-center
#3
Marco Santos, Anabela Rocha, Vilma Martins, Marisa Santos
INTRODUCTION: Desmoid Tumours (DT) are benign tumours with an estimated incidence of 2-4 per million per year. Between 7-16% of them are associated with Familial Adenomatous Polyposis (FAP) and are mostly parietal or intra-abdominal. They are a challenge in relation to their unpredictable natural course, associated complications and difficult treatment. AIM: The aim of the present study was to review the occurrence, management and follow-up of DT on FAP patients treated consecutively at a tertiary care center...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27890852/adenocarcinoma-arising-from-an-end-ileostomy-in-a-patient-with-familial-adenomatous-polyposis-fap
#4
Justin T Huntington, Peter P Stanich, Alan E Harzman
No abstract text is available yet for this article.
November 24, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27889201/expression-of-fibroblast-activating-protein-and-correlation-with-histological-grade-mitotic-index-and-ki67-expression-in-canine-mast-cell-tumours
#5
A Giuliano, R Dos Santos Horta, F Costantino-Casas, T Hoather, J Dobson
Fibroblast activating protein (FAP) is a membrane serine protease expressed by activated fibroblasts, particularly tumour associated fibroblasts (TAFs). FAP expression has not been reported in canine mast cell tumours (MCTs). The objective of this study was to evaluate the expression of FAP in TAFs and its correlation with histological grade, mitotic index and Ki67 expression in canine MCTs. FAP expression was evaluated by immunohistochemistry (IHC) in 30 canine MCTs. Twenty-eight (90%) of the MCTs expressed FAP in the stroma, 16 cases showed low to intermediate FAP score and 14 cases had a high FAP score...
November 24, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/27884058/efficiency-of-silencing-rna-for-removal-of-transthyretin-v30m-in-a-ttr-leptomeningeal-animal-model
#6
Paula Gonçalves, Helena Martins, Susete Costelha, Luis F Maia, Maria Joao Saraiva
Some TTR mutants target the central nervous system (CNS). Familial amyloid polyneuropathy (FAP) with leptomeningeal involvement has been described in 9% of transthyretin (TTR) mutations and in valine for methionine at position 30 (V30M) patients. These individuals present dementia, ataxia, brain hemorrhages and focal neurological episodes (FNEs). FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment...
November 24, 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27878441/long-term-treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-clinical-and-neurophysiological-study
#7
Violaine Planté-Bordeneuve, Farida Gorram, Hayet Salhi, Tarik Nordine, Samar S Ayache, Philippe Le Corvoisier, Daniel Azoulay, Cyrille Feray, Thibaud Damy, Jean-Pascal Lefaucheur
Tafamidis is a transthyretin (TTR) stabilizer recently approved to slow the neurologic impairment in TTR familial amyloid polyneuropathy (TTR-FAP). The pivotal studies on Tafamidis reported encouraging results on the short term, in the early onset Val30Met-TTR-FAP patients at an early stage of the neuropathy. However, the effect of the drug in the non-Val30Met patients, at a more advanced stage of the disease and on the long term, is less known. In this study, we report the effect of Tafamidis in 43 TTR-FAP patients with a variety of pathogenic mutations, including 53% of non-Val30Met variants, at different stages of neuropathy followed on the long term...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27873215/current-and-future-treatment-approaches-in-transthyretin-familial-amyloid-polyneuropathy
#8
REVIEW
Philippe Kerschen, Violaine Planté-Bordeneuve
Treatment of transthyretin familial amyloid polyneuropathy (TTR FAP) must be tailored to disease stage. Patients with early stage disease (i.e., without major impairment in walking ability), especially younger patients, should be referred as soon as possible for liver transplantation (LT) in the absence of major comorbid conditions. LT remains the most effective treatment option to date and should be offered to these patients as early as possible. Bridging therapy with an oral TTR stabilizer (tafamidis or diflunisal, according to local access to these treatments) should be started as soon as the diagnosis of TTR FAP is established...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27872470/hereditary-amyloidosis-with-recurrent-lung-infiltrates
#9
Alberto E Revelo, Crischelle Magaspi, George Maguire, Wilbert S Aronow
BACKGROUND Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). Rarely, this form manifests with clinical and radiologically relevant respiratory tract symptoms and lung involvement...
November 22, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27870147/management-strategies-in-lynch-syndrome-and-familial-adenomatous-polyposis-a-national-healthcare-survey-in-japan
#10
Tomoki Yamano, Michiko Hamanaka, Akihito Babaya, Kei Kimura, Masayoshi Kobayashi, Miki Fukumoto, Kiyoshi Tsukamoto, Masafumi Noda, Nagahide Matsubara, Naohiro Tomita, Kenichi Sugihara
Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and associated with other malignancies. There is some heterogeneity in management strategies in Japan. We performed a survey of management of hereditary CRC in hospitals that are members of the Japan Society of Colorectal Cancer Research (JSCCR). One hundred and ninety departments responded, of which 127 were from designated cancer care hospitals (DCCHs) according to the Japanese government. There were 25 488 operations for CRC in these departments in 2015...
November 21, 2016: Cancer Science
https://www.readbyqxmd.com/read/27869469/saying-good-goodbyes-to-your-clients-a-functional-analytic-psychotherapy-fap-perspective
#11
Mavis Tsai, Tore Gustafsson, Jonathan Kanter, Mary Plummer Loudon, Robert J Kohlenberg
Functional analytic psychotherapy (FAP) promotes client growth by shaping clients' daily life problems that also show up in session with their therapists. FAP therapists create evocative contexts within therapy that afford clients the opportunity to practice, refine, and be reinforced for new, more adaptive behaviors which then can be generalized into their outside lives. In FAP, the termination process will vary from client to client depending on the nature of the client's problems and targets. For many clients, the process can be a rich, multifaceted, final opportunity to evoke, reinforce, and promote generalization of clients' in-session improvements, particularly improvements related to vulnerable self-expression in the service of intimate and close relationships...
November 21, 2016: Psychotherapy
https://www.readbyqxmd.com/read/27859927/clinical-features-of-familial-amyloid-polyneuropathy-carrying-transthyretin-mutations-in-four-chinese-kindreds
#12
Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p...
November 17, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27848118/minor-salivary-gland-biopsy-for-the-diagnosis-of-familial-amyloid-polyneuropathy
#13
Fernanda de Paula Eduardo, Letícia de Mello Bezinelli, Danielle Lima Corrêa de Carvalho, Bianca Della-Guardia, Marcio Dias de Almeida, Lidiane Vieira Marins, Luciana Corrêa
The diagnosis of Val30Met familial amyloidotic polyneuropathy (FAP) is based on genetic tests, clinical manifestations, familial history and biopsy of peripheral tissues (e.g. rectum, abdominal fat pad, sural nerve, and minor salivary gland) to confirm the presence of amyloid deposits. The aim of this study was to determine the frequency of amyloid deposits in minor salivary glands biopsied from FAP patients and to investigate whether an association exists between the presence of these deposits and clinical features...
November 15, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27844202/does-routine-colonoscopy-help-diagnose-familial-adenomatous-polyposis-in-patients-presenting-with-desmoid-tumors-but-no-gastrointestinal-symptoms
#14
Rumi Shin, Hwan-Seong Cho, Duck-Woo Kim, So Yeon Ahn, Myong Hoon Ihn, Hyo Jin Park, Heung-Kwon Oh, Sung-Bum Kang
PURPOSE: Desmoid tumor (DT) is a rare myofibroblastic proliferative neoplasm, but can occur in up to 26% of patients with familial adenomatous polyposis (FAP). Therefore, DT may be an extraintestinal manifestation of FAP that precedes the development of advanced malignancies. The aim of this study was to identify the incidence of polyps in DT patients and investigate value of colonoscopy for diagnosis of FAP in DT patients without gastrointestinal symptoms. MATERIALS AND METHODS: The records of patients diagnosed with DT were retrospectively reviewed using the clinical data warehouse (CDW) system...
November 14, 2016: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/27833394/two-cases-of-adenocarcinoma-occurring-in-sporadic-fundic-gland-polyps-observed-by-magnifying-endoscopy-with-narrow-band-imaging
#15
Kazumi Togo, Tetsuya Ueo, Hirotoshi Yonemasu, Hideho Honda, Tetsuya Ishida, Hiroshi Tanabe, Kenshi Yao, Akinori Iwashita, Kazunari Murakami
Gastric fundic gland polyps (FGPs) are common non-adenomatous gastric polyps arising from normal fundic mucosa without Helicobacter pylori (H. pylori) infection. Although systemic FGPs associated with familial adenomatous polyposis (FAP) often have dysplasia, there are few reports of dysplasia occurring in sporadic FGPs, especially when detected by magnifying endoscopy with narrow band imaging (ME-NBI). We experienced two cases of adenocarcinoma occurring in sporadic FGPs, and their ME-NBI findings were very useful for differentiating FGP with cancer from non-dysplastic FGP...
October 28, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27826806/uptake-of-prenatal-diagnostic-testing-for-retinoblastoma-compared-to-other-hereditary-cancer-syndromes-in-the-netherlands
#16
Charlotte J Dommering, Lidewij Henneman, Annemarie H van der Hout, Marianne A Jonker, Carli M J Tops, Ans M W van den Ouweland, Rob B van der Luijt, Arjen R Mensenkamp, Frans B L Hogervorst, Egbert J W Redeker, Christine E M de Die-Smulders, Annette C Moll, Hanne Meijers-Heijboer
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families...
November 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27822268/noninvasive-diagnosis-of-hepatic-steatosis-using-fat-attenuation-parameter-measured-by-fibrotouch-and-a-new-algorithm-in-chb-patients
#17
Hong Deng, Chun-Ling Wang, Jing Lai, Su-Lin Yu, Dong-Ying Xie, Zhi-Liang Gao
BACKGROUND: Chronic hepatitis B (CHB) remains a major public health problem worldwide, and the prevalence of CHB patients with hepatic steatosis is gradually increasing. Noninvasive approaches for the assessment of hepatic steatosis have been developed as alternatives to liver biopsy. OBJECTIVES: This study evaluated the diagnostic performance of the fat attenuation parameter (FAP) measured by transient elastography (FibroTouch) and a new algorithm to assess hepatic steatosis in CHB patients, in comparison to liver biopsy as the gold standard...
September 2016: Hepatitis Monthly
https://www.readbyqxmd.com/read/27818810/familial-adenomatous-polyposis-manifesting-as-lactococcus-endocarditis-a-case-report-and-review-of-the-association-of-lactococcus-with-underlying-gastrointestinal-disease
#18
Taylor C Bazemore, Stacey A Maskarinec, Kahli Zietlow, Edward F Hendershot, John R Perfect
A 45-year-old male with a prosthetic aortic valve presented to the hospital with several months of generalized malaise. On admission, he was noted to have anemia of unclear etiology and subsequently became febrile with multiple blood cultures growing Lactococcus garvieae. Inpatient workup was concerning for infectious endocarditis (IE) secondary to Lactococcus. The patient was discharged home with appropriate antimicrobial therapy; however, he was readmitted for persistent, symptomatic anemia and underwent colonoscopy, which revealed innumerable colonic polyps consistent with Familial Adenomatous Polyposis (FAP) that was later confirmed with genetic testing...
2016: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/27817025/expression-of-the-fap-gene-in-non-fibroblast-human-cell-lines-development-of-cancer-associated-fibroblast-models
#19
D V Tyulkina, V V Pleshkan, I V Alekseenko, M R Kopantseva, E D Sverdlov
The fibroblast activation protein (FAP) is selectively expressed in cancer-associated fibroblasts (CAFs) and facilitates tumor progression, which makes this protein an attractive therapeutic target. There are difficulties in obtaining CAFs for studying the function and suppression of FAP. In this work, the expression level of FAP was determined by PCR assay in 25 human cell lines and 8 surgical samples of tumor stroma. The expression of FAP was observed in all tumor stroma samples and in four cell lines: NGP-127, SJCRH30, SJSA-1, and A375...
September 2016: Doklady. Biochemistry and Biophysics
https://www.readbyqxmd.com/read/27816449/a-missense-methionine-mutation-augments-catalytic-activity-but-reduces-thermal-stability-in-two-protein-tyrosine-phosphatases
#20
Anthony C Bishop
Recent data sets that catalog the missense mutations in thousands of human genomes have revealed a vast and largely unexplored world of non-canonical protein sequences that are expressed in humans. The functional consequences of most human missense mutations, however, are unknown, and the accuracy with which their effects can be predicted by computational algorithms remains unclear. Among humans of European descent, the most common missense mutation in the catalytic domain of SH2-containing protein tyrosine phosphatase 1 (SHP-1) converts the enzyme's canonical valine 451 to methionine (V451M)...
December 2, 2016: Biochemical and Biophysical Research Communications
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