keyword
MENU ▼
Read by QxMD icon Read
search

Fetal Hemoglobin

keyword
https://www.readbyqxmd.com/read/28222378/fetal-hemoglobin-is-much-less-prone-to-dna-cleavage-compared-to-the-adult-protein
#1
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/the-mechanism-of-human-apohemoglobin-unfolding
#2
Premila P Samuel, William Christopher Ou, George N Phillips, John Steven Olson
Removal of heme from human hemoglobin (Hb) results in formation of an apoglobin heterodimer. Titration of this apo-dimer with 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], 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 crosslinked with a single glycine linker between the α chains (rHb0...
February 20, 2017: Biochemistry
https://www.readbyqxmd.com/read/28218758/variant-aware-saturating-mutagenesis-using-multiple-cas9-nucleases-identifies-regulatory-elements-at-trait-associated-loci
#3
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
#4
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
#5
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
#6
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...
February 9, 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
#7
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
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#8
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28166593/impact-of-rare-bleeding-disorders-during-pregnancy-on-maternal-and-fetal-outcomes-review-of-29-pregnancies-at-a-single-center
#9
Gokcen Orgul, Fatih Aktoz, M Sinan Beksac
Objective This study aims to give information about the relationship between different types of factor deficiencies and maternal/obstetric outcomes. Methods We retrospectively reviewed the medical records of eight women with factor deficiency disorders. The demographic and clinical features of the patients after their last pregnancies were registered retrospectively. Results There were 29 pregnancies among the 8 patients. The spontaneous abortion rate was relatively high in two patients with factor XIII deficiency (80% and 57...
February 6, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28164322/reference-ranges-of-placental-volume-measured-by-virtual-organ-computer-aided-analysis-between-10-and-14-weeks-of-gestation
#10
Daranee Meengeonthong, Suchaya Luewan, Supatra Sirichotiyakul, Theera Tongsong
OBJECTIVE: To establish the reference ranges of the placental volume between 10 and 14 weeks of gestation of Thai fetuses. METHODS: The placental volumes were acquired in normal pregnancies between 10 and 14 weeks of gestation using transabdominal three-dimensional ultrasound. The placental volume was then analyzed using VOCAL (virtual organ computer-aided analysis) technique with a rotation angle of 30°. The measured values were regressed to identify the best-fit model...
February 6, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28160732/the-association-between-four-snps-rs7482144-rs4671393-rs28384513-and-rs4895441-and-fetal-hemoglobin-levels-in-chinese-zhuang-%C3%AE-thalassemia-intermedia-patients
#11
Yunli Lai, Lin Zhou, Sheng Yi, Yun Chen, Yanqing Tang, Shang Yi, Ze Yang, Hongwei Wei, Chenguang Zheng, Sheng He
Four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) associated with HbF levels have been identified in different populations worldwide. To explore whether these SNPs modulate HbF expression in Chinese Zhuang population, 436 Chinese Zhuang β-thalassemia intermedia (β-TI) patients were divided into high HbF level group (mean HbF=25.5%, n=218) and low group (mean HbF=6.51%, n=218) for genotyping using PCR-HRM method. Results demonstrated that there was a significantly higher minor allele frequency (MAF=34...
January 25, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28147377/case-report-acute-flair-of-ulcerative-colitis-during-pregnancy-is-still-a-major-problem
#12
Marijana Protic, Srdjan Markovic, Dino Tarabar
Although severe flare of ulcerative colitis (UC) is uncommon, it significantly increases the risk of preterm delivery, low birth weight and other adverse fetal outcomes. It is critical to optimize aggressive medical treatment with both mother and fetal health. Here, we present a case of a 30-year-old woman with a severe flare of UC at the 16th gestational week. The diagnosis of extensive UC was established 8 years ago. From the time she was diagnosed, she had 5 moderate flares successfully treated with oral and topical mesalamine...
2017: Digestive Diseases
https://www.readbyqxmd.com/read/28122314/does-current-cefazolin-dosing-achieve-adequate-tissue-and-blood-concentrations-in-obese-women-undergoing-cesarean-section
#13
Jessica J F Kram, Danielle M Greer, Omar Cabrera, Robert Burlage, Marie M Forgie, Danish S Siddiqui
BACKGROUND: Prophylactic administration of antibiotics preceding cesarean delivery is the most effective measure taken for preventing postpartum infection. While obese women are at greater risk for infection than non-obese women, evidence-based recommendations for modifying dosing in these women are limited. OBJECTIVES: The purpose of this study was to determine whether obese women undergoing cesarean delivery similarly reach adequate cefazolin concentrations within tissue and blood when weighing <120kg and dosed 2g versus weighing ≥120kg and dosed 3g...
January 19, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28116772/clinical-phenotypes-and-the-biological-parameters-of-congolese-patients-suffering-from-sickle-cell-anemia-a%C3%A2-first%C3%A2-report-from-central-africa
#14
Tite M Mikobi, Prosper Lukusa Tshilobo, Michel N Aloni, Pierre Z Akilimali, Georges Mvumbi-Lelo, Jean Marie Mbuyi-Muamba
BACKGROUND: The influence of phenotype on the clinical course and laboratory features of sickle cell anemia (SCA) is rarely described in sub-Saharan Africa. METHODS: A cross-sectional study was conducted in Kinshasa. A clinical phenotype score was built up. The following definitions were applied: asymptomatic clinical phenotype (ACP; score≤5), moderate clinical phenotype (MCP; score between 6 and 15), and severe clinical phenotype (SCP; score≥16). ANOVA test were used to compare differences among categorical variables...
January 23, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28111279/a-comprehensive-ethnically-diverse-library-of-sickle-cell-disease-specific-induced-pluripotent-stem-cells
#15
Seonmi Park, Andreia Gianotti-Sommer, Francisco Javier Molina-Estevez, Kim Vanuytsel, Nick Skvir, Amy Leung, Sarah S Rozelle, Elmutaz Mohammed Shaikho, Isabelle Weir, Zhihua Jiang, Hong-Yuan Luo, David H K Chui, Maria Stella Figueiredo, Abdulraham Alsultan, Amein Al-Ali, Paola Sebastiani, Martin H Steinberg, Gustavo Mostoslavsky, George J Murphy
Sickle cell anemia affects millions of people worldwide and is an emerging global health burden. As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of sickle-cell-disease-specific induced pluripotent stem cells (iPSCs) from patients of different ethnicities, β-globin gene (HBB) haplotypes, and fetal hemoglobin (HbF) levels. iPSCs stand to revolutionize the way we study human development, model disease, and perhaps eventually, treat patients...
January 18, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28110751/novel-regulators-of-hemodynamics-in-the-pregnant-uterus
#16
N C Clark, C A Pru, J K Pru
The uterus is a highly dynamic organ, undergoing dramatic physiological changes during normal cyclicity and pregnancy. Many of these changes involve remodeling of the uterine vasculature in order to provide oxygen and nutrients to the developing embryo/fetus. Vasculogenesis, angiogenesis, vasodilation/vasoconstriction, and vascular permeability are coordinated by a vast network of autocrine, paracrine, and endocrine-signaling factors that derive from a number of cellular sources at the maternal:fetal interface, as well as from tissue outside the uterus...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/28104703/risk-factors-for-mortality-in-adult-patients-with-sickle-cell-disease-a-meta-analysis-of-studies-in-north-america-and-europe
#17
Poulami Maitra, Melissa Caughey, Laura Robinson, Payal C Desai, Susan Jones, Mehdi Nouraie, Mark T Gladwin, Alan Hinderliter, Jianwen Cai, Kenneth I Ataga
Although recent studies show an improved survival of children with sickle cell disease in the US and Europe, mortality remains high for adult patients. This study was conducted to evaluate the factors associated with mortality in adult patients following the approval of hydroxyurea. We first evaluated the association between selected variables and mortality at an academic center (UNC cohort). Data sources were then searched for publications from 1998 to June, 2016, with meta-analysis of eligible studies conducted in North America and Europe to evaluate the associations of selected variables with mortality in adult patients...
January 19, 2017: Haematologica
https://www.readbyqxmd.com/read/28053695/study-on-hydroxyurea-response-in-hemoglobinopathies-patients-using-genetic-markers-and-liquid-erythroid-cultures
#18
Serena Sclafani, Alice Pecoraro, Veronica Agrigento, Antonio Troia, Rosario Di Maggio, Massimiliano Sacco, Aurelio Maggio, Elena D'Alcamo, Rosalba Di Marzo
Increased expression of fetal hemoglobin (HbF) may ameliorate the clinical course of hemoglobinopathies. Hydroxyurea (HU) is the only inducer approved for the treatment of these diseases able to stimulate HbF production but patients' response is highly variable indicating the utility of the identification of pharmacogenomic biomarkers in order to predict pharmacological treatment efficacy. To date few studies to evaluate the role of genetic determinants in HU response have been conducted showing contradictory results...
November 2, 2016: Hematology Reports
https://www.readbyqxmd.com/read/28002522/primary-retroperitoneal-seminoma-embryology-histopathology-and-treatment-particularities
#19
Constantin Virgil Gîngu, Mihaela Mihai, Cătălin Baston, Mugurel Alexandru Crăsneanu, Alexandru Vladimir Dick, Vlad Olaru, Ioanel Sinescu
INTRODUCTION: Retroperitoneal seminoma is a very rare form of cancer, with embryological origin represented by primordial germ cells from the urogenital ridges left behind during the fetal development. Extragenital germ cell tumors can also occur in the mediastinum or the pineal gland. The aim of this paper is to outline the particularities and draw embryological, histopatological and treatment conclusions regarding extragonadal germ cell tumors. PATIENT AND METHODS: A 43-year-old patient without any additional pathology was admitted for anemia of unknown etiology...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27988357/recombinant-alpha-1-microglobulin-a-potential-treatment-for-preeclampsia
#20
REVIEW
Rolf Gunnarsson, Bo Åkerström, Stefan R Hansson, Magnus Gram
Preeclampsia is a serious pregnancy-specific condition, affecting 10 million women annually worldwide. No specific treatment is currently available. Recent studies have demonstrated abnormal production and accumulation of free fetal hemoglobin in the preeclamptic placenta, and identified subsequent leakage into the maternal circulation as an important factor in the development of preeclampsia. A recombinant version of alpha-1-microglobulin, an endogenous well-characterized heme and radical scavenger, has been developed...
December 14, 2016: Drug Discovery Today
keyword
keyword
69385
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"