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https://www.readbyqxmd.com/read/29138844/the-%C3%A2-%C3%AE-3-7-deletion-in-%C3%AE-%C3%A2-globin-genes-increases-the-concentration-of-fetal-hemoglobin-and-hemoglobin-a2-in-a-saudi-arabian-population
#1
J Francis Borgio, Sayed Abdulazeez, Noor B Almandil, Zaki A Naserullah, Sana Al-Jarrash, Ahmed M Al-Suliman, Huda Ismail Elfakharay, Fuad S Qaw, Fatimah I Alabdrabalnabi, Mohammed A Alkhalifah, Mohammed Shakil Akhtar, Hatem Qutub, Amein K Al-Ali
The regions of Al‑Qatif and Al‑Ahssa in the Eastern Province of Saudi Arabia are known for their high prevalence of hemoglobinopathies, including β‑thalassemia and sickle cell anemia. Previously, the α‑gene deletion has been demonstrated as highly prevalent among populations residing in these two regions. The present study was conducted in order to investigate the implications of the α‑globin gene deletion on fetal hemoglobin (HbF) and hemoglobin α2 (HbA2) concentrations in patients with transfusion‑dependent β‑thalassemia...
November 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29124822/advanced-cell-culture-models-for-diamond-blackfan-anemia-and-other-erythroid-disorders
#2
REVIEW
Anna Rita Migliaccio, Lilian Varricchio
In vitro surrogate models of human erythropoiesis made many contributions to our understanding of the extrinsic and intrinsic regulation of this process in vivo and how they are altered in erythroid disorders. In the past, variability among the levels of hemoglobin F produced by adult erythroblasts generated in vitro by different laboratories identified stage of maturation, fetal bovine serum and accessory cells as "confounding factors", i.e. parameters intrinsically wired in the experimental approach that bias the results observed...
November 10, 2017: Stem Cells
https://www.readbyqxmd.com/read/29122542/twin-twin-transfusion-syndrome-what-we-have-learned-from-clinical-trials
#3
REVIEW
Fatiha Djaafri, Julien Stirnemann, Imen Mediouni, Claire Colmant, Yves Ville
Monochorionic twin pregnancies are at increased risk for adverse outcome compared to dichorionic twin pregnancies and singletons. Monochorionic-specific complications include twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence, single intrauterine fetal demise and its consequences on the co-twin, and selective intrauterine growth restriction. Whereas the natural history of monochorionic-specific complications carries a high risk of fetal death or severe neurologic disability, a framework now exists, based on well-designed clinical trials, for optimal treatment of these entities...
November 6, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29107441/real-life-experience-with-hydroxyurea-in-sickle-cell-disease-a-multicenter-study-in-a-cohort-of-patients-with-heterogeneous-descent
#4
Paolo Rigano, Lucia De Franceschi, Laura Sainati, Antonio Piga, Frédéric B Piel, Maria Domenica Cappellini, Carmelo Fidone, Nicoletta Masera, Giovanni Palazzi, Barbara Gianesin, Gian Luca Forni
We conducted the first nation-wide cohort study of sickle cell disease (SCD) in Italy, a Southern European country exposed to intense recent flux migration from endemic areas for SCD. We evaluate the impact of hydroxyurea on a total of 652 pediatric and adult patients from 33 Reference Centers for SCD (mean age 24.5±15years, 51.4% males). Hydroxyurea median treatment duration was 7years (range: <1year to 29years) at a mean therapeutic dose of 18±4.7mg/kg/day. Hydroxyurea was associated with a significant increase in mean total and fetal hemoglobin and a significant decrease in mean hemoglobin S, white blood and platelet counts, and lactate dehydrogenase levels...
October 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29096233/parvovirus-b19-infection-in-pregnancy-awareness-and-opportunities
#5
REVIEW
Francesca Bonvicini, Gloria Bua, Giorgio Gallinella
Parvovirus B19 (B19V) is a human pathogenic virus associated with a wide range of clinical conditions. In pregnancy, B19V poses a potential hazard to the fetus as crossing the placental barrier and infecting erythroid progenitor cells in bone marrow and liver, it blocks fetal erythropoiesis leading to profound anemia, hydrops and/or fetal death. The virus is not regarded as a teratogen, however more scientific awareness is emerging on mechanisms and consequences of intrauterine infection and possible sequelae in the neonatal development...
October 26, 2017: Current Opinion in Virology
https://www.readbyqxmd.com/read/29079125/hereditary-persistence-of-hemoglobin-f-is-protective-against-red-cell-sickling-a-case-report-and-brief-review
#6
Alexandra Sokolova, Anton Mararenko, Alexander Rozin, Alida Podrumar, Vladimir Gotlieb
Fetal hemoglobin (HbF) is a physiologic protein tetramer that is crucial for a developing fetus to survive in utero. Maternal hemoglobin has a relatively lower affinity for oxygen, and thus allows for an efficient transfer of oxygen from maternal to fetal blood. In addition to fulfilling a critical physiologic role, HbF is also known to alleviate symptoms of sickle-cell disease (SCD). The concentration of HbF depends on several factors. HbF is elevated in inherited conditions, such as hereditary persistence of HbF, hereditary spherocytosis, and thalassemia...
October 16, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/29075543/undetected-severe-fetal-myelosuppression-following-administration-of-high-dose-cytarabine-for-acute-myeloid-leukemia-is-more-frequent-surveillance-necessary
#7
Jessica Parrott, Marium Holland
BACKGROUND: Cytarabine use during pregnancy carries a 5-7% risk of neonatal cytopenia. We report two cases of fetal myelosuppression following high-dose cytarabine administration for acute myeloid leukemia (AML). CASE 1: A 36-year-old G9P6 diagnosed with AML at 21 weeks was monitored for fetal anemia weekly and growth monthly. At 33 weeks (after 2 cycles), BPP was 2/10 and MCA PSV was elevated at 1.51 MoM. Urgent cesarean section was performed. The infant had an initial pH of 6...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29075500/prevalence-and-determinants-of-anemia-among-pregnant-women-in-ethiopia-a-systematic-review-and-meta-analysis
#8
Getachew Mullu Kassa, Achenef Asmamaw Muche, Abadi Kidanemariam Berhe, Gedefaw Abeje Fekadu
BACKGROUND: Anemia during pregnancy is one of the most common indirect obstetric cause of maternal mortality in developing countries. It is responsible for poor maternal and fetal outcomes. A limited number of studies were conducted on anemia during pregnancy in Ethiopia, and they present inconsistent findings. Therefore, this review was undertaken to summarize the findings conducted in several parts of the country and present the national level of anemia among pregnant women in Ethiopia...
2017: BMC Hematology
https://www.readbyqxmd.com/read/29058125/imported-malaria-in-pregnant-women-report-from-a-french-university-centre
#9
M Develoux, G Le Loup, B Lafon-Desmurs, D Magne, G Belkadi, E Daray, G Pialoux, C Hennequin
OBJECTIVE: To describe malaria during pregnancy outside endemic areas. MATERIALS AND METHODS: We retrospectively reviewed all cases of imported malaria during pregnancy, diagnosed over a 11-year period in a French hospital. RESULTS AND CONCLUSION: We recovered 18 cases, all from sub-Saharan countries. The infection could appear distantly from arrival in France (up to 36 months), was asymptomatic in 3 cases, with anemia being the most common marker of infection (n = 14)...
October 20, 2017: Infection
https://www.readbyqxmd.com/read/29051184/novel-use-of-hydroxyurea-in-an-african-region-with-malaria-noharm-a-trial-for-children-with-sickle-cell-anemia
#10
Robert O Opoka, Christopher M Ndugwa, Teresa S Latham, Adam Lane, Heather A Hume, Phillip Kasirye, James S Hodges, Russell E Ware, Chandy C John
Hydroxyurea treatment is recommended for children with sickle cell anemia (SCA) living in high-resource malaria-free regions, but its safety and efficacy in malaria-endemic sub-Saharan Africa, where the greatest sickle cell burden exists, remain unknown. In vitro studies suggest hydroxyurea could increase malaria severity, and hydroxyurea-associated neutropenia could worsen infections. NOHARM was a randomized, double-blinded, placebo-controlled trial conducted in malaria-endemic Uganda, comparing hydroxyurea to placebo at 20 ± 2...
October 19, 2017: Blood
https://www.readbyqxmd.com/read/29046485/dimethyl-fumarate-increases-fetal-hemoglobin-provides-heme-detoxification-and-corrects-anemia-in-sickle-cell-disease
#11
Sriram Krishnamoorthy, Betty Pace, Dipti Gupta, Sarah Sturtevant, Biaoru Li, Levi Makala, Julia Brittain, Nancy Moore, Benjamin F Vieira, Timothy Thullen, Ivan Stone, Huo Li, William E Hobbs, David R Light
Sickle cell disease (SCD) results from a point mutation in the β-globin gene forming hemoglobin S (HbS), which polymerizes in deoxygenated erythrocytes, triggering recurrent painful vaso-occlusive crises and chronic hemolytic anemia. Reactivation of fetal Hb (HbF) expression ameliorates these symptoms of SCD. Nuclear factor (erythroid derived-2)-like 2 (Nrf2) is a transcription factor that triggers cytoprotective and antioxidant pathways to limit oxidative damage and inflammation and increases HbF synthesis in CD34+ stem cell-derived erythroid progenitors...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29037549/long-term-outcome-of-pregnancy-complicating-with-severe-aplastic-anemia-under-supportive-care
#12
Kuan-Ju Chen, Yao-Lung Chang, Horng Chang, Shen-Yuan Su, Hsiu-Huei Peng, Shuenn-Dyh Chang, An-Shine Chao
OBJECTIVES: Pregnancy associated with aplastic anemia (AA) is a rare and heterogeneous disorder. We aimed to identify and evaluate the maternal and pregnant outcomes of pregnancy-associated severe AA treated with supportive care. MATERIALS AND METHODS: A 25-year retrospective study was conducted at in a single center between 1990 and 2014 with pregnancy associated severe AA. In addition, relevant published cases of antenatally diagnosed pregnancy-associated severe AA after 1990 were identified by PubMed...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28969994/central-sensitization-associated-with-low-fetal-hemoglobin-levels-in-adults-with-sickle-cell-anemia
#13
Deepika S Darbari, Kathleen J Vaughan, Katherine Roskom, Cassie Seamon, Lena Diaw, Meghan Quinn, Anna Conrey, Alan N Schechter, Jennifer A Haythornthwaite, Myron A Waclawiw, Gwenyth R Wallen, Inna Belfer, James G Taylor
BACKGROUND AND AIMS: Pain is the hallmark of sickle cell anemia (SCA), presenting as recurrent acute events or chronic pain. Central sensitization, or enhanced excitability of the central nervous system, alters pain processing and contributes to the maintenance of chronic pain. Individuals with SCA demonstrate enhanced sensitivity to painful stimuli however central mechanisms of pain have not been fully explored. We hypothesized that adults with SCA would show evidence of central sensitization as observed in other diseases of chronic pain...
September 29, 2017: Scandinavian Journal of Pain
https://www.readbyqxmd.com/read/28969512/placental-histopathology-differences-and-neonatal-outcome-in-dichorionic-diamniotic-as-compared-to-monochorionic-diamniotic-twin-pregnancies
#14
Eran Weiner, Elad Barber, Ohad Feldstein, Ann Dekalo, Letizia Schreiber, Jacob Bar, Michal Kovo
OBJECTIVE: We aimed to compare the differences in placental histopathology lesions and pregnancy outcome in dichorionic-diamniotic (DCDA) versus uncomplicated monochorionic-diamniotic (MCDA) twin gestations. STUDY DESIGN: Maternal characteristics, neonatal outcome, and placental histopathology reports of all twin deliveries between 24 and 41 weeks were reviewed. Excluded were pregnancies complicated by twin-to-twin transfusion syndrome, twin anemia-polycythemia sequence, selective intrauterine growth restriction, placenta previa, intrauterine fetal death, and malformation...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28967599/-trauma-and-pregnancy-is-the-kleihauer-betke-test-really-useful
#15
M Girard, F Marchand, R Uch, F Bretelle
OBJECTIVE: To evaluate the pertinence of Kleihauer-Betke (KB) test, in case of abdominal trauma during pregnancy in forecast of fetal outcomes, according to trauma severity. METHODS: A single-center retrospective study conducted between January 2014 and April 2016 in a maternity type III and a trauma center, which included the pregnant women admitted for abdominal trauma. The trauma's severity was assessed using the guidelines of the Society of Obstetricians and Gynaecologists of Canada...
September 26, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28956137/deleterious-impact-of-maternal-hepatitis-c-viral-infection-on-maternal-and-fetal-outcome-a-5-year-prospective-study
#16
Mohamed Rezk, Zein Omar
OBJECTIVE: To assess prospectively the maternal and fetal outcome among pregnant women with chronic Hepatitis-C virus (HCV) infection compared to normal control group. METHODS: A prospective observational study conducted on 342 pregnant women with HCV who were divided into two groups according to polymerase chain reaction (PCR) result, group 1 (n = 184, HCV-PCR negative) and group 2 (n = 154, HCV-PCR positive) with a third group of normal pregnant women (n = 170)...
December 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28950778/first-report-of-a-novel-deletion-due-to-%C3%AE%C2%B5%C3%AE-%C3%AE-%C3%AE-thalassemia-in-a-chinese-family
#17
Annie S Y Hui, Patrick K C Au, Yuen-Ha Ting, Anita S Y Kan, Yvonne K Y Cheng, Alex W K Leung, Kelvin Y K Chan, Chi-Kong Li, Mary H Y Tang, Tak-Yeung Leung
A fetus of Chinese descent presented with ultrasound features of anemia at 20 weeks' gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex gap-polymerase chain reaction (gap-PCR) excluded common α-thalassemia (α-thal) deletions and mutations and PCR sequencing of the α1- and α2-globin genes were negative. The fetus had a normal karyotype. Array comparative genomic hybridization (aCGH) showed a single copy loss of 189.87 kb in chromosome 11p15.4, involving the whole β-globin gene cluster, inherited from the father...
May 2017: Hemoglobin
https://www.readbyqxmd.com/read/28948639/time-interval-measurements-of-the-ductus-venosus-during-the-early-second-trimester-of-pregnancy-reference-ranges-and-clinical-application
#18
Manaphat Suksai, Chitkasaem Suwanrath, Ounjai Kor-Anantakul, Alan Geater
OBJECTIVES: The aims of this study were to construct reference ranges for the time interval parameters of the ductus venosus during the early second trimester of pregnancy and to demonstrate the clinical utility in various fetal disorders. METHODS: The ductus venosus Doppler measurements of 331 healthy fetuses between 15 and 22 weeks' gestation were analyzed. The systolic time and diastolic time were subdivided into the systolic acceleration time, systolic deceleration time, diastolic acceleration time, and diastolic deceleration time...
September 26, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28941328/inducing-indel-mutation-in-the-sox6-gene-by-zinc-finger-nuclease-for-gamma-reactivation-an-approach-towards-gene-therapy-of-beta-thalassemia
#19
Mehran Modares, Laleh Shariati, Zahra Hejazi, Mansoureh Shahbazi, Mohammad Amin Tabatabaiefar, Hossein Khanahmad
β-thalassemia is a common autosomal recessive disorder characterized by a deficiency in the synthesis of β-chains.Evidences show that increased HbF levels improve the symptoms in patients with β-thalassemia or sickle cell anemia. In this study, ZFN technology was applied to induce a mutation in the binding domain region of SOX6 to reactivate γ-globin expression. The sequences coding for ZFP arrays were designed and sub cloned in TDH plus as a transfer vector. The ZFN expression was confirmed using Western blot analysis...
September 23, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28932402/comparative-study-of-sickle-cell-anemia-and-hemoglobin-sc-disease-clinical-characterization-laboratory-biomarkers-and-genetic-profiles
#20
Milena Magalhães Aleluia, Teresa Cristina Cardoso Fonseca, Regiana Quinto Souza, Fábia Idalina Neves, Caroline Conceição da Guarda, Rayra Pereira Santiago, Bruna Laís Almeida Cunha, Camylla Villas Boas Figueiredo, Sânzio Silva Santana, Silvana Sousa da Paz, Júnia Raquel Dutra Ferreira, Bruno Antônio Veloso Cerqueira, Marilda de Souza Gonçalves
BACKGROUND: In this study, we evaluate the association of different clinical profiles, laboratory and genetic biomarkers in patients with sickle cell anemia (SCA) and hemoglobin SC disease (HbSC) in attempt to characterize the sickle cell disease (SCD) genotypes. METHODS: We conducted a cross-sectional study from 2013 to 2014 in 200 SCD individuals (141 with SCA; 59 with HbSC) and analyzed demographic data to characterize the study population. In addition, we determined the association of hematological, biochemical and genetic markers including the β(S)-globin gene haplotypes and the 3...
2017: BMC Hematology
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