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Transthyretin

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https://www.readbyqxmd.com/read/27919414/early-diagnosis-in-patients-with-transthyretin-familial-amyloid-polyneuropathy-a-comparative-study
#1
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)...
December 2, 2016: Medicina Clínica
https://www.readbyqxmd.com/read/27900617/new-and-evolving-concepts-regarding-the-prognosis-and-treatment-of-cardiac-amyloidosis
#2
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...
November 29, 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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/27885756/structure-of-monomeric-transthyretin-carrying-the-clinically-important-t119m-mutation
#6
Jin Hae Kim, Javier Oroz, Markus Zweckstetter
Mutations in the protein transthyretin can cause as well as protect individuals from transthyretin amyloidosis, an incurable fatal inherited disease. Little is known, however, about the structural basis of pathogenic and clinically protective transthyretin mutants. Here we determined the solution structure of a transthyretin monomer that carries the clinically important T119M mutation. The structure displays a non-native arrangement that is distinct from all known structures of transthyretin and highlights the importance of high-resolution studies in solution for understanding molecular processes that lead to amyloid diseases...
November 25, 2016: Angewandte Chemie
https://www.readbyqxmd.com/read/27884058/efficiency-of-silencing-rna-for-removal-of-transthyretin-v30m-in-a-ttr-leptomeningeal-animal-model
#7
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...
December 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27882404/reduced-trans-mitral-a-wave-velocity-predicts-the-presence-of-wild-type-transthyretin-amyloidosis-in-elderly-patients-with-left-ventricular-hypertrophy
#8
Satoru Yamamura, Yasuhiro Izumiya, Toshifumi Ishida, Yoshiro Onoue, Yuichi Kimura, Shinsuke Hanatani, Satoshi Araki, Koichiro Fujisue, Daisuke Sueta, Hisanori Kanazawa, Seiji Takashio, Hiroki Usuku, Koichi Sugamura, Kenji Sakamoto, Eiichiro Yamamoto, Megumi Yamamuro, Hisayo Yasuda, Sunao Kojima, Koichi Kaikita, Seiji Hokimoto, Hisao Ogawa, Kenichi Tsujita
Wild-type transthyretin amyloidosis (ATTRwt) is often overlooked in elderly patients with left ventricular hypertrophy (LVH). Impaired atrial function, in addition to ventricular diastolic dysfunction, is one of the hallmarks of cardiac amyloidosis. Here, we assessed the hypothesis that atrial function evaluated by A-velocity in pulse Doppler echocardiography is useful to differentiate ATTRwt in elderly patients with LVH. We analyzed 133 consecutive patients who underwent tissue biopsy to rule out infiltrative cardiomyopathy in our institute...
November 23, 2016: Heart and Vessels
https://www.readbyqxmd.com/read/27879420/saliva-and-serum-protein-exchange-at-the-tooth-enamel-surface
#9
D Heller, E J Helmerhorst, F G Oppenheim
The acquired enamel pellicle is an oral, fluid-derived protein layer that forms on the tooth surface. It is a biologically and clinically important integument that protects teeth against enamel demineralization, and abrasion. Tooth surfaces are exposed to different proteinaceous microenvironments depending on the enamel location. For instance, tooth surfaces close to the gingival sulcus contact serum proteins that emanate via this sulcus, which may impact pellicle composition locally. The aims of this study were to define the major salivary and serum components that adsorb to hydroxyapatite, to study competition among them, and to obtain preliminary evidence in an in vivo saliva/serum pellicle model...
November 22, 2016: Journal of Dental Research
https://www.readbyqxmd.com/read/27878441/long-term-treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-clinical-and-neurophysiological-study
#10
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/27875279/biochemical-markers-of-nutrition-support-in-critically-ill-trauma-victims
#11
Brodie Parent, Max Seaton, Grant E O'Keefe
BACKGROUND: In critically ill patients, plasma serum albumin and transthyretin concentrations are thought to reflect the effects of acute illness, including resuscitation and inflammation. Their use as markers for preexisting nutrition status is, therefore, not recommended. Whether they can be used to assess subsequent effectiveness of artificial nutrition support is unclear. We sought to determine if these biomarkers are associated with enteral caloric intake in critically ill trauma patients...
October 3, 2016: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/27873215/current-and-future-treatment-approaches-in-transthyretin-familial-amyloid-polyneuropathy
#12
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
#13
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/27869126/caenorhabditis-elegans-as-a-model-system-to-study-post-translational-modifications-of-human-transthyretin
#14
Andrea Henze, Thomas Homann, Isabelle Rohn, Michael Aschner, Christopher D Link, Burkhard Kleuser, Florian J Schweigert, Tanja Schwerdtle, Julia Bornhorst
The visceral protein transthyretin (TTR) is frequently affected by oxidative post-translational protein modifications (PTPMs) in various diseases. Thus, better insight into structure-function relationships due to oxidative PTPMs of TTR should contribute to the understanding of pathophysiologic mechanisms. While the in vivo analysis of TTR in mammalian models is complex, time- and resource-consuming, transgenic Caenorhabditis elegans expressing hTTR provide an optimal model for the in vivo identification and characterization of drug-mediated oxidative PTPMs of hTTR by means of matrix assisted laser desorption/ionization - time of flight - mass spectrometry (MALDI-TOF-MS)...
November 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27867938/a-mutation-in-npas3-that-segregates-with-schizophrenia-in-a-small-family-leads-to-protein-aggregation
#15
Leslie G Nucifora, YeeWen Candace Wu, Brian J Lee, Li Sha, Russell L Margolis, Christopher A Ross, Akira Sawa, Frederick C Nucifora
Schizophrenia and other major mental illnesses result from a complex interplay of genetic and environmental factors. We previously identified a mutation in NPAS3 that results in a valine to isoleucine (V304I) amino acid substitution segregating with schizophrenia in a small family. The amino acid change occurs in a potentially critical region for protein function. Furthermore, the same amino acid substitution in proteins related to familial Alzheimer's disease and transthyretin amyloidosis has been associated with protein aggregation...
October 2016: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#16
REVIEW
T Stojkovic
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability...
December 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27865997/homogentisic-acid-induces-aggregation-and-fibrillation-of-amyloidogenic-proteins
#17
Daniela Braconi, Lia Millucci, Andrea Bernini, Ottavia Spiga, Pietro Lupetti, Barbara Marzocchi, Neri Niccolai, Giulia Bernardini, Annalisa Santucci
BACKGROUND: Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism characterized by homogentisic acid (HGA) accumulation due to a deficient activity of the homogentisate 1.2-dioxygenase (HGD) enzyme. This leads to the production of dark pigments that are deposited onto connective tissues, a condition named 'ochronosis' and whose mechanisms are not completely clear. Recently, the potential role of hitherto unidentified proteins in the ochronotic process was hypothesized, and the presence of Serum Amyloid A (SAA) in alkaptonuric tissues was reported, allowing the classification of AKU as a novel secondary amyloidosis...
November 16, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27863112/label-free-quantitative-comparison-of-cerebrospinal-fluid-glycoproteins-and-endogenous-peptides-in-subjects-with-alzheimer-s-disease-mild-cognitive-impairment-and-healthy-individuals
#18
Jingxin Wang, Robert Cunningham, Henrik Zetterberg, Sanjay Asthana, Cynthia Carlsson, Ozioma Okonkwo, Lingjun Li
PURPOSE: The goal of this study is to investigate putative molecular dynamic changes in cerebrospinal fluids (CSFs) collected from individuals with mild cognitive impairment (MCI) and Alzheimer's disease (AD) as compared to healthy controls. EXPERIMENTAL DESIGN: The CSF samples from 12 subjects comprised of four cognitively normal individuals and eight patients with MCI and AD, respectively. Two aliquots of each CSF samples (total 1 mL) of each participant were used for this study...
November 9, 2016: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/27859927/clinical-features-of-familial-amyloid-polyneuropathy-carrying-transthyretin-mutations-in-four-chinese-kindreds
#19
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/27852403/-effects-of-transthyretin-on-biological-behavior-of-retinal-pigment-epithelial-cells-and-retinal-microvascular-epithelial-cells
#20
M Zhuang, J Shao, C Y Tan, Y Yao
Objective: To explore the effects of transthyretin (TTR) on biological behavior of retinal pigment epithelial cells (RPECs) and retinal microvascular epithelial cells (RMVECs). Methods: RPECs were cultured with exogenous TTR to explore the effect of TTR on the proliferation of RPECs. The expression of TTR of RPECs was silenced by TTR specific small interfering RNA and the expression of TTR was detected by using Western blotting to identify the efficacy of TTR silence. The level of vascular endothelial growth factor (VEGF) massage RNA was detected by using RT-PCR to identify the interaction between VEGF and TTR...
November 11, 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
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