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Tsewang Tashi, Sabina Swierczek, Soo Jin Kim, Mohamed E Salama, Jihyun Song, Nahla Heikal, Katherine Y King, Kim Hickman, Scott Litton, Josef T Prchal
No abstract text is available yet for this article.
February 28, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Françoise Bernaudin, Cécile Arnaud, Annie Kamdem, Isabelle Hau, Françoise Lelong, Ralph Epaud, Corinne Pondarré, Serge Pissard
Sickle cell anemia (SCA), albeit monogenic, has heterogeneous phenotypic expression, mainly related to the level of hemoglobin F (HbF). No large cohort studies have ever compared biological parameters in patients with major β-globin haplotypes; ie, Senegal (SEN), Benin (BEN), and Bantu/Central African Republic (CAR). The aim of this study was to evaluate the biological impact of α genes, β haplotypes, and glucose-6-phosphate dehydrogenase (G6PD) activity at baseline and with hydroxyurea (HU). Homozygous HbS patients from the Créteil pediatric cohort with available α-gene and β-haplotype data were included (n = 580; 301 females and 279 males) in this retrospective study...
March 27, 2018: Blood Advances
Jennifer I Lim, Dingcai Cao
PURPOSE: To determine whether the retina is thinner in sickle cell patients than in race- and age-matched controls, and if it is thinner, whether there is any association with systemic diseases. METHODS: Sickle cell and control (age- and race-matched) patients were prospectively enrolled from a university retina clinic into this observational study. Participants underwent visual acuity testing, slit-lamp biomicroscopy, dilated ophthalmoscopy, and spectral domain optical coherence tomography imaging...
March 16, 2018: American Journal of Ophthalmology
Sharon E Cox, Elizabeth A Ellins, Alphonce I Marealle, Charles R Newton, Deogratias Soka, Philip Sasi, Gian Luca Di Tanna, William Johnson, Julie Makani, Andrew M Prentice, Julian P Halcox, Fenella J Kirkham
BACKGROUND: Sickle-cell disease increases the risk of malnutrition. Low arginine and nitric oxide bioavailability are implicated in morbidity related to sickle-cell disease. Simple interventions are required, especially in low-income settings. We aimed to test the hypotheses that: (1) supplementary arginine, citrulline, and daily chloroquine increase bioavailable arginine and flow-mediated dilatation (FMD; maximal diameter change; FMDmax %), a measure of nitric oxide-dependent endothelial function; and (2) protein energy supplementation in the form of ready-to-use supplementary food (RUSF) improves the height-for-age and body-mass index-for-age Z-scores in children with sickle-cell disease...
March 13, 2018: Lancet Haematology
Motoharu Shibusawa, Jiro Tadokoro, Masaru Kojima, Makoto Kashimura
A 70-year-old man visited our emergency department, whose laboratory test results revealed leucocytosis, anaemia, thrombocytopenia and high levels of serum lactate dehydrogenase. In addition, the peripheral blood smear revealed neutrophilic granulocytes with nuclear hypolobation (pseudo-Pelger-Hüet anomaly), hypogranulation and no myeloperoxidase reactivity. Genetic testing of the peripheral blood sample was as follows: G-band, 46XY,t(9;22)(q34;q11.2) (20/20); fluorescence in situ hybridisation BCR/ABL fusion signal, 97%; and analysis of exons 5-9 of the p53 gene, mutation (Pro72Arg) in exon 4 protein...
March 15, 2018: BMJ Case Reports
Murat Bozdag, Fabrizio Carta, Andrea Angeli, Sameh M Osman, Fatmah A S Alasmary, Zeid AlOthman, Claudiu T Supuran
A series of N'-phenyl-N-hydroxyureas has been prepared by reacting hydroxylamine with aromatic isocyanates. These compounds were investigated as inhibitors of human carbonic anhydrases (hCAs, EC, considering four physiologically relevant isoforms, the cytosolic isoforms hCA I and II, and tumor associated, transmembrane isoforms hCA IX and XII. The new compounds reported here did not inhibit the widespread cytosolic isoforms hCA I and II, but they inhibited the tumor associated isoforms with interesting potencies...
March 1, 2018: Bioorganic Chemistry
Changshin Kim, Jinmo Yang, Su-Hyun Jeong, Hayoung Kim, Geun-Hee Park, Hwa Beom Shin, MyungJa Ro, Kyoung-Yeon Kim, YoungJoon Park, Keun Pil Kim, KyuBum Kwack
DNA repair mechanisms maintain genomic integrity upon exposure to various types of DNA damage, which cause either single- or double-strand breaks in the DNA. Here, we propose a strategy for the functional study of single nucleotide polymorphisms (SNPs) in the human DNA repair genes XPD/ERCC2, RAD18, and KU70/XRCC6 and the checkpoint activation gene ATR that are essentially involved in the cell cycle and DNA damage repair. We analyzed the mutational effects of the DNA repair genes under DNA-damaging conditions, including ultraviolet irradiation and treatment with genotoxic reagents, using a Saccharomyces cerevisiae system to overcome the limitations of the human cell-based assay...
2018: PloS One
Jerry L Spivak
Polycythemia vera (PV) is the most common myeloproliferative neoplasm (MPN), the ultimate phenotype of the JAK2 V1617F mutation, the MPN with the highest incidence of thromboembolic complications, which usually occur early in the course of the disease, and the only MPN in which erythrocytosis occurs. The classical presentation of PV is characterized by erythrocytosis, leukocytosis, and thrombocytosis, often with splenomegaly and occasionally with myelofibrosis, but it can also present as isolated erythrocytosis with or without splenomegaly, isolated thrombocytosis or isolated leukocytosis, or any combination of these...
March 7, 2018: Current Treatment Options in Oncology
Jackline P Ayres-Silva, Martin H Bonamino, Maria E Gouveia, Barbara C R Monte-Mor, Diego F Coutinho, Adelmo H Daumas, Cristiana Solza, Esteban Braggio, Ilana Renault Zalcberg
The genetic events associated with transformation of myeloproliferative neoplasms (MPNs) to secondary acute myeloid leukemia (sAML), particularly in the subgroup of essential thrombocythemia (ET) patients, remain incompletely understood. Deep studies using high-throughput methods might lead to a better understanding of genetic landscape of ET patients who transformed to sAML. We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases...
2018: Frontiers in Oncology
Tiziano Barbui, Ayalew Tefferi, Alessandro M Vannucchi, Francesco Passamonti, Richard T Silver, Ronald Hoffman, Srdan Verstovsek, Ruben Mesa, Jean-Jacques Kiladjian, Rȕdiger Hehlmann, Andreas Reiter, Francisco Cervantes, Claire Harrison, Mary Frances Mc Mullin, Hans Carl Hasselbalch, Steffen Koschmieder, Monia Marchetti, Andrea Bacigalupo, Guido Finazzi, Nicolaus Kroeger, Martin Griesshammer, Gunnar Birgegard, Giovanni Barosi
This document updates the recommendations on the management of Philadelphia chromosome-negative myeloproliferative neoplasms (Ph-neg MPNs) published in 2011 by the European LeukemiaNet (ELN) consortium. Recommendations were produced by multiple-step formalized procedures of group discussion. A critical appraisal of evidence by using Grades of Recommendation, Assessment, Development and Evaluation (GRADE) methodology was performed in the areas where at least one randomized clinical trial was published. Seven randomized controlled trials provided the evidence base; earlier phase trials also informed recommendation development...
February 27, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Anar Rodriguez, Pierre Duez, Laurence Dedeken, Frédéric Cotton, Alina Ferster
BACKGROUND: Hydroxyurea (HU) reduces the severity of sickle cell disease (SCD) in children; nevertheless, its long-term safety is an important concern. This paper evaluates HU genotoxicity at dose ≤ 30 mg/kg/day after over 2 years of treatment. PROCEDURE: The study included 76 children: 32 SCD patients treated with HU, 27 SCD patients not treated with HU, and 17 unaffected children. HU patients were classified as good or poor responders according to their clinical response...
March 7, 2018: Pediatric Blood & Cancer
Marie-Laure Lalanne-Mistrih, Philippe Connes, Yann Lamarre, Nathalie Lemonne, Marie-Dominique Hardy-Dessources, Vanessa Tarer, Maryse Etienne-Julan, Dominique Mougenel, Benoît Tressières, Marc Romana
BACKGROUND: The pathophysiology of sickle cell disease (SCD) and the variability of its clinical expression remain not fully understood, whether within or between different SCD genotypes. Recent studies have reported associations between lipid levels and several SCD complications. If lipid levels have been previously described as low in sickle cell anemia (SCA), few data have been provided for sickle cell SC disease (SCC). We designed our epidemiological study to isolate lipid levels and profiles by genotype in Guadeloupian cohorts of SCA and SCC adult patients, at steady state...
March 5, 2018: Lipids in Health and Disease
Merin Kuruvilla
Hypereosinophilic syndrome (HES) is a rare disease defined by organ damage directly attributable to hypereosinophilia that is either primary (neoplastic), secondary (reactive) or idiopathic. The mainstay of therapy in idiopathic HES centers around systemic steroids, and cytoreduction with hydroxyurea and interferon-alfa in steroid refractory cases. We describe the successful treatment of recalcitrant, idiopathic cutaneous HES with reslizumab, a humanized interleukin-5 blocker.
February 26, 2018: Annals of Allergy, Asthma & Immunology
Rosario Di Maggio, Matthew M Hsieh, Xiongce Zhao, Giuseppina Calvaruso, Paolo Rigano, Disma Renda, John F Tisdale, Aurelio Maggio
In sickle cell disease (SCD), hydroxyurea (HU) treatment decreases the number of vaso-occlusive crisis (VOC) and acute chest syndrome (ACS) by increasing fetal hemoglobin (HbF). Data are lacking regarding the frequency of HU dose modification or whether sub-therapeutic doses (<15 mg/kg/day) are beneficial. We reviewed the medical records of 140 patients from 2010 to 2014. The laboratory parameters and SCD complications were compared between the first and last visits based on HU use. Fifty patients (36%) never took HU or suspended HU ("no HU" group)...
February 28, 2018: International Journal of Molecular Sciences
Graham R Serjeant, Nicki Chin, Monika R Asnani, Beryl E Serjeant, Karlene P Mason, Ian R Hambleton, Jennifer M Knight-Madden
Globally, the majority of persons born with sickle cell disease do not have access to hydroxyurea or more expensive interventions. The objectives were to estimate the survival in homozygous sickle cell disease, unbiased by symptomatic selection and to ascertain the causes of death in a pre-hydroxyurea population. The utility of early life biomarkers and genetically determined phenotypes to predict survival was assessed. A cohort study based on neonatal diagnosis was undertaken at the Sickle Cell Unit, a specialist clinic delivering care to persons with sickle cell disease in Jamaica...
2018: PloS One
Sarah Hintermair, Elisabeth Zwickl-Traxler, Martin Pecherstorfer, Josef Singer
Myeloproliferative neoplasms (MPN), classified as polycythemia vera (PV), essential thrombocytosis (ET) and myelofibrosis (MF) are stem-cell derived disorders. Mutations in either the januskinase-2 (JAK-2) or the calreticulin (CALR) gene are characteristic for MPN and may result in enhanced proliferation of red blood cells, white blood cells and platelets, and thus increase the risk for vascular events. This study is a retrospective and descriptive analysis of records of patients, who underwent treatment for myeloproliferative syndromes at the Department of Hemato-Oncology of the University hospital Krems from 2008 to the end of 2015...
February 2, 2018: Oncotarget
Toshia R Myers, Pier Giorgio Amendola, Yvonne C Lussi, Anna Elisabetta Salcini
Post-translational modifications of histones, constitutive components of chromatin, regulate chromatin compaction and control all DNA-based cellular processes. C. elegans JMJD-1.2, a member of the KDM7 family, is a demethylase active towards several lysine residues on Histone 3 (H3), but its contribution in regulating histone methylation in germ cells has not been fully investigated. Here, we show that jmjd-1.2 is expressed abundantly in the germline where it controls the level of histone 3 lysine 9, lysine 23 and lysine 27 di-methylation (H3K9/K23/K27me2) both in mitotic and meiotic cells...
February 28, 2018: Scientific Reports
O Kos, C Alexander, K Brandenburg, Z Chen, A Heini, D Heumann, I Khatri, J P Mach, E T Rietschel, A Tersikh, A J Ulmer, T Waelli, K Yu, U Zähringer, R M Gorczynski
We have shown that an altered tissue redox environment in mice lacking either murine beta Hemoglobin major (Hgbβma KO) or minor (Hgbβmi KO) regulates inflammation. The REDOX environment in marrow stem cell niches also control differentiation pathways. We investigated osteoclastogenesis (OC)/osteoblastogenesis (OB), in bone cultures derived from untreated or FSLE-treated WT, Hgbβma KO or Hgbβmi KO mice. Marrow mesenchymal cells from 10d pre-cultures were incubated on an osteogenic matrix for 21d prior to analysis of inflammatory cytokine release into culture supernatants, and relative OC:OB using (TRAP:BSP, RANKL:OPG) mRNA expression ratios and TRAP or Von Kossa staining...
February 22, 2018: International Immunopharmacology
Serdal Korkmaz
Hyperleukocytosis is defined as a white blood cell count greater than 100.000/μL in patients affected by acute or chronic leukemias. Hyperleukocytosis is more common in acute leukemias than in chronic leukemias. Risk factors include younger age, acute myeloid leukemia, the microgranular variant of acute promyelocytic leukemia, acute lymphoblastic leukemia and some cytogenetic abnormalities. Although it can affect any organ system, symptoms usually arise from involvement of the cerebral, pulmonary and renal microvasculature...
February 20, 2018: Transfusion and Apheresis Science
Morgan L Trepte, Jessica J Auten, Stephen M Clark, Hendrik W van Deventer
Hyperleukocytosis occurs in 15-20% of all newly diagnosed acute myeloid leukemia patients and requires emergent treatment with leukapheresis or hydroxyurea when accompanied by signs or symptoms of leukostasis. Currently, there is no standardized hydroxyurea dosing strategy, although usual dosing ranges from 50 to 150 mg/kg/day, and prescribing patterns vary significantly among oncologists and institutions. In addition to other hematologic and dermatologic toxicities, the use of hydroxyurea may be associated with significant mucositis and mucositis-related pain...
January 1, 2018: Journal of Oncology Pharmacy Practice
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