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https://www.readbyqxmd.com/read/29300242/klf1-e325k-associated-congenital-dyserythropoietic-anemia-type-iv-insights-into-the-variable-clinical-severity
#1
Yaddanapudi Ravindranath, Robert M Johnson, Gerard Goyette, Steven Buck, Manisha Gadgeel, Patrick G Gallagher
We identified a child with KLF1-E325K congenital dyserythropoietic anemia type IV who experienced a severe clinical course, fetal anemia, hydrops fetalis, and postnatal transfusion dependence only partially responsive to splenectomy. The child also had complete sex reversal, the cause which remains undetermined. To gain insights into our patient's severe hematologic phenotype, detailed analyses were performed. Erythrocytes from the patient and parents demonstrated functional abnormalities of the erythrocyte membrane, attributed to variants in the α-spectrin gene...
January 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29296743/hmga2-collaborates-with-jak2v617f-in-the-development-of-myeloproliferative-neoplasms
#2
Koki Ueda, Kazuhiko Ikeda, Takayuki Ikezoe, Kayo Harada-Shirado, Kazuei Ogawa, Yuko Hashimoto, Takahiro Sano, Hiroshi Ohkawara, Satoshi Kimura, Akiko Shichishima-Nakamura, Yuichi Nakamura, Yayoi Shikama, Tsutomu Mori, Philip J Mason, Monica Bessler, Soji Morishita, Norio Komatsu, Kotaro Shide, Kazuya Shimoda, Shuhei Koide, Kazumasa Aoyama, Motohiko Oshima, Atsushi Iwama, Yasuchika Takeishi
High-mobility group AT-hook 2 (HMGA2) is crucial for the self-renewal of fetal hematopoietic stem cells (HSCs) but is downregulated in adult HSCs via repression by MIRlet-7 and the polycomb-recessive complex 2 (PRC2) including EZH2. The HMGA2 messenger RNA (mRNA) level is often elevated in patients with myelofibrosis that exhibits an advanced myeloproliferative neoplasm (MPN) subtype, and deletion of Ezh2 promotes the progression of severe myelofibrosis in JAK2V617F mice with upregulation of several oncogenes such as Hmga2...
June 27, 2017: Blood Advances
https://www.readbyqxmd.com/read/29280474/anemia-in-pregnancy-a-pragmatic-approach
#3
Dongmei Sun, Anne McLeod, Shital Gandhi, Ann Kinga Malinowski, Nadine Shehata
Importance: Anemia is common in pregnancy, ranging from 5.4% in developed countries to more than 80% in developing countries. Anemia in pregnancy has been associated with prematurity, low birth weight, and adverse pregnancy outcomes. Objective: This review uses clinical vignettes to illustrate the clinical presentations, approach to diagnosis, maternal and fetal implications, and treatment for the common etiologies of anemia in pregnancy. Evidence Acquisition: Literature review...
December 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29278628/perinatal-complications-in-two-cohort-groups-of-preterm-newborns-in-intensive-care-unit-for-children-s-diseases-of-university-clinical-hospital-mostar
#4
Vedran Bjelanović, Marjana Jerković Raguž, Matea Galić, Ana Čuljak, Ivana Bjelanović, Vajdana Tomić
AIM: To determine the frequency and type of complications in two cohort groups of preterm newborns. SUBJECTS AND METHODS: The research involved 100 preterm newborns divided into two groups according to their gestational age: newborns from 24 to 33+6/7 weeks GA and newborns from 34 to 36+6/7 weeks GA. Parameters which were observed with mother were: age, number of births, course and complications in pregnancy. Parameters with infant: gestational age, weight, newborn small for gestational age (IUGR), asphyxia, respiratory distress syndrome, sepsis, hyperbilirubinemia, apnea, anemia, intracranial hemorrhage and metabolic disorder (hypoglycaemia, hypocalcaemia)...
December 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/29262476/-short-stature-optic-nerve-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-antibody-immunodeficiency-and-aplastic-anemia-a-case-report-and-literature-review
#5
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29251202/cd15-as-a-marker-of-fetoplacental-endothelial-immaturity-in-iugr-placentas
#6
Gayatri Ravikumar, Julian Crasta, Jyothi S Prabhu, Tinku Thomas, Pratibha Dwarkanath, Annamma Thomas, Anura V Kurpad, Tirumalai Srinivas Sridhar
BACKGROUND: Structural or functional defects in the placenta, are the primary cause of growth restriction of the fetus. Morphological examination of such placentas from intrauterine growth restricted (IUGR) fetuses often appears deceptively normal. Evaluation of angiogenesis and fetoplacental vasculature is critical to understand the underlying pathogenesis of fetal growth restriction in both idiopathic as well as cases where it is thought to be secondary to complications like preeclampsia (PE)...
December 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29250791/successful-management-of-severe-red-blood-cell-alloimmunization-in-pregnancy-with-a-combination-of-therapeutic-plasma-exchange-intravenous-immune-globulin-and-intrauterine-transfusion
#7
Laura C Nwogu, Kenneth J Moise, Kimberly L Klein, Hlaing Tint, Brian Castillo, Yu Bai
BACKGROUND: Antibodies to Rhesus and Kell antigens have been associated with severe hemolytic disease of the fetus and newborn (HDFN) necessitating intrauterine transfusion (IUT) of red blood cells (RBCs). We report a case series of five women with severe HDFN secondary to maternal RBC alloimmunization who were successfully managed with therapeutic plasma exchange (TPE), intravenous immune globulin (IVIG), and IUT. STUDY DESIGN AND METHODS: This is a retrospective case series of five women with severe HDFN who underwent a total of three TPE procedures during Weeks 10 to 13 of pregnancy, followed by weekly IVIG infusions...
December 17, 2017: Transfusion
https://www.readbyqxmd.com/read/29241929/fertility-outcomes-following-pelvic-embolization-in-women-with-acquired-uterine-arteriovenous-malformation
#8
Cheng-Yu Ho, Kok-Min Seow, Lee-Wen Huang, Yieh-Loong Tsai
OBJECTIVE: Acquired uterine arteriovenous malformation (UAVM) is a rare, life-threatening disease. Angiography with uterine arterial embolization (UAE) is the diagnostic tool and a choice of fertility-sparing treatment. Here, we present a series of five successful pregnancies after embolization of UAVM. CASE REPORTS: Three reproductive aged women were treated for UAVM, resulting in five successful pregnancies. Their past history suggested that three cases had had previous uterine procedures, including second trimester abortion and elective dilatation and curettage...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29240037/fetal-anemia-causing-hydrops-fetalis-from-an-alpha-globin-variant-homozygous-hemoglobin-constant-spring
#9
Patcharee Komvilaisak, Ratana Komvilaisak, Arunee Jetsrisuparb, Surapon Wiangnon, Junya Jirapradittha, Pakaphan Kiatchoosakun, Goonapa Fucharoen
BACKGROUND: Fetal anemia is often assumed to be due to red cell alloimmunization and Parvovirus infection, and can lead to hydrops fetalis and death in utero. Other causes, such as mutations of hemoglobin alpha, are less commonly considered. METHODS: We report 7 cases with fetal anemia causing hydrops fetalis. Serial Doppler ultrasound for measurement peak systolic velocity (PSV) of middle cerebral artery (MCA) was used for evaluation of fetal anemia. Fetal anemia is suggested if the MCA/PSV ratio is >1...
December 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29239949/labor-analgesia-as-a-predictor-for-reduced-postpartum-depression-scores-a-retrospective-observational-study
#10
Grace Lim, Lia M Farrell, Francesca L Facco, Michael S Gold, Ajay D Wasan
BACKGROUND: Using labor, epidural analgesia has been linked to a reduced risk of postpartum depression, but the role of labor pain relief in this association remains unclear. The goal of this study was to test the hypothesis that effective epidural analgesia during labor is associated with reduced postpartum depression symptomatology. METHODS: A single, institutional, retrospective, observational cohort design was chosen. The primary outcome was Edinburgh postnatal depression scale (EPDS) score, measured at the 6-week postpartum visit...
December 11, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29237307/oligohydramnios-is-an-independent-risk-factor-for-perinatal-morbidity-among-women-with-preeclampsia-who-delivered-preterm
#11
Alex Rabinovich, Keren Holtzman, Ilana Shoham-Vardi, Moshe Mazor, Offer Erez
PURPOSE: Determine the relationship between oligohydramnios and adverse maternal and neonatal outcomes in a unique cohort of preterm preeclamptic patients. MATERIALS AND METHODS: A retrospective matched case control study comparing 81 preterm parturients (28 0/7 and 36 6/7 weeks) with preeclampsia and oligohydramnios to 81 preterm preeclamptic patients with a normal amniotic fluid index (AFI). RESULTS: 4.8 percent of all our preterm preeclamptic patients had oligohydramnios...
December 13, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29234502/nuchal-cord-and-its-implications
#12
REVIEW
Morarji Peesay
Nuchal cord occurs when the umbilical cord becomes wrapped around the fetal neck 360 degrees. Nuchal cords occur in about 10-29% of fetuses and the incidence increases with advancing gestation age. Most are not associated with perinatal morbidity and mortality, but a few studies have shown that nuchal cord can affect the outcome of delivery with possible long-term effects on the infants. Nuchal cords are more likely to cause problems when the cord is tightly wrapped around the neck, with effects of a tight nuchal cord conceptually similar to strangulation...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/29234149/effect-of-maternal-iron-deficiency-anemia-on-fetal-neural-development
#13
Sriparna Basu, Dinesh Kumar, Shampa Anupurba, Ashish Verma, Ashok Kumar
OBJECTIVE: Perinatal iron deficiency may have deleterious consequences on fetal neural development. The present study was conducted to determine the effect of maternal iron deficiency anemia (IDA) on fetal hippocampal morphogenesis and production of brain-derived neurotrophic factor (BDNF). STUDY DESIGN: Seventy term, singleton neonates born to mothers with IDA (hemoglobin <110g/L and serum ferritin <12 μg/L) formed the study group. Twenty gestational age-matched neonates born to healthy mothers without IDA (hemoglobin ≥110 g/L and serum ferritin >12 μg/L) served as controls...
December 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29230002/deficiency-in-interferon-type-1-receptor-improves-definitive-erythropoiesis-in-klf1-null-mice
#14
Maria Francesca Manchinu, Carla Brancia, Cristian Antonio Caria, Ester Musu, Susanna Porcu, Michela Simbula, Isadora Asunis, Lucia Perseu, Maria Serafina Ristaldi
A key regulatory gene in definitive erythropoiesis is the transcription factor Krüppel-like factor 1 (Klf1). Klf1 null mice die in utero by day 15.5 (E15.5) due to impaired definitive erythropoiesis and severe anemia. Definitive erythropoiesis takes place in erythroblastic islands in mammals. Erythroblastic islands are formed by a central macrophage (Central Macrophage of Erythroblastic Island, CMEI) surrounded by maturating erythroblasts. Interferon-β (IFN-β) is activated in the fetal liver's CMEI of Klf1 null mice...
December 11, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29227711/diffuse-chorangiomatosis-as-a-cause-of-cardiomegaly-microangiopathic-hemolytic-anemia-and-thrombocytopenia-in-a-newborn
#15
Shreyas Arya, Vidit Bhargava, Joan Richardson, Hal K Hawkins
INTRODUCTION: The hallmark of diffuse chorangiomatosis is capillary dysvasculogenesis, diffusely involving the placenta. It can cause massive placental enlargement and may have adverse fetal effects. CASE REPORT: A 32 weeks gestation male infant was born via cesarean section and had a placenta weighing 900 g. There was diffuse vascular proliferation involving the stem villi and intermediate villi. Short Nucleotide Polymorphism (SNP) microarray analysis of the placenta showed no biparental mosaicism or loss of heterozygosity, ruling out placental mesenchymal dysplasia...
December 11, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29200155/a-case-of-congenital-dyserythropoeitic-anemia-type-iv-caused-by-e325k-mutation-in-erythroid-transcription-factor-klf1
#16
Rebecca Ortolano, Melissa Forouhar, Anne Warwick, David Harper
Congenital dyserythropoetic anemias (CDA) represent a heterogeneous group of inherited red cell disorders resulting in ineffective erythropoiesis. Several CDA variants have been identified. KLF1 is a transcription factor required for cell division in erythroid differentiation and maturation, and the switch from fetal to adult hemoglobin. Mutations in KLF1 gene can result in a wide range of phenotypes. This case illustrates the E325K mutation in KLF1 presenting with severe anemia in infancy, persistently elevated fetal hemoglobin, and progressive improvement with age...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29194292/fetal-splenomegaly-a-review
#17
Marta Moreira, Rafael Brás, Daniela Gonçalves, Inês Alencoão, Gonçalo Inocêncio, Maria Rodrigues, Jorge Braga
Enlargement of the fetal spleen is usually found secondary to systemic diseases and is frequently associated with hepatomegaly. By far, the most common causes of fetal splenomegaly are infectious. Other etiologies responsible for this sign are hemolytic anemia, congestive cardiac failure, metabolic disorders, and rarely, leukemia, lymphoma, and histiocytosis.We report a case of prenatal splenomegaly diagnosed at 35 weeks, confirmed in the postnatal period. The postnatal workup showed the newborn had a familial type 3 form of hemophagocytic lymphohistiocytosis (HLH)...
November 29, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29193111/clinical-input-of-anti-d-quantitation-by-continuous-flow-analysis-on-autoanalyzer-in-the-management-of-high-titer-anti-d-maternal-alloimmunization
#18
Cécile Toly-Ndour, Haifa Mourtada, Stéphanie Huguet-Jacquot, Emeline Maisonneuve, Stéphanie Friszer, Françoise Pernot, Pauline Thomas, Jean-Marie Jouannic, Bruno Carbonne, Anne Cortey, Agnès Mailloux
BACKGROUND: In addition to titration by indirect antiglobulin test most widely used, anti-D quantitation by continuous-flow analysis (CFA) may be performed to assess severity of maternal immunization. Only five studies have reported its added value in the management of pregnancies complicated by anti-D immunization. STUDY DESIGN AND METHODS: A retrospective study of 74 severe anti-D-immunized pregnancies was conducted from January 1, 2013, to December 31, 2014, in the Trousseau Hospital in Paris (France)...
November 29, 2017: Transfusion
https://www.readbyqxmd.com/read/29187036/persistence-of-villous-immaturity-in-term-deliveries-following-intrauterine-transfusion-for-parvovirus-b19-infection-and-rhd-associated-hemolytic-disease-of-the-fetus-and-newborn
#19
Whitney A McCarthy, Edwina J Popek
Common causes of fetal anemia and hydrops include parvovirus B19 infection during the first 2 trimesters of pregnancy, as well as maternal alloimmunization to RhD with subsequent hemolytic disease of the fetus and newborn (HDFN) in an RhD positive fetus. Although both of these conditions have historically caused significant fetal morbidity and mortality, the advent of intrauterine transfusion (IUT) over the last few decades have dramatically improved outcomes. Prior literature has extensively documented placental changes associated with untreated parvovirus infection and RhD HDFN in intrauterine fetal demises and preterm births; however, histopathologic changes in term placentas from term infants treated with IUT have not been reported...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29182088/perinatal-maternal-mortality-in-sickle-cell-anemia-two-case-reports-and-review-of-the-literature
#20
Sanaa Rizk, Elizabeth D Pulte, David Axelrod, Samir K Ballas
As outcomes of patients with sickle cell anemia improve and survival into adulthood with good quality of life and expectation of long-term survival becomes more common, challenges have developed, including issues related to reproduction. Pregnancy is frequently complicated in patients with sickle cell anemia with mortality up to 4.0%. Here we report maternal perinatal mortality in two women with sickle cell anemia who died post-partum due to acute chest syndrome (ACS), caused by bone marrow fat embolism and review the literature pertinent to this subject...
November 28, 2017: Hemoglobin
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