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https://www.readbyqxmd.com/read/28075483/detecting-apc-gene-mutations-in-familial-adenomatous-polyposis-fap
#1
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/28073942/emergency-department-visits-related-to-functional-abdominal-pain-in-the-pediatric-age-group
#2
Chaitanya Pant, Abhishek Deshpande, Thomas J Sferra, Mojtaba Olyaee
To analyze visits to and admissions from the emergency department (ED) in children with a primary diagnosis of functional abdominal pain (FAP). This was a cross-sectional study using data from the Nationwide Emergency Department Sample (HCUP-NEDS 2008-2012). FAP-related ED visits were identified using International Classification of Diseases, Ninth Revision, Clinical Modification codes. The most frequent secondary diagnoses associated with FAP-related ED visits were also extracted. In 2012, a total of 796,665 children presented to the ED with a primary diagnosis of FAP...
January 10, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/28063352/a-tumor-targeted-activatable-phthalocyanine-tetrapeptide-doxorubicin-conjugate-for-synergistic-chemo-photodynamic-therapy
#3
Mei-Rong Ke, Shao-Fang Chen, Xiao-Hui Peng, Qiao-Feng Zheng, Bi-Yuan Zheng, Chih-Kuang Yeh, Jian-Dong Huang
Chemo-photodynamic therapy is a promising strategy for cancer treatments. However, it remains a challenge to develop a chemo-photodynamic therapeutic agent with little side effect, high tumor-targeting, and efficient synergistic effect simultaneously. Herein, we report a zinc(II) phthalocyanine (ZnPc)-doxorubicin (DOX) prodrug linked with a fibroblast activation protein (FAP)-responsive short peptide with the sequence of Thr-Ser-Gly-Pro for chemo-photodynamic therapy. In the conjugate, both photosensitizing activity of ZnPc and cytotoxicity of DOX are inhibited obviously...
December 29, 2016: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28063170/assessing-mnis-7ionis-and-international-neurologists-proficiency-in-an-fap-trial
#4
Peter J Dyck, John C Kincaid, P James B Dyck, Vinay Chaudhry, Namita A Goyal, Christina Alves, Hayet Salhi, Janice F Wiesman, Celine Labeyrie, Jessica Robinson-Papp, Márcio Cardoso, Matilde Laura, Katherine Ruzhansky, Andrea Cortese, Thomas H Brannagan, Julie Khoury, Sami Khella, Márcia Waddington-Cruz, João Ferreira, Annabel K Wang, Marcus V Pinto, Samar S Ayache, Merrill D Benson, John L Berk, Teresa Coelho, Michael Polydefkis, Peter Gorevic, David H Adams, Violaine Plante-Bordeneuve, Carol Whelan, Giampaolo Merlini, Stephen Heitner, Brian M Drachman, Isabel Conceição, Christopher J Klein, Morie A Gertz, Elizabeth J Ackermann, Steven G Hughes, Michelle L Mauermann, Rito Bergemann, Karen A Lodermeier, Jenny L Davies, Rickey E Carter, William J Litchy
INTRODUCTION: Polyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis ), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial. METHODS: We assessed: 1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and 2) clinometric performance of mNIS+7Ionis and its subscores and correlation with disability and health scores...
January 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28051995/in-vitro-modelling-of-familial-amyloidotic-polyneuropathy-allows-quantitative-detection-of-transthyretin-amyloid-fibril-like-structures-in-hepatic-derivatives-of-patient-specific-induced-pluripotent-stem-cells
#5
Jeannine Hoepfner, Mandy Kleinsorge, Oliver Papp, Susanne Alfken, Robin Heiringhoff, Andreas Pich, Vanessa Sauer, Andree Zibert, Gudrun Göhring, Hartmut Schmidt, Malte Sgodda, Tobias Cantz
The transthyretin protein is thermodynamically destabilised by mutations in the transthyretin gene, promoting the formation of amyloid fibrils in various tissues. Consequently, impaired autonomic organ function is observed in patients suffering from transthyretin-related Familial Amyloidotic Polyneuropathy (FAP). The influence of individual genetic backgrounds on fibril formation as a potential cause of genotype-phenotype variations needs to be investigated in order to ensure efficient patient-specific therapies...
January 4, 2017: Biological Chemistry
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
#6
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/28027646/protein-nanocage-mediated-fibroblast-activation-protein-targeted-photoimmunotherapy-to-enhance-cytotoxic-t-cell-infiltration-and-tumor-control
#7
Zipeng Zhen, Wei Tang, Mengzhe Wang, Shiyi Zhou, Hui Wang, Zhanhong Wu, Zhonglin Hao, Zibo Li, Lin Liu, Jin Xie
Carcinoma-associated fibroblasts (CAFs) are found in many types of cancer and play an important role in tumor growth and metastasis. Fibroblast-activation protein (FAP), which is overexpressed on the surface of CAFs, has been proposed as a universal tumor targeting antigen. However, recent studies show that FAP is also expressed on multipotent bone marrow stem cells. A systematic anti-FAP therapy may lead to severe side effects and even death. Hence, there is an urgent need of a therapy that can selectively kill CAFs without causing systemic toxicity...
January 4, 2017: Nano Letters
https://www.readbyqxmd.com/read/28018803/neonatal-gardner-fibroma-leads-to-detection-of-familial-adenomatous-polyposis-two-case-reports
#8
Mattias Schäfer, Martina Kadmon, Wolfgang Schmidt, Irmgard Treiber, Ute Moog, Christian Sutter, Maximilian Stehr
Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated with APC gene mutations and therefore with familial adenomatous polyposis (FAP). So far there is only very limited literature on GF in the neonatal period. We present two children with GF diagnosed at birth and subsequent FAP with very different clinical courses. In one case, the disease led to extensive surgery of the thoracic wall and detection of FAP in the father with the need of immediate proctocolectomy...
December 2016: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28012326/a-case-report-of-desmoid-tumour-a-forgotten-aspect-of-fap
#9
Sarah Xuereb, Rachel Xuereb, Chiara Buhagiar, Jonathan Gauci, Claude Magri
INTRODUCTION: Desmoid tumours are locally aggressive tumours which are common in Familial Adenomatous Polyposis (FAP). PRESENTATION OF CASE: A 20-year old Familial Adenomatous Polyposis (FAP) patient presented with abdominal pain and distention. Abdominal imaging showed small bowel obstruction and hydronephrosis due to a pelvic mass. This mass showed significant enlargement on repeat imaging, and a diagnostic biopsy confirmed desmoid tumour. The mass was deemed unresectable and he was initially started on sulindac and raloxifene...
December 1, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28010732/the-effect-of-a-germline-mutation-in-the-apc-gene-on-%C3%AE-catenin-in-human-embryonic-stem-cells
#10
Nofar Yedid, Yael Kalma, Mira Malcov, Ami Amit, Revital Kariv, Michal Caspi, Rina Rosin-Arbesfeld, Dalit Ben-Yosef
BACKGROUND: Most cases of colorectal cancer (CRC) are initiated by inactivation mutations in the APC gene, which is a negative regulator of the Wnt-β-catenin pathway. Patients with familial adenomatous polyposis (FAP) inherit a germline mutation in one APC allele, and loss of the second allele leads to the development of polyps that will turn malignant if not removed. It is not fully understood which molecular mechanisms are activated by APC loss and when the loss of the second APC allele occurs...
December 23, 2016: BMC Cancer
https://www.readbyqxmd.com/read/28008691/effects-of-functional-analytic-psychotherapy-therapist-training-on-therapist-factors-among-therapist-trainees-in-singapore-a-randomized-controlled-trial
#11
Shian-Ling Keng, Emma Waddington, Xiangting Bernice Lin, Michelle Su Qing Tan, Clare Henn-Haase, Jonathan W Kanter
: Functional Analytic Psychotherapy (FAP) is a behavioral psychotherapy intervention that emphasizes the development of an intimate and intense therapeutic relationship as the vehicle of therapeutic change. Recently, research has provided preliminary support for a FAP therapist training (FAPTT) protocol in enhancing FAP competency. The present study aimed to expand on this research by examining the effects of FAPTT on FAP-specific skills and competencies and a set of broadly desirable therapist qualities (labelled awareness, courage and love in FAPTT) in a sample of therapist trainees in Singapore...
December 23, 2016: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/28008219/introduction-to-using-structured-evocative-activities-in-functional-analytic-psychotherapy
#12
Kimberly M Nelson, Joyce P Yang, Ashley C Maliken, Mavis Tsai, Robert J Kohlenberg
Functional Analytic Psychotherapy (FAP) focuses on what happens in session between clients and therapists in order to create more intense and curative therapeutic relationships. FAP may be used as a standalone treatment or as an adjunct to other therapies in order to maximize therapeutic gains through strengthened alliance and differential reinforcement. When it fits within a client's case conceptualization, FAP clinicians often choose to use structured, evocative activities to progress the therapy at a faster pace...
November 2016: Cognitive and Behavioral Practice
https://www.readbyqxmd.com/read/28005441/integrated-information-visualization-to-support-decision-making-in-order-to-strengthen-communities-design-and-usability-evaluation
#13
Puangrat Jinpon, Mullica Jaroensutasinee, Krisanadej Jaroensutasinee
Community well-being refers to the qualities of an optimally healthy community life. This is the ultimate goal of all the various processes and strategies created to meet the needs of people living together in communities. We propose a holistic integrated visualization, in the form of a community well-being assessment system, as a web-based advanced tool to be used by the executive and health officers of the sub-district administration organization (SAO) network to improve decision-making in order to strengthen their communities...
December 22, 2016: Informatics for Health & Social Care
https://www.readbyqxmd.com/read/28004985/cyclophosphamide-enhances-anti-tumor-effects-of-a-fibroblast-activation-protein-%C3%AE-based-dna-vaccine-in-tumor-bearing-mice-with-murine-breast-carcinoma
#14
Qiu Xia, Fei Geng, Fang-Fang Zhang, Chen-Lu Liu, Ping Xu, Zhen-Zhen Lu, Yu Xie, Bo Sun, Hui Wu, Bin Yu, Wei Kong, Xiang-Hui Yu, Hai-Hong Zhang
Cyclophosphamide (CY) is a DNA alkylating agent, which is widely used with other chemotherapy drugs in the treatment of various types of cancer. It can be used not only as a chemotherapeutic but also as an immunomodulatory agent to inhibit IL-10 expression and T regulatory cells (Tregs). Fibroblast activation protein α (FAPα) is expressed in cancer-associated fibroblasts in the tumor microenvironment. Immunotherapy based on FAPα, as a tumor stromal antigen, typically induces specific immune response targeting the tumor microenvironment...
December 22, 2016: Immunopharmacology and Immunotoxicology
https://www.readbyqxmd.com/read/28002446/the-agaricus-blazei-based-mushroom-extract-andosan%C3%A2-protects-against-intestinal-tumorigenesis-in-the-a-j-min-mouse
#15
Geir Hetland, Dag M Eide, Jon M Tangen, Mads H Haugen, Mohammad R Mirlashari, Jan E Paulsen
BACKGROUND: The novel A/J Min/+ mouse, which is a model for human Familial Adenomatous Polyposis (FAP), develops spontaneously multiple adenocarcinomas in the colon as well as in the small intestine. Agaricus blazei Murill (AbM) is an edible Basidiomycetes mushroom that has been used in traditional medicine against cancer and other diseases. The mushroom contains immunomodulating β-glucans and is shown to have antitumor effects in murine cancer models. Andosan™ is a water extract based on AbM (82%), but it also contains the medicinal Basidiomycetes mushrooms Hericeum erinaceus and Grifola frondosa...
2016: PloS One
https://www.readbyqxmd.com/read/28001074/mesoscopic-correlation-functions-in-heterogeneous-ionic-liquids
#16
Henning Weiss, Julian Mars, Hailong Li, Gunnar Kircher, Oxana Ivanova, Artem Feoktystov, Olaf Soltwedel, Markus Bier, Markus Mezger
A common feature of ionic liquids composed of cations with long aliphatic side chains is structural heterogeneities on the nanometer length scale. This so-called microphase separation arises from the clustering of aliphatic moieties. The temperature dependence of the liquid bulk structure was studied by small-angle X-ray and neutron scattering for a set of methylimidazolium ([C18C1im](+), [C22C1im](+)) based ionic liquids with tris(pentafluoroethyl)trifluorophosphate ([FAP](-)), bis(trifluoromethylsulfonyl)imide ([NTf2](-)), and bis(nonafluorobutylsulfonyl)imide ([NNf2](-)) anions...
January 12, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28000149/fibro-adipogenic-progenitors-safeguard-themselves-a-novel-mechanism-to-reduce-fibrosis-is-discovered
#17
Osvaldo Contreras, Enrique Brandan
PDGFRα regulates several cellular processes, and exacerbated PDGF signaling cause fibrosis in different tissues. Different research groups have shown that fibro/adipogenic progenitors (FAPs) are responsible for pathological fibrosis found in skeletal muscle disorders. Rando's Lab describes that an intronic polyadenylation of Pdgfra regulates FAPs activity, and therefore fibrosis. This discovery opens a new potential target for treating fibrosis.
December 20, 2016: Journal of Cell Communication and Signaling
https://www.readbyqxmd.com/read/27999756/advancing-targeted-co-stimulation-with-antibody-fusion-proteins-by-introducing-tnf-superfamily-members-in-a-single-chain-format
#18
Sina Fellermeier, Nadine Beha, Jan-Erik Meyer, Sarah Ring, Stefan Bader, Roland E Kontermann, Dafne Müller
Co-stimulation via receptors of the tumor necrosis factor superfamily (TNFSF) emerges as promising strategy to support antitumor immune responses. Targeted strategies with antibody-fusion proteins composed of a tumor-directed antibody part and the extracellular domain of a co-stimulatory ligand of the TNFSF constitute an attractive option to focus the co-stimulatory activity to the tumor site. Since TNFSF members intrinsically form functional units of non-covalently linked homotrimers, the protein engineering of suitable antibody-fusion proteins is challenging...
2016: Oncoimmunology
https://www.readbyqxmd.com/read/27992662/parental-perception-of-their-child-s-quality-of-life-in-children-with-non-immunoglobulin-e-mediated-gastrointestinal-allergies
#19
R X Foong, R Meyer, H Godwin, R Dziubak, A C Lozinsky, K Reeve, R Knibb, N Shah
BACKGROUND: Food allergy can have a significant impact on health related quality of life (HRQoL). Parental proxy questionnaires are commonly used when children are too young to complete questionnaires themselves. Little data is available on HRQoL in children with non-IgE-mediated gastrointestinal food allergy (GIFA). The aim of this study was to evaluate HRQoL in these children by parent proxy. METHODS: A cross-sectional questionnaire study was conducted with children 2-16 years old with confirmed (GIFA)...
December 19, 2016: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/27991017/-proctocolectomy-with-j-pouch-ileo-anal-anastomosis-performed-with-pph-stapler-our-experiences-after-88-cases
#20
Csaba Berki, Elemér Mohos, György Réti, Tamás Kovács, Zoltán Jánó, József Mohay, Sándor Horváth, Gábor Bognár, Krisztina Bene, Myroslav Horzov, Gábor Sándor, Gábor Tornai, Petra Mohos, Péter Szenkovits, Tibor Nagy, Csaba Orbán, Vivien Herpai, Attila Nagy
AIM: Ulcerative colitis (CU) or Familiar Polyposis (FAP) can be the indication for proctocolectomy reconstructed with J pouch. The complete removal of the colon mucosa is essential regarding the late complications and at the same time the atraumatic surgical technique is very important concerning on the long term functional results. Both aspects seems to be answered by the stapled ileo-anal anastomosis using a "procedure for prolaps and haemorrhoids (PPH)" stapler applied by us since 2000...
December 2016: Magyar Sebészet
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