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Megaloblastic anemia

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https://www.readbyqxmd.com/read/28360040/vitamin-b12-deficiency-from-the-perspective-of-a-practicing-hematologist
#1
Ralph Green
B12 deficiency is the leading cause of megaloblastic anemia and though 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...
March 30, 2017: Blood
https://www.readbyqxmd.com/read/28351841/maternofetal-transport-of-vitamin-b12-role-of-tcblr-cd320-and-megalin
#2
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...
March 28, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28326965/hematogones-detected-by-flow-cytometry-in-a-child-with-vitamin-b12-deficiency
#3
Lisa Sutton, Nkechi Mba
Vitamin B12 deficiency is a known cause of megaloblastic anemia and bone marrow failure. Bone marrow biopsies are not frequently performed as part of the diagnostic workup and can demonstrate morphologic features that overlap with myelodysplastic syndrome (MDS) and acute leukemia. We describe a case of a dysplastic bone marrow with increased bone marrow hematogones detected by flow cytometry in a child with vitamin B12 deficiency. Hematogones are normal B cell precursors, and hyperplasia has been described in a variety of often reactive conditions and also disease...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28306690/combined-megaloblastic-and-sideroblastic-anemia-in-an-infant-fed-with-goat-s-milk
#4
Ananya Datta-Mitra, Elham Vali-Betts, Ralph Green, Hooman Rashidi, Jong Hee Chung, Denis M Dwyre
No abstract text is available yet for this article.
May 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28216963/micronutrient-deficiencies-in-patients-with-chronic-atrophic-autoimmune-gastritis-a-review
#5
EDITORIAL
Federica Cavalcoli, Alessandra Zilli, Dario Conte, Sara Massironi
Chronic atrophic autoimmune gastritis (CAAG) is an organ-specific autoimmune disease characterized by an immune response, which is directed towards the parietal cells and intrinsic factor of the gastric body and fundus and leads to hypochlorhydria, hypergastrinemia and inadequate production of the intrinsic factor. As a result, the stomach's secretion of essential substances, such as hydrochloric acid and intrinsic factor, is reduced, leading to digestive impairments. The most common is vitamin B12 deficiency, which results in a megaloblastic anemia and iron malabsorption, leading to iron deficiency anemia...
January 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#6
Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, Fernando Kok
BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI)...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#7
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28169460/alterations-of-the-hematologic-cells-in-synthetic-cannabinoid-users
#8
Derya Guzel, Ahmet Bulent Yazici, Esra Yazici, Atila Erol
BACKGROUND: Functions, morphology, distributions, and index of the circulating cells are the most useful parameters that indicate various inflammatory and toxic conditions. The aim of this study was to investigate the clinical significance of these parameters in patients diagnosed with (synthetic) cannabis use disorder. METHODS: This study included a total of 40 patients in the study group (SG) with synthetic cannabis use; and 40 healthy individuals as the control group (CG)...
February 7, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28076318/beta-cell-function-and-clinical-course-in-three-siblings-with-thiamine-responsive-megaloblastic-anemia-trma-treated-with-thiamine-supplementation
#9
Kathryn Potter, John Wu, Julie Lauzon, Josephine Ho
Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months' old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She was started on insulin and developed sensorineural hearing loss around 2 years old. Two siblings were found to have the same mutation and were started on thiamine. One sibling developed transient hyperglycemia after several years of thiamine supplementation of 12 mg/kg that resolved with an increased thiamine dose (23 mg/kg)...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28073728/biermer-anemia-hematologic-characteristics-of-66-patients-in-a-clinical-hematology-unit-at-senegal
#10
F Seynabou, N Fatou Samba Diago, D Oulimata Diop, S Abibatou Fall, D Nafissatou
Hematological manifestations can lead to diagnosis of pernicious anemia, also known as Biermer disease and Biermer anemia. This disease has been little studied among black Africans. Our aim is to describe its diagnostic and therapeutic aspects and outcome in our practice. This descriptive study retrospectively examined the records of 66 patients with pernicious anemia seen at the Clinical Hematology Unit of Le Dantec Hospital in Senegal from January 1, 2000, to June 30, 2014. Symptoms were anemic syndrome (40 cases), hemolytic anemia (13), anemic heart failure (7), isolated pallor of the mucous membranes (5), and venous thrombosis (2)...
November 1, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/28060111/frequent-infections-hypotonia-and-anemia-in-a-breastfed-infant
#11
Fatma Kamoun, Rime Guirat, Fatma Megdich, Salma Ben Ameur, Choumous Kallel, Mongia Hachicha
Vitamin B12 deficiency may be responsible of serious hematologic and neurodevelopmental abnormalities. We report the case of an infant who was hospitalized because of recurrent infections, failure to thrive, hypotonia, and weakness. He was 8 months old and had been exclusively breastfed. Blood cell count showed pancytopenia with megaloblastic bone marrow. The serum IgG concentration was low. Vitamin B12 level was very low and associated with increased urinary methylmalonic acid. Cobalamin deficiency was caused by mother's unrecognized pernicious anemia...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28050621/-a-two-faced-vitamin-folic-acid-prevention-or-promotion-of-colon-cancer
#12
Anke Weißenborn, Anke Ehlers, Karen-I Hirsch-Ernst, Alfonso Lampen, Birgit Niemann
In the late 1930s, it was discovered that liver and yeast extracts can be used to correct certain cases of megaloblastic anemia in pregnancy. The factor responsible for this was isolated from spinach leaves in the 1940s, and referred to as folate, a term derived from the Latin word folium for leaf. Folate is considered an essential nutrient for human beings. Folic acid, the synthetic form of the vitamin, is used in dietary supplements, medicines and fortified foods. Since the 1980s, it has been recommended that women who plan to become pregnant and pregnant women during the first trimester of pregnancy take folic acid supplements...
January 3, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28043314/hepatitis-b-leading-to-megaloblastic-anemia-and-catastrophic-peripheral-thrombocytopenia
#13
Muhammad Hafeez, Tariq Sarfraz, Raja Ghayas Khan, Abdul Rafe, Ghulam Rasool, Kamran Nazir Ahmed
Hepatitis B virus (HBV) typically causes chronic hepatitis, cirrhosis, and hepatocellular carcinoma. It is associated with a variety of extrahepatic complications. We herein, present a rare extrahepatic complication of HBV infection. A 32-year man presented with melena, bleeding from gums and fever. Peripheral blood examination revealed anemia, macrocytosis and severe thrombocytopenia. His hepatitis B surface antigen (HBsAg) was positive but deoxyribonucleic acid (HBV DNA) by polymerase chain reaction (PCR) was negative...
December 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28031855/neurologic-symptoms-as-the-only-manifestation-of-b12-deficiency-in-a-young-patient-with-normal-hematocrit-mcv-peripheral-blood-smear-and-homocysteine-levels
#14
Panagiota Voukelatou, Ioannis Vrettos, Andreas Kalliakmanis
B12 deficiency is associated with several neurological manifestations. It is well documented that neurologic symptoms due to B12 deficiency may sometimes present in the absence of anemia. However, in most cases there are several indicating factors like megaloblastic changes in complete blood count, hypersegmentated neutrophils or macroovalocytes in peripheral blood smear and abnormal homocysteine levels. In this report, we describe a case of a 32-year-old man with neurological symptomatology as the only manifestation of B12 deficiency with normal hematocrit, mean cell volume, peripheral blood smear and homocysteine levels...
December 2016: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28004468/first-2-cases-with-thiamine-responsive-megaloblastic-anemia-in-the-czech-republic-a-rare-form-of-monogenic-diabetes-mellitus-a-novel-mutation-in-the-thiamine-transporter-slc19a2-gene-intron-1-mutation-c-204-2t-g
#15
Renata Pomahačová, Jana Zamboryová, Josef Sýkora, Petra Paterová, Karel Fiklík, Tomáš Votava, Zdeňka Černá, Petr Jehlička, Václav Lád, Ivan Šubrt, Jiří Dort, Eva Dortová
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with TRMA first diagnosed in the Czech Republic and in central Europe being confirmed by sequencing of the THTR-1 gene SLC19A2. Both subjects are compound heterozygotes with 3 different mutations in the SLC19A2 gene...
December 22, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27956372/comment-in-response-to-megaloblastic-anemia-with-ring-sideroblasts-is-not-always-myelodysplastic-syndrome
#16
Smeeta Gajendra
No abstract text is available yet for this article.
December 12, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/27938595/-two-cases-with-generalized-intracranial-calcification-due-to-hereditary-folate-malabsorption-and-literature-review
#17
Y Zhang, Q Wang, D X Li, Y P Liu, J Q Song, M Q Li, Y P Qin, Y L Yang
Objective: This study aimed to investigate the clinical, biochemical and genetic features of two Chinese children with hereditary folate malabsorption. Method: Clinical features, laboratory examinations, treatment and SLC46A1 gene of two cases were studied. Reports on hereditary folate malabsorption utill September of 2016 were searched and the clinical and genetic characteristics of reported cases were summarized. Result: The two patients presented with megaloblastic anemia from their infant period and seizures, psychomotor retardation and regression...
December 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27932751/-a-case-of-subacute-combined-degeneration-caused-by-vitamin-b-sub-12-sub-deficiency-in-a-cervical-spondylosis-surgery-referral
#18
Kunio Yokoyama, Masahiro Kawanishi, Akira Sugie, Makoto Yamada, Hidekazu Tanaka, Yutaka Ito, Toshihiko Kuroiwa
A 62-year-old man with a 1-year history of numbness of the extremities, clumsiness, and gait disorder was diagnosed with cervical spondylotic myelopathy at a neighboring clinic and referred to our institution for surgery. The patient had undergone a total gastrectomy 6 years previously. Flattening of the cervical cord, associated with diffuse cervical spondylosis and intramedullary intensity change, was observed on magnetic resonance imaging of the cervical spine. Neurological examination revealed decreased vibratory and position sense in all limbs, with posterior funiculus-based neurological symptoms...
December 2016: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/27870069/suspected-myelodysplastic-myeloproliferative-neoplasm-in-a-feline-leukemia-virus-negative-cat
#19
Amy L Weeden, Kyle R Taylor, Scott P Terrell, Alexander E Gallagher, Heather L Wamsley
A 10-year-old castrated Domestic Short-Haired cat was presented to a primary care veterinarian for a wellness examination and laboratory examination for monitoring of diabetes mellitus. The CBC revealed marked thrombocytosis, leukopenia and macrocytic, normochromic anemia. The cat tested negative for FeLV and feline immunodeficiency virus, but was positive for Mycoplasma haemominutum by PCR. Hematologic abnormalities were not responsive to therapy, so a repeat CBC and a bone marrow aspiration for cytology were performed...
December 2016: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/27780269/comparative-assessment-of-vitamin-b12-folic-acid-and-homocysteine-levels-in-relation-to-p53-expression-in-megaloblastic-anemia
#20
Manish K Yadav, Nandini M Manoli, SubbaRao V Madhunapantula
BACKGROUND: Megaloblastic anemia (MBA), also known as macrocytic anemia, is a type of anemia characterized by decreased number of RBCs as well as the presence of unusually large, abnormal and poorly developed erythrocytes (megaloblasts), which fail to enter blood circulation due to their larger size. Lack of vitamin-B12 (VB12) and / or folate (Vitamin-B9, VB9) with elevated homocysteine is the key factor responsible for megaloblastic anemia. Prior studies have demonstrated the induction of apoptosis in these abnormal under-developed erythrocytes...
2016: PloS One
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