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Barth study

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https://www.readbyqxmd.com/read/29773157/genetic-etiology-for-alcohol-induced-cardiac-toxicity
#1
James S Ware, Almudena Amor-Salamanca, Upasana Tayal, Risha Govind, Isabel Serrano, Joel Salazar-Mendiguchía, Jose Manuel García-Pinilla, Domingo A Pascual-Figal, Julio Nuñez, Gonzalo Guzzo-Merello, Emiliano Gonzalez-Vioque, Alfredo Bardaji, Nicolas Manito, Miguel A López-Garrido, Laura Padron-Barthe, Elizabeth Edwards, Nicola Whiffin, Roddy Walsh, Rachel J Buchan, William Midwinter, Alicja Wilk, Sanjay Prasad, Antonis Pantazis, John Baski, Declan P O'Regan, Luis Alonso-Pulpon, Stuart A Cook, Enrique Lara-Pezzi, Paul J Barton, Pablo Garcia-Pavia
BACKGROUND: Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardiac toxicity on exposure to alcohol. OBJECTIVES: This study sought to evaluate the role of variation in cardiomyopathy-associated genes in the pathophysiology of ACM, and to examine the effects of alcohol intake and genotype on dilated cardiomyopathy (DCM) severity. METHODS: The authors characterized 141 ACM cases, 716 DCM cases, and 445 healthy volunteers...
May 22, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29765249/is-progression-free-survival-a-more-relevant-endpoint-than-overall-survival-in-first-line-hr-her2-metastatic-breast-cancer
#2
Anna Forsythe, David Chandiwana, Janina Barth, Marroon Thabane, Johan Baeck, Anastasiya Shor, Gabriel Tremblay
Background: Hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-), metastatic breast cancer (MBC) accounts for 73% of all MBCs. Endocrine therapy (ET) is the basis of first-line (1L) therapy for patients with HR+/HER2- MBC. Novel therapies have demonstrated improvements in progression-free survival (PFS) compared to ET. The clinical relevance of PFS is being debated, as there is no proven direct correlation with overall survival (OS) benefit to date...
2018: Cancer Management and Research
https://www.readbyqxmd.com/read/29765247/progression-free-survival-time-to-progression-as-a-potential-surrogate-for-overall-survival-in-hr-her2-metastatic-breast-cancer
#3
Anna Forsythe, David Chandiwana, Janina Barth, Marroon Thabane, Johan Baeck, Gabriel Tremblay
Background: Several recent randomized controlled trials (RCTs) in hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) metastatic breast cancer (MBC) have demonstrated significant improvements in progression-free survival (PFS); however, few have reported improvement in overall survival (OS). The surrogacy of PFS or time to progression (TTP) for OS has not been formally investigated in HR+, HER2- MBC. Methods: A systematic literature review of RCTs in HR+, HER2- MBC was conducted to identify studies that reported both median PFS/TTP and OS...
2018: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/29758887/arsenic-rich-shallow-groundwater-in-sandy-aquifer-systems-buffered-by-rising-carbonate-waters-a-geochemical-case-study-from-mannar-island-sri-lanka
#4
U G C Bandara, Saranga Diyabalanage, Christian Hanke, Robert van Geldern, Johannes A C Barth, Rohana Chandrajith
Major ion, trace elements, and stable isotope analyses were performed on groundwater samples collected from Mannar Island in the northern Indian Ocean. Arsenic concentrations up to 34μg/L have been observed in groundwater samples from the island. In addition, 23% of extensively used shallow drinking water wells showed higher arsenic contents than the recommended value by the World Health Organization (10μg/L). Groundwater in the island showed pH values between 6.9 and 8.9 and was dominated by Na+ , K+ , Ca2+ , Mg2+ , HCO3 - , Cl- and SO4 2- ...
August 15, 2018: Science of the Total Environment
https://www.readbyqxmd.com/read/29752648/human-cystic-echinococcosis-in-hungary-2000-2014-a-retrospective-case-series-analysis-from-a-single-center-study
#5
Balázs Dezsényi, Áron Somorácz, József Danka, István Kucsera, Thomas F E Barth, Adriano Casulli
PURPOSE: Cystic echinococcosis (CE) is a parasitic disease caused by the tapeworm Echinococcus granulosus sensu lato. Although in Hungary the disease is listed among reportable infections, inadequacies in the reporting practice of CE by clinicians and pathologists have resulted in underscoring of this disease. The aim of this study was to describe the epidemiological and clinical characteristics of CE in Hungary using a datasource other than the official records that are based mainly on serological data...
May 11, 2018: Infection
https://www.readbyqxmd.com/read/29752207/a-cross-sport-comparison-of-performance-based-outcomes-of-professional-athletes-following-primary-microfracture-of-the-knee
#6
Michael S Schallmo, Sameer K Singh, Kathryn A Barth, Ryan D Freshman, Harry T Mai, Wellington K Hsu
BACKGROUND: The purpose of this study was to compare performance-based outcomes among professional athletes in four major North American sports following microfracture to treat symptomatic chondral defects of the knee. METHODS: Major League Baseball (MLB), National Basketball Association (NBA), National Football League (NFL), and National Hockey League (NHL) athletes who underwent primary unilateral microfracture of the knee were identified through a previously reported protocol based on public sources...
May 8, 2018: Knee
https://www.readbyqxmd.com/read/29747831/arterial-pulsatility-and-circulating-von-willebrand-factor-in-patients-on-mechanical-circulatory-support
#7
Flavien Vincent, Antoine Rauch, Valentin Loobuyck, Emmanuel Robin, Christoph Nix, André Vincentelli, David M Smadja, Pascal Leprince, Julien Amour, Gilles Lemesle, Hugues Spillemaeker, Nicolas Debry, Christian Latremouille, Piet Jansen, Antoine Capel, Mouhamed Moussa, Natacha Rousse, Guillaume Schurtz, Cédric Delhaye, Camille Paris, Emmanuelle Jeanpierre, Annabelle Dupont, Delphine Corseaux, Mickaël Rosa, Yoann Sottejeau, Svenja Barth, Claudia Mourran, Valérie Gomane, Augustin Coisne, Marjorie Richardson, Claudine Caron, Cristian Preda, Alexandre Ung, Alain Carpentier, Thomas Hubert, Cécile Denis, Bart Staels, Peter J Lenting, Eric Van Belle, Sophie Susen
BACKGROUND: The main risk factor for bleeding in patients with continuous-flow mechanical circulatory support (CF-MCS) is the acquired von Willebrand factor (VWF) defect related to the high shear-stress forces developed by these devices. Although a higher bleeding rate has been reported in CF-MCS recipients who had reduced pulsatility, the relation between pulsatility and the VWF defect has never been studied. OBJECTIVES: The purpose of this study was to investigate the relation between pulsatility and VWF under CF-MCS...
May 15, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29746340/recommendations-for-diagnosis-and-management-of-autoimmune-pancreatitis-in-childhood-consensus-from-insppire
#8
Isabelle Scheers, Joseph J Palermo, Steven Freedman, Michael Wilschanski, Uzma Shah, Maisam Abu-El-Haija, Bradley Barth, Douglas S Fishman, Cheryl Gariepy, Matthew J Giefer, Melvin B Heyman, Ryan W Himes, Sohail Z Husain, Tom K Lin, Quin Liu, Mark Lowe, Maria Mascarenhas, Veronique Morinville, Chee Y Ooi, Emily R Perito, David A Piccoli, John F Pohl, Sarah J Schwarzenberg, David Troendle, Steven Werlin, Bridget Zimmerman, Aliye Uc, Tanja Gonska
OBJECTIVES: Autoimmune pancreatitis (AIP) represents a complex immune-mediated pancreas disorder. Pediatric AIP (P-AIP) is rare. We have recently summarized the characteristic features of P-AIP. We now aim to develop recommendation statements to standardize the diagnostic and therapeutic approach to P-AIP and facilitate future research in the field. METHODS: A panel of pediatric gastroenterologists participating in the International Study Group of Pediatric Pancreatitis: In search for a cuRE (INSPPIRE) was formed to discuss and then vote on 15 recommendation statements...
May 9, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29743927/functional-characterization-of-the-hyles-euphorbiae-hawkmoth-transcriptome-reveals-strong-expression-of-phorbol-ester-detoxification-and-seasonal-cold-hardiness-genes
#9
M Benjamin Barth, Katja Buchwalder, Akito Y Kawahara, Xin Zhou, Shanlin Liu, Nicolas Krezdorn, Björn Rotter, Ralf Horres, Anna K Hundsdoerfer
Background: The European spurge hawkmoth, Hyles euphorbiae (Lepidoptera, Sphingidae), has been intensively studied as a model organism for insect chemical ecology, cold hardiness and evolution of species delineation. To understand species isolation mechanisms at a molecular level, this study aims at determining genetic factors underlying two adaptive ecological trait candidates, phorbol ester (TPA) detoxification and seasonal cold acclimation. Method: A draft transcriptome of H...
2018: Frontiers in Zoology
https://www.readbyqxmd.com/read/29742427/hippocampal-network-dynamics-during-rearing-episodes
#10
Albert M Barth, Andor Domonkos, Antonio Fernandez-Ruiz, Tamas F Freund, Viktor Varga
Animals build a model of their surroundings on the basis of information gathered during exploration. Rearing on the hindlimbs changes the vantage point of the animal, increasing the sampled area of the environment. This environmental knowledge is suggested to be integrated into a cognitive map stored by the hippocampus. Previous studies have found that damage to the hippocampus impairs rearing. Here, we characterize the operational state of the hippocampus during rearing episodes. We observe an increase of theta frequency paralleled by a sink in the dentate gyrus and a prominent theta-modulated fast gamma transient in the middle molecular layer...
May 8, 2018: Cell Reports
https://www.readbyqxmd.com/read/29742405/molecular-dynamics-analysis-of-cardiolipin-and-monolysocardiolipin-on-bilayer-properties
#11
Kevin J Boyd, Nathan N Alder, Eric R May
The mitochondrial lipid cardiolipin (CL) contributes to the spatial protein organization and morphological character of the inner mitochondrial membrane. Monolysocardiolipin (MLCL), an intermediate species in the CL remodeling pathway, is enriched in the multisystem disease Barth syndrome. Despite the medical relevance of MLCL, a detailed molecular description that elucidates the structural and dynamic differences between CL and MLCL has not been conducted. To this end, we performed comparative atomistic molecular dynamics studies on bilayers consisting of pure CL or MLCL to elucidate similarities and differences in their molecular and bulk bilayer properties...
May 8, 2018: Biophysical Journal
https://www.readbyqxmd.com/read/29738028/quantitative-detection-of-bk-virus-in-kidney-transplant-recipients-a-prospective-validation-study
#12
Gabriel Godinho Pinto, José Antonio Tesser Poloni, Diego D'Avila Paskulin, Fabio Spuldaro, Fernanda de Paris, Afonso Luís Barth, Roberto Ceratti Manfro, Elizete Keitel, Alessandro C Pasqualotto
INTRODUCTION: BK virus (BKV) infection in renal transplant patients may cause kidney allograft dysfunction and graft loss. Accurate determination of BKV viral load is critical to prevent BKV-associated nephropathy (BKVAN) but the cut-off that best predicts BKVAN remains controversial. OBJECTIVE: To evaluate the performance of a commercial and an in-house qPCR test for quantitative detection of BK virus in kidney transplant recipients. METHODS: This was a prospective study with kidney transplant recipients from two large university hospitals in Brazil...
April 19, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29730458/annular-closure-in-lumbar-microdiskectomy-for-prevention-of-reherniation-a-randomized-clinical-trial
#13
Claudius Thomé, Peter Douglas Klassen, Gerrit J Bouma, Adisa Kursumovic, Javier Fandino, Martin Barth, Mark Arts, Wimar van den Brink, Richard Bostelmann, Aldemar Hegewald, Volkmar Heidecke, Peter Vajkoczy, Susanne Fröhlich, Jasper Wolfs, Richard Assaker, Erik Van de Kelft, Hans-Peter Köhler, Senol Jadik, Sandro Eustacchio, Robert Hes, Frederic Martens
BACKGROUND CONTEXT: Patients with large annular defects following lumbar diskectomy for disk herniation are at high risk for symptomatic recurrence and reoperation. PURPOSE: To determine whether a bone-anchored annular closure device in addition to lumbar microdiskectomy resulted in lower reherniation and reoperation rates plus increased overall success compared to lumbar microdiskectomy alone. DESIGN: Multicenter, randomized superiority study...
May 3, 2018: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/29722659/tolerability-of-adxs11-001-lm-llo-listeria-based-immunotherapy-with-mitomycin-fluorouracil-and-radiation-for-anal-cancer
#14
Howard Safran, Kara-Lynne Leonard, Kimberly Perez, Matthew Vrees, Adam Klipfel, Steven Schechter, Nicklas Oldenburg, Leslie Roth, Nishit Shah, Kayla Rosati, Lakshmi Rajdev, Kalyan Mantripragada, Iris Y Sheng, Peter Barth, Thomas A DiPetrillo
PURPOSE: To obtain safety and preliminary efficacy data of the combination of ADXS11-001, live attenuated Listeria monocytogenes bacterium, with mitomycin, 5-fluorouracil (5-FU), and intensity modulated radiation therapy in locally advanced anal cancer. PATIENTS AND METHODS: Eligibility included patients with previously untreated, nonmetastatic anal cancer with a primary tumor >4 cm or node-positive disease. Patients received 2 cycles of mitomycin and 5-FU concurrent with 54...
April 1, 2018: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29716614/lewy-body-like-alpha-synuclein-inclusions-trigger-reactive-microgliosis-prior-to-nigral-degeneration
#15
Megan F Duffy, Timothy J Collier, Joseph R Patterson, Christopher J Kemp, Kelvin C Luk, Malú G Tansey, Katrina L Paumier, Nicholas M Kanaan, Luke D Fischer, Nicole K Polinski, Olivia L Barth, Jacob W Howe, Nishant N Vaikath, Nour K Majbour, Omar M A El-Agnaf, Caryl E Sortwell
BACKGROUND: Converging evidence suggests a role for microglia-mediated neuroinflammation in Parkinson's disease (PD). Animal models of PD can serve as a platform to investigate the role of neuroinflammation in degeneration in PD. However, due to features of the previously available PD models, interpretations of the role of neuroinflammation as a contributor to or a consequence of neurodegeneration have remained elusive. In the present study, we investigated the temporal relationship of neuroinflammation in a model of synucleinopathy following intrastriatal injection of pre-formed alpha-synuclein fibrils (α-syn PFFS)...
May 1, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29713484/impact-of-transcatheter-aortic-valve-implantation-on-the-risk-of-mortality-in-patients-with-severe-aortic-valve-diseases-a-health-insurance-based-analysis
#16
Alexander Barth, Seyrani Yücel, Hüseyin Ince, Gabriele Doblhammer
Background: Transcatheter aortic valve implantation (TAVI) is a minimally invasive treatment for aortic valve patients who are inoperable or have a prohibitively high surgical risk for surgical aortic valve replacement (SAVR). Most studies compare the efficacy of TAVI and SAVR, yet the assessment of TAVI for this group of patients requires more study. Methods: This quasiexperimental study compares TAVI cases (ages of 75-90 years, n=187) ex-post with a control group without implantation (n=728, 4:1 ratio intended)...
2018: Open Heart
https://www.readbyqxmd.com/read/29701283/therapeutic-effect-of-northern-labrador-tea-extracts-for-acute-myeloid-leukemia
#17
Colin M McGill, Patrick L Tomco, Regina M Ondrasik, Kaitlyn C Belknap, Gaelen K Dwyer, Daniel J Quinlan, Thomas A Kircher, Cheryl P Andam, Timothy J Brown, David F Claxton, Brian M Barth
Acute myeloid leukemia (AML) is an aggressive hematological malignancy that is one of the more common pediatric malignancies in addition to occurring with high incidence in the aging population. Unfortunately, these patient groups are quite sensitive to toxicity from chemotherapy. Northern Labrador tea, or Rhododendron tomentosum Harmaja (a.k.a. Ledum palustre subsp. decumbens) or "tundra tea," is a noteworthy medicinal plant used by indigenous peoples in Alaska, Canada, and Greenland to treat a diversity of ailments...
April 27, 2018: Phytotherapy Research: PTR
https://www.readbyqxmd.com/read/29695963/the-effects-of-ppar-stimulation-on-cardiac-metabolic-pathways-in-barth-syndrome-mice
#18
Caitlin Schafer, Vicky Moore, Nupur Dasgupta, Sabzali Javadov, Jeanne F James, Alexander I Glukhov, Arnold W Strauss, Zaza Khuchua
Aim: Tafazzin knockdown (TazKD) in mice is widely used to create an experimental model of Barth syndrome (BTHS) that exhibits dilated cardiomyopathy and impaired exercise capacity. Peroxisome proliferator-activated receptors (PPARs) are a group of nuclear receptor proteins that play essential roles as transcription factors in the regulation of carbohydrate, lipid, and protein metabolism. We hypothesized that the activation of PPAR signaling with PPAR agonist bezafibrate (BF) may ameliorate impaired cardiac and skeletal muscle function in TazKD mice...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29695756/disease-causing-variants-in-tcf4-are-a-frequent-cause-of-intellectual-disability-lessons-from-large-scale-sequencing-approaches-in-diagnosis
#19
Laura Mary, Amélie Piton, Elise Schaefer, Francesca Mattioli, Elsa Nourisson, Claire Feger, Claire Redin, Magali Barth, Salima El Chehadeh, Estelle Colin, Christine Coubes, Laurence Faivre, Elisabeth Flori, David Geneviève, Yline Capri, Laurence Perrin, Jennifer Fabre-Teste, Dana Timbolschi, Alain Verloes, Robert Olaso, Anne Boland, Jean-François Deleuze, Jean-Louis Mandel, Bénédicte Gerard, Irina Giurgea
High-throughput sequencing (HTS) of human genome coding regions allows the simultaneous screen of a large number of genes, significantly improving the diagnosis of non-syndromic intellectual disabilities (ID). HTS studies permit the redefinition of the phenotypical spectrum of known disease-causing genes, escaping the clinical inclusion bias of gene-by-gene Sanger sequencing. We studied a cohort of 903 patients with ID not reminiscent of a well-known syndrome, using an ID-targeted HTS of several hundred genes and found de novo heterozygous variants in TCF4 (transcription factor 4) in eight novel patients...
April 26, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29694924/loss-of-tafazzin-results-in-decreased-myoblast-differentiation-in-c2c12-cells-a-myoblast-model-of-barth-syndrome-and-cardiolipin-deficiency
#20
Wenjia Lou, Christian A Reynolds, Yiran Li, Jenney Liu, Maik Hüttemann, Michael Schlame, David Stevenson, Douglas Strathdee, Miriam L Greenberg
Barth syndrome (BTHS) is an X-linked genetic disorder resulting from mutations in the tafazzin gene (TAZ), which encodes the transacylase that remodels the mitochondrial phospholipid cardiolipin (CL). While most BTHS patients exhibit pronounced skeletal myopathy, the mechanisms linking defective CL remodeling and skeletal myopathy have not been determined. In this study, we constructed a CRISPR-generated stable tafazzin knockout (TAZ-KO) C2C12 myoblast cell line. TAZ-KO cells exhibit mitochondrial deficits consistent with other models of BTHS, including accumulation of monolyso-CL (MLCL), decreased mitochondrial respiratory, and increased mitochondrial ROS production...
April 22, 2018: Biochimica et Biophysica Acta
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