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Transthyretin

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https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#1
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28093848/one-mutation-two-distinct-disease-variants-unravelling-the-impact-of-transthyretin-amyloid-fibril-composition
#2
REVIEW
O B Suhr, E Lundgren, P Westermark
Although hereditary transthyretin (h-ATTR) amyloidosis is a monogenetic disease, a large variation in its phenotype has been observed. The common hypothesis of amyloid fibril formation involves dissociation of the transthyretin (TTR) tetramer into monomers that after misfolding reassemble into amyloid fibrils. This notion is partly challenged by the finding of two distinct types of amyloid fibrils. One of these, type A, consists of C-terminal ATTR fragments and full-length TTR, whereas the other, type B, consists only of full-length TTR...
January 17, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28090046/an-isolated-case-of-late-onset-amyloidogenic-transthyretin-type-familial-amyloid-polyneuropathy-associated-with-a-mutant-transthyretin-substituting-methionine-for-valine-at-position-30-showing-latent-progressive-cardiac-involvement-confirmed-by-serial-annual
#3
Chikako Sato, Tomofumi Takaya, Shumpei Mori, Kohei Hasegawa, Fumitaka Soga, Hidekazu Tanaka, Yoshiaki Watanabe, Tatsuya Nishii, Atsushi K Kono, Yukiko Morinaga, Hatsue Ishibashi-Ueda, Ken-Ichi Hirata
Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28090011/cardiac-amyloidosis-associated-with-amyloidogenic-transthyretin-v122i-variant-in-an-elderly-japanese-woman
#4
Tsuneaki Yoshinaga, Masahide Yazaki, Masakazu Ohno, Satoshi Kodama, Jun Koyama, Yoshiki Sekijima
No abstract text is available yet for this article.
January 14, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28075349/transthyretin-a-transporter-protein-essential-for-proliferation-of-myoblast-in-the-myogenic-program
#5
Eun Ju Lee, Smritee Pokharel, Arif Tasleem Jan, Soyeon Huh, Richelle Galope, Jeong Ho Lim, Dong-Mok Lee, Sung Wook Choi, Sang-Soep Nahm, Yong-Woon Kim, So-Young Park, Inho Choi
Irregularities in the cellular uptake of thyroid hormones significantly affect muscle development and regeneration. Herein, we report indispensable role of transthyretin (TTR) in maintaining cellular thyroxine level. TTR was found to enhance recruitment of muscle satellite cells to the site of injury, thereby regulating muscle regeneration. Fluorescence-activated cell sorting (FACS) and immunofluorescence analysis of TTRwt (TTR wild type) and TTRkd (TTR knock-down) cells revealed that TTR controlled cell cycle progression by affecting the expression of Cyclin A2...
January 8, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28073034/unraveling-the-different-toxic-effect-of-flufenoxuron-on-the-thyroid-endocrine-system-of-the-mongolia-racerunner-eremias-argus-at-different-stages
#6
Jing Chang, Wei Li, Baoyuan Guo, Peng Xu, Yinghuan Wang, Jianzhong Li, Huili Wang
Flufenoxuron is a widely used pesticide to inhibit the synthesis of chitin during insect development and its effect on the growth of lizards has been little addressed. The hypothalamus-pituitary-thyroid (HPT) axis plays an important role on the development of lizards. In this study, the lizards at different development stages (proliferation and resting stages) were exposed to flufenoxuron for 21 days. The plasma thyroid hormone levels, thyroid gland histopathology and expression profiles of thyroid hormone receptors (trα, trβ), deiodinases (dio1, dio2), and transthyretin (ttr) genes were measured to evaluated the toxic effect of flufenoxuron on the HPT axis at different stages...
January 4, 2017: Chemosphere
https://www.readbyqxmd.com/read/28063299/miniaturization-of-a-transthyretin-binding-assay-using-a-fluorescent-probe-for-high-throughput-screening-of-thyroid-hormone-disruption-in-environmental-samples
#7
Xiyu Ouyang, Jean Froment, Pim E G Leonards, Guttorm Christensen, Knut-Erik Tollefsen, Jacob de Boer, Kevin V Thomas, Marja H Lamoree
Thyroid hormone (TH) disrupting compounds are potentially important environmental contaminants due to their possible adverse neurological and developmental effects on both humans and wildlife. Currently, the most successful bio-analytical method to detect and evaluate TH disruptors, which target the plasma transport of TH in environmental samples, is the radio-ligand thyroxine-transthyretin (T4-TTR) binding assay. Yet, costly materials and tedious handling procedures prevent the use of this assay in high throughput analysis that is nowadays urgently demanded in environmental quality assessment...
December 23, 2016: Chemosphere
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
#8
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/28050864/technetium-pyrophosphate-uptake-in-transthyretin-cardiac-amyloidosis-associations-with-echocardiographic-disease-severity-and-outcomes
#9
Michael N Vranian, Brett W Sperry, Mazen Hanna, Rory Hachamovitch, Asad Ikram, Richard C Brunken, Wael A Jaber
BACKGROUND: Quantitative uptake of Technetium 99 m-pyrophosphate (TcPYP) is sensitive and specific for diagnosing transthyretin cardiac amyloidosis (ATTR). We sought to examine the association between TcPYP uptake intensity and echocardiographic measures of disease severity and clinical outcomes. METHODS AND RESULTS: A retrospective analysis was performed of 75 patients who underwent TcPYP scintigraphy. Planar images were evaluated semiquantitatively and using heart-to-contralateral lung (H/CL) ratio...
January 3, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28042702/effect-of-doxycycline-and-ursodeoxycholic-acid-on-transthyretin-amyloidosis
#10
Jonas Wixner, Björn Pilebro, Hans-Erik Lundgren, Malin Olsson, Intissar Anan
No abstract text is available yet for this article.
December 31, 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28025641/itraq-based-proteomics-identification-of-serum-biomarkers-of-two-chronic-hepatitis-b-subtypes-diagnosed-by-traditional-chinese-medicine
#11
Jiankun Yang, Lichao Yang, Baixue Li, Weilong Zhou, Sen Zhong, Zhenhua Zhuang, Bin Yang, Maoshan Chen, Quansheng Feng
Background. Chronic infection with hepatitis B virus (HBV) is a leading cause of cirrhosis and hepatocellular carcinoma. By traditional Chinese medicine (TCM) pattern classification, damp heat stasis in the middle-jiao (DHSM) and liver Qi stagnation and spleen deficiency (LSSD) are two most common subtypes of CHB. Results. In this study, we employed iTRAQ proteomics technology to identify potential serum protein biomarkers in 30 LSSD-CHB and 30 DHSM-CHB patients. Of the total 842 detected proteins, 273 and 345 were differentially expressed in LSSD-CHB and DHSM-CHB patients compared to healthy controls, respectively...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27992035/speckle-tracking-and-transthyretin-amyloid-cardiomyopathy
#12
Alexandre Marins Rocha, Suzane Garcia Ferreira, Marcelo Souto Nacif, Mario Luiz Ribeiro, Marcos Raimundo Gomes de Freitas, Cláudio Tinoco Mesquita
Background: Amyloidosis is a disease caused by deposits of insoluble fibrils in extracellular spaces. The most common type of familial amyloidosis is mediated by mutation of transthyretin, especially Val30Met. Symptoms and ejection fraction decrease may occur in cardiac amyloidosis only in case of poor prognosis. Myocardial strain detected by two-dimensional speckle tracking echocardiography can indicate changes in myocardial function at early stages of the disease. Objective: To determine the accuracy of left ventricular longitudinal strain by two-dimensional speckle tracking echocardiography in patients with familial amyloidosis caused by Val30Met transthyretin mutation...
December 19, 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27971798/global-prevalence-estimates-of-transthyretin-familial-amyloid-polyneuropathy-attr-fap-a-systematic-review-and-projections
#13
H Schmidt, M Waddington-Cruz, M Botteman, J A Carter, A S Chopra, M Stewart, M Hopps, S Fallet, L Amass
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971679/temporal-trends-in-transthyretin-familial-amyloid-polyneuropathy-natural-survival-over-a-century
#14
M Inês, T Coelho, I Conceição, P Saramago Goncalves, M Carvalho, J Costa
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971665/treatment-comparative-effectiveness-in-rare-diseases-the-case-of-transthyretin-familial-amyloid-polyneuropathy-survival
#15
M Inês, T Coelho, I Conceição, P Saramago Goncalves, M Carvalho, J Costa
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27919414/early-diagnosis-in-patients-with-transthyretin-familial-amyloid-polyneuropathy-a-comparative-study
#16
Manuel Raya-Cruz, Juan Buades-Reines, Cristina Gállego-Lezáun, Tomás Ripoll-Vera, Mercedes Usón-Martín, Eugenia Cisneros-Barroso
INTRODUCTION AND OBJECTIVE: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a disease caused by the deposit of abnormal transthyretin on tissues, mainly nerves. Small nerve fibers are altered earlier during the course of the disease; hence, detection of their involvement may have serious consequences on the natural history of disease. METHODS: A cross-sectional, observational study, was carried out on symptomatic patients, involving the conduct of several tests for small nerve fibers: Vibration, Touch Pressure (TP) and Heat Pain (HP)...
January 20, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/27900617/new-and-evolving-concepts-regarding-the-prognosis-and-treatment-of-cardiac-amyloidosis
#17
REVIEW
Stefano Perlini, Roberta Mussinelli, Francesco Salinaro
Systemic amyloidoses are rare and proteiform diseases, caused by extracellular accumulation of insoluble misfolded fibrillar proteins. Prognosis is dictated by cardiac involvement, which is especially frequent in light chain (AL) and in transthyretin variants (ATTR, both mutated, (ATTRm), and wild-type, (ATTRwt)). Recently, ATTRwt has emerged as a potentially relevant cause of a heart failure with preserved ejection fraction (HFpEF). Cardiac amyloidosis is an archetypal example of restrictive cardiomyopathy, with signs and symptoms of global heart failure and diastolic dysfunction...
December 2016: Current Heart Failure Reports
https://www.readbyqxmd.com/read/27898735/cognitive-dysfunction-and-malnutrition-are-independent-predictor-of-dysphagia-in-patients-with-acute-exacerbation-of-congestive-heart-failure
#18
Junichi Yokota, Yoshiko Ogawa, Shinsuke Yamanaka, Yoshimi Takahashi, Hiroshi Fujita, Nobuhiro Yamaguchi, Noriko Onoue, Takeshi Ishizuka, Tsuyoshi Shinozaki, Masahiro Kohzuki
Early detection and intervention for dysphagia is important in patients with congestive heart failure (CHF). However, previous studies have focused on how many patients with dysphagia develop CHF. Studies focusing on the comorbidity of dysphagia in patients with CHF are rare. Additionally, risk factors for dysphagia in patients with CHF are unclear. Thus, the aim of this study was to clarify risk factors for dysphagia in patients with acute exacerbation of CHF. A total of 105 patients, who were admitted with acute exacerbation of CHF, were enrolled...
2016: PloS One
https://www.readbyqxmd.com/read/27897204/human-mitochondrial-transcriptional-factor-a-breaks-the-mitochondria-mediated-vicious-cycle-in-alzheimer-s-disease
#19
Sugako Oka, Julio Leon, Kunihiko Sakumi, Tomomi Ide, Dongchon Kang, Frank M LaFerla, Yusaku Nakabeppu
In the mitochondria-mediated vicious cycle of Alzheimer's disease (AD), intracellular amyloid β (Aβ) induces mitochondrial dysfunction and reactive oxygen species, which further accelerate Aβ accumulation. This vicious cycle is thought to play a pivotal role in the development of AD, although the molecular mechanism remains unclear. Here, we examined the effects of human mitochondrial transcriptional factor A (hTFAM) on the pathology of a mouse model of AD (3xTg-AD), because TFAM is known to protect mitochondria from oxidative stress through maintenance of mitochondrial DNA (mtDNA)...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27894337/intestinal-dysbiosis-is-common-in-systemic-sclerosis-and-associated-with-gastrointestinal-and-extraintestinal-features-of-disease
#20
Kristofer Andréasson, Zaid Alrawi, Anita Persson, Göran Jönsson, Jan Marsal
BACKGROUND: Recent evidence suggests a link between autoimmunity and the intestinal microbial composition in several rheumatic diseases including systemic sclerosis (SSc). The objective of this study was to investigate the prevalence of intestinal dysbiosis in SSc and to characterise patients suffering from this potentially immunomodulatory deviation. METHODS: This study consisted of 98 consecutive patients subject to in-hospital care. Stool samples were analysed for intestinal microbiota composition using a validated genome-based microbiota test (GA-map™ Dysbiosis Test, Genetic Analysis, Oslo, Norway)...
November 29, 2016: Arthritis Research & Therapy
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