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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
#1
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)...
January 11, 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
#2
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
#3
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...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28050621/-a-two-faced-vitamin-folic-acid-prevention-or-promotion-of-colon-cancer
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27743764/-psychomotor-regression-due-to-vitamin-b12-deficiency
#13
J Caltagirone, A Dupont, M Afanetti, E Gondon, D Dupont
The vitamin B12 reserves of newborns are dependent on transplacental transfer and secondarily on food intake. This vitamin is involved in hematopoiesis and in neurological development. We report the case of a severe vitamin B12 deficiency in a 7-month-old infant. A neurological evaluation performed at 5 months of age for psychomotor regression found nonspecific cortical atrophy. The infant was hospitalized for impaired general condition and worsening of neurological symptoms. Examinations revealed bicytopenia with normocytic anemia (Hb: 7...
December 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27728103/-rediscovering-arneth-count-prevalence-of-megaloblastic-anemia-in-chronic-metformin-users
#14
Deenadayalan T, R Jayanthi
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27715070/-clinically-relevant-possibilities-and-limits-of-differential-diagnosis-of-megaloblastic-anemia-and-myelodysplastic-syndrome%C3%A2-refractory-anemia-type-in-bone-marrow-biopsies
#15
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
https://www.readbyqxmd.com/read/27707659/precision-molecular-diagnosis-defines-specific-therapy-in-combined-immunodeficiency-with-megaloblastic-anemia-secondary-to-mthfd1-deficiency
#16
Kesava A Ramakrishnan, Reuben J Pengelly, Yifang Gao, Mary Morgan, Sanjay V Patel, E Graham Davies, Sarah Ennis, Saul N Faust, Anthony P Williams
BACKGROUND: Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency. OBJECTIVE: To describe our investigative approach to the molecular diagnosis and evaluation of immune dysfunction in a family with MTHFD1 deficiency. METHODS: The methods used were exome sequencing and analysis of variants in genes involved in the folate metabolic pathway in a family with 2 affected siblings...
October 1, 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27680995/applying-inappropriate-cutoffs-leads-to-misinterpretation-of-folate-status-in-the-us-population
#17
Christine M Pfeiffer, Maya R Sternberg, Heather C Hamner, Krista S Crider, David A Lacher, Lisa M Rogers, Regan L Bailey, Elizabeth A Yetley
BACKGROUND: Folate cutoffs for risk of deficiency compared with possible deficiency were originally derived differently (experimental compared with epidemiologic data), and their interpretations are different. The matching of cutoffs derived from one assay with population-based data derived from another assay requires caution. OBJECTIVE: We assessed the extent of folate-status misinterpretation with the use of inappropriate cutoffs. DESIGN: In the cross-sectional NHANES, serum and red blood cell (RBC) folate were first measured with the use of a radioprotein-binding assay (RPBA) (1988-2006) and, afterwards, with the use of a microbiologic assay (2007-2010)...
December 2016: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27648630/iron-deficiency-anemia-and-megaloblastic-anemia-in-obese-patients
#18
Mahmoud Arshad, Sara Jaberian, Abdolreza Pazouki, Sajedeh Riazi, Maryam Aghababa Rangraz, Somayyeh Mokhber
BACKGROUND: The association between obesity and different types of anemia remained uncertain. The present study aimed to assess the relation between obesity parameters and the occurrence of iron deficiency anemia and also megaloblastic anemia among Iranian population. METHODS: This cross-sectional study was performed on 1252 patients with morbid obesity that randomly selected from all patients referred to clinic of obesity at Rasoul-e-Akram Hospital in 2014. The morbid obesity was defined according to the guideline as body mass index (BMI) equal to or higher than 40 kg/m2...
September 18, 2016: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/27630853/effectiveness-of-pooled-platelet-transfusion-in-concordant-and-discordant-groups-among-dengue-patients
#19
Amoolya Bhat, Vijaya Chowdappa, Smita Surendra Masamatti
INTRODUCTION: Dengue affects more than 50 million people per year and is one of the most common causes of severe thrombocytopaenia. Thrombocytopaenia is a common complication of dengue and other viral fevers apart from malaria, typhoid, leptospirosis, leukaemia and megaloblastic anaemia. A platelet count of <20,000/μl is characteristically seen in dengue haemorrhagic fever and dengue fever. It results from immune complex mediated platelet destruction or bone marrow suppression. Severe thrombocytopaenia <10,000/μl is one of the indications for prophylactic platelet transfusion therapy to prevent haemorrhage...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27574833/hereditary-orotic-aciduria-and-the-excretion-of-orotidine
#20
William L Nyhan, Jon A Gangoiti
Objective Orotic aciduria and deficiency of uridine monophosphate synthetase have been observed in a patient, studied over 10 years, who had no megaloblastic anemia. Excretion of orotic acid and orotidine were 8.24 and 0.52 mmol/mol of creatinine. The ratio of 15.85 differed appreciably from that of 6 patients reported with no megaloblastic anemia. Methods The analysis of orotidine by gas chromotography mass spectrometry was conducted. Conclusion Patients with orotic aciduria with and without megaloblastic anemia cannot be distinguished by ratio of orotic acid to orotidine...
December 2016: Neuropediatrics
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