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https://www.readbyqxmd.com/read/29330271/vitamin-b12-deficiency-unusual-cause-of-jaundice-in-an-adolescent
#1
Phalguna Kousika Katakam, Asha P Hegde, Manju Venkataramaiahyappa
Vitamin B12 deficiency in vegans is a known cause of megaloblastic anaemia. We report an adolescent girl who presented with jaundice and weight loss for 6 months secondary to vitamin B12 deficiency, leading to megaloblastic anaemia. Replacement with vitamin B12 reversed her symptoms, resulting in weight gain, and normalised her haemoglobin, red blood cell morphology, bilirubin levels and serum vitamin B12 levels.
January 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29327715/de-novo-pure-erythroid-leukemia-refining-the-clinicopathologic-and-cytogenetic-characteristics-of-a-rare-entity
#2
Erica F Reinig, Patricia T Greipp, April Chiu, Matthew T Howard, Kaaren K Reichard
Per the revised fourth edition World Health Organization classification of acute myeloid leukemia, pure erythroid leukemia is now the sole type of acute erythroid leukemia. The diagnosis of this rare entity is often challenging and the cytologic overlap with non-neoplastic (eg, megaloblastic anemia) and neoplastic entities (eg, other types of acute leukemia and non-hematopoietic malignancies) warrants a significant degree of clinical, laboratory, immunophenotypic, and genetic investigation. Given the limited number of reports of this rare and diagnostically challenging entity, we report detailed clinicopathologic characteristics from 15 patients, the largest series thus far, of primary de novo pure erythroid leukemia to provide further diagnostic insights into this entity and reveal strategies for making the diagnosis...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29246873/unmethylated-promoter-dna-correlates-with-p53-expression-and-apoptotic-levels-only-in-vitamin-b9-and-b12-deficient-megaloblastic-anemia-but-not-in-non-megaloblastic-anemia-controls
#3
Manish K Yadav, Nandini M Manoli, Selvaraj Vimalraj, SubbaRao V Madhunapantula
Cyanocobalamin (Vitamin B12, VB12) and Folic acid (Vitamin B9, VB9) deficiency leads to anemia in women. We have recently shown low VB12 and VB9 levels in the serum of megaloblastic anemia (MBA) patients. Further, our study demonstrated elevated homocysteine and p53, respectively, in the serum and bone marrow aspirates of MBA patients but not in non-MBA subjects. However, it is unknown whether any gender specific variation in VB12 and VB9 level exists in MBA and non-MBA patients? In addition, it is unclear whether low VB12 and VB9 has a role in the regulation of p53 expression in MBA patients? And whether elevated p53 is functionally active? If so, does bone marrow aspirates of MBA patients show elevated apoptosis...
December 13, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29210962/long-term-multimodal-imaging-of-ocular-findings-associated-with-thiamine-responsive-megaloblastic-anemia
#4
Edmund Tsui, Jenna Tauber, Irene Barbazetto, Susan K Gelman
PURPOSE: To report on 5-year multimodal imaging of ocular findings in a patient with thiamine-responsive megaloblastic anemia. METHODS: Observational case report. RESULTS: A 20-year-old-man with a history of thiamine-responsive megaloblastic anemia demonstrated a symmetric bull's eye maculopathy. Spectral domain optical coherence tomography revealed disruption of the parafoveal ellipsoid zone, fundus autofluorescence demonstrated foveal hypoautofluorescence, and full-field electroretinogram testing revealed a decreased photopic and scotopic response consistent with cone-rod dystrophy...
November 23, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29179099/influence-of-fermentation-and-other-processing-steps-on-the-folate-content-of-a-traditional-african-cereal-based-fermented-food
#5
Fabien Saubade, Youna M Hemery, Isabelle Rochette, Jean-Pierre Guyot, Christèle Humblot
Folate deficiency can cause a number of diseases including neural tube defects and megaloblastic anemia, and still occurs in both developed and developing countries. Cereal-based food products are staple foods in many countries, and may therefore be useful sources of folate. The production of folate by microorganisms has been demonstrated in some cereal-based fermented foods, but has never been studied in a traditional African cereal based food spontaneously fermented. The microbiota of ben-saalga, a pearl-millet based fermented porridge frequently consumed in Burkina Faso, has a good genetic potential for the synthesis of folate, but the folate content of ben-saalga is rather low, suggesting that folate is lost during the different processing steps...
November 22, 2017: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/29176804/one-crisis-diverse-impacts-tissue-specificity-of-folate-deficiency-induced-circulation-defects-in-zebrafish-larvae
#6
Hung-Chi Tu, Gang-Hui Lee, Tsun-Hsien Hsiao, Tseng-Ting Kao, Tzu-Ya Wang, Jen-Ning Tsai, Tzu-Fun Fu
Folate (vitamin B9) is an essential nutrient required for cell survival, proliferation, differentiation and therefore embryogenesis. Folate deficiency has been associated with many diseases, including congenital heart diseases and megaloblastic anemia, yet the mechanisms underlying these remains elusive. Here, we examine the impact of folate deficiency on the development of the circulation system using a zebrafish transgenic line which displays inducible folate deficiency. Impaired hematopoiesis includes decreased hemoglobin levels, decreased erythrocyte number, increased erythrocyte size and aberrant c-myb expression pattern were observed in folate deficient embryos...
2017: PloS One
https://www.readbyqxmd.com/read/29068997/atypical-hemolytic-uremic-syndrome-induced-by-cblc-subtype-of-methylmalonic-academia-a-case-report-and-literature-review
#7
REVIEW
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28925645/vitamin-b12-deficiency-recognition-and-management
#8
Robert C Langan, Andrew J Goodbred
Vitamin B12 deficiency is a common cause of megaloblastic anemia, various neuropsychiatric symptoms, and other clinical manifestations. Screening average-risk adults for vitamin B12 deficiency is not recommended. Screening may be warranted in patients with one or more risk factors, such as gastric or small intestine resections, inflammatory bowel disease, use of metformin for more than four months, use of proton pump inhibitors or histamine H2 blockers for more than 12 months, vegans or strict vegetarians, and adults older than 75 years...
September 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/28711333/b12-deficiency-leading-to-marked-poikilocytosis-versus-true-schistocytosis-a-pernicious-problem
#9
James A Hall, James Mason, Julia Choi, Mark Holguin
Severe vitamin B12 deficiency is caused most commonly by autoimmune atrophic gastritis leading to loss of intrinsic factor. Vitamin B12 deficiency leading to megaloblastic anemia and demyelinating central nervous system disease is well known; however, a rare presentation of B12 deficiency described as pseudothrombotic microangiopathy is not well known. This complication presents with signs of mechanical hemolysis, elevated lactate dehydrogenase (LDH), thrombocytopenia, and a low reticulocyte count, which can be incorrectly diagnosed as thrombotic thrombocytopenic purpura and managed incorrectly...
June 20, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28637764/roth-s-spot-in-megaloblastic-anaemia
#10
Deba Prasad Dhibar, Kamal Kant Sahu, Jitender Jinagal, Sanjay Jain, Subhash Chander Varma
No abstract text is available yet for this article.
June 21, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28618975/a-black-cohosh-extract-causes-hematologic-and-biochemical-changes-consistent-with-a-functional-cobalamin-deficiency-in-female-b6c3f1-n-mice
#11
Michelle C Cora, William Gwinn, Ralph Wilson, Debra King, Suramya Waidyanatha, Grace E Kissling, Sukhdev S Brar, Dorian Olivera, Chad Blystone, Greg Travlos
Black cohosh rhizome, available as a dietary supplement, is most commonly marketed as a remedy for dysmenorrhea and menopausal symptoms. A previous subchronic toxicity study of black cohosh dried ethanolic extract (BCE) in female mice revealed a dose-dependent ineffective erythropoiesis with a macrocytosis consistent with the condition known as megaloblastic anemia. The purpose of this study was to investigate potential mechanisms by which BCE induces these particular hematological changes. B6C3F1/N female mice (32/group) were exposed by gavage to vehicle or 1,000 mg/kg BCE for 92 days...
July 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28582589/macrocytosis-secondary-to-hydroxyurea-therapy
#12
Francisco O Conrado, Amy L Weeden, Abbie L Speas, Mary K Leissinger
A 10-year-old, male neutered Shetland Sheepdog was presented to the University of Florida for evaluation of a well-granulated mast cell tumor. Hydroxyurea therapy was instituted and serial CBCs showed persistent mild anemia and macrocytosis without a corresponding increase in polychromasia. The dog's MCV increased progressively, reaching its highest value of 100.0 fL after 6 months of treatment, and a diagnosis of macrocytosis associated with hydroxyurea therapy was made. The dog's increase in MCV was prominent, and rapidly decreased after the drug was discontinued, consistent with previous observations in human and canine subjects treated with hydroxyurea...
June 5, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28569432/plasma-folate-levels-and-associated-factors-in-women-planning-to-become-pregnant-in-a-population-with-high-prevalence-of-neural-tube-defects
#13
Rui Ma, Linlin Wang, Lei Jin, Zhiwen Li, Aiguo Ren
BACKGROUND: Optimal blood folate levels of women before pregnancy are critical to the prevention of neural tube defects (NTDs). However, few studies have focused on blood folate levels of women planning to become pregnant. The aims of this study were to assess plasma folate levels in women who planned to become pregnant in a population with high prevalence of NTDs, to identify factors associated with plasma folate levels, and to evaluate the risk of NTDs at the population level. METHODS: A total of 2065 women were enrolled at the time of premarital health check-up in two rural counties in northern China from November 2009 to December 2012...
June 1, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/28545069/behavioral-alterations-are-associated-with-vitamin-b12-deficiency-in-the-transcobalamin-receptor-cd320-ko-mouse
#14
Kaveri Arora, Jeffrey M Sequeira, Alejandro I Hernández, Juan M Alarcon, Edward V Quadros
Vitamin B12 (cobalamin) deficiency is prevalent worldwide and causes megaloblastic anemia and neurologic deficits. While the anemia can be treated, the neurologic deficits can become refractive to treatment as the disease progresses. Therefore, timely intervention is critical for a favorable outcome. Moreover, the metabolic basis for the neuro-pathologic changes and the role of cobalamin deficiency in the pathology still remains unexplained. Using a transcobalamin receptor / CD320 knockout mouse that lacks the receptor for cellular uptake of transcobalamin bound cobalamin, we aimed to determine whether cobalamin deficiency in the central nervous system produced functional neurologic deficits in the mouse that would parallel those observed in humans...
2017: PloS One
https://www.readbyqxmd.com/read/28504500/infantile-onset-thiamine-responsive-megaloblastic-anemia-syndrome-with-slc19a2-mutation-a-case-report
#15
Nagehan Katipoğlu, Tuba H Karapinar, Korean Demir, Sultan Aydin Köker, Özlem Nalbantoğlu, Yılmaz Ay, Hüseyin A Korkmaz, Yeşim Oymak, Melek Yıldız, Selma Tunç, Filiz Hazan, Canan Vergin, Behzat Ozkan
BACKGROUND: Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. CASE PRESENTATION: We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day)...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28461497/folate-rescues-vitamin-b12-depletion-induced-inhibition-of-nuclear-thymidylate-biosynthesis-and-genome-instability
#16
Ashley M Palmer, Elena Kamynina, Martha S Field, Patrick J Stover
Clinical vitamin B12 deficiency can result in megaloblastic anemia, which results from the inhibition of DNA synthesis by trapping folate cofactors in the form of 5-methyltetrahydrofolate (5-methylTHF) and subsequent inhibition of de novo thymidylate (dTMP) biosynthesis. In the cytosol, vitamin B12 functions in the remethylation of homocysteine to methionine, which regenerates THF from 5-methylTHF. In the nucleus, THF is required for de novo dTMP biosynthesis, but it is not understood how 5-methylTHF accumulation in the cytosol impairs nuclear dTMP biosynthesis...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28450989/-etiological-profile-of-anemia-in-a-department-of-internal-medicine
#17
Ali Zinebi, Hicham Eddou, Karim Mohamed Moudden, Mohamed Elbaaj
Anemia is a major public health problem worldwide despite remarkable improvement in living conditions. The World Health Organization (WHO) classifies it as one of the ten most serious problems in the world. This study aims to describe the epidemiologic and etiologic profiles of the cases of anemia treated during our training. We conducted a retrospective study involving 150 patients carried out over 5 years, from January 2011 to December 2015. The average age of our patients was 48.8 years and women were more likely to be affected than men, with a sex ratio of 1...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anemia
#18
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28360040/vitamin-b12-deficiency-from-the-perspective-of-a-practicing-hematologist
#19
REVIEW
Ralph Green
B12 deficiency is the leading cause of megaloblastic anemia, and although more common in the elderly, can occur at any age. Clinical disease caused by B12 deficiency usually connotes severe deficiency, resulting from a failure of the gastric or ileal phase of physiological B12 absorption, best exemplified by the autoimmune disease pernicious anemia. There are many other causes of B12 deficiency, which range from severe to mild. Mild deficiency usually results from failure to render food B12 bioavailable or from dietary inadequacy...
May 11, 2017: Blood
https://www.readbyqxmd.com/read/28351841/maternofetal-transport-of-vitamin-b12-role-of-tcblr-cd320-and-megalin
#20
Kaveri Arora, Jeffrey M Sequeira, Edward V Quadros
Vitamin B12 deficiency causes megaloblastic anemia and neurologic disorder in humans. Gene defects of transcobalamin (TC) and the transcobalamin receptor (TCblR), needed for cellular uptake of the TC-bound B12, do not confer embryonic lethality. TC deficiency can produce the hematologic and neurologic complications after birth, whereas TCblR/CD320 gene defects appear to produce mild metabolic changes. Alternate maternofetal transport mechanisms appear to provide adequate B12 to the fetus. To understand this mechanism, we evaluated the role of TC, TCblR/CD320, and megalin in maternofetal transport of B12 in a TCblR/CD320-knockout (KO) mouse...
July 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
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