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https://www.readbyqxmd.com/read/29775428/the-involvement-of-human-monogenic-cardiomyopathy-genes-in-experimental-polygenic-cardiac-hypertrophy
#1
Priscilla R Prestes, Francine Z Marques, Guillermo Lopez-Campos, Paul Lewandowski, Lea M D Delbridge, Fadi J Charchar, Stephen B Harrap
Hypertrophic cardiomyopathy thickens heart muscles reducing functionality and increasing risk of cardiac disease and morbidity. Genetic factors are involved, but their contribution is poorly understood. We used the hypertrophic heart rat (HHR), a unique normotensive polygenic model of cardiac hypertrophy and heart failure to investigate the role of genes associated with monogenic human cardiomyopathy. We selected 42 genes involved in monogenic human cardiomyopathies to study: 1) DNA variants, by sequencing the whole-genome of 13-week old HHR and age-matched normal heart rat (NHR), its genetic control strain; 2) mRNA expression, by targeted RNA-sequencing in left ventricles of HHR and NHR at five ages (2-days old, 4-, 13-, 33- and 50-weeks old) compared to human idiopathic dilated data; and 3) microRNA expression, with rat microRNA microarrays in left ventricles of 2-days old HHR and age-matched NHR...
May 18, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29773662/validation-of-the-16-gene-recurrence-score-in-patients-with-locoregional-high-risk-renal-cell-carcinoma-from-a-phase-3-trial-of-adjuvant-sunitinib
#2
Brian I Rini, Bernard Escudier, Jean-Francois Martini, Ahmed Magheli, Christer Svedman, Margarita Lopatin, Dejan Knezevic, Audrey D Goddard, Phillip G Febbo, Rachel Li, Xun Lin, Olga Valota, Michael Staehler, Robert J Motzer, Alain Ravaud
PURPOSE: Adjuvant sunitinib prolonged disease-free survival (DFS) (hazard ratio [HR] 0.76) in patients with locoregional high-risk renal cell carcinoma (RCC) in the S-TRAC trial (ClinicalTrials.gov NCT00375674). The 16-gene Recurrence Score (RS) assay was previously developed and validated to estimate risk for disease recurrence in patients with RCC post-nephrectomy. This analysis further validated the prognostic value of RS assay in patients from S-TRAC and explored association of RS results with prediction of sunitinib benefit...
May 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#3
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R Behr, Sanjay Sharma
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. Methods -We investigated 50 consecutive asymptomatic black and 50 white athletes aged 14-35-years-old with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology...
May 15, 2018: Circulation
https://www.readbyqxmd.com/read/29754725/-time-in-therapeutic-range-ttr-and-follow-up-of-patients-on-vitamin-k-antagonist-a-cohort-analysis
#4
E Valdelièvre, I Quéré, B Caré, J P Laroche, J F Schved
INTRODUCTION: Despite the increasing utilization of direct oral anticoagulant (DOAC) prescriptions, vitamin K antagonists (VKAs) remain the treatment of choice for treating and preventing thromboembolic events. The morbidity and mortality of VKAs are partly due to the difficulty of keeping the patient within the therapeutic range. For patients treated by VKA, time in therapeutic range (TTR) is a quality parameter of treatment, widely used in clinical trials but rarely by prescribers. It is well established that its use correlates with the risk of hemorrhage, thrombosis or mortality...
May 2018: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/29753312/impact-of-aspirin-on-warfarin-control-as-measured-by-time-in-therapeutic-range
#5
Michelle L Boyce, Alexa Zayac, Arie Davis, Tony Badrick, Shailendra Anoopkumar-Dukie, Nijole Bernaitis
Warfarin is an oral anticoagulant widely prescribed for a variety of thromboembolic indications including venous thromboembolism (VTE) deep vein thrombosis (DVT) and the prevention of stroke associated for atrial fibrillation (AF).1 Warfarin requires ongoing monitoring of Internationalised Normalised Ratio (INR) due to a narrow therapeutic index and interactions with numerous drugs.2 The time in therapeutic range (TTR) is often used to indicate the quality of warfarin therapy due to the established correlation between higher mean TTR and reduced complications such as bleeding and thromboembolism...
May 12, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29751401/exposure-to-pfdoa-causes-disruption-of-the-hypothalamus-pituitary-thyroid-axis-in-zebrafish-larvae
#6
Shengnan Zhang, Xiaochun Guo, Shaoyong Lu, Nan Sang, Guangyu Li, Ping Xie, Chunsheng Liu, Liguo Zhang, Yi Xing
Perfluorododecanoic acid (PFDoA), a kind of perfluorinated carboxylic acid (PFCA) with 12 carbon atoms, has an extensive industrial utilization and is widespread in both wildlife and the water environment, and was reported to have the potential to cause a disruption in the thyroid hormone system homeostasis. In this study, zebrafish embryos/larvae were exposed to different concentrations of PFDoA (0, 0.24, 1.2, 6 mg/L) for 96 h post-fertilization (hpf). PFDoA exposure caused obvious growth restriction connected with the reduced thyroid hormones (THs) contents in zebrafish larvae, strengthening the interference effect on the growth of fish larvae...
April 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29747616/association-of-retinol-binding-protein-4-and-transthyretin-with-triglyceride-levels-and-insulin-resistance-in-rural-thais-with-high-type-2-diabetes-risk
#7
Karunee Kwanbunjan, Pornpimol Panprathip, Chanchira Phosat, Noppanath Chumpathat, Naruemon Wechjakwen, Somchai Puduang, Ratchada Auyyuenyong, Ina Henkel, Florian J Schweigert
BACKGROUND: Retinol binding protein 4 (RBP4), a protein secreted by adipocytes and bound in plasma to transthyretin (TTR), has been associated with obesity, the early phase of insulin resistance, metabolic syndrome, and type 2 diabetes mellitus. The objective of this study was to elucidate the relationship between RBP4, TTR, triglyceride (TG) and type 2 diabetes risk in rural Thailand. METHODS: We measured the serum RBP4, TTR, glucose, triglyceride and insulin levels, and glucose tolerance of 167 volunteers from Sung Noen District, Nakhon Ratchasima Province, Thailand...
May 10, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29740750/comparing-the-cost-effectiveness-of-non-vitamin-k-antagonist-oral-anticoagulants-with-well-managed-warfarin-for-stroke-prevention-in-atrial-fibrillation-patients-at-high-risk-of-bleeding
#8
Alexa R Hospodar, Kenneth J Smith, Yuting Zhang, Inmaculada Hernandez
BACKGROUND: Several studies have compared the cost effectiveness of non-vitamin K antagonist oral anticoagulants (NOACs) and warfarin using results from clinical trials evaluating NOACs. However, the time in therapeutic range (TTR) of warfarin groups ranged across clinical trials, and all were below the therapeutic goal of 70%. We compared the cost effectiveness of edoxaban 60 mg, apixaban 5 mg, dabigatran 150 mg, dabigatran 110 mg, rivaroxaban 20 mg, and well-managed warfarin with a TTR of 70% in preventing stroke among patients with atrial fibrillation at high risk of bleeding...
May 9, 2018: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/29733815/gene-transcription-ontogeny-of-hypothalamic-pituitary-thyroid-axis-development-in-early-life-stage-fathead-minnow-and-zebrafish
#9
Lucia Vergauwen, Jenna E Cavallin, Gerald T Ankley, Chloé Bars, Isabelle J Gabriëls, Ellen D G Michiels, Krysta R Fitzpatrick, Jelena Periz-Stanacev, Eric C Randolph, Serina L Robinson, Travis W Saari, Anthony L Schroeder, Evelyn Stinckens, Joe Swintek, Steven J Van Cruchten, Evy Verbueken, Daniel L Villeneuve, Dries Knapen
The hypothalamic-pituitary-thyroid (HPT) axis is known to play a crucial role in the development of teleost fish. However, knowledge of endogenous transcription profiles of thyroid-related genes in developing teleosts remains fragmented. We selected two model teleost species, the fathead minnow (Pimephales promelas) and the zebrafish (Danio rerio), to compare the gene transcription ontogeny of the HPT axis. Control organisms were sampled at several time points during embryonic and larval development until 33 days post-fertilization...
May 4, 2018: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/29729204/outcome-of-anti-viral-immunity-in-the-liver-is-shaped-by-the-level-of-antigen-expressed-in-infected-hepatocytes
#10
Katrin Manske, Nina Kallin, Verena König, Annika Schneider, Sandra Kurz, Miriam Bosch, Meike Welz, Ru-Lin Cheng, Bertram Bengsch, Katja Steiger, Ulrike Protzer, Robert Thimme, Percy A Knolle, Dirk Wohlleber
The liver bears unique immune-properties supporting both immune tolerance and immunity, but the mechanisms responsible for clearance versus persistence of virus-infected hepatocytes remains unclear. Here, we dissect the factors determining the outcome of anti-viral immunity using novel recombinant adenoviruses reflecting the hepatropism and -trophism of hepatitis viruses. We generated replication-deficient adenoviruses with equimolar ovalbumin, luciferase and GFP-expression driven by strong ubiquitous CMV-promoter (Ad-CMV-GOL) or by 100-fold weaker, yet hepatocyte-specific Transthyretin(TTR)-promoter (Ad-TTR-GOL)...
May 5, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29725167/the-role-of-clinical-variables-and-vkorc1-polymorphism-in-efficacy-and-stability-of-acenocoumarol-in-neurological-patients
#11
Surendra Kumar, Ashish Kant Dubey, Jayantee Kalita, Usha Kant Misra
Objective: To analyze the clinical importance of VKORC1 polymorphism and its correlation with stability of oral anticoagulation. Patients and Methods: In a hospital-based study, the patients on oral anticoagulant (OAC) were included during 2013-2016. The patients received OAC for cardioembolic stroke, cerebral venous sinus thrombosis (CVST), and prevention of deep vein thrombosis (DVT). Demographic, clinical, and neurological findings were recorded. Stability of anticoagulation was determined by percentage of time international normalized ratio (INR) values were in therapeutic range...
April 2018: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/29723987/long-term-statin-administration-does-not-affect-warfarin-time-in-therapeutic-range-in-australia-or-singapore
#12
Nijole Bernaitis, Chi Keong Ching, Siew Chong Teo, Tony Badrick, Andrew K Davey, Julia Crilly, Shailendra Anoopkumar-Dukie
BACKGROUND: Warfarin requires ongoing monitoring of the International Normalised Ratio (INR). This is because numerous factors influence the response, including drug interactions with commonly-prescribed medications, such as statins. The administration of statins with warfarin may change INR; however, there is limited information regarding the effects on warfarin control as measured by time in therapeutic range (TTR). Statins may also alter bleeds with warfarin, but there are conflicting reports demonstrating both increased and decreased bleeds, and limited data on diverse ethnic populations...
May 1, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29719997/fluorodeoxyglucose-positron-emission-tomography-for-detection-of-tumor-recurrence-following-radiofrequency-ablation-in-retrospective-cohort-of-stage-i-lung-cancer
#13
Yingbing Wang, Michael Lanuti, Adam Bernheim, Jo-Anne O Shepard, Amita Sharma
PURPOSE: The goal of this study was to define patterns for tumor recurrence on PET following RFA, compare time to imaging recurrence by PET versus CT, evaluate whether pre-treatment tumor uptake predicts recurrence and propose an optimal post-RFA surveillance strategy. MATERIALS AND METHODS: A retrospective cohort study was performed of biopsy confirmed primary stage I lung cancers treated with RFA. FDG PET and near contemporaneous diagnostic CT imaging pre-ablation, within 30 days post-ablation, and beyond 6 months were independently and retrospectively evaluated for features supportive of recurrence...
May 3, 2018: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/29708356/mapk-erk-signal-pathway-alterations-in-patients-with-langerhans-cell-histiocytosis
#14
Olga Novosad, Tanya Skrypets, Yan Pastushenko, Iryna Titorenko, Arina Martynchyk, Oksana Skachkova, Mariia Inomistova, Alex Gorbach, Nataliia Khranovska, Irina Kryachok
BACKGROUND: Clinical outcomes of Langerhans cell histiocytosis (LCH) are highly variable. It has been suggested that mitogen-activated protein kinase (MAPK) /extracellular signal-regulated kinases (ERK) signaling pathway might be activated in LCH patients. MATERIALS AND METHODS: We investigated KRAS, BRAF and NRAS mutations in patients with LCH by qPCR. RESULTS: Eight adult patients with LCH were treated at the National Cancer Institute, Kiev, Ukraine...
2018: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/29707333/current-outcomes-of-postrecurrence-survival-in-patients-after-resection-of-non-small-cell-lung-cancer
#15
Tetsuya Mizuno, Takaaki Arimura, Hiroaki Kuroda, Noriaki Sakakura, Yasushi Yatabe, Yukinori Sakao
Background: Despite complete resection, patients with resectable non-small cell lung cancer (NSCLC) sometimes experience recurrence in various sites, generally with an unfavorable prognosis. Receptor tyrosine kinase inhibitors (TKIs) have produced a dramatic response in patients with advanced NSCLC harboring sensitive mutations. Methods: We retrospectively investigated 281 patients with recurrence who underwent complete resection of their NSCLC between January 2005 and December 2013 with tumors in which the status of epidermal growth factor receptor (EGFR) mutation, KRAS mutation, and anaplastic lymphoma kinase (ALK) rearrangement was confirmed...
March 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29706468/-assessing-post-hospitalization-therapeutic-ranges-in-elderly-patients-treated-for-atrial-fibrillation-with-vitamin-k-antagonists
#16
D Bureau, C Laget, J-P Cambus, J Constans, A Trinh-Duc
BACKGROUND: In France, anticoagulants are among the most recommended treatments for serious accidents, particularly among the elderly. OBJECTIVES: The purpose of this study was to evaluate the impact of practical and validated tools designed to reduce the negative effects of vitamin K antagonist (VKA) treatments by assessing patients before and after the tools were implemented. METHODS: An exhaustive before and after multi-centric cohort study was performed in the Agen territory...
April 26, 2018: Annales Pharmaceutiques Françaises
https://www.readbyqxmd.com/read/29704269/genotype-guided-warfarin-dosing-versus-conventional-dosing-strategies-a-systematic-review-and-meta-analysis-of-randomized-controlled-trials
#17
Gary Tse, Mengqi Gong, Guangping Li, Sunny Hei Wong, William K K Wu, Wing Tak Wong, Leonardo Roever, Alex Pui Wai Lee, Gregory Y H Lip, Martin C S Wong, Tong Liu
BACKGROUND: Previous trials on the effectiveness of genotype-guided warfarin dosing versus conventional dosing have been inconclusive. We conducted a systematic review and meta-analysis of randomized trials comparing genotype-guided to conventional dosing strategies. METHODS: PubMed and Cochrane Library were searched until 23rd October 2017. RESULTS: A total of 76 and 94 entries were retrieved. A total of 2626 subjects in the genotype-guided dosing (mean age: 63...
April 28, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29701873/children-with-intestinal-failure-undergoing-intestinal-rehabilitation-are-at-risk-for-essential-fatty-acid-deficiency
#18
Riikka Gunnar, Mirka Lumia, Mikko Pakarinen, Laura Merras-Salmio
BACKGROUND: Essential fatty acid (EFA) status may be compromised during the intestinal failure (IF) rehabilitation. Parenteral lipid restriction is used to treat intestinal failure associated liver disease (IFALD), while the enteral fatty acid (FA) absorption remains limited. We analyzed the FA status among pediatric IF and intestinal insufficiency patients. METHODS: We evaluated 49 patients aged 0-18 years attending our nationwide IF referral center. Their serum FA fractions were determined and examined against previous nutrition, parenteral lipid emulsion, and intestinal anatomy data...
April 27, 2018: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29687207/diagnostic-accuracy-of-bone-scintigraphy-in-the-assessment-of-cardiac-transthyretin-related-amyloidosis-a-bivariate-meta-analysis
#19
Giorgio Treglia, Andor W J M Glaudemans, Francesco Bertagna, Bouke P C Hazenberg, Paola A Erba, Raffaele Giubbini, Luca Ceriani, John O Prior, Luca Giovanella, Riemer H J A Slart
PURPOSE: Cardiac transthyretin-related amyloidosis (ATTR) is a progressive and fatal cardiomyopathy. The diagnosis of this disease is frequently delayed or missed due to the limited specificity of echocardiography. An increasing amount of data in the literature demonstrate the ability of bone scintigraphy with bone-seeking radiopharmaceuticals to detect myocardial amyloid deposits, in particular in patients with ATTR. Therefore we performed a systematic review and bivariate meta-analysis of the diagnostic accuracy of bone scintigraphy in patients with suspected cardiac ATTR...
April 23, 2018: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29683881/gastric-type-adenocarcinoma-of-the-uterine-cervix-magnetic-resonance-imaging-features-clinical-outcomes-and-prognostic-factors
#20
Kye Jin Park, Mi-Hyun Kim, Jeong Kon Kim, Kyoung-Sik Cho
OBJECTIVE: Gastric-type mucinous adenocarcinoma (GAS) of uterine cervix has been suggested as distinct clinicopathologic behavior. Our study aimed to investigate the distinguishing imaging features and clinical outcomes of GAS. METHODS: Fifteen cases of GAS and 45 cases of 3:1 age-matched usual-type endocervical carcinoma (UEA) were assessed. Clinical parameters (age, tumor size, clinical stage, and time to recurrence [TTR] or death) and pathologic results confirmed by surgery were recorded...
April 21, 2018: International Journal of Gynecological Cancer
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