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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/29048471/a-new-staging-system-for-cardiac-transthyretin-amyloidosis
#3
Julian D Gillmore, Thibaud Damy, Marianna Fontana, Matthew Hutchinson, Helen J Lachmann, Ana Martinez-Naharro, Candida C Quarta, Tamer Rezk, Carol J Whelan, Esther Gonzalez-Lopez, Thirusha Lane, Janet A Gilbertson, Dorota Rowczenio, Aviva Petrie, Philip N Hawkins
Aims: Cardiac transthyretin (ATTR) amyloidosis is an increasingly recognized, progressive, and fatal cardiomyopathy, the natural history of which remains unclear. We sought to establish and validate a new prognostic staging system applicable to patients with both wild-type ATTR (ATTRwt) and hereditary variant ATTR (ATTRv) amyloid cardiomyopathy. Methods and results: Eight hundred and sixty-nine patients with cardiac ATTR amyloidosis (553 with ATTRwt and 316 with ATTRv) attending the UK National Amyloidosis Centre were stratified into three disease stages at baseline on the basis of cut points in two universally measured biomarkers, N-terminal pro-B-type natriuretic peptide (NT-proBNP) and estimated glomerular filtration rate (eGFR)...
October 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29040977/gene-microarray-integrated-with-high-throughput-proteomics-for-the-discovery-of-transthyretin-in-rhabdomyolysis-induced-acute-kidney-injury
#4
Ou Li, Xiaodong Geng, Qian Ma, Weiwei Wang, Ran Liu, Zhong Yin, Siyang Wang, Guangyan Cai, Xiangmei Chen, Quan Hong
BACKGROUND/AIMS: Rhabdomyolysis, one of the leading causes of acute kidney injury (AKI), develops after trauma, drug toxicity, infections, burns, and physical exertion. The aim of this study was to investigate differences in gene and protein expression to elucidate the pathogenesis of rhabdomyolysis (RM)-induced AKI. METHODS: In this study, we used glycerol induced renal injury as a model of RM-induced AKI. Affymetrix U133 plus 2.0 microarrays were used to perform gene microarray analysis...
October 18, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29019809/atrial-fibrillation-and-central-nervous-complications-in-liver-transplanted-hereditary-transthyretin-amyloidosis-patients
#5
Niklas Wange, Intissar Anan, Bo-Göran Ericzon, Johanna Pennlert, Björn Pilebro, Ole B Suhr, Jonas Wixner
BACKGROUND: Central nervous system (CNS) complications are increasingly noted in liver transplanted (LTx) hereditary transthyretin amyloid (ATTRm) amyloidosis patients; this suggests that the increased survival allows for intracranial ATTRm formation from brain synthesised mutant TTR. However, atrial fibrillation (AF), a recognised risk factor for ischemic CNS complications, is also observed after LTx. The aim of the study was to investigate the occurrence of CNS complications and AF in LTx ATTRm amyloidosis patients...
October 11, 2017: Transplantation
https://www.readbyqxmd.com/read/29019616/dangerous-relationships-aortic-stenosis-and-transthyretin-cardiac-amyloidosis
#6
Paola Gargiulo, Pasquale Perrone-Filardi
No abstract text is available yet for this article.
October 7, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29019612/unveiling-transthyretin-cardiac-amyloidosis-and-its-predictors-among-elderly-patients-with-severe-aortic-stenosis-undergoing-transcatheter-aortic-valve-replacement
#7
Adam Castaño, David L Narotsky, Nadira Hamid, Omar K Khalique, Rachelle Morgenstern, Albert DeLuca, Jonah Rubin, Codruta Chiuzan, Tamim Nazif, Torsten Vahl, Isaac George, Susheel Kodali, Martin B Leon, Rebecca Hahn, Sabahat Bokhari, Mathew S Maurer
Aims: Transthyretin cardiac amyloidosis (ATTR-CA) has been reported in patients with aortic stenosis (AS) but its prevalence and phenotype are not known. We examine elderly patients with severe symptomatic AS undergoing transcatheter aortic valve replacement (TAVR) and determine the prevalence and phenotype of ATTR-CA non-invasively. Methods and results: We performed technetium-99m pyrophosphate (99mTc-PYP) cardiac scintigraphy prospectively on patients who underwent TAVR, to screen for ATTR-CA...
October 7, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29018163/mtdna-copy-number-associated-with-age-of-onset-in-familial-amyloid-polyneuropathy
#8
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/29016528/transthyretin-v30m-familial-amyloidosis-presenting-as-isolated-retinal-angiopathy
#9
Judy J Chen, Ananda Kalevar, Robin A Vora, Ying Qian, Peter H Gorenberg, Richard Garcia-Kennedy, Emmett T Cunningham
PURPOSE: To describe a patient with confirmed transthyretin V30M form of familial amyloidosis who presented initially with isolated retinal angiopathy. METHODS: Retrospective chart review. RESULTS: A 66-year-old woman presented with bilateral retinal angiopathy. Extensive workup for an infectious, inflammatory, or hypercoagulable cause was unrevealing. The patient subsequently developed bilateral neovascularization of the optic nerve and iris complicated by recurrent vitreous hemorrhages, which were treated with intravitreal bevacizumab and panretinal photocoagulation...
October 9, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29016222/misidentification-of-transthyretin-and-immunoglobulin-variants-by-proteomics-due-to-methyl-lysine-formation-in-formalin-fixed-paraffin-embedded-amyloid-tissue
#10
Diana Canetti, Nigel Brian Rendell, Lucia Di Vagno, Janet A Gilbertson, Dorota Rowczenio, Tamar Rezk, Julian D Gillmore, Phillip N Hawkins, Guglielmo Verona, Palma Patrizia Mangione, Sofia Giorgetti, Pierluigi Mauri, Sara Motta, Antonella De Palma, Vittorio Bellotti, Graham W Taylor
Proteomics is becoming the de facto gold standard for identifying amyloid proteins and is now used routinely in a number of centres. The technique is compound class independent and offers the added ability to identify variant and modified proteins. We re-examined proteomics results from a number of formalin-fixed paraffin-embedded amyloid samples, which were positive for transthyretin (TTR) by immunohistochemistry and proteomics, using the UniProt human protein database modified to include TTR variants. The amyloidogenic variant, V122I TTR, was incorrectly identified in 26/27 wild-type and non-V122I variant samples due to its close mass spectral similarity with the methyl lysine-modified WT peptide [126KMe]105-127 (p...
October 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28993312/mmp-14-overexpression-correlates-with-the-neurodegenerative-process-in-familial-amyloidotic-polyneuropathy
#11
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
#12
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/28985740/nanoscale-click-reactive-scaffolds-from-peptide-self-assembly
#13
Alexander P M Guttenplan, Laurence J Young, Dijana Matak-Vinkovic, Clemens F Kaminski, Tuomas P J Knowles, Laura S Itzhaki
BACKGROUND: Due to their natural tendency to self-assemble, proteins and peptides are important components for organic nanotechnology. One particular class of peptides of recent interest is those that form amyloid fibrils, as this self-assembly results in extremely strong, stable quasi-one-dimensional structures which can be used to organise a wide range of cargo species including proteins and oligonucleotides. However, assembly of peptides already conjugated to proteins is limited to cargo species that do not interfere sterically with the assembly process or misfold under the harsh conditions often used for assembly...
October 6, 2017: Journal of Nanobiotechnology
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/28979560/a-case-study-of-likely-wild-type-cardiac-transthyretin-amyloidosis-causing-rapid-deterioration
#15
Thomas Davies, Aarash Saleh, Gerry Coghlan, Carol Whelan, Banwari Agarwal
We present the case of an 88-year-old gentleman who presented to hospital septic with bilateral leg cellulitis, pulmonary oedema and hypotension. He had no history of heart disease but had had bilateral carpal tunnel releases. His condition deteriorated with refractory hypotension in spite of fluid filling, inotropic and vasopressor support. His echocardiogram showed an infiltrative cardiomyopathy with a speckled myocardium, severe concentric left and right ventricular increased wall thickness, diastolic dysfunction, biatrial dilatation and restrictive physiology in keeping with cardiac amyloidosis...
May 2017: J Intensive Care Soc
https://www.readbyqxmd.com/read/28978215/hereditary-attr-amyloidosis-burden-of-illness-and-diagnostic-challenges
#16
Morie A Gertz
Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive disease characterized by deposition of amyloid fibrils in various organs and tissues of the body. There are a wide variety of clinical presentations for this multisystemic disorder, so it is often misdiagnosed or subject to delayed diagnosis. Although the exact prevalence is difficult to determine, existing estimates suggest a worldwide prevalence of 50,000 individuals, with varying phenotypic presentations of disease. Due to the heterogeneous nature of its presentation, incorrect or delayed diagnosis can severely impact quality of life for these patients...
June 2017: American Journal of Managed Care
https://www.readbyqxmd.com/read/28960480/evidence-that-glial-cells-attenuate-g47r-transthyretin-accumulation-in-the-central-nervous-system
#17
Hisae Sumi-Akamaru, Masaki Eto, Amane Yamauchi, Takuya Uehara, Keita Kakuda, Konen Obayashi, Shinsuke Kato, Takashi Naka, Hideki Mochizuki
Amyloidogenic protein forms amyloid aggregations at membranes leading to dysfunction of amyloid clearance and amyloidosis. Glial cells function in the clearance and degradation of amyloid β (Aβ) in the brain. This study aimed to clarify the reason why amyloid transthyretin (ATTR) rarely accumulates in the CNS. We pathologically analyzed the relationship between amyloid deposition with basement membranes or glial cells in a rare case of ATTR leptomeningeal amyloidosis. In addition, we compared the cytotoxicity of ATTR G47R, the amyloidosis-causing mutation in the case studied (n = 1), and Aβ in brains from patients with cerebral amyloid angiopathy (n = 6)...
September 28, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28957343/a-prospective-observational-study-of-patients-with-uncommon-distal-symmetric-painful-small-fiber-neuropathy
#18
Jung-Lung Hsu, Ming-Feng Liao, Hui-Ching Hsu, Yi-Ching Weng, Ai-Lun Lo, Kuo-Hsuan Chang, Hong-Shiu Chang, Hung-Chou Kuo, Chin-Chang Huang, Long-Sun Ro
OBJECTIVE: To investigate the clinical characteristics of patients with uncommon distal symmetric painful small-fiber neuropathy (DSPSFN). METHODS: From September 2012 to September 2014, participants between 18-70 years of age that had DSPSFN defined by clinical signs/symptoms and ID pain > 2 or DN4 > 4 on questionnaires for more than 1 month were included. Participants who had previous historical or laboratory evidence of common etiologies of DSPSFN were excluded...
2017: PloS One
https://www.readbyqxmd.com/read/28956153/predictors-of-survival-stratification-in-patients-with-wild-type-cardiac-amyloidosis
#19
F Aus dem Siepen, R Bauer, A Voss, S Hein, M Aurich, J Riffel, D Mereles, C Röcken, S J Buss, H A Katus, Arnt V Kristen
OBJECTIVES: To analyze clinical predictors of mortality in wild-type transthyretin amyloidosis (wt-ATTR). METHODS: In total, 191 patients (73.8 ± 0.5 years; 176 males, 15 females) with histologically proven wt-ATTR amyloidosis and genetic exclusion of a transthyretin gene variant were included. Comprehensive clinical characteristics, ECG, biomarkers, and echocardiography were analyzed retrospectively. Strain analyses were performed offline using TomTec Imaging Systems, Germany...
September 27, 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/28955941/genetic-background-modifies-amyloidosis-in-a-mouse-model-of-attr-neuropathy
#20
E Panayiotou, R Papacharalambous, A Antoniou, G Christophides, L Papageorgiou, E Fella, S Malas, T Kyriakides
Penetrance and age of onset of ATTRV30M amyloidotic neuropathy varies significantly among different populations. This variability has been attributed to both genetic and environmental modifiers. We studied the effect of genetic background on phenotype in two lines of transgenic mice bearing the same ATTRV30M transgene. Amyloid deposition, transthyretin (TTR), megalin, clusterin and disease markers of endoplasmic reticulum stress, the ubiquitin-proteasome system, apoptosis, and complement activation were assessed with WB and immunohistochemistry in donor and recipient tissue...
December 2016: Biochemistry and Biophysics Reports
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