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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
#1
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
#2
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
#3
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/28174536/exploring-the-pharmacokinetic-profile-of-remifentanil-in-mid-trimester-gestations-undergoing-fetal-intervention-procedures
#4
Judith A Smith, Roopali V Donepudi, Pedro S Argoti, Anita L Giezentanner, Ranu Jain, Noemi Boring, Elisa Garcia, Kenneth J Moise
Background: Indications for surgery during pregnancy have increased. Specifically fetal interventions have increased from conditions that were considered lethal like twin-twin transfusion syndrome and severe fetal anemia to non-lethal conditions like myelomeningocele. The optimal anesthetic agent for in utero surgery is yet to be determined. Success of the procedure is often dictated by the efficacy of the anesthetic to immobilize the fetus without over-sedating mom. Remifentanil is used as preferred agent due to its short half-life however pharmacokinetics in pregnancy is unknown...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28147377/case-report-acute-flair-of-ulcerative-colitis-during-pregnancy-is-still-a-major-problem
#5
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/28140723/placenta-previa-and-maternal-hemorrhagic-morbidity
#6
Karen J Gibbins, Brett D Einerson, Michael W Varner, Robert M Silver
OBJECTIVE: Placenta previa is associated with maternal hemorrhage, but most literature focuses on morbidity in the setting of placenta accreta. We aim to characterize maternal morbidity associated with previa and to define risk factors for hemorrhage. METHODS: This is a secondary cohort analysis of the NICHD Maternal-Fetal Medicine Units Network Cesarean Section Registry. This analysis included all women undergoing primary Cesarean delivery without placenta accreta...
January 31, 2017: Journal of Maternal-fetal & Neonatal Medicine
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
#7
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/28114741/loss-of-the-transforming-growth-factor-%C3%AE-effector-%C3%AE-2-spectrin-promotes-genomic-instability
#8
Jian Chen, Vivek Shukla, Patrizia Farci, Jaclyn Andricovich, Wilma Jogunoori, Lawrence N Kwong, Lior H Katz, Kirti Shetty, Asif Rashid, Xiaoping Su, Jon White, Lei Li, Alan Yaoqi Wang, Boris Blechacz, Gottumukkala S Raju, Marta Davila, Bao-Ngoc Nguyen, John R Stroehlein, Junjie Chen, Sang Soo Kim, Heather Levin, Keigo Machida, Hidekazu Tsukamoto, Peter Michaely, Alexandros Tzatsos, Bibhuti Mishra, Richard Amdur, Lopa Mishra
: Exposure to genotoxins such as ethanol-derived acetaldehyde leads to DNA damage and liver injury and promotes the development of cancer. We report here a major role for the transforming growth factor β/mothers against decapentaplegic homolog 3 adaptor β2-Spectrin (β2SP, gene Sptbn1) in maintaining genomic stability following alcohol-induced DNA damage. β2SP supports DNA repair through β2SP-dependent activation of Fanconi anemia complementation group D2 (Fancd2), a core component of the Fanconi anemia complex...
February 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28111279/a-comprehensive-ethnically-diverse-library-of-sickle-cell-disease-specific-induced-pluripotent-stem-cells
#9
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/28101432/atypical-hemolytic-uremic-syndrome-in-first-trimester-pregnancy-successfully-treated-with-eculizumab
#10
Gabriela Andries, Michael Karass, Srikanth Yandrapalli, Katherine Linder, Delong Liu, John Nelson, Rahul Pawar, Savneek Chugh
BACKGROUND: Atypical hemolytic uremic syndrome is a rare disorder which is known to cause acute thrombotic microangiopathy during pregnancy with poor maternal and fetal outcomes. Atypical hemolytic uremic syndrome is caused mostly by dysregulation of alternative complement pathway secondary to genetic mutations. Most of the cases reported have been in the post-partum period. We report a rare case of a patient who presents with thrombotic microangiopathy in the first trimester of her eleventh pregnancy and was successfully treated with eculizumab...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28098879/cytokines-inducers-and-inhibitors-modulate-mmp-2-and-mmp%C3%A2-9-secretion-by-human-fanconi-anemia-immortalized-fibroblasts
#11
M W Roomi, T Kalinovsky, M Rath, A Niedzwiecki
Acute myeloid leukemia and head and neck squamous cell carcinomas are the major causes of mortality and morbidity in Fanconi anemia (FA) patients. Matrix metalloproteinases (MMPs), particularly MMP-2 and MMP-9, have been implicated in tumor invasion and metastasis. Various cytokines, mitogens, growth factors, inducers and inhibitors control MMP activities. We investigated the roles of these in the regulation of MMP-2 and MMP-9 in human immortalized fibroblasts from FA. Human FA immortalized fibroblast cell lines FA-A:PD220 and FA-D2:PD20 were grown in minimum essential medium (MEM) supplemented with 15% fetal bovine serum (FBS) and antibiotics in 24-well tissue culture plates...
January 16, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#12
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28034892/how-i-treat-anemia-in-pregnancy-iron-cobalamin-and-folate
#13
Maureen M Achebe, Anat Gafter-Gvili
Anemia of pregnancy is considered a global health problem, affecting almost 50% of pregnant women. Anemia is an important risk factor for both fetal and maternal morbidity. The purpose of this article is to discuss diagnosis and management of the most frequent causes of anemia in pregnancy: iron, cobalamin and folate deficiencies. This paper considers three clinical cases. Iron deficiency is the most common cause. The laboratory tests that define iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficient neonates and the literature addressing the efficacy and safety of intravenous iron in pregnancy are reviewed...
December 29, 2016: Blood
https://www.readbyqxmd.com/read/28031963/folic-acid-supplementation-what-is-new-fetal-obstetric-long-term-benefits-and-risks
#14
REVIEW
Hind N Moussa, Susan Hosseini Nasab, Ziad A Haidar, Sean C Blackwell, Baha M Sibai
The association between folic acid supplementation, prior to conception and/or during pregnancy and pregnancy outcomes, has been the subject of numerous studies. The worldwide recommendation of folic acid is at least 0.4 mg daily for all women of reproductive age, and 4-5 mg in high-risk women. In addition, evidence shows that folic acid supplementation could modulate other adverse pregnancy outcomes, specifically, in pregnancies complicated by seizure disorders, preeclampsia, anemia, fetal growth restriction and autism...
June 2016: Future Science OA
https://www.readbyqxmd.com/read/28002522/primary-retroperitoneal-seminoma-embryology-histopathology-and-treatment-particularities
#15
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/27998308/semilobar-holoprosencephaly-in-a-12-month-old-baby-boy-born-to-a-primigravida-patient-with-type-1-diabetes-mellitus-a-case-report
#16
Pedro Pallangyo, Frederick Lyimo, Paulina Nicholaus, Hilda Makungu, Maria Mtolera, Isaac Mawenya
BACKGROUND: Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations...
December 20, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27994991/dynamics-of-a-pregnancy-when-two-become-four-a-case-report-and-literature-review
#17
Murid Javed, Nareman Altorairi, Hamad Alsufyan
The incidence of pregnancies with multiple gestational sacs has increased with the use of assisted reproductive technology because more than one embryo is frequently transferred. The splitting of one or more embryos further complicates the pregnancy. Some of these complications include intrauterine fetal death, growth restriction, discordant birth weight, and preterm delivery. Monozygotic twins suffer from a few unique complications including twin-twin transfusion syndrome, twin reversed arterial perfusion sequence, and twin anemia-polycythemia sequence...
November 11, 2016: Curēus
https://www.readbyqxmd.com/read/27956203/syphilis-during-pregnancy-a-preventable-threat-to-maternal-fetal-health
#18
REVIEW
Martha W F Rac, Paula A Revell, Catherine S Eppes
Syphilis remains the most common congenital infection worldwide and has tremendous consequences for the mother and her developing fetus if left untreated. Recently, there has been an increase in the number of congenital syphilis cases in the United States. Thus, recognition and appropriate treatment of reproductive-age women must be a priority. Testing should be performed at initiation of prenatal care and twice during the third trimester in high-risk patients. There are 2 diagnostic algorithms available and physicians should be aware of which algorithm is utilized by their testing laboratory...
December 9, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27934616/pregnancy-and-cirrhosis-four-cases-at-the-lome-campus-university-teaching-hospital-togo
#19
A Bagny, D A E Akolly, L M Lawson-Ananisoh, O Bouglouga, B Douaguibe, R El Hadji Yacoubou, S Koffi, K Lawson Evi, K M Guedenon, Y D Atakouma, K Akpadza, D Redah
To evaluate the hepatic and obstetric complications in pregnant women with cirrhosis. We report the cases of four pregnant women with cirrhosis treated in the gastroenterology and obstetrics-gynecology departments of the Lome Campus University Teaching Hospital between 2013 and 2015. The women's mean age was 32 years. Three were in the first trimester of pregnancy. Almost all had signs of advanced cirrhosis, including ascites (50%), lower-limb edema (75%), and jaundice (25%). All (100%) had liver failure and anemia...
December 8, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/27915139/impairment-of-fetal-hematopoietic-stem-cell-function-in-the-absence-of-fancd2
#20
Sakiko Suzuki, Ronny R Racine, Nathan A Manalo, Sharon B Cantor, Glen D Raffel
Fanconi anemia (FA) results from mutations in the genes necessary for DNA damage repair and often leads to progressive bone marrow failure. Although the exhaustion of the bone marrow leads to cytopenias in FA patients as they age, evidence from human FA and mouse model fetal livers suggests that hematopoietic defects originate in utero, which may lead to deficient seeding of the bone marrow. To address this possibility, we examined the consequences of loss of Fancd2, a central component of the FA pathway. Examination of embryonic day 14...
December 1, 2016: Experimental Hematology
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