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Macrocytic anemia

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https://www.readbyqxmd.com/read/28970684/insight-into-donor-deferral-pattern-based-on-peripheral-blood-counts-an-experience-from-south-pakistan
#1
Sadia Sultan, Syed Mohammed Irfan, Mohammad Amjad Baig, Syed Mohammad Usman, Umme Aiman Shirazi
BACKGROUND: Donor deferral owing to anemia is one of the major causative factors of temporary donor rejection, which is preventable and treatable. The basic knowledge about frequency, types, and severity of anemia among donors will help plan a strategy to promote donor recruitment and overall national health. OBJECTIVE: The objective of this study was to provide the predonation deferral rate of the healthy blood donors based on peripheral blood counts and second to determine the types of anemia along with its severity...
July 2017: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/28958967/immune-thrombocytopenia-associated-with-malaria-a-case-report
#2
Mouhcine Miloudi, Mohammed Sbaai, Jamal Fatihi
The association of immune thrombocytopenic with malaria is a rare event. We describ the case of a young soldier who, after returning from Central Africa, presented a fever associated with petechial purpura and gingivorrhagia, hemogram showed deep thrombocytopenia and macrocytic normochrome anemia, thick peripheral blood smears confirmed the diagnosis of Plasmodium falciparum malaria, the patient was treated with quinine, but deep thrombocytopenia and hemorrhagic manifestations persisted, the patient then underwent corticosteroid therapy, with favorable evolution and progressive normalization of platelets...
October 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28942350/refractory-macrocytic-anemias-in-patients-with-clonal-hematopoietic-disorders-and-isolated-mutations-of-the-spliceosome-gene-zrsr2
#3
Roger A Fleischman, Shannon S Stockton, Christopher R Cogle
Although mutations in RNA splicing genes occur frequently in patients with clonal cytopenias of unknown significance (CCUS) and myelodysplastic syndromes (MDS), very often additional common myeloid gene driver mutations are present at diagnosis. Thus, the clinical significance of isolated mutations in the most commonly mutated RNA splicing genes remains unknown. Here we report five unusual patients with an isolated mutation causing a loss of function of ZRSR2, a protein required for recognition of a functional 3' splice site...
October 2017: Leukemia Research
https://www.readbyqxmd.com/read/28803808/two-novel-mutations-p-ser160pro-and-p-arg472cys-causing-glucose-6-phosphate-isomerase-deficiency-are-associated-with-erythroid-dysplasia-and-inappropriately-suppressed-hepcidin
#4
Renata Mojzikova, Pavla Koralkova, Dusan Holub, Zuzana Saxova, Dagmar Pospisilova, Daniela Prochazkova, Petr Dzubak, Monika Horvathova, Vladimir Divoky
Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. We report three patients from two unrelated families of Czech and Slovak origin with macrocytic hemolytic anemia due to GPI deficiency. The first patient had 15% of residual GPI activity resulting from two new heterozygous missense mutations c.478T>C and c.1414C>T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys)...
April 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28711333/b12-deficiency-leading-to-marked-poikilocytosis-versus-true-schistocytosis-a-pernicious-problem
#5
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/28673543/autogenous-control-of-5%C3%A2-top-mrna-stability-by-40s-ribosomes
#6
Antonio Gentilella, Francisco D Morón-Duran, Pedro Fuentes, Guilherme Zweig-Rocha, Ferran Riaño-Canalias, Joffrey Pelletier, Marta Ruiz, Gemma Turón, Julio Castaño, Albert Tauler, Clara Bueno, Pablo Menéndez, Sara C Kozma, George Thomas
Ribosomal protein (RP) expression in higher eukaryotes is regulated translationally through the 5′TOP sequence. This mechanism evolved to more rapidly produce RPs on demand in different tissues. Here we show that 40S ribosomes, in a complex with the mRNA binding protein LARP1, selectively stabilize 5′TOP mRNAs, with disruption of this complex leading to induction of the impaired ribosome biogenesis checkpoint (IRBC) and p53 stabilization. The importance of this mechanism is underscored in 5q− syndrome, a macrocytic anemia caused by a large monoallelic deletion, which we found to also encompass the LARP1 gene...
July 6, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28667789/efficacy-of-oral-methylcobalamin-in-treatment-of-vitamin-b12-deficiency-anemia-in-children
#7
Deepti Verma, Jagdish Chandra, Praveen Kumar, Shailaja Shukla, Shantanu Sengupta
To demonstrate the efficacy of oral methylcobalamin in treating vitamin B12 (vitB12) deficiency anemia, our prospective observational study enrolled 28 children with both macrocytic anemia and low holotranscobalamin (HoloTC) levels. Their hematological and biochemical parameters pre- and posttreatment at 1 month were compared. Hemoglobin showed mean increase of 2.89 g/dl (P < 0.001), rising above 10 g/dl in 24 patients (85.7%). Reticulocytes peaked at 1 week. Mean fall in mean corpuscular volume of 24...
July 1, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28626543/cerebral-stroke-in-a-teenage-girl-with-paroxysmal-nocturnal-hemoglobinuria
#8
Francesco Gervasi, Lucia D'Amelio, Antonino Trizzino, Fabrizia Ferraro, Delia Russo, Giuseppe Santangelo, Francesca Cardella, Angela Trizzino, Floriana Di Marco, Piero Farruggia
We report a case of paroxysmal nocturnal hemoglobinuria (PNH) in a 14 year-old girl presenting a cerebral arterial thrombosis. The initial diagnosis was carential anemia due to menarche following identification of slight macrocytic anemia, leucopenia and mild thrombocytopenia at routine blood analysis. The child was eventually referred to a children's hospital after the onset of progressive fatigue, anorexia and paleness. Severe anemia (hemoglobin 6 g/dL) with negative Coombs test, mild leucopenia (white blood cells 4...
June 1, 2017: Hematology Reports
https://www.readbyqxmd.com/read/28552630/protective-effects-of-melatonin-on-long-term-administration-of-fluoxetine-in-rats
#9
Majid Khaksar, Ahmad Oryan, Mansour Sayyari, Aysa Rezabakhsh, Reza Rahbarghazi
The degree and consequence of tissue injury are highly regarded during long-term exposure to selective antidepressant fluoxetine. Melatonin has been shown to palliate different lesions by scavenging free radicals, but its role in the reduction of the fluoxetine-induced injuries has been little known. Thirty-six mature male Wistar rats were randomly assigned into control and experimental groups. The experimental rats were included as following; 24mg/kg/bw fluoxetine for 4 weeks; 1mg/kg/bw melatonin for 4 weeks; fluoxetine+1-week melatonin, fluoxetine+2-week melatonin and fluoxetine+4-week melatonin...
October 2, 2017: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/28538514/long-term-outcome-of-4-patients-with-transcobalamin-deficiency-caused-by-2-novel-tcn2-mutations
#10
Marwan Nashabat, Gustavo Maegawa, Peter H Nissen, Ebba Nexo, Hussain Al-Shamrani, Mohammed Al-Owain, Majid Alfadhel
Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Deficiency of TC results in an elevation in methylmalonic acid and homocysteine. Patients usually present with macrocytic anemia, pancytopenia, failure to thrive, gastrointestinal symptoms, and neurological dysfunction...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28504500/infantile-onset-thiamine-responsive-megaloblastic-anemia-syndrome-with-slc19a2-mutation-a-case-report
#11
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/28473932/acquired-thrombotic-thrombocytopenic-purpura-in-a-patient-with-pernicious-anemia
#12
Ramesh Kumar Pandey, Sumit Dahal, Kamal Fadlalla El Jack Fadlalla, Shambhu Bhagat, Bikash Bhattarai
Introduction. Acquired thrombotic thrombocytopenic purpura (TTP) has been associated with different autoimmune disorders. However, its association with pernicious anemia is rarely reported. Case Report. A 46-year-old male presented with blood in sputum and urine for one day. The vitals were stable. The physical examination was significant for icterus. Lab tests' results revealed leukocytosis, macrocytic anemia, severe thrombocytopenia, renal dysfunction, and unconjugated hyperbilirubinemia. He had an elevated LDH, low haptoglobin levels with many schistocytes, nucleated RBCs, and reticulocytes on peripheral smear...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28471487/folic-acid-is-necessary-for-proliferation-and-differentiation-of-c2c12-myoblasts
#13
Seong Y Hwang, Yong J Kang, Bokyung Sung, Jung Y Jang, Na L Hwang, Hye J Oh, Yu R Ahn, Hong J Kim, Jin H Shin, Mi-Ae Yoo, Cheol M Kim, Hae Y Chung, Nam D Kim
Folic acid, a water soluble B vitamin, plays an important role in cellular metabolic activities, such as functioning as a cofactor in one-carbon metabolism for DNA and RNA synthesis as well as nucleotide and amino acid biosynthesis in the body. A lack of dietary folic acid can lead to folic acid deficiency and result in several health problems, including macrocytic anemia, elevated plasma homocysteine, cardiovascular disease, birth defects, carcinogenesis, muscle weakness, and walking difficulty. However, the effect of folic acid deficiency on skeletal muscle development and its molecular mechanisms are unknown...
May 4, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28400547/anemia-in-thyroid-diseases
#14
Ewelina Szczepanek-Parulska, Aleksandra Hernik, Marek Ruchała
Anemia is a frequent, although often underestimated, clinical condition accompanying thyroid diseases. Despite the fact that anemia and thyroid dysfunction often occur simultaneously, the causative relationship between the disorders remains ambiguous. Thyroid hormones stimulate the proliferation of erythrocyte precursors both directly and via erythropoietin production enhancement, while iron-deficient anemia negatively influences thyroid hormone status. Thus, different forms of anemia might develop in the course of thyroid dysfunction...
May 31, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28398409/-macrocytosis-of-red-blood-cells-and-early-arthritis-positive-for-rheumatoid-factor-such-as-initial-manifestations-of-a-neuroendocrine-gastrin-secreting-gastric-tumor
#15
Ciro Manzo, Maria Natale, Gennaro Mossetti, Aniello Piscopo
Neuroendocrine tumors (NETs) represent uncommon tumors arising from the excessive proliferation of enterochromaffin-like (ECL) cells (so-called Kulchitsky cell). Gastric NETs (GNET) represent less than 2% of all NETs and less than 1% of all stomach neoplasms. In particular, gastric NETs type 1 (associated to chronic atrophic gastritis and hypergastrinaemia) is the more frequent one, accounting for 70-80% of all GNET. A macrocytic anemia is a frequent manifestation of GNET type 1. The possibility that macrocytic anemia appear during therapy with methotrexate (MTX) is widely documented...
March 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/28321437/middle-eastern-adolescent-with-macrocytic-anemia
#16
Sneha Butala, Brian Berman
No abstract text is available yet for this article.
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28288851/clinically-distinct-presentations-of-copper-deficiency-myeloneuropathy-and-cytopenias-in-a-patient-using-excessive-zinc-containing-denture-adhesive
#17
Sahara J Cathcart, Alina G Sofronescu
OBJECTIVES: While copper deficiency has long been known to cause cytopenias, copper deficiency myeloneuropathy is a more recently described entity. Here, we present the case of two clinically distinct presentations of acquired copper deficiency syndromes secondary to excessive use of zinc-containing denture adhesive over five years: myeloneuropathy and severe macrocytic anemia and neutropenia. METHODS: Extensive laboratory testing and histologic evaluation of the liver and bone marrow, were necessary to rule out other disease processes and establish the diagnosis of copper deficiency...
August 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28265287/pernicious-anemia-associated-cobalamin-deficiency-and-thrombotic-microangiopathy-case-report-and-review-of-the-literature
#18
Farhanah Yousaf, Bruce Spinowitz, Chaim Charytan, Marilyn Galler
A 43-year-old Hispanic male without significant previous medical history was brought to emergency department for syncope following a blood draw to investigate a 40 lbs weight loss during the past 6 months associated with decreased appetite and progressive fatigue. The patient also reported a 1-month history of jaundice. On examination, he was hemodynamically stable and afebrile with pallor and diffuse jaundice but without skin rash or palpable purpura. Normal sensations and power in all extremities were evident on neurological exam...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28151845/high-frequency-of-bone-marrow-depression-during-congenital-toxoplasmosis-therapy-in-a-cohort-of-children-identified-by-neonatal-screening-in-minas-gerais-brazil
#19
Ericka Viana Machado Carellos, Juliana Queiroz de Andrade, Roberta Maia Castro Romanelli, Jacqueline Domingos Tibúrcio, José Nélio Januário, Daniel Vítor Vasconcelos-Santos, Rosângela Maria Figueiredo, Gláucia Manzan Queiroz de Andrade
BACKGROUND: There are few studies reporting frequency and control of adverse events associated with congenital toxoplasmosis treatment. The objective of this study is to describe treatment adherence and adverse hematologic events in a cohort of children identified with congenital toxoplasmosis in Minas Gerais, Brazil. METHODS: Children were treated with sulfadiazine, pyrimethamine and folinic acid and were evaluated clinically and by laboratory tests at regular intervals...
January 31, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28099573/hematological-and-morphometric-differences-of-blood-cells-from-rheas-rhea-americana-struthioniformes-rheidae-on-two-conservation-farms
#20
S S M Gallo, N B Ederli, F C R Oliveira
Today, blood tests are an indispensable tool in avian medicine. This study aimed to describe and compare hematological and morphometric data of erythrocytes, leukocytes and thrombocytes of rhea, Rhea americana. To do so, 58 rheas of both sexes on two farms, one in Cachoeiro do Itapemirim, Espírito Santo (ES), and the other in São Carlos, São Paulo (SP), were selected. Blood samples were taken and their RBC counts, PCV and Hb levels were determined and used in hematimetric index calculations. The total and differentiated leukocyte counts and the TPP and fibrinogen serum levels were also obtained...
April 2017: Brazilian Journal of Biology, Revista Brasleira de Biologia
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