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https://www.readbyqxmd.com/read/28929945/innovative-pcr-without-dna-extraction-for-african-sickle-cell-disease-diagnosis
#1
L Detemmerman, S Olivier, V Bours, F Boemer
OBJECTIVES: Hemoglobin (Hb) disorders consist of thalassemia and Hb structural variants, of which the major forms are associated with severe anemia and/or vascular occlusion. Current diagnostic techniques are highly accurate and mostly based on isoelectric focusing, high-performance liquid chromatography or mass spectrometry, which often require advanced laboratory equipment. In sub-Saharan Africa, the Hb disorders are mainly associated to the pathological variants hemoglobin S (HbS) and HbC...
September 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28913922/a-clinically-meaningful-fetal-hemoglobin-threshold-for-children-with-sickle-cell-anemia-during-hydroxyurea-therapy
#2
Jeremie H Estepp, Matthew P Smeltzer, Guolian Kang, Chen Li, Winfred C Wang, Christina Abrams, Banu Aygun, Russell E Ware, Kerri Nottage, Jane S Hankins
Hydroxyurea has proven clinical benefits and is recommended to be offered to all children with sickle cell anemia (SCA), but the optimal dosing regimen remains controversial. Induction of red blood cell fetal hemoglobin (HbF) by hydroxyurea appears to be dose-dependent. However, it is unknown whether maximizing HbF% improves clinical outcomes. HUSTLE (NCT00305175) is a prospective observational study with a primary goal of describing the long-term clinical effects of hydroxyurea escalated to maximal tolerated dose (MTD) in children with SCA...
September 14, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28901454/%C3%AE-%C3%A2-thalassemia-caused-by-compound-heterozygous-mutations-and-cured-by-bone-marrow-transplantation-a-case-report
#3
Liusong Wu, Zhiyu Peng, Sen Lu, Mei Tan, Ying Rong, Runmei Tian, Yuhang Yang, Yan Chen, Jindong Chen
In the present study, a rare familial case of severe thalassemia with compound spontaneous mutations is reported. A 2.5‑year‑old boy, who suffered from severe anemia with yellowish skin, enlarged liver and spleen, was provided with a blood transfusion every 20 days to maintain hemoglobin levels between 90 and 100 g/l. Sanger sequencing combined with reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR) and Gap‑PCR revealed that the proband was a carrier of 4 compound heterozygous mutations: Hemoglobin subunit β (HBB):IVS‑II‑654(C>T)β+; Southeast Asian‑type‑hereditary persistence of fetal hemoglobin (SEA‑HPFH); HBB:c316‑148G>T; hemoglobin subunit α2 (HBA2):c...
September 12, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28893687/genetic-analysis-of-id1-dbl2x-predicts-its-validity-as-a-vaccine-candidate-in-colombia-and-supports-at-least-two-independently-introduced-plasmodium-falciparum-populations-in-the-region
#4
J Rajwani, C M Klinger, E Arango, M I Arroyo, A Sabbagh, A Maestre, J B Dacks, S Gnidehou, S K Yanow
Pregnancy-associated malaria (PAM) poses a threat to both the mother and fetus, increasing the risk of severe maternal anemia, fetal growth restriction and low birth weight infants. Two vaccines are currently in development to protect women from Plasmodium falciparum in pregnancy. Both vaccine constructs target the ID1-DBL2Xb domain of VAR2CSA, a protein expressed on the surface of infected erythrocytes (IEs) that mediates parasite sequestration in the placenta. Although development of an effective vaccine may be hampered by ID1-DBL2Xb polymorphisms expressed by field isolates, a recent study showed that genetic variation of this domain in South American parasite populations is much lower than in other geographical locations...
September 8, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28891254/fetal-isovolumetric-time-intervals-as-a-marker-of-abnormal-cardiac-function-in-fetal-anemia-from-homozygous-alpha-thalassemia-1-disease
#5
Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
OBJECTIVE: To determine whether fetal isovolumetric time intervals can be an early sonographic marker of fetal anemia in fetuses with homozygous alpha thalassemia-1. METHODS: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited before cordocentesis for hemoglobin typing. Isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT) intervals were measured by placing pulsed wave Doppler sample volume within the left ventricle to obtain the mitral and aortic waveform...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28880867/oral-tetrahydrouridine-and-decitabine-for-non-cytotoxic-epigenetic-gene-regulation-in-sickle-cell-disease-a-randomized-phase-1-study
#6
RANDOMIZED CONTROLLED TRIAL
Robert Molokie, Donald Lavelle, Michel Gowhari, Michael Pacini, Lani Krauz, Johara Hassan, Vinzon Ibanez, Maria A Ruiz, Kwok Peng Ng, Philip Woost, Tomas Radivoyevitch, Daisy Pacelli, Sherry Fada, Matthew Rump, Matthew Hsieh, John F Tisdale, James Jacobberger, Mitch Phelps, James Douglas Engel, Santhosh Saraf, Lewis L Hsu, Victor Gordeuk, Joseph DeSimone, Yogen Saunthararajah
BACKGROUND: Sickle cell disease (SCD), a congenital hemolytic anemia that exacts terrible global morbidity and mortality, is driven by polymerization of mutated sickle hemoglobin (HbS) in red blood cells (RBCs). Fetal hemoglobin (HbF) interferes with this polymerization, but HbF is epigenetically silenced from infancy onward by DNA methyltransferase 1 (DNMT1). METHODS AND FINDINGS: To pharmacologically re-induce HbF by DNMT1 inhibition, this first-in-human clinical trial (NCT01685515) combined 2 small molecules-decitabine to deplete DNMT1 and tetrahydrouridine (THU) to inhibit cytidine deaminase (CDA), the enzyme that otherwise rapidly deaminates/inactivates decitabine, severely limiting its half-life, tissue distribution, and oral bioavailability...
September 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28872664/middle-cerebral-artery-doppler-reference-centile-charts-for-the-prediction-of-fetal-anemia-in-a-population-from-india
#7
Manisha Kumar, Tarul Umrawal, Anuradha Singh
OBJECTIVE: To construct reference charts for the fetal middle cerebral artery (MCA) peak systolic velocity (PSV) and the corresponding cord blood hemoglobin values at 24-40 weeks of pregnancy for the identification of fetal anemia. METHODS: In a cross-sectional study, 300 women with a pregnancy duration of 24-40 weeks planned for delivery within 72 hours underwent a Doppler study of the MCA and cord blood hemoglobin estimation at delivery. Regression analysis was used to construct reference charts...
September 5, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28846072/mice-expressing-krasg12d-in-hematopoietic-multipotent-progenitor-cells-develop-neonatal-myeloid-leukemia
#8
Stefan P Tarnawsky, Rebecca J Chan, Mervin C Yoder
Juvenile myelomonocytic leukemia (JMML) is a pediatric myeloproliferative neoplasm that bears distinct characteristics associated with abnormal fetal development. JMML has been extensively modeled in mice expressing the oncogenic KrasG12D mutation. However, these models have struggled to recapitulate the defining features of JMML due to in utero lethality, nonhematopoietic expression, and the pervasive emergence of T cell acute lymphoblastic leukemia. Here, we have developed a model of JMML using mice that express KrasG12D in multipotent progenitor cells (Flt3Cre+ KrasG12D mice)...
August 28, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28801981/pregnancy-outcomes-in-mothers-of-offspring-with-inherited-bone-marrow-failure-syndromes
#9
Neelam Giri, Helen D Reed, Pamela Stratton, Sharon A Savage, Blanche P Alter
BACKGROUND: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". METHODS: We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28800727/a-phased-snp-based-classification-of-sickle-cell-anemia-hbb-haplotypes
#10
Elmutaz M Shaikho, John J Farrell, Abdulrahman Alsultan, Hatem Qutub, Amein K Al-Ali, Maria Stella Figueiredo, David H K Chui, Lindsay A Farrer, George J Murphy, Gustavo Mostoslavsky, Paola Sebastiani, Martin H Steinberg
BACKGROUND: Sickle cell anemia causes severe complications and premature death. Five common β-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphisms (RFLPs) to detect single nucleotide polymorphisms (SNPs) in the β-globin gene cluster. This is labor intensive, and error prone...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28796996/call-for-caution-neonatal-portal-vein-thrombosis-following-enbucrilate-embolization-of-placental-chorioangioma
#11
Hian Yan Voon, Rafaie Amin, Juan Loong Kok, Kia Sing Tan
We illustrate a case of giant placental chorioangioma presenting at 20 weeks of gestation. Subsequent monitoring revealed enlargement of the lesion, associated with fetal anemia and cardiac failure, prompting in utero intervention. Amnioreduction followed by percutaneous embolization of the tumour with enbucrilate:Lipiodol Ultra-Fluid™ at a dilution of 1:5 was successfully performed. No repeat intervention or additional supportive measures were required throughout pregnancy and the baby was delivered at 36 weeks of gestation, following spontaneous labour...
August 11, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28783617/an-age-dependent-response-to-hydroxyurea-in-pediatric-sickle-cell-anemia-patients-with-alpha-thalassemia-trait
#12
Lisa Figueiredo, Kerry Morrone, Catherine Wei, Karen Ireland, Hillel W Cohen, Catherine Driscoll, Deepa Manwani
Hydroxyurea (HU) is a key drug therapy for individuals with sickle cell anemia (SCA), yet its clinical and hematologic responses can be variable. Various studies have reported the role of α-thalassemia as one of the most prevalent heritable traits that may modify HU response. We provide data from 62 pediatric and adolescent patients with SCA, 26 with co-inherited α-thalassemia trait. Our data suggest that altered hematologic and clinical responses to HU therapy are noted in adolescent SCA individuals with co-inherited α-thalassemia trait...
July 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28782230/fetal-anemia
#13
EDITORIAL
N Abbasi, J-A Johnson, G Ryan
No abstract text is available yet for this article.
August 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28759962/effects-of-hydroxyurea-on-blood-rheology-in-sickle-cell-anemia-a-two-years-follow-up-study
#14
Nathalie Lemonne, Berenike Möckesch, Keyne Charlot, Yohann Garnier, Xavier Waltz, Yann Lamarre, Sophie Antoine-Jonville, Maryse Etienne-Julan, Marie-Dominique Hardy-Dessources, Marc Romana, Philippe Connes
The aim of the present study was to test the effects of hydroxyurea (HU) therapy on clinical, hematological and hemorheological parameters in adult patients with sickle cell anemia (SCA). Hematological and hemorheological parameters were measured in 28 SCA patients before HU therapy (i.e., baseline) and at 6, 12 and 24 months of treatment. RBC deformability was determined by ektacytometry at 30 Pa. RBC aggregation properties were investigated by light-backscatter method. Blood viscosity was measured at 225 s-1 by a cone-plate viscometer...
July 25, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28747161/factors-associated-with-perinatal-mortality-among-public-health-deliveries-in-addis-ababa-ethiopia-an-unmatched-case-control-study
#15
Yemisrach Getiye, Mesganaw Fantahun
BACKGROUND: perinatal mortality is the sum of still birth (fetal death) and early neonatal death (ENND) i.e. death of live newborn before the age of 7 completed days. Perinatal mortality accounts three fourth of the deaths of the neonatal period and is one of the major challenges for under-five mortality. Therefore this study was conducted to better understand the common and avoidable factors that affect perinatal mortality in Addis Ababa, Ethiopia. METHODS: An unmatched case control study design using secondary data as a source of information was conducted...
July 26, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28743859/let-7-microrna-dependent-control-of-leukotriene-signaling-regulates-the-transition-of-hematopoietic-niche-in-mice
#16
Xuan Jiang, John S Hawkins, Jerry Lee, Carlos O Lizama, Frank L Bos, Joan P Zape, Prajakta Ghatpande, Yongbo Peng, Justin Louie, Giorgio Lagna, Ann C Zovein, Akiko Hata
Hematopoietic stem and progenitor cells arise from the vascular endothelium of the dorsal aorta and subsequently switch niche to the fetal liver through unknown mechanisms. Here we report that vascular endothelium-specific deletion of mouse Drosha (Drosha (cKO)), an enzyme essential for microRNA biogenesis, leads to anemia and death. A similar number of hematopoietic stem and progenitor cells emerge from Drosha-deficient and control vascular endothelium, but Drosha (cKO)-derived hematopoietic stem and progenitor cells accumulate in the dorsal aorta and fail to colonize the fetal liver...
July 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28739199/results-of-the-first-american-prospective-study-of-intravenous-iron-in-oral-iron-intolerant-iron-deficient-gravidas
#17
Michael Auerbach, Stephanie E James, Melissa Nicoletti, Steven Lenowitz, Nicola London, Huzefa F Bahrain, Richard Derman, Samuel Smith
BACKGROUND: Anemia affects up to 42% of gravidas. Neonatal iron deficiency is associated with low birth weight, delayed growth and development, and increased cognitive and behavioral abnormalities. While oral iron is convenient, up to 70% report significant gastrointestinal toxicity. Intravenous iron formulations allowing replacement in one visit with favorable side-effect profiles decrease rates of anemia with improved hemoglobin responses and maternal fetal outcomes. METHODS: Seventy-four oral iron-intolerant, second- and third-trimester iron-deficient gravidas were questioned for oral iron intolerance and treated with intravenous iron...
July 21, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28736939/fetal-hemoglobin-in-sickle-cell-anemia-the-arab-indian-haplotype-and-new-therapeutic-agents
#18
REVIEW
Alawi H Habara, Elmutaz M Shaikho, Martin H Steinberg
Fetal hemoglobin (HbF) has well-known tempering effects on the symptoms of sickle cell disease and its levels vary among patients with different haplotypes of the sickle hemoglobin gene. Compared with sickle cell anemia haplotypes found in patients of African descent, HbF levels in Saudi and Indian patients with the Arab-Indian (AI) haplotype exceed that in any other haplotype by nearly twofold. Genetic association studies have identified some loci associated with high HbF in the AI haplotype but these observations require functional confirmation...
July 24, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28728448/pregnancy-and-child-health-outcomes-in-pediatric-and-young-adult-leukemia-and-lymphoma-survivors-a-systematic-review
#19
Ksenya Shliakhtsitsava, Sally A D Romero, Samantha Rose Dewald, H Irene Su
As long-term survival is high for children and young adults diagnosed with leukemia and lymphoma, delineating maternal, fetal and offspring health risks is important to their family planning. This systematic review examined data comparing these health risks between leukemia and lymphoma survivors and women without a history of cancer. Following a search of Embase, PubMed, CINAHL, Cochrane, and Web of Science, 142 articles were screened and 18 were included in this review. No higher risks of spontaneous abortion, maternal diabetes and anemia, stillbirth, birth defects, or childhood cancer in offspring were observed in survivors compared to controls...
July 21, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28700372/immunohistochemical-demonstration-of-parvovirus-b19-viral-protein-2-in-periflexural-exanthema-in-an-adult-supporting-antibody-dependent-enhancement-as-means-of-endothelial-uptake-of-the-virus
#20
Carlos Santonja, Úrsula Pielasinski, Jorge Polo, Heinz Kutzner, Luis Requena
Human parvovirus B19 (B19V) causes a number of skin exanthemas and has been related to both cutaneous and systemic diseases. Tropism of the virus for the rapidly proliferating erythroid progenitor cells in the bone marrow and fetal liver explains the pathogenesis of anemia and fetal hydrops. The cutaneous lesions of erythema infectiosum and other B19V-related exanthemas have been attributed to the deposition of immune complexes in the skin. We report on the immunohistochemical detection of B19V protein in the cytoplasm of dermal endothelial cells in a case of periflexural exanthema in a 28-year-old woman...
July 6, 2017: American Journal of Dermatopathology
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