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Marius Catalin Staiculescu, Austin Cocciolone, Jesse Procknow, Jungsil Kim, Jessica E Wagenseil
Elastic fibers provide reversible elasticity to the large arteries and are assembled during development when hemodynamic forces are increasing. Mutations in elastic fiber genes are associated with cardiovascular disease. Mice lacking expression of the elastic fiber genes elastin (Eln-/- ), fibulin-4 (Efemp2-/- ), or lysyl oxidase (Lox-/- ) die at birth with severe cardiovascular malformations. All three genetic knockout models have elastic fiber defects, aortic wall thickening, and arterial tortuosity. However, Eln-/- mice develop arterial stenoses, while Efemp2-/- and Lox-/- mice develop ascending aortic aneurysms...
October 12, 2018: Physiological Genomics
Laura Jamrog, Guillaume Chemin, Vincent Fregona, Lucie Coster, Marlène Pasquet, Chloé Oudinet, Nelly Rouquié, Naïs Prade, Stéphanie Lagarde, Charlotte Cresson, Sylvie Hébrard, Ngoc Sa Nguyen Huu, Marina Bousquet, Cathy Quelen, Pierre Brousset, Stéphane J C Mancini, Eric Delabesse, Ahmed Amine Khamlichi, Bastien Gerby, Cyril Broccardo
PAX5 is a well-known haploinsufficient tumor suppressor gene in human B-cell precursor acute lymphoblastic leukemia (B-ALL) and is involved in various chromosomal translocations that fuse a part of PAX5 with other partners. However, the role of PAX5 fusion proteins in B-ALL initiation and transformation is ill-known. We previously reported a new recurrent t(7;9)(q11;p13) chromosomal translocation in human B-ALL that juxtaposed PAX5 to the coding sequence of elastin ( ELN ). To study the function of the resulting PAX5-ELN fusion protein in B-ALL development, we generated a knockin mouse model in which the PAX5-ELN transgene is expressed specifically in B cells...
September 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
Manohar Rebecca, Ramakrishnan Gayathri, Renganathan Bhuvanasundar, Krishnamoorthy Sripriya, Balekudaru Shantha, Narayanasamy Angayarkanni
BACKGROUND: Pseudoexfoliation syndrome (PXF) is an idiopathic, elastogenesis-associated systemic disease characterised by amyloid-like material aggregates in the eye. Elevated plasma and aqueous humour (aqH) homocysteine (Hcy) is reportedly associated with PXF. This study is aimed to probe Hcy-mediated alterations in elastin expression. METHODOLOGY: Lens level of Hcy (total Hcy (tHcy)), mRNA expression of Eln , CBS and MTR in lens capsule , protein expression of elastin in aqH were estimated by enzyme immunoassay, quantitative PCR and western blot, respectively in PXF, PXF with glaucoma (PXF-G) cases, in comparison with cataract-alone disease controls...
September 24, 2018: British Journal of Ophthalmology
Motofumi Saitoh, Xiang Gao, Takafumi Ogawa, Yumi H Ikuhara, Shunsuke Kobayashi, Craig A J Fisher, Akihide Kuwabara, Yuichi Ikuhara
Electrical conductivity, state of charge and chemical stability of Li-ion battery materials all depend on the electronic states of their component atoms, and tools for measuring these reliably are needed for advanced materials analysis and design. Here we report a systematic investigation of electron energy-loss near-edge structures (ELNES) of Li-K and O-K edges for ten representative Li-ion battery electrodes and solid-state electrolytes obtained by performing transmission electron microscopy with a Wien-filter monochromator-equipped microscope...
October 3, 2018: Physical Chemistry Chemical Physics: PCCP
Satoshi Hayano, Yusuke Okuno, Makiko Tsutsumi, Hidehito Inagaki, Yoshie Fukasawa, Hiroki Kurahashi, Seiji Kojima, Yoshiyuki Takahashi, Taichi Kato
BACKGROUND: Supravalvular aortic stenosis (SVAS) is a congenital heart disease affecting approximately 1:25,000 live births. SVAS may occur sporadically, be inherited in an autosomal dominant manner, or be associated with Williams-Beuren syndrome, a complex developmental disorder caused by a microdeletion of chromosome 7q11.23. ELN on 7q11.23, which encodes elastin, is the only known gene to be recurrently mutated in less than half of SVAS patients. METHODS: Whole-exome sequencing (WES) was performed for seven familial SVAS families to identify other causative gene mutations of SVAS...
September 13, 2018: International Journal of Cardiology
Ze-Long Yang, Ming-Hua Zhu, Quan Shi, Fu-Min Lu, Chun-Xi Wang
BACKGROUND: Our aim was to evaluate the prognostic value of the number of lymph nodes examined (eLNs) in patients with node-negative gastric cancer (GC) and further to adjust the American Joint Committee on Cancer (AJCC) 8th staging system based on the number of eLNs. METHODS: Node-negative GC patients diagnosed during 1988-2015 from the Surveillance, Epidemiology, and End Results (SEER) database were included. On the basis of a primary cohort of 4159 node-negative GC patients, we built the adjusted AJCC 8th staging system, which was then internally validated by a bootstrap method, and externally validated with an independent cohort of 5565 node-negative GC patients...
September 17, 2018: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
Seo-Yeon Park, Eun Jung Byun, Jeong Deuk Lee, Sungjoo Kim, Hei Sung Kim
A World Health Organization (WHO) report from 2016 states that over 3 million people die annually from air pollution, which places air pollution as the world's largest single environmental health risk factor. Particulate matter (PM) is one of the main components of air pollution, and there is increasing evidence that PM exposure exerts negative effects on the human skin. To see the impact of air pollution on skin aging, we analyzed the effect of PM exposure on human dermal fibroblasts (HDFs) with Western blot, enzyme-linked immunosorbent assay (ELISA), and gene analysis...
September 12, 2018: International Journal of Molecular Sciences
Karsten Spiekermann, Anne-Sophie Shen
There are several changes in the revised WHO classification for acute leukemia. The latest version of the European Leukemia Network (ELN)-risk classification defines AML with mutations in RUNX1, ASXL1 or TP53 to fall in the unfavorable risk group. Consequently, the somatic molecular genetic testing at the time of initial diagnosis should encompass these before mentioned three genes next to the already routine testing of NPM1, CEBPA and FLT3-ITD. Several new innovative substances have been developed and approved for AML therapy...
September 2018: Deutsche Medizinische Wochenschrift
Shin Kiyohara, Tomohiro Miyata, Koji Tsuda, Teruyasu Mizoguchi
Spectroscopy is indispensable for determining atomic configurations, chemical bondings, and vibrational behaviours, which are crucial information for materials development. Despite their importance, the interpretation of spectra using "human-driven" methods, such as the manual comparison of experimental spectra with reference/simulated spectra, is difficult due to the explosive increase in the number of experimental spectra to be observed. To overcome the limitations of the "human-driven" approach, we develop a new "data-driven" approach based on machine learning techniques by combining the layer clustering and decision tree methods...
September 6, 2018: Scientific Reports
Tarcila Santos Datoguia, Elvira Deolinda Rodrigues Pereira Velloso, Ricardo Helman, Juliane Garcez Musacchio, Marco Aurélio Salvino, Rodolfo Almeida Soares, Marcia Higashi, Adriana Valente Fadel, Rodrigo Santucci Alves E Silva, Nelson Hamerschlak, Fabio Pires de Souza Santos, Paulo Vidal Campregher
Prognostic stratification in acute myeloid leukemia (AML) relies, mostly, on cytogenetics and molecular features of leukemic blasts. The LeukemiaNet prognostic scoring system has been proposed as a standardized way of evaluating prognosis in AML. We have analysed outcomes in 65 AML cases (median age of 54 years, range 18-82) treated at five hematology centers in Brazil stritified according to the European Leukemia Net (ELN) recommendations for cytogenetic and molecular analysis. We classified patients as favorable (N = 13), intermediate-1 (N = 25), intermediate-2 (N = 15), or adverse risk (N = 9)...
September 5, 2018: Medical Oncology
Seung-Taek Lim, Jin-Kee Park, Sang-Hyuk Park, Eun-Jae Lee, Woo-Nam Kim, Seok-Ki Min
PURPOSE: Elastin is one of the major determinants of arterial distensibility of large blood vessels that forms the principal component of elastic fibers from the media of arteries. However, the association between elastin(ELN) genotype and vascular function is still unclear. METHODS: 120women were recruited from the Saha-gu (Busan, Korea) Community Center. Measurements of body composition and vascular function included carotid intima-media thickness (CIMT), carotid artery luminal diameter (CLD), minimum (diastolic) artery luminal diameter (CLDmin) and maximum (systolic) artery luminal diameter (CLDmax)...
June 30, 2018: Journal of Exercise Nutrition & Biochemistry
R Jorritsma, I M van Geijlswijk, M Nielen
Societal concerns about antibiotic resistance prompted us to evaluate the use of prophylactic and postoperative antibiotic treatments following cesarean section (CS) and exploratory laparotomy (EL) in a surgery theater within the Farm Animal Health clinic. All procedures were performed by supervised veterinary students for training purposes. Cows undergoing CS (n = 100) received either a prophylaxis with a single 5-g injection of ampicillin-sodium i.v. only (CSL), or in combination with postoperative i.m. injections of ampicillin-trihydrate 20% for 3 d (10 mg/kg, twice a day; CSH)...
September 2018: Journal of Dairy Science
Kazuyuki Yo, Thomas M Rünger
Several features differentiate aged cells from young cells, many of which are due to changes in gene expression during the aging process. The mechanisms of altered gene expression in aging cells remain incompletely understood, and we hypothesized that long non-coding (lnc) RNAs mediate at least some of these changes. We screened for alterations in lncRNA expression with aging in skin fibroblasts and identified the lncRNA FLJ46906 to be consistently upregulated with aging in-vivo and in-vitro. The function of this lncRNA has not been known...
August 17, 2018: Aging
Armin Kraus, Daniel Sattler, Markus Wehland, Ronald Luetzenberg, Nauras Abuagela, Manfred Infanger
BACKGROUND: In obtaining human tenocytes in a sufficient number for tendon tissue engineering, low proliferation rate and phentoype loss during passaging is a problem. It was our aim to evalute the influence of VEGF on human tenocyte growth and gene expression. MATERIALS AND METHODS: Human tenocytes were obtained from surgical specimens and exposed to human VEGF in various concentrations (5ng/ml, 10ng/ml, 20ng/ml) for 5 days. Cell proliferation was counted and expression of tendon-related genes (Col1, Col3, TSC, SCX and ELN) was analyzed...
August 11, 2018: Plastic and Reconstructive Surgery
Serhii Kotov, Pierre Tremouilhac, Nicole Jung, Stefan Bräse
The Ketcher editor, available as an Open Source software package for drawing chemical structures, has been expanded to include several features that allow storage, management and application of templates, as well as the use of symbols for a planning and processing of solid phase synthesis. In addition, tools for the drawing of coordinative bonds to represent e.g. organometallic compounds were added. The editor has been implemented into an Electronic Lab Notebook (ELN) application which enables the use of the Ketcher editor for advanced operations in chemistry research...
August 13, 2018: Journal of Cheminformatics
Tsai-Der Chuang, Reiko Sakurai, Ming Gong, Omid Khorram, Virender K Rehan
Considerable epidemiological and experimental evidence supports the concept that the adult chronic lung disease (CLD), at least in part, is due to aberrations in early lung development in response to an abnormal intrauterine environment; however, the underlying molecular mechanisms remain unknown. We used a well-established rat model of maternal undernutrition (MUN) during pregnancy that results in offspring intrauterine growth restriction (IUGR) and adult CLD to test the hypothesis that excess maternal glucocorticoids in response to MUN programs offspring lung development to a CLD phenotype by altering miRNA (miR)-29 expression, which is a key miR in regulating extracellular matrix (ECM) deposition during development and injury-repair...
August 8, 2018: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
Johan A Maertens, Corrado Girmenia, Roger J Brüggemann, Rafael F Duarte, Christopher C Kibbler, Per Ljungman, Zdenek Racil, Patricia Ribaud, Monica A Slavin, Oliver A Cornely, J Peter Donnelly, Catherine Cordonnier
The European Conference on Infections in Leukaemia (ECIL) updated its guidelines on antifungal prophylaxis for adults using the grading system of IDSA. The guidelines were extended to provide recommendations for other haematological diseases besides AML and recipients of an allogeneic haematopoietic stem cell transplantation (HSCT). Posaconazole remains the drug of choice when the incidence of invasive mould diseases exceeds 8%. For patients undergoing remission-induction chemotherapy for AML and myelodysplastic syndrome (MDS), fluconazole can still offer an alternative provided it forms part of an integrated care strategy that includes screening with biomarkers and imaging...
August 1, 2018: Journal of Antimicrobial Chemotherapy
Francesca Lorentino, Myriam Labopin, Massimo Bernardi, Fabio Ciceri, Gerard Socié, Jan J Cornelissen, Jordi Esteve, Annalisa Ruggeri, Liisa Volin, Ibrahim Yacoub-Agha, Charles Craddock, Jacob Passweg, Didier Blaise, Tobias Gedde-Dahl, Monica Poiani, Nathalie Fegueux, Mohamad Mohty, Arnon Nagler
Allogeneic hematopoietic stem cell transplantation (HSCT) is the most powerful therapy preventing relapse in patients with adverse cytogenetics acute myeloid leukemia (AML) in first complete remission (CR1). In the absence of a matched related donor, potential alternatives include 10/10, 9/10 HLA-matched unrelated (UD) or haploidentical (Haplo) donors. We analyzed clinical outcomes of patients undergoing T-cell repleted Haplo (n = 74), 10/10 UD (n = 433) and 9/10 UD HSCT (n = 123) from 2007 to 2015, reported to the EBMT Registry...
July 30, 2018: American Journal of Hematology
Cindy C Shu, Margaret M Smith, Richard C Appleyard, Christopher B Little, James Melrose
The aim of this study was to determine the role of the perlecan (Hspg2) heparan sulphate (HS) side chains on cell and matrix homeostasis in tail and Achilles tendons in 3 and 12 week old Hspg2 exon 3 null HS deficient ( Hspg2 Δ3 - ∕Δ3 - ) and C57 BL/6 Wild Type (WT) mice. Perlecan has important cell regulatory and matrix organizational properties through HS mediated interactions with a range of growth factors and morphogens and with structural extracellular matrix glycoproteins which define tissue function and allow the resident cells to regulate tissue homeostasis...
2018: PeerJ
Patrizia Zappasodi, Laura Marbello, Erika Borlenghi, Monica Fumagalli, Massimo Bernardi, Nicola Fracchiolla, Valentina Mancini, Matteo Da Vià, Emanuele Ravano, Elisa Cerqui, Virginia Valeria Ferretti, Barbara Rocca, Celeste Calvello, Mario Cazzola, Carlo Castagnola, Giuseppe Rossi
Favorable acute myeloid leukemia (AML) patients (pts.) demonstrate a relatively good outcome with standard induction; thus, pts. are generally not addressed to allogeneic transplant in first remission. However, it is not clear if also in a real-life setting, the outcome is homogeneous in the different favorable molecular groups and which are the parameters significantly associated to an increased relapse risk, useful to suggest the need of an intensified approach. In order to clarify this point, we collected clinical data on consecutive unselected AML pts...
July 15, 2018: Annals of Hematology
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