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Macrocytic anemia

Jing-Ying Zhang, Ming Jia, Hai-Zhao Zhao, Ze-Bin Luo, Wei-Qun Xu, He-Ping Shen, Yong-Min Tang
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Ribosomal protein S19 (RPS19) is identified as the first gene associated with DBA. RPS19 is mutated in 25% of DBA patients, but its role in DBA pathogenesis remains to be elucidated. We have identified a novel heterozygous frameshift mutation in RPS19 gene in a DBA child presenting with profound anemia after birth. A single nucleotide heterozygous deletion (C.251delG) results in frameshift in RPS19 gene in exon 4 at codon 84 with possible premature stop codon (p...
August 31, 2016: Blood Cells, Molecules & Diseases
Chang Ho Hwang, Dong Jin Park, Gyu Yeol Kim
A 58-year-old woman, who had undergone total gastrectomy for early gastric cancer 9 years previously, visited the outpatient clinic complaining of progressive difficulty in walking for 15 d. Laboratory examinations showed macrocytic anemia and a decreased serum vitamin B12 concentration and increased serum concentrations of folate, vitamin E and copper. Magnetic resonance imaging showed multifocal high signal intensities along the posterior column of the cervical and thoracic spinal cord. Treatment consisted of intramuscular injections of vitamin B12 for 7 d, which increased her serum level of vitamin B12 to normal...
October 7, 2016: World Journal of Gastroenterology: WJG
Petra Vašeková, Peter Szépe, Ján Marcinek, Tomáš Balhárek, Lukáš Plank
INTRODUCTION: Megaloblastic anemia (MA) represents a subtype of macrocytic anemia caused by impaired DNA synthesis, mostly due to folate and vitamin B12 deficiency. Its mildest forms lead to macrocytosis without concomitant anemia, but more severe forms to thrombocytopenia and/or leucopenia as well. In majority of the cases, the diagnosis of MA dose not represent a serious clinical problem, however, other causes of macrocytosis including myelodysplastic syndrome (MDS) must be excluded...
2016: Vnitr̆ní Lékar̆ství
Rinku Pal, Qingen Ke, German A Pihan, Ayce Yesilaltay, Marsha L Penman, Li Wang, Chandramohan Chitraju, Peter M Kang, Monty Krieger, Olivier Kocher
The HDL receptor SR-BI mediates the transfer of cholesteryl esters from HDL to cells and controls HDL abundance and structure. Depending on the genetic background, loss of SR-BI causes hypercholesterolemia, anemia, reticulocytosis, splenomegaly, thrombocytopenia, female infertility and fatal coronary heart disease (CHD). The C-terminus of SR-BI (505QEAKL509) must bind to the cytoplasmic adaptor PDZK1 for normal hepatic -but not steroidogenic cell- expression of SR-BI protein. To determine if SR-BI's C-terminus is also required for normal protein levels in steroidogenic cells, we introduced into SR-BI's gene a 507Ala/STOP mutation that produces a truncated receptor (SR-BIΔCT)...
September 30, 2016: American Journal of Physiology. Heart and Circulatory Physiology
(no author information available yet)
Sf3b1(+/K700E) mice exhibit macrocytic anemia, erythroid dysplasia, and long-term HSC expansion.
September 23, 2016: Cancer Discovery
Esther A Obeng, Ryan J Chappell, Michael Seiler, Michelle C Chen, Dean R Campagna, Paul J Schmidt, Rebekka K Schneider, Allegra M Lord, Lili Wang, Rutendo G Gambe, Marie E McConkey, Abdullah M Ali, Azra Raza, Lihua Yu, Silvia Buonamici, Peter G Smith, Ann Mullally, Catherine J Wu, Mark D Fleming, Benjamin L Ebert
More than 80% of patients with the refractory anemia with ring sideroblasts subtype of myelodysplastic syndrome (MDS) have mutations in Splicing Factor 3B, Subunit 1 (SF3B1). We generated a conditional knockin mouse model of the most common SF3B1 mutation, Sf3b1(K700E). Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion. Sf3b1(K700E) myeloid progenitors and SF3B1-mutant MDS patient samples demonstrate aberrant 3' splice-site selection associated with increased nonsense-mediated decay...
September 12, 2016: Cancer Cell
Kristin L Jack, Wilma J Koopman, Denise Hulley, Michael W Nicolle
OBJECTIVES: Myasthenia gravis (MG) is an autoimmune disorder in which antibodies interfere with neuromuscular transmission. Azathioprine (AZA) is an immunosuppressant frequently used for treatment of various autoimmune conditions, including MG. The literature suggests that the rates of AZA-associated hepatotoxicity and myelosuppression in MG are highly variable. Published studies have not formally analyzed their pattern, severity, timing, and/or recovery. We assessed the prevalence, pattern and timing of AZA associated toxicity in a large group of MG patients...
September 2016: Journal of Clinical Neuromuscular Disease
Kou-Ray Lin, Hsin-Fang Yang-Yen, Huang-Wei Lien, Wei-Hao Liao, Chang-Jen Huang, Liang-In Lin, Chung-Leung Li, Jeffrey Jong-Young Yen
Tribbles homolog 2 (Trib2) is a member of Tribbles protein pseudokinases and involves in apoptosis, autoimmunity, cancer, leukemia and erythropoiesis, however, the physiological function of Trib2 in hematopoietic system remains to be elucidated. Here, we report that Trib2 knockout (KO) mice manifest macrocytic anemia and increase of T lymphocytes. Although Trib2 deficient RBCs have similar half-life as the control RBCs, Trib2 KO mice are highly vulnerable to oxidant-induced hemolysis. Endogenous Trib2 mRNA is expressed in early hematopoietic progenitors, erythroid precursors, and lymphoid lineages, but not in mature RBCs, myeloid progenitors and granulocytes...
2016: Scientific Reports
Coral M Stredny, Olivia Frosch, Samata Singhi, Elissa Furutani, Adam D Durbin, Rachael F Grace, Nicole J Ullrich
BACKGROUND: Vitamin B12 deficiency is classically encountered in the adult Caucasian population and manifests as a subacute combined degeneration in the presence or absence of macrocytic anemia. However, B12 deficiency is extremely rare in children in developed countries, and pernicious anemia is even rarer etiology of this deficiency. The clinical presentation of B12 deficiency in children is not as easily recognizable or well-characterized and may result in missed or delayed diagnosis...
September 2016: Pediatric Neurology
Elena D'Alcamo, V Agrigento, L Pitrolo, S Sclafani, R Barone, G Calvaruso, V Buffa, A Maggio
Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for β (+) -globin IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1...
June 2016: Indian Journal of Hematology & Blood Transfusion
Mehjbeen Javed, Irshad Ahmad, Ajaz Ahmad, Nazura Usmani, Masood Ahmad
The present study was conducted to assess the toxicity of thermal power plant effluent containing heavy metals (Fe > Cu > Zn > Mn > Ni > Co > Cr) on haematological indices, micronuclei, lobed nuclei and activity of pathological marker enzymes [alkaline phosphatase (ALP), aspartate transferase (AST), alanine transferase (ALT) and creatine kinase (CK)] in Channa punctatus. Total erythrocyte count (-54.52 %), hemoglobin (-36.98 %), packed cell volume (-36.25 %), mean corpuscular hemoglobin concentration (-1...
2016: SpringerPlus
Natsuko Takahashi, Junichi Kameoka, Naoto Takahashi, Yoshiko Tamai, Kazunori Murai, Riko Honma, Hideyoshi Noji, Hisayuki Yokoyama, Yasuo Tomiya, Yuichi Kato, Kenichi Ishizawa, Shigeki Ito, Yoji Ishida, Kenichi Sawada, Hideo Harigae
There have been no studies on the distribution of causes of macrocytic anemia with respect to mean corpuscular volume (MCV) cutoff values. We retrospectively investigated the causes of macrocytic anemia (MCV ≥100 fL) among 628 patients who visited the outpatient hematology clinic in Tohoku University Hospital. To ensure data validity, we also analyzed data from 307 patients in eight other hospitals in the Tohoku district. The leading causes of macrocytic anemia (number of patients, %) were myelodysplastic syndromes (121, 19...
September 2016: International Journal of Hematology
Pierluigi Marzuillo, Anna Grandone, Silverio Perrotta, Laura Ruggiero, Carlo Capristo, Caterina Luongo, Emanuele Miraglia Del Giudice, Laura Perrone
BACKGROUND: In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentations from subclinical hypothyroidism to overt form. We describe a child with acquired autoimmune thyroiditis during a very early period of life and with a severe hypothyroidism presentation. CASE PRESENTATION: A 22-month-old white male patient with normal neonatal screening presented with a six-month history of asthenia and cutaneous pallor...
2016: Italian Journal of Pediatrics
Adriana De La Garza, Rosannah C Cameron, Sara Nik, Sara G Payne, Teresa V Bowman
SF3B1 (Splicing factor 3b, subunit 1) is one of the most commonly mutated factors in myelodysplastic syndrome (MDS). Although the genetic correlation between SF3B1 mutations and MDS etiology are quite strong, no in vivo model currently exists to explore how SF3B1 loss alters blood cell development. Using zebrafish mutants, we show here that proper function of Sf3b1 is required for all hematopoietic lineages. As in MDS patients, zebrafish sf3b1 mutants develop a macrocytic-anemia-like phenotype due to a block in maturation at a late progenitor stage...
September 2016: Experimental Hematology
Orna Steinberg-Shemer, Siobán Keel, Orly Dgany, Tom Walsh, Sharon Noy-Lotan, Tanya Krasnov, Joanne Yacobovich, Paola Quarello, Ugo Ramenghi, Mary-Claire King, Akiko Shimamura, Hannah Tamary
Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was established by identification of a novel de novo mutation disrupting normal splicing of the ribosomal protein RPL5. The diagnosis of DBA was confirmed by elevated erythrocyte adenosine deaminase levels and an abnormal ribosomal RNA profile...
October 2016: Journal of Pediatric Hematology/oncology
Jason Ear, Jessica Hsueh, Melinda Nguyen, QingHua Zhang, Victoria Sung, Rajesh Chopra, Kathleen M Sakamoto, Shuo Lin
5q-syndrome is a distinct form of myelodysplastic syndrome (MDS) where a deletion on chromosome 5 is the underlying cause. MDS is characterized by bone marrow failures, including macrocytic anemia. Genetic mapping and studies using various models support the notion that ribosomal protein S14 (RPS14) is the candidate gene for the erythroid failure. Targeted disruption of RPS14 causes an increase in p53 activity and p53-mediated apoptosis, similar to what is observed with other ribosomal proteins. However, due to the higher risk for cancer development in patients with ribosome deficiency, targeting the p53 pathway is not a viable treatment option...
May 20, 2016: Journal of Genetics and Genomics, Yi Chuan Xue Bao
Hanna Shalev, Kaid Al-Athamen, Itai Levi, Aviva Levitas, Hannah Tamary
Congenital dyserythropoietic anemia type I (CDAI) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis and secondary hemochromatosis. To better define the natural history of the disease among adult patients we studied 32 Bedouin patients (median age 34 years; range 21-60) all carrying the same CDAN1 founder mutation. Follow up studies included complete blood count, blood chemistry, abdominal ultrasound, echocardiography and T2*MRI. Main complications were due to anemia and ineffective erythropoiesis [osteoporosis (8/9, 89%), cholelithiasis (21/30, 70%), pulmonary hypertension (PAH) (6/25, 24%)] and iron overload [hypothyroidism (9/24, 38%), and diabetes mellitus (6/32, 19%)]...
May 20, 2016: European Journal of Haematology
Joshua E Mangum, Justin P Hardee, Dennis K Fix, Melissa J Puppa, Johnathon Elkes, Diego Altomare, Yelena Bykhovskaya, Dean R Campagna, Paul J Schmidt, Anoop K Sendamarai, Hart G W Lidov, Shayne C Barlow, Nathan Fischel-Ghodsian, Mark D Fleming, James A Carson, Jeffrey R Patton
Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphorylation disorder, with primary clinical manifestations of myopathic exercise intolerance and a macrocytic sideroblastic anemia. One cause of MLASA is recessive mutations in PUS1, which encodes pseudouridine (Ψ) synthase 1 (Pus1p). Here we describe a mouse model of MLASA due to mutations in PUS1. As expected, certain Ψ modifications were missing in cytoplasmic and mitochondrial tRNAs from Pus1(-/-) animals...
2016: Scientific Reports
M Buttarello
INTRODUCTION: Anemia is a global problem affecting the population in both developing and developed countries, and there is a debate on which hemoglobin level limit should be used to define anemia in general population and particularly in the elderly. We present herein a laboratory approach to diagnosing the possible causes of anemia based on traditional and new erythroid parameters. In this article, we provide practical diagnostic algorithms that address to differential diagnosis of anemia...
May 2016: International Journal of Laboratory Hematology
Hairong Xu, Lanfang Xu, John H Page, Kim Cannavale, Olivia Sattayapiwat, Roberto Rodriguez, Chun Chao
PURPOSE: The purpose of this study was to evaluate and characterize the risk of anemia during the course of chemotherapy among patients with five common types of solid tumors. PATIENTS AND METHODS: Patients diagnosed with incident cancers of breast, lung, colon/rectum, stomach, and ovary who received chemotherapy were identified from Kaiser Permanente Southern California Health Plan (2010-2012). All clinical data were collected from the health plan's electronic medical records...
2016: Clinical Epidemiology
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