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https://www.readbyqxmd.com/read/29052096/life-paths-of-patients-with-transthyretin-related-familial-amyloid-polyneuropathy-val30met-a-descriptive-study
#1
Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Teresa Coelho, Jorge Sequeiros, Paula Freitas
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood and is a disabling disease, posing a great psychological burden to patients and their families. Our aim was to describe and characterize life events related to the disease and discuss its psychosocial implications. Social and demographic data and a questionnaire on history of family and personal disease, and biographic events, were applied to 209 subjects attending an outpatient specialized clinic...
October 19, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29050191/-the-ocular-involvement-in-the-transthyretin-related-familial-amyloid-polyneuropathy
#2
H Y Lin, R P Dai
Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP), which is caused by mutant TTR, is a rare but fatal autosomal dominant disease. TTR is synthesized by the liver (95%) , the choroid plexus of the brain and the retinal pigment epithelium. FAP leads to peripheral neuropathy, and the main ocular manifestations are vitreous opacity (yellowish cotton-like), secondary glaucoma and keratoconjunctivitis sicca. Liver transplantation has proven to be the most effective treatment for TTR-FAP. Nowadays, tafamidis is the only drug approved for TTR-FAP (early stage)...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29049337/factors-affecting-pouch-related-outcomes-after-restorative-proctocolectomy
#3
Gyoung Tae Noh, Jeonghee Han, Min Soo Cho, Hyuk Hur, Byung Soh Min, Kang Young Lee, Nam Kyu Kim
PURPOSES: Restorative proctocolectomy (RPC) with ileal pouch anal anastomosis (IPAA) is the procedure of choice for patients with familial adenomatous polyposis (FAP) and ulcerative colitis (UC) despite morbidities that can lead to pouch failure. We aimed to identify factors associated with pouch-related morbidities. METHODS: A retrospective analysis of patients who underwent RPC with IPAA was performed. To investigate the factors associated with pouch-related morbidities, patients' preoperative demographic and clinical factors, and intraoperative factors were included in the analysis...
2017: PloS One
https://www.readbyqxmd.com/read/29048302/pre-symptomatic-testing-for-neurodegenerative-disorders-middle-to-long-term-psychopathological-impact
#4
Susana Lêdo, Ângela Leite, Teresa Souto, Maria A Pimenta Dinis, Jorge Sequeiros
BACKGROUND: Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for late-onset diseases, such as Huntington’s disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact of PST for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (DMJ) and familial amyloid polyneuropathy (FAP). METHOD: The study included 203 subjects: 170 (84%) agreed to make the PST for FAP, 29 (14%) for HD and 4 (2%) for MJD...
November 2017: Psicothema
https://www.readbyqxmd.com/read/29026543/from-gardner-fibroma-diagnosis-to-constitutional-apc-mutation-detection-a-one-way-street
#5
Claudia Santoro, Teresa Giugliano, Delfina Bifano, Carolina D'Anna, Vittoria D'Onofrio, Silverio Perrotta
We report a young child without a family history of FAP, who promptly underwent APC testing after the histological confirmation of a paraspinal GAF that was not isolated. Our case report reinforces the suggestion advanced by previous authors for an APC analysis in all patients with GAF.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29026005/low-expression-of-mir-30a-5p-induced-the-proliferation-and-invasion-of-oral-cancer-via-promoting-the-expression-of-fap
#6
Peng Ruan, Aili Tan, Zezhang Tao
The study aimed at investigating the effects of miR-30a-5p on the biological functions of oral cancer cells and figuring out the potential mechanism. We firstly verified the low expression of miR-30a-5p and high expression of FAP (Homo sapiens fibroblast activation protein alpha) in oral cancerous tissues and their negative correlation. Then, the target relationship between miR-30a-5p and FAP was validated by dual luciferase reporter assay and biotin-coupled miRNA pulldown assay. After transfection in Tca-8113 cells and SCC-15 cells, MTT, colony formation, Transwell and wound healing assays were performed to investigate how miR-30a-5p and FAP adjusted propagation, invasiveness and migration respectively...
October 12, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29025969/a-versatile-optical-tool-for-studying-synaptic-gabaa-receptor-trafficking
#7
Joshua M Lorenz-Guertin, Madeleine R Wilcox, Ming Zhang, Mads B Larsen, Jyotsna Pilli, Brigitte F Schmidt, Marcel P Bruchez, Jon W Johnson, Alan S Waggoner, Simon C Watkins, Tija C Jacob
Live-cell imaging methods can provide critical real-time receptor trafficking measurements. Here we describe an optical tool to study synaptic GABAA receptor (GABAAR) dynamics using adaptable fluorescent tracking capabilities. A fluorogen-activating peptide (FAP) was genetically inserted into a γ2 subunit tagged with pH-sensitive green fluorescent protein (γ2(pH)FAP). The FAP selectively binds and activates malachite green (MG) dyes that are otherwise non-fluorescent in solution. γ2(pH)FAP GABAARs are expressed at the cell surface in transfected cortical neurons, form synaptic clusters, and do not perturb neuronal development...
October 12, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/29021452/a-case-of-familial-adenomatous-polyposis-with-multiple-helicobacter-negative-early-gastric-cancers-treated-by-endoscopic-submucosal-dissection
#8
Katsuki Yaguchi, Makomo Makazu, Kingo Hirasawa, Makoto Sugimori, Ryosuke Kobayashi, Chiko Sato, Ryosuke Ikeda, Takehide Fukuchi, Yasuaki Ishii, Hiroaki Kaneko, Wataru Shibata, Shoji Yamanaka, Yoshiaki Inayama, Shin Maeda
Stomach cancer rarely develops in patients with familial adenomatous polyposis (FAP), and Helicobacter pylori infection may increase the risk of FAP-related gastric cancer. We describe the case of a 64-year-old woman who developed multiple synchronous early gastric cancers without H. pylori infection. Nine cancer lesions were successfully treated by endoscopic submucosal dissection. An immunohistochemical analysis revealed that the tumors were positive for MUC2, MUC6, and CDX2, but negative for MUC5AC, suggesting that the tumors were gastrointestinal mixed type...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29018163/mtdna-copy-number-associated-with-age-of-onset-in-familial-amyloid-polyneuropathy
#9
Diana Santos, Maria João Santos, Miguel Alves-Ferreira, Teresa Coelho, Jorge Sequeiros, Isabel Alonso, Pedro Oliveira, Alda Sousa, Carolina Lemos, Manuela Grazina
BACKGROUND: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP Val30Met) shows a wide variation in age-at-onset (AO) between generations and genders, as in Portuguese families, where women display a later onset and a larger anticipation (>10 years). Mitochondrial DNA (mtDNA) copy number was assessed to clarify whether it has a modifier effect on AO variability in Portuguese patients. METHODS: The mtDNA copy number of 262 samples (175 Val30Met TTR carriers and 87 controls (proven Val30Val)) was quantified by quantitative real-time PCR...
October 10, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28993312/mmp-14-overexpression-correlates-with-the-neurodegenerative-process-in-familial-amyloidotic-polyneuropathy
#10
Diana Martins, João Moreira, Nádia Pereira Gonçalves, Maria João Saraiva
Levels of matrix metalloproteases (MMPs) can be differentially regulated in response to injury or neurological diseases. For instance, it is known that selective and short-term inhibition of MMP-14, a membrane-type 1 MMP, accelerates axon regeneration. Because axon growth and regeneration is impaired in familial amyloidotic polyneuropathy (FAP), a neurodegenerative disorder characterized by misfolding and deposition of mutant transthyretin (TTR) in the peripheral nervous system (PNS), we presently investigated the expression levels and the potential role for MMP-14 in this condition...
October 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28991715/clinical-and-pathological-findings-in-familial-amyloid-polyneuropathy-caused-by-a-transthyretin-e61k-mutation
#11
Tatsufumi Murakami, Hirotake Nishimura, Taiji Nagai, Shoji Hemmi, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunada
Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. The pathogenesis of this neuropathy remains unknown, although several mechanisms, including mechanical compression, vessel occlusion, TTR toxicity and Schwann cell dysfunction have been proposed. We describe a patient with late-onset FAP caused by a TTR E61K mutation...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28989598/imaging-of-formaldehyde-in-plants-with-a-ratiometric-fluorescent-probe
#12
Zhen Li, Yuqing Xu, Hailiang Zhu, Yong Qian
The fluorescence monitoring of formaldehyde in real environmental samples and live plant tissues is of great importance for physiological and pathological studies. However, there is a lack of suitable chemical tools to directly trace and measure the formaldehyde activity in bio-systems, and developing effective and, in particular, selective sensors for mapping formaldehyde in live tissues still remains a great challenge. Here, we demonstrate for the first time that the ratiometric fluorescence monitoring of formaldehyde in live plant tissues is achieved with a newly developed ratiometric fluorescent probe, FAP, which effectively eliminated interference from other comparative analytes...
August 1, 2017: Chemical Science
https://www.readbyqxmd.com/read/28987144/cancer-associated-fibroblasts-cafs-are-activated-in-cutaneous-basal-cell-carcinoma-and-in-the-peritumoural-skin
#13
Silje Haukali Omland, Erika Elgstrand Wettergren, Tobias Mourier, Anders Johannes Hansen, Maria Asplund, Sarah Mollerup, Robert Robert
BACKGROUND: Cutaneous basal cell carcinoma (BCC) is the commonest cancer worldwide. BCC is locally invasive and the surrounding stromal microenvironment is pivotal for tumourigenesis. Cancer associated fibroblasts (CAFs) in the microenvironment are essential for tumour growth in a variety of neoplasms but their role in BCC is poorly understood. METHODS: Material included facial BCC and control skin from the peritumoural area and from the buttocks. With next-generation sequencing (NGS) we compared mRNA expression between BCC and peritumoural skin...
October 7, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28983659/cardiac-and-peripheral-vasomotor-autonomic-functions-in-late-onset-transthyretin-val30met-familial-amyloid-polyneuropathy
#14
Haruki Koike, Tomohiko Nakamura, Atsushi Hashizume, Ryoji Nishi, Shohei Ikeda, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno, Gen Sobue
The objective of this study was to systematically investigate cardiac and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy (FAP ATTR Val30Met) patients from non-endemic areas. The coefficient of variation of R-R intervals (CVR-R), responses to the Valsalva manoeuvre, head-up tilt test with impedance cardiography, noradrenaline infusion test, and (123)I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy were assessed in eight patients. Although only four patients manifested orthostatic hypotension during the head-up tilt test, CVR-R, responses to the Valsalva manoeuvre, and myocardial MIBG uptake indicated a higher prevalence of cardiac sympathetic and parasympathetic dysfunction...
October 5, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28978805/fibroblast-activation-protein-augments-progression-and-metastasis-of-pancreatic-ductal-adenocarcinoma
#15
Albert Lo, Chung-Pin Li, Elizabeth L Buza, Rachel Blomberg, Priya Govindaraju, Diana Avery, James Monslow, Michael Hsiao, Ellen Puré
Pancreatic ductal adenocarcinomas (PDAs) are desmoplastic and can undergo epithelial-to-mesenchymal transition to confer metastasis and chemoresistance. Studies have demonstrated that phenotypically and functionally distinct stromal cell populations exist in PDAs. Fibroblast activation protein-expressing (FAP-expressing) cells act to enhance PDA progression, while α-smooth muscle actin myofibroblasts can restrain PDA. Thus, identification of precise molecular targets that mediate the protumorigenic activity of FAP+ cells will guide development of therapy for PDA...
October 5, 2017: JCI Insight
https://www.readbyqxmd.com/read/28975891/local-immune-response-in-cutaneous-basal-cell-carcinoma
#16
Silje Haukali Omland
BCC is an immunogenic tumor highlighted by the increased risk in immunosuppressed individuals and the frequent occurrence of tumor infiltrating lymphocytes (TILs) in the tumor surroundings. Immunotherapy is evolving as a promising treatment strategy for several cancer types where topical immunostimulators are among the possibilities for superficial BCC. The overall aim of this thesis is to characterize the immunologic response upon BCC as well as characterizing the surrounding tumor stroma. The aim was achieved by the use of a variety of laboratory techniques; immunohistochemistry, immunoflourescence, qRT-PCR and NGS...
October 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28970566/selective-homogeneous-assay-for-circulating-endopeptidase-fibroblast-activation-protein-fap
#17
Travis W Bainbridge, Diana Ronai Dunshee, Noelyn M Kljavin, Nicholas J Skelton, Junichiro Sonoda, James A Ernst
Fibroblast Activation Protein (FAP) is a membrane-bound serine protease whose expression is often elevated in activated fibroblasts associated with tissue remodeling in various common diseases such as cancer, arthritis and fibrosis. Like the closely related dipeptidyl peptidase DPPIV, the extracellular domain of FAP can be released into circulation as a functional enzyme, and limited studies suggest that the circulating level of FAP correlates with the degree of tissue fibrosis. Here we describe a novel homogeneous fluorescence intensity assay for circulating FAP activity based on a recently identified natural substrate, FGF21...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28965817/p-body-purification-reveals-the-condensation-of-repressed-mrna-regulons
#18
Arnaud Hubstenberger, Maïté Courel, Marianne Bénard, Sylvie Souquere, Michèle Ernoult-Lange, Racha Chouaib, Zhou Yi, Jean-Baptiste Morlot, Annie Munier, Magali Fradet, Maëlle Daunesse, Edouard Bertrand, Gérard Pierron, Julien Mozziconacci, Michel Kress, Dominique Weil
Within cells, soluble RNPs can switch states to coassemble and condense into liquid or solid bodies. Although these phase transitions have been reconstituted in vitro, for endogenous bodies the diversity of the components, the specificity of the interaction networks, and the function of the coassemblies remain to be characterized. Here, by developing a fluorescence-activated particle sorting (FAPS) method to purify cytosolic processing bodies (P-bodies) from human epithelial cells, we identified hundreds of proteins and thousands of mRNAs that structure a dense network of interactions, separating P-body from non-P-body RNPs...
October 5, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28957718/accurate-quantification-of-pge2-in-the-polyposis-in-rat-colon-pirc-model-by-surrogate-analyte-based-uplc-ms-ms
#19
Changhong Yun, Wan-Mohaiza Dashwood, Lawrence N Kwong, Song Gao, Taijun Yin, Qinglan Ling, Rashim Singh, Roderick H Dashwood, Ming Hu
An accurate and reliable UPLC-MS/MS method is reported for the quantification of endogenous Prostaglandin E2 (PGE2) in rat colonic mucosa and polyps. This method adopted the "surrogate analyte plus authentic bio-matrix" approach, using two different stable isotopic labeled analogs - PGE2-d9 as the surrogate analyte and PGE2-d4 as the internal standard. A quantitative standard curve was constructed with the surrogate analyte in colonic mucosa homogenate, and the method was successfully validated with the authentic bio-matrix...
July 25, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28955048/a-novel-pathogenic-single-nucleotide-germline-deletion-in-apc-gene-in-a-four-generation-chinese-family-with-familial-adenomatous-polyposis
#20
Zhao Zhang, Shengyun Liang, Dan Wang, Shengran Liang, Yuwei Li, Bingjie Wang, Tao Jiang, Guoru Zhao, Xipeng Zhang, Santasree Banerjee
Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition which is associated with germline mutations of the APC gene. Clinically, FAP is characterized by the development of multiple colorectal adenomas or polyps which finally result in colorectal cancer by the 40 years age of the patient, if no surgical interventions have been undertaken. In this study, we present a clinical molecular study of a four generation Chinese family with FAP. Diagnosis of FAP was made on the basis of clinical manifestations, family history and medical (colonoscopy and histopathology) records...
September 27, 2017: Scientific Reports
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