keyword
MENU ▼
Read by QxMD icon Read
search

TTR

keyword
https://www.readbyqxmd.com/read/28646538/a-novel-attr-l32v-mutation-causes-familial-amyloid-polyneuropathy-in-a-bolivian-family
#1
P L Martínez-Ulloa, M Vallejo, I Corral, N García-Barragán, A Alcazar, Emma Martínez-Alonso, J Martínez-Poles, H Pian, A Jiménez-Escrig
We report a new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val, in a kindred of Bolivian origin with a rapid progressive peripheral neuropathy and cardiomyopathy. Three individuals from a kindred with peripheral nerve and cardiac amyloidosis were examined. Analysis of the TTR gene was performed by Sanger direct sequencing. Neuropathologic examination was obtained on the index patient with mass spectrometry study of the ATTR deposition. Direct DNA sequence analysis of exons 2, 3 and 4 of the TTR gene demonstrated a c...
June 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28639436/a-high-hasbled-score-identifies-poor-warfarin-control-in-patients-treated-for-non-valvular-atrial-fibrillation-in-australia-and-singapore
#2
Nijole Bernaitis, Ching Chi Keong, Chen Liping, Hon Jin Shing, Teo Siew Chong, Tony Badrick, Andrew K Davey, Shailendra Anoopkumar-Dukie
Warfarin reduces stroke risk in atrial fibrillation (AF) patients. The quality of warfarin control, measured by time in therapeutic range (TTR), impacts outcomes and adverse events. One tool evaluating risk of adverse events and potential warfarin control would simplify risk-benefit assessment of warfarin. Recently, HASBLED was demonstrated effective for this purpose but this was in well-controlled patients with deep vein thrombosis. HASBLED as a predictor of warfarin control has not been validated in other populations including differing indications, warfarin control levels and ethnicities...
June 21, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28636639/predictive-value-of-serum-transthyretin-for-outcome-in-acute-ischemic-stroke
#3
Wojciech Ambrosius, Slawomir Michalak, Radosław Kazmierski, Natalia Andrzejewska, Wojciech Kozubski
INTRODUCTION: The impact of choroid plexus with its blood-cerebrospinal fluid barrier in the ischemic stroke pathology is poorly explored. Transthyretin (TTR) is a protein synthesized in liver and just in choroid plexus. OBJECTIVES: The current study was designed to assess the prognostic value of serum TTR for functional outcome (at the time of hospital discharge) and long-term (one-year) overall mortality in ischemic stroke patients. PATIENTS AND METHODS: We conducted a prospective observational study...
2017: PloS One
https://www.readbyqxmd.com/read/28635949/non-coding-variants-contribute-to-the-clinical-heterogeneity-of-ttr-amyloidosis
#4
Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28634083/effects-of-the-soya-isoflavone-genistein-in-early-life-stages-of-the-senegalese-sole-solea-senegalensis-thyroid-estrogenic-and-metabolic-biomarkers
#5
Carmen Sarasquete, Maria Úbeda-Manzanaro, Juan Bosco Ortiz-Delgado
This study examines the effects induced by environmentally relevant concentrations of the isoflavone genistein (3 mg/L and 10 mg/L) during early life stages of the Senegalese sole. Throughout the hypothalamus-pituitary-thyroid (HPT) axis, several neurohormonal regulatory thyroid signalling patterns (thyroglobulin/Tg, thyroid peroxidase/TPO, transthyretin/TTR, thyroid receptors/TRβ, and iodothrynonine deiodinases, Dio2 and Dio3) were analysed. Furthermore, the expression patterns of estrogen receptor ERβ and haemoprotein Cyp1a were also evaluated...
June 17, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28625364/semi-quantitative-models-for-identifying-potent-and-selective-transthyretin-amyloidogenesis-inhibitors
#6
Stephen Connelly, David E Mortenson, Sungwook Choi, Ian A Wilson, Evan T Powers, Jeffery W Kelly, Steven M Johnson
Rate-limiting dissociation of the tetrameric protein transthyretin (TTR), followed by monomer misfolding and misassembly, appears to cause degenerative diseases in humans known as the transthyretin amyloidoses, based on human genetic, biochemical and pharmacologic evidence. Small molecules that bind to the generally unoccupied thyroxine binding pockets in the native TTR tetramer kinetically stabilize the tetramer, slowing subunit dissociation proportional to the extent that the molecules stabilize the native state over the dissociative transition state-thereby inhibiting amyloidogenesis...
May 26, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28623296/iodine-125-brachytherapy-prophylaxis-after-radiofrequency-ablation-cannot-benefit-patients-in-high-risk-of-locoregional-hepatocellular-carcinoma-recurrence
#7
Jian-Fei Tu, Ya-Hui Ding, Li Chen, Xi-Hui Ying, Deng-Ke Zhang, Fa-Zong Wu, Zhong-Wei Zhao, Jian-Song Ji, Wang-Gang Zhang, Hai Zou
This study evaluated if iodine-125 brachytherapy prophylaxis after radiofrequency ablation (RFA) prolongs time to recurrence (TTR) and overall survival (OS) of patients in high risk of locoregional hepatocellular carcinoma (HCC) recurrence. 116 patients with total tumor necrosis after RFA were divided into iodine-125 brachytherapy prophylaxis treatment group and control group. The primary endpoint was TTR, and secondary endpoints were OS and treatment-related adverse events. There were no significant differences among the baseline characteristics of two subgroups patients...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28622647/endocrine-disrupting-activity-of-per-and-polyfluoroalkyl-substances-exploring-combined-approaches-of-ligand-and-structure-based-modeling
#8
Supratik Kar, Maria S Sepúlveda, Kunal Roy, Jerzy Leszczynski
Exposure to perfluorinated and polyfluoroalkyl substances (PFCs/PFASs), endocrine disrupting halogenated pollutants, has been linked to various diseases including thyroid toxicity in human populations across the globe. PFASs can compete with thyroxine (T4) for binding to the human thyroid hormone transport protein transthyretin (TTR) which may lead to reduce thyroid hormone levels leading to endocrine disrupting adverse effects. Environmental fate and endocrine-disrupting activity of PFASs has initiated several research projects, but the amount of experimental data available for these pollutants is limited...
June 9, 2017: Chemosphere
https://www.readbyqxmd.com/read/28611283/prognostic-value-of-systemic-inflammation-score-in-patients-with-hepatocellular-carcinoma-after-hepatectomy
#9
Shiming Shi, Qing Chen, Luxi Ye, Dan Yin, Xuedong Li, Zhi Dai, Jian He
Inflammation plays an important role in cancer progression. In this study, we aimed to investigate the prognostic value of the systemic inflammatory biomarkers in hepatocellular carcinoma (HCC) patients undergoing curative resection. Data from 271 HCC patients who underwent curative resection in Zhongshan Hospital between 2008 and 2011 were included. Kaplan-Meier survival analysis showed that gamma-glutamyltransferase (GGT) and lymphocyte-to-monocyte ratio (LMR) were significantly associated with overall survival(OS) and time to recurrence(TTR)...
May 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28611125/design-and-rationale-of-the-phase-3-attr-act-clinical-trial-tafamidis-in-transthyretin-cardiomyopathy-clinical-trial
#10
Mathew S Maurer, Perry Elliott, Giampaolo Merlini, Sanjiv J Shah, Márcia Waddington Cruz, Alison Flynn, Balarama Gundapaneni, Carolyn Hahn, Steven Riley, Jeffrey Schwartz, Marla B Sultan, Claudio Rapezzi
Transthyretin amyloidosis is a rare, life-threatening disease resulting from aggregation and deposition of transthyretin amyloid fibrils in various tissues. There are 2 predominate phenotypic presentations of the disease: transthyretin familial amyloid polyneuropathy, which primarily affects the peripheral nerves, and transthyretin cardiomyopathy (TTR-CM), which primarily affects the heart. However, there is a wide overlap with symptoms at presentation and disease course being highly variable and influenced by the underlying transthyretin mutation, age of the affected individual, sex, and geographic location...
June 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28608943/transcriptomic-and-histopathological-analysis-of-cholangiolocellular-differentiation-trait-in-intrahepatic-cholangiocarcinoma
#11
Hyungjin Rhee, Jung Eun Ko, Taek Chung, Byul A Jee, So Mee Kwon, Ji Hae Nahm, Jae Yeon Seok, Jeong Eun Yoo, Jin-Sub Choi, Snorri S Thorgeirsson, Jesper B Andersen, Hye Sun Lee, Hyun Goo Woo, Young Nyun Park
BACKGROUND & AIMS: Intrahepatic cholangiocarcinoma (iCCA) is a heterogeneous entity with diverse etiologies, morphologies, and clinical outcomes. Recently, histopathological distinction of cholangiolocellular differentiation (CD) of iCCA has been suggested. However, its genome-wide molecular features and clinical significance remain unclear. METHODS: Based on CD status, we stratified iCCAs into iCCA with CD (n=20) and iCCA without CD (n=102), and performed an integrative analysis using transcriptomic and clinicopathological profiles...
June 13, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28600210/accelerated-versus-standard-epirubicin-followed-by-cyclophosphamide-methotrexate-and-fluorouracil-or-capecitabine-as-adjuvant-therapy-for-breast-cancer-in-the-randomised-uk-tact2-trial-cruk-05-19-a-multicentre-phase-3-open-label-randomised-controlled-trial
#12
David Cameron, James P Morden, Peter Canney, Galina Velikova, Robert Coleman, John Bartlett, Rajiv Agrawal, Jane Banerji, Gianfilippo Bertelli, David Bloomfield, A Murray Brunt, Helena Earl, Paul Ellis, Claire Gaunt, Alexa Gillman, Nicholas Hearfield, Robert Laing, Nicholas Murray, Niki Couper, Robert C Stein, Mark Verrill, Andrew Wardley, Peter Barrett-Lee, Judith M Bliss
BACKGROUND: Adjuvant chemotherapy for early breast cancer has improved outcomes but causes toxicity. The UK TACT2 trial used a 2×2 factorial design to test two hypotheses: whether use of accelerated epirubicin would improve time to tumour recurrence (TTR); and whether use of oral capecitabine instead of cyclophosphamide would be non-inferior in terms of patients' outcomes and would improve toxicity, quality of life, or both. METHODS: In this multicentre, phase 3, randomised, controlled trial, we enrolled patients aged 18 years or older from 129 UK centres who had histologically confirmed node-positive or high-risk node-negative operable breast cancer, had undergone complete excision, and were due to receive adjuvant chemotherapy...
June 6, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28598015/cutaneous-nerve-biomarkers-in-transthyretin-familial-amyloid-polyneuropathy
#13
Gigi J Ebenezer, Ying Liu, Daniel P Judge, Kelly Cunningham, Shaun Truelove, Noel D Carter, Blessan Sebastian, Kelly Byrnes, Michael Polydefkis
OBJECTIVE: To determine the utility of skin biopsies as a biomarker of disease severity in subjects with amyloid neuropathy. METHODS: Five groups of patients were studied: (1) transthyretin (TTR) familial amyloidotic polyneuropathy (FAP; n = 20), (2) TTR mutation carriers without peripheral neuropathy (TTR-noPN; n = 10), (3) healthy controls (n = 20), (4) diabetic neuropathy disease controls (n = 20), and (5) patients with light-chain (AL) amyloid (n = 2)...
June 9, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28587606/quality-of-anticoagulation-management-with-warfarin-among-outpatients-in-a-tertiary-hospital-in-addis-ababa-ethiopia-a-retrospective-cross-sectional-study
#14
Teferi Gedif Fenta, Tamrat Assefa, Bekele Alemayehu
BACKGROUND: Warfarin is the most widely used anticoagulant in the world. The difficulty of managing warfarin contributes to great potential for patient harm, both from excessive anticoagulation and insufficient anticoagulation. This study assessed the International Normalized Ratio (INR) control outcome measures and warfarin dose adjustment practices at cardiology and hematology outpatient clinics at a teaching hospital in Addis Ababa, Ethiopia. METHODS: The study was based on a cross - sectional study design involving 360 retrospective patients' chart review among outpatients who received warfarin for its various indications...
June 6, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28587455/insights-on-the-interaction-between-transthyretin-and-a%C3%AE-in-solution-a-saturation-transfer-difference-std-nmr-analysis-of-the-role-of-iododiflunisal
#15
Ana Gimeno, Luis M Santos, Mobina Alemi, Josep Rivas, Daniel Blasi, Ellen Y Cotrina, Jordi Llop, Gregorio Valencia, Isabel Cardoso, Jordi Quintana, Gemma Arsequell, Jesús Jiménez-Barbero
Several strategies against Alzheimer disease (AD) are directed to target Aβ-peptides. The ability of transthyretin (TTR) to bind Aβ-peptides and the positive effect exerted by some TTR stabilizers for modulating the TTR-Aβ interaction have been previously studied. Herein, key structural features of the interaction between TTR and the Aβ(12-28) peptide (3), the essential recognition element of Aβ, have been unravelled by STD-NMR spectroscopy methods in solution. Molecular aspects related to the role of the TTR stabilizer iododiflunisal (IDIF, 5) on the TTR-Aβ complex have been also examined...
June 16, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28583160/differential-expression-of-cathepsin-e-in-transthyretin-amyloidosis-from-neuropathology-to-the-immune-system
#16
Nádia Pereira Gonçalves, João Moreira, Diana Martins, Paulo Vieira, Laura Obici, Giampaolo Merlini, Margarida Saraiva, Maria João Saraiva
BACKGROUND: Increasing evidence supports a key role for inflammation in the neurodegenerative process of familial amyloidotic polyneuropathy (FAP). While there seems to be an overactivation of the neuronal interleukin-1 signaling pathway, the immune response is apparently compromised in FAP. Accordingly, little immune cell infiltration is observed around pre-fibrillar or fibrillar amyloid deposits, with the underlying mechanism for this phenomenon remaining poorly understood. Cathepsin E (CtsE) is an important intermediate for antigen presentation and chemotaxis, but its role in the pathogenesis of FAP disease remains unknown...
June 6, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28570818/chirality-dependent-potency-enhancement-and-structural-impact-of-glycol-nucleic-acid-modification-on-sirna
#17
Mark K Schlegel, Donald J Foster, Alexander V Kel'in, Ivan Zlatev, Anna Bisbe, Muthusamy Jayaraman, Jeremy G Lackey, Kallanthottathil G Rajeev, Klaus Charissé, Joel Harp, Pradeep S Pallan, Martin A Maier, Martin Egli, Muthiah Manoharan
Here we report the investigation of glycol nucleic acid (GNA), an acyclic nucleic acid analogue, as a modification of siRNA duplexes. We evaluated the impact of (S)- or (R)-GNA nucleotide incorporation on RNA duplex structure by determining three individual crystal structures. These structures indicate that the (S)-nucleotide backbone adopts a conformation that has little impact on the overall duplex structure, while the (R)-nucleotide disrupts the phosphate backbone and hydrogen bonding of an adjacent base pair...
June 19, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28570028/transthyretin-stability-is-critical-in-assisting-beta-amyloid-clearance-relevance-of-transthyretin-stabilization-in-alzheimer-s-disease
#18
Mobina Alemi, Sara C Silva, Isabel Santana, Isabel Cardoso
BACKGROUND: The absence of transthyretin (TTR) in AD mice decreases brain Aβ clearance and reduces the low-density lipoprotein receptor-related protein 1 (LRP1). It is possible that neuroprotection by TTR is dependent on its tetramer structural stability, as studies using TTR mutants showed that unstable L55P TTR has low affinity for Aβ, and TTR tetrameric stabilizers such as iododiflunisal ameliorate AD features in vivo. METHODS: We firstly investigated TTR folding status in human plasma measuring the resistance to urea denaturation...
July 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28560598/the-impact-of-residual-disease-after-preoperative-systemic-therapy-on-clinical-outcomes-in-patients-with-inflammatory-breast-cancer
#19
Faina Nakhlis, Meredith M Regan, Laura E Warren, Jennifer R Bellon, Judith Hirshfield-Bartek, Margaret M Duggan, Laura S Dominici, Mehra Golshan, Heather A Jacene, Eren D Yeh, Erin E Mullaney, Beth Overmoyer
BACKGROUND: Inflammatory breast cancer (IBC) is a rare and aggressive disease treated with multimodality therapy: preoperative systemic therapy (PST) followed by modified radical mastectomy (MRM), chest wall and regional nodal radiotherapy, and adjuvant biologic therapy and/or endocrine therapy when appropriate. In non-IBC, the degree of pathologic response to PST has been shown to correlate with time to recurrence (TTR) and overall survival (OS). We sought to determine if pathologic response correlates with oncologic outcomes of IBC patients...
May 30, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28556268/incidence-of-non-amyloidogenic-mutations-in-the-transthyretin-gene-in-patients-with-autonomic-and-small-fiber-neuropathy
#20
Todd D Levine, Ruth J Bland Fnp
Introduction Mutations of the transthyretin (TTR) gene have been associated with polyneuropathy; the protein product has a tendency to form amyloid deposits in the peripheral nervous system. METHODS: Patients with small fiber neuropathy (SFN) with or without autonomic symptoms were given skin biopsies to assess nerve fiber density. Any patient with autonomic symptoms was assessed for autonomic neuropathy (AN). If testing revealed no clear cause of neuropathy, the TTR gene was sequenced...
May 26, 2017: Muscle & Nerve
keyword
keyword
3099
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"