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Fetal Hemoglobin

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https://www.readbyqxmd.com/read/28317612/hormonal-electrolytic-and-electrocardiographic-evaluations-in-bitches-with-eutocia-and-dystocia
#1
Carla Regina Barbieri Simões, Flávia Gardilin Vassalo, Maria Lúcia Gomes Lourenço, Fabiana Ferreira de Souza, Eunice Oba, Mateus José Sudano, Nereu Carlos Prestes
The objective of the study was to assess clinical alterations, electrocardiographic, hematological, biochemical, hemogasometric, electrolytic, and hormone plasma concentrations in bitches with eutocia and dystocia. Overall, 28 bitches (dystocia, n = 22 and eutocia, n = 6) were assessed. The evaluations were performed at 2 time points, M1 (1 hour prepartum-eutocia group and cesarean or clinical intervention-dystocia group) and M2 (postpartum-eutocia or dystocia group and anesthetic recovery-dystocia group). The main clinical finding was the hypothermia (mean: 36...
December 2016: Topics in Companion Animal Medicine
https://www.readbyqxmd.com/read/28303002/reciprocal-regulation-of-%C3%AE-globin-expression-by-exo-mirnas-relevance-to-%C3%AE-globin-silencing-in-%C3%AE-thalassemia-major
#2
Kuo-Ting Sun, Yu-Nan Huang, Kalaiselvi Palanisamy, Shih-Sheng Chang, I-Kuan Wang, Kang-Hsi Wu, Ping Chen, Ching-Tien Peng, Chi-Yuan Li
Induction of fetal hemoglobin (HbF) is a promising strategy in the treatment of β-thalassemia major (β-TM). The present study shows that plasma exosomal miRNAs (exo-miRs) are involved in γ-globin regulation. Exosomes shuttle miRNAs and mediate cell-cell communication. MiRNAs are regulators of biological processes through post-transcriptional targeting. Compared to HD (Healthy Donor), β-TM patients showed increased levels of plasma exosomes and the majority of exosomes had cellular origin from CD34+ cells...
March 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28295352/should-optimal-timing-between-two-intrauterine-transfusions-be-based-on-estimated-daily-decrease-of-hemoglobin-or-on-measurement-of-fetal-middle-cerebral-artery-peak-systolic-velocity
#3
Louise Ghesquière, Véronique Houfflin-Debarge, Hélène Behal, Capucine Coulon, Damien Subtil, Pascal Vaast, Charles Garabedian
BACKGROUND: To best predict the recurrence of fetal anemia after intrauterine transfusion (IUT), the measurement of middle cerebral artery peak systolic velocity (PSV) and the estimation of hemoglobin (Hb) daily decrease are compared. STUDY DESIGN AND METHODS: A retrospective study including 38 patients who had at least two IUTs in a context of red blood cell alloimmunization was conducted. PSV values before first, second, and third IUTs were collected and expected Hb level was calculated according to various Hb daily decrease formulas as proposed in the literature...
March 14, 2017: Transfusion
https://www.readbyqxmd.com/read/28280727/existence-of-hbf-enhancer-haplotypes-at-hbs1l-myb-intergenic-region-in-transfusion-dependent-saudi-%C3%AE-thalassemia-patients
#4
Cyril Cyrus, Chittibabu Vatte, J Francis Borgio, Abdullah Al-Rubaish, Shahanas Chathoth, Zaki A Nasserullah, Sana Al Jarrash, Ahmed Sulaiman, Hatem Qutub, Hassan Alsaleem, Alhusain J Alzahrani, Martin H Steinberg, Amein K Al Ali
Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region. This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28278506/accuracy-of-middle-cerebral-artery-doppler-assessment-between-34-and-37-weeks-in-fetuses-with-red-cell-alloimmunization
#5
Emeline Maisonneuve, Aude Jayot, Stéphanie Friszer, Vanina Castaigne, Evelyne Cynober, Françoise Pernot, Agnès Mailloux, Jean-Marie Jouannic, Anne Cortey, Bruno Carbonne
BACKGROUND: The Doppler measurement of middle cerebral artery peak systolic velocity (MCA-PSV) is considered the gold standard for the noninvasive detection of moderate to severe anemia. However, the accuracy of this test has not been evaluated so far, specifically beyond 34 weeks. OBJECTIVES: To assess the accuracy of MCA-PSV to detect moderate to severe fetal anemia and to identify risk factors associated with false-positive and false-negative MCA-PSV values after 34 weeks...
March 10, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28277912/fetal-hemoglobin-bart-s-hydrops-fetalis-pathophysiology-prenatal-diagnosis-and-possibility-of-intrauterine-treatment
#6
Phudit Jatavan, Nipon Chattipakorn, Theera Tongsong
This review aimed to comprehensively summarize current available reports regarding the ultrasound markers and biomarkers in predicting fetal Hb Bart's disease and evaluate the potential role of cardiac function assessment in a clinical practice. This review involves various methods in prenatal predicting fetal Hb Bart's disease or alpha-thalassemia major and attempts to provide valuable insights regarding the underlying mechanisms responsible for heart failure in Hb Bart's fetuses. Moreover, this information may be used to predict the cardiac function before the development of hydrops fetalis...
March 1, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28276629/improved-fetal-hemoglobin-with-mtor-inhibitor-based-immunosuppression-in-a-kidney-transplant-recipient-with-sickle-cell-disease
#7
Noémie Gaudre, Pierre Cougoul, Pablo Bartolucci, Gaëlle Dörr, Alessandra Bura-Riviere, Nassim Kamar, Arnaud Del Bello
Fetal hemoglobin induction is a key-point in the management of sickle-cell disease (SCD). Herein, we report on a kidney-transplant recipient with SCD that was treated with everolimus, a mammalian target of rapamycin inhibitor. At 10 months after initiating therapy, HbF level was dramatically increased (from 4.8% to 15%) and there was excellent tolerance to treatment. This article is protected by copyright. All rights reserved.
March 9, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28270982/ultrasound-guided-spectral-photoacoustic-imaging-of-hemoglobin-oxygenation-during-development
#8
Carolyn L Bayer, Bogdan J Wlodarczyk, Richard H Finnell, Stanislav Y Emelianov
Few technologies are capable of imaging in vivo function during development. In this study, we have implemented spectral photoacoustic imaging to estimate tissue oxygenation longitudinally in pregnant mice. We used the spectral photoacoustic signal to estimate hemoglobin oxygen saturation within intact, in vivo mouse concepti from developmental day (E) 8.5 to E16.5-a first step towards functional imaging of the maternal-fetal environment. Future work will apply these methods to compare longitudinal functional changes during normal vs abnormal development of embryos, fetuses, and placentas...
February 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28270345/clinical-and-laboratory-profile-of-patients-with-sickle-cell-anemia
#9
Phelipe Gabriel Dos Santos Sant'Ana, Ariane Moreira Araujo, Cynthia Teixeira Pimenta, Mário Lúcio Pacheco Ker Bezerra, Sílvio Pereira Borges Junior, Viviana Martins Neto, Janaina Sousa Dias, Aline de Freitas Lopes, Danyelle Romana Alves Rios, Melina de Barros Pinheiro
OBJECTIVE: This study aimed to describe and analyze clinical and laboratory characteristics of patients with sickle cell anemia treated at the Hemominas Foundation, in Divinópolis, Brazil. Furthermore, this study aimed to compare the clinical and laboratory outcomes of the group of patients treated with hydroxyurea with those patients that were not treated with hydroxyurea. METHODS: Clinical and laboratorial data were obtained by analyzing medical records of patients with sickle cell anemia...
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28267201/a-case-of-anti-rd-causing-fetal-anemia
#10
Stefan Rauch, Jochen Ritgen, Matthias Wißkirchen, Ursula Bauerfeind, Elisabeth Kohne, Christof Weinstock
BACKGROUND: Rd (SC4) is a low-frequency antigen of the Scianna blood group system. Only very few reports on anti-Rd in pregnancy exist. Mild to moderate hemolytic disease of the newborn caused by anti-Rd has been reported. This report may add further information on the clinical significance of anti-Rd for the fetus. CASE REPORT: In a case of severe fetal anemia (hemoglobin concentration, 3.0 g/dL) repeated intrauterine transfusions were required. The strongly positive direct antiglobulin test (DAT) of the fetal red blood cells led to the diagnosis of hemolytic disease...
March 7, 2017: Transfusion
https://www.readbyqxmd.com/read/28264611/prevalence-and-diagnostic-accuracy-of-doppler-ultrasound-of-placenta-accreta-in-egypt
#11
Ahmed M Maged, Emad Salah, Hany Saad, Hadeer Meshaal, Ashraf Eldaly, Maha A Katta, Wesam S Deeb
OBJECTIVE: To assess the prevalence of placenta accreta among those with placenta implanted over CS scar and to evaluate the accuracy of Doppler ultrasound in diagnosis. METHODS: A cross sectional study included 100 patients with placenta previa anterior with at least one previous CS. Ultrasound and color Doppler was done to all participants and correlated with operative findings. RESULTS: There was a significant difference between accrete and non accrete group regarding maternal age (32...
March 6, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28256058/sex-and-age-discrepancy-of-hemoglobin-a1c-and-fetal-hemoglobin-by-hplc-in-a-large-chinese-han-population
#12
Jihong Hu, Jun Gao, Jianbo Li
BACKGROUND: Glycosylate Hemoglobin A1c (HbA1c) is an effective indicator to evaluate glycemic control. Fetal hemoglobin (HbF) is seldom been measured because traditional detection is inconvenient. In this regard, HbA1c analyzer may provide an advantage using high-pressure liquid chromatography (HPLC) automatically for HbF. The aim of this investigation was to explore HbA1c and HbF distribution features in a large Chinese Han population. METHODS: A total of 70553 laboratorial samples were collected from January 2012 to June 2016...
March 2, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28237127/-prevalence-and-risk-factors-for-sickle-retinopathy-in-a-sub-saharan-comprehensive-sickle-cell-center
#13
A K Dembélé, B A Toure, Y S Sarro, A Guindo, B Fané, L Offredo, S Kené, I Conaré, O Tessougué, Y Traoré, Y Badiaga, M B Sidibé, D Diabaté, M Coulibaly, M Kanta, B Ranque, D A Diallo
INTRODUCTION: Retinopathy is a chronic complication with severe functional consequences in patients with sickle cell disease. Its prevalence is not well known in sub-Saharan Africa because of the absence of screening. We report here the results of a routine screening for sickle retinopathy in a Comprehensive Sickle Cell Center in Sub-Saharan Africa. METHODS: Screening of sickle retinopathy was carried out in all sickle cell patients aged 10 and over, followed between 2010 and 2012...
February 22, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28222378/fetal-hemoglobin-is-much-less-prone-to-dna-cleavage-compared-to-the-adult-protein
#14
Sandeep Chakane, Tiago Matos, Karin Kettisen, Leif Bulow
Hemoglobin (Hb) is well protected inside the red blood cells (RBCs). Upon hemolysis and when free in circulation, Hb can be involved in a range of radical generating reactions and may thereby attack several different biomolecules. In this study, we have examined the potential damaging effects of cell-free Hb on plasmid DNA (pDNA). Hb induced cleavage of supercoiled pDNA (sc pDNA) which was proportional to the concentration of Hb applied. Almost 70% of sc pDNA was converted to open circular or linear DNA using 10µM of Hb in 12h...
February 12, 2017: Redox Biology
https://www.readbyqxmd.com/read/28218841/mechanism-of-human-apohemoglobin-unfolding
#15
Premila P Samuel, William C Ou, George N Phillips, John S Olson
Removal of heme from human hemoglobin (Hb) results in formation of an apoglobin heterodimer. Titration of this apodimer with guanidine hydrochloride (GdnHCl) leads to biphasic unfolding curves indicating two distinct steps. Initially, the heme pocket unfolds and generates a dimeric intermediate in which ∼50% of the original helicity is lost, but the α1β1 interface is still intact. At higher GdnHCl concentrations, this intermediate dissociates into unfolded monomers. This structural interpretation was verified by comparing GdnHCl titrations for adult human hemoglobin A (HbA), recombinant fetal human hemoglobin (HbF), recombinant Hb cross-linked with a single glycine linker between the α chains, and recombinant Hbs with apolar heme pocket mutations that markedly stabilize native conformations in both subunits...
March 14, 2017: Biochemistry
https://www.readbyqxmd.com/read/28218758/variant-aware-saturating-mutagenesis-using-multiple-cas9-nucleases-identifies-regulatory-elements-at-trait-associated-loci
#16
Matthew C Canver, Samuel Lessard, Luca Pinello, Yuxuan Wu, Yann Ilboudo, Emily N Stern, Austen J Needleman, Frédéric Galactéros, Carlo Brugnara, Abdullah Kutlar, Colin McKenzie, Marvin Reid, Diane D Chen, Partha Pratim Das, Mitchel A Cole, Jing Zeng, Ryo Kurita, Yukio Nakamura, Guo-Cheng Yuan, Guillaume Lettre, Daniel E Bauer, Stuart H Orkin
Cas9-mediated, high-throughput, saturating in situ mutagenesis permits fine-mapping of function across genomic segments. Disease- and trait-associated variants identified in genome-wide association studies largely cluster at regulatory loci. Here we demonstrate the use of multiple designer nucleases and variant-aware library design to interrogate trait-associated regulatory DNA at high resolution. We developed a computational tool for the creation of saturating-mutagenesis libraries with single or multiple nucleases with incorporation of variants...
February 20, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28217599/glycosylated-hemoglobin-values-in-nondiabetic-pregnant-women-in-the-third-trimester-and-adverse-fetal-outcomes-an-observational-study
#17
P Shobha, Sherly Mathen, Joison Abraham
OBJECTIVE: The objective of the study is to estimate the level of glycosylated hemoglobin (HbA1c) for a safe fetal outcome and to estimate the relation between this level and various adverse fetal outcomes. Materials and. METHODOLOGY: Primigravidas who are diagnosed as not having gestational diabetes mellitus as per the glucose challenge test done at 24 weeks with a cutoff value up to 140 mg/dl are followed up at 30-34 weeks for the estimation of HbA1c in the blood and further till the time of delivery and postnatal period for the fetal outcomes...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28212192/genetic-control-of-erythropoiesis
#18
Laxminath Tumburu, Swee Lay Thein
PURPOSE OF REVIEW: The discovery of several genetic variants associated with erythroid traits and subsequent elucidation of their functional mechanisms are exemplars of the power of the new genetic and genomic technology. The present review highlights findings from recent genetic studies related to the control of erythropoiesis and dyserythropoiesis, and fetal hemoglobin, an erythroid-related trait. RECENT FINDINGS: Identification of the genetic modulators of erythropoiesis involved two approaches: genome-wide association studies (GWASs) using single nucleotide polymorphism (SNP) arrays that revealed the common genetic variants associated with erythroid phenotypes (hemoglobin, red cell count, MCV, MCH) and fetal hemoglobin; and massive parallel sequencing such as whole genome sequencing (WGS) and whole exome sequencing (WES) that led to the discovery of the rarer variants (GFI1B, SBDS, RPS19, PKLR, EPO, EPOR, KLF1, GATA1)...
February 15, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28190779/lentiviral-transfer-of-%C3%AE-globin-with-fusion-gene-nup98-hoxa10hd-expands-hematopoietic-stem-cells-and-ameliorates-murine-%C3%AE-thalassemia
#19
Hui Fen Zhao, Allistair Abraham, Yoon-Sang Kim, Yong-Dong Wang, Tamara Pestina, Jun Zhan, Keith Humphries, Arthur W Nienhuis, Derek A Persons
Recently, an engineered Homeobox-nucleoporin fusion gene, NUP98-HOXA10HD or NA10HD, was reported to expand and maintain murine hematopoietic stem cells (HSCs). We postulated that NA10HD would increase the number of human γ-globin-expressing cells to therapeutic levels. We developed a double gene lentiviral vector encoding both human γ-globin and NA10HD, which was used to transduce human peripheral blood CD34(+) cells and increased engraftment 2- to 2.5-fold at 15 weeks post-transplantation in immunodeficient mice...
March 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28186586/-analysis-of-clinical-phenotype-and-genotype-of-unstable-hemoglobin-rush
#20
Shijun Ge, Biqing Yang, Wei Yi, Kai Huang, Hongxian Liu, Xiaoqin Huang, Jiayou Chu, Zhaoqing Yang
OBJECTIVE: To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia. METHODS: Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site of (G)γ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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