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This page shows you the latest news and research items in this category.

Cost effective improvement in the protocol for detection of haemoglobin variants --a step forward in quality assurance
Conclusion: We diagnosed 23% of abnormalities other than haemoglobinopathy by reviewing peripheral smear of samples received for haemoglobin electrophoresis. This resulted in providing proper diagnosis to the referring physician without increment in cost. (Source: BMC Research Notes)
Source: BMC Research Notes - May 9, 2013 Category: Research Authors: Natasha AliMohammad Khurshid Source Type: research

The role of Helicobacter pylori infection in hematological disorders.
Abstract Helicobacter pylori (H. pylori) is a Gram-negative spiral bacterium, classified as a carcinogen of class I, according to the World Health Organization (WHO). The infection is a major cause of gastritis, gastric and duodenal ulcer disease and increases the risk of gastric cancer. It has been implicated in the pathogenesis of several gastrointestinal, systemic or hematological diseases. The present review aims in deciphering the role of the bacterium in hematological disorders, increasing the awareness of gastroenterologists, hematologists and internal medicine practitioners, regarding the bacterium-associat...
Source: European Journal of Internal Medicine - March 20, 2013 Category: Internal Medicine Authors: Papagiannakis P, Michalopoulos C, Papalexi F, Dalampoura D, Diamantidis MD Tags: Eur J Intern Med Source Type: research

Thiamine Responsive Megaloblastic Anemia With a Novel SLC19A2 Mutation Presenting With Myeloid Maturational Arrest
(Source: Pediatric Blood and Cancer)
Source: Pediatric Blood and Cancer - March 19, 2013 Category: Cancer & Oncology Authors: Vikas Dua, Satya P. Yadav, Vijay Kumar, Afaq Ahmed Khan, Ratna Puri, Ishwar C. Verma, Sarah E. Flanagan, Sian Ellard, Anupam Sachdeva Tags: Letter to the Editor Source Type: research

Microscopic schistocyte determination according to International Council for Standardization in Hematology recommendations in various diseases
ConclusionSchistocytes were observed above 1% in many diseases other than TTP /HUS. Therefore, it is important to understand that schistocytes could be seen in various diseases, and in these cases, schistocytes were usually detected together with other red blood cell morphologic changes. These data support ICSH recommendation that a schistocyte count should be considered clinically meaningful if schistocytes represent the main morphological abnormality in the PB smear. (Source: Clinical and Laboratory Haematology)
Source: Clinical and Laboratory Haematology - March 9, 2013 Category: Hematology Authors: H. J. Huh, J. W. Chung, S. L. Chae Tags: Original Article Source Type: research

Microscopic schistocyte determination according to International Council for Standardization in Hematology recommendations in various diseases.
CONCLUSION: Schistocytes were observed above 1% in many diseases other than TTP /HUS. Therefore, it is important to understand that schistocytes could be seen in various diseases, and in these cases, schistocytes were usually detected together with other red blood cell morphologic changes. These data support ICSH recommendation that a schistocyte count should be considered clinically meaningful if schistocytes represent the main morphological abnormality in the PB smear. PMID: 23480787 [PubMed - as supplied by publisher] (Source: International Journal of Laboratory Hematology)
Source: International Journal of Laboratory Hematology - March 9, 2013 Category: Hematology Authors: Huh HJ, Chung JW, Chae SL Tags: Int J Lab Hematol Source Type: research

Laboratory testing for cobalamin deficiency in megaloblastic anemia
Abstract Cobalamin (vitamin B12) deficiency is a common cause of megaloblastic anemia in Western populations. Laboratory evaluation of megaloblastic anemia frequently includes assessment of patient cobalamin and folate status. Current total serum cobalamin measurements are performed in the clinical laboratory with competitive binding luminescence assays, whose results may not always accurately reflect actual cobalamin stores. Surrogate markers of cobalamin deficiency such as methylmalonic acid and homocysteine have been utilized in order to improve diagnostic accuracy, however the specificity of these tests by themselves a...
Source: American Journal of Hematology - February 20, 2013 Category: Hematology Authors: Matthew J. Oberley, David T. Yang Tags: Test of the Month Source Type: research

Phylogenetic analysis of cubilin (CUBN) gene.
Abstract Cubilin, (CUBN; also known as intrinsic factor-cobalamin receptor [Homo sapiens Entrez Pubmed ref NM_001081.3; NG_008967.1; GI: 119606627]), located in the epithelium of intestine and kidney acts as a receptor for intrinsic factor - vitamin B12 complexes. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. The current study investigated the possible role of CUBN in evolution using phylogenetic testing. A total of 588 BLAST hits were found for the cubilin query sequence and these hits showed putative conserved domain, CUB superfamily (as on 27(th) Nov 2012). A first-pass phylogene...
Source: Bioinformation - February 16, 2013 Category: Bioinformatics Authors: Shaik AP, Alsaeed AH, Kiranmayee S, Bammidi V, Sultana A Tags: Bioinformation Source Type: research

[Atrophic glossitis is attributed to cobalamin deficiency].
CONCLUSIONS: Cobalamin deficiency is the common cause both of MA/macrocytosis and AG, also may be the main cause of AG. Furthermore, AG may be the early clinical manifestation of cobalamin deficiency. Supported by National Natural Science Foundation of China(81170967). PMID: 23552783 [PubMed - in process] (Source: Shanghai Journal of Stomatology)
Source: Shanghai Journal of Stomatology - February 1, 2013 Category: Dentistry Authors: Zhu JC, Wang YF, Sheng J, Chen FX, Tang GY Tags: Shanghai Kou Qiang Yi Xue Source Type: research

Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1
Folate and vitamin B12 metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided partial immune reconstitution. Whole exome sequencing identified compound heterozygous mutations in the MTHFD1 gene, which encodes a trifunctional protein essential for processing of single-carbon folate derivatives. We now report the im...
Source: PEDIATRICS - February 1, 2013 Category: Pediatrics Authors: Keller, M. D., Ganesh, J., Heltzer, M., Paessler, M., Bergqvist, A. G. C., Baluarte, H. J., Watkins, D., Rosenblatt, D. S., Orange, J. S. Tags: Case Report Source Type: research

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes. In some cases, optic atrophy or more rarely retinitis pigmentosa is noted. We now report two sisters, the eldest of which presented to a different hospital during childhood with sensorineural deafness, which was treated with a hearing prosthesis, insulin requiring diabetes, retinitis pigmentosa, optic atrophy, and macrocytic anemia. These features initially suggested a clinical diagnosis of Wolfram syndrome (WS). Therapy with thi...
Source: Pediatric Diabetes - January 4, 2013 Category: Endocrinology Authors: Enza Mozzillo, Daniela Melis, Mariateresa Falco, Valentina Fattorusso, Roberta Taurisano, Sarah E Flanagan, Sian Ellard, Adriana Franzese Tags: Case Report Source Type: research

Nitrous oxide toxicity: technical and therapeutic aspects
We read the article by Hsu et al with great interest, and we would like to highlight certain information related to technical aspects, surrogate markers of vitamin B12 deficiency, and therapeutic aspects. The nitrous oxide (N2O) causes inactivation of vitamin B12 by the oxidation of Cob (I) alamin to Cob (III) alamin, which results in functional vitamin B12 deficiency. The neurologic manifestations occur following N2O abuse depends on vitamin B12 reserve . If the patients have adequate B12 store, symptoms develop after prolonged and/or repeated exposure. On the contrary, the patients with marginal B12 store or having risk ...
Source: The American Journal of Emergency Medicine - December 7, 2012 Category: Emergency Medicine Authors: Subramanian Senthilkumaran, Namasivayam Balamurugan, Ritesh G. Menezes, Ponniah Thirumalaikolundusubramanian Tags: Correspondence Source Type: research

Combined cobalamin and iron deficiency anemia: a diagnostic approach using a model based on age and homocysteine assessment
The objective of this work was to investigate the degree of overlap between iron deficiency anemia (IDA) and cobalamin deficiency and to develop a predictive model for differentiating IDA from combined deficiency. A prospective case and control study was carried out to investigate vitamin B12 and folate status in iron deficiency anemia. A total of 658 patients were recruited, 41 of whom (6.2 %) were excluded. The remaining 617 subjects consisted of 130 controls and 487 with IDA. Low vitamin B12 (LB12) was considered when serum vitamin B12 was ≤200 pmol/L. High serum homocysteine (Hcy) was defined by Hcy >...
Source: Annals of Hematology - November 27, 2012 Category: Hematology Tags: Annals of Hematology Source Type: research

Anemia after gastrectomy for early gastric cancer: Long-term follow-up observational study.
CONCLUSION: Anemia was frequent after gastrectomy for early gastric cancer, with iron deficiency being the major cause. Evaluation for anemia including iron status should be performed after gastrectomy and appropriate iron replacement should be considered. PMID: 23155340 [PubMed - in process] (Source: World Journal of Gastroenterology : WJG)
Source: World Journal of Gastroenterology : WJG - November 14, 2012 Category: Gastroenterology Authors: Lim CH, Kim SW, Kim WC, Kim JS, Cho YK, Park JM, Lee IS, Choi MG, Song KY, Jeon HM, Park CH Tags: World J Gastroenterol Source Type: research

Mechanism of intestinal folate transport during folate deficiency in rodent model.
In this study we evaluated the mechanistic insights of folate absorption in an in vivo model of folate deficiency. Methods: Male Wistar rats were fed folate-containing diet (2 mg/kg folic acid) or a folic acid-free diet over 3 months and folate transport was studied in intestinal brush border membrane vesicles (BBMV). Results: The characterization of the folate transport system in intestinal brush border membrane (BBM) suggested it to be a carrier mediated, acidic pH stimulated, and Na + independent. Folate deficiency increased the folate transport by altering the Vmax without changing the K m of folate transport process. ...
Source: The Indian Journal of Medical Research - November 1, 2012 Category: Biomedical Science Authors: Wani NA, Thakur S, Kaur J Tags: Indian J Med Res Source Type: research

Evaluation of Vitamin B12 Monitoring in a Veteran Population on Long-Term, High-Dose Metformin Therapy (November).
CONCLUSIONS:Vitamin B(12) was not routinely monitored in patients on high-dose metformin, even in those at highest risk (≥10 years of therapy), or in those with potential manifestations of vitamin B(12) deficiency (neuropathy). Cases of vitamin B(12) deficiency and resulting anemia or neuropathy may be undiagnosed and untreated because of lack of monitoring. Prospective studies examining the effect of increased vitamin B(12) monitoring on identification and treatment of vitamin B(12) deficiency in patients on metformin are warranted. PMID: 23115224 [PubMed - as supplied by publisher] (Source: The Annals of Pharmacotherapy)
Source: The Annals of Pharmacotherapy - October 31, 2012 Category: Drugs & Pharmacology Authors: Pierce SA, Chung AH, Black KK Tags: Ann Pharmacother Source Type: research

Folate Content and Composition of Vegetables Commonly Consumed in China
Abstract: Folate deficiency increases the risk of chronic diseases, including neural tube defects (NTDs) in infants, megaloblastic anemia, cardiovascular disease, and some cancers in adults. China is the most NTDs prevalent area in the world. Folate deficiency in China can be reduced by proper supply of fresh leafy green vegetables but little is known about the folate content and vitamers in the vegetables commonly consumed by Chinese population. The purposes of this study were first to analyze most commonly consumed important vegetables that contribute to folate intake in the Chinese population and second to estimate t...
Source: Journal of Food Science - October 1, 2012 Category: Food Science Authors: M. J. I. Shohag, Yanyan Wei, Ning Yu, Lingli Lu, Jie Zhang, Zhenli He, Johan Patring, Xiaoe Yang Source Type: research

Oral manifestation of gastrointestinal disease
Gastrointestinal diseases can lead to effects on oral mucosa because of secondary systemic alterations. In our case report, a 46-year-old Caucasian man was referred to Orocentro Piracicaba Dental School with a chief complaint of red patches on the tongue associated to burning sensation for one year. Oral examination revealed multiple areas of intense erythema scattered on the oral mucosa. Incisional biopsy was performed and showed subepithelial inflammatory infiltrate of mononuclear cells. Subsequently, constipation and gastric discomfort were related. Hematologic tests displayed a megaloblastic anemia and vitamin B12 defi...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - September 17, 2012 Category: ENT & OMF Tags: Abstracts presented at the Annual Meeting of the American Academy of Oral and Maxillofacial Pathology (AAOMP), June 22-27, 2012 Source Type: research

No Association between Diphyllobothrium pacificum Infection and Megaloblastic Anemia.
Abstract Twenty cases of Dyphillobothrium pacificum (fish tapeworm) infections were prospectively studied to determine whether this tapeworm is associated with megaloblastic anemia, as commonly reported for D. latum infections. The most frequent symptoms were fatigue and mild abdominal pain, which were identified in approximately 66.6% of the 18 patients interviewed. Fourteen patients received treatment with niclosamide and all were cured. The other six patients spontaneously eliminated the tapeworms. One patient, who also had chronic diabetes and gastric atrophy, had low vitamin B12 levels and megaloblastic anemia...
Source: The American Journal of Tropical Medicine and Hygiene - September 17, 2012 Category: Tropical Medicine Authors: Jimenez JA, Rodriguez S, Gamboa R, Rodriguez L, Garcia HH, for the Cysticercosis Working Group in Peru Tags: Am J Trop Med Hyg Source Type: research

Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome.
Abstract Diabetes mellitus may occur in children and adolescents as an independent disease, most frequently as autoimmune type 1 diabetes, or can coexist with other abnormalities. If diabetes coincides with other disorders occurring sequentially, a syndromic form of monogenic diabetes should be suspected. Thiamine-responsive megaloblastic anaemia (TRMA) syndrome is an example of a rare form of monogenic diabetes coexisting with anaemia and deafness. In the paper, we discuss clinical features and treatment of TRMA syndrome - a unique syndromic form of vitamin-dependent monogenic diabetes. The review might be useful ...
Source: Pediatric Endocrinology, Diabetes, and Metabolism - August 11, 2012 Category: Endocrinology Authors: Zmysłowska A, Młynarski W Tags: Pediatr Endocrinol Diabetes Metab Source Type: research

Clonogenic assays are of limited value in discriminating patients with myelodysplastic syndrome and patients with megaloblastic anemia.
PMID: 22236776 [PubMed - indexed for MEDLINE] (Source: Acta Haematologica)
Source: Acta Haematologica - August 8, 2012 Category: Hematology Authors: Marisavljevic D Tags: Acta Haematol Source Type: research

Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancy
Conclusion: This case underlines the importance of adequately controlling maternal vitamin B12 intake during pregnancy by means of supplementation which, in the case of vegan mothers, should be significantly greater than that usually given. Moreover, the supplementation should be continued during lactation in order to avoid the development of signs of deficiency that may be associated with persistent neurological problems in infants. The case also highlights the need to consider vitamin B12 deficiency in infants with severe anemia even if their hematological parameters do not indicate megaloblastic anemia because the conco...
Source: BMC Pediatrics - Latest articles - June 24, 2012 Category: Pediatrics Authors: Sophie GuezGabriella ChiarelliFrancesca MenniSimona SaleraNicola PrincipiSusanna Esposito Source Type: research

CD34+ megakaryocytes (≥30%) are associated with megaloblastic anaemia and non‐acute myeloid neoplasia
Conclusions: In complex BM cases, the presence of ≥30% CD34+ MKs constitutes a potentially useful diagnostic tool with which to distinguish non‐acute myeloid neoplasms and MBA from non‐MBA reactive conditions, for minimal additional cost. (Source: Histopathology)
Source: Histopathology - May 31, 2012 Category: Pathology Authors: Giovanni Insuasti‐Beltran, Nichole L Steidler, Huining Kang, Kaaren K Reichard Source Type: research

Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations
We present the first genuine central European descendent with combined heterozygote mutations in SLC19A2, an Austrian boy suffering from pancytopenia and non-type I diabetes. Both manifestations resolved completely under continuous oral thiamine supplementation. Our observation underlines that despite its rarity, TRMA must be considered as an important differential diagnosis in native central European patients with suggestive signs and symptoms. An early molecular genetic verification of the diagnosis provides a sound basis for a successful and simple treatment that helps to prevent severe sequelae. Content Type Jo...
Source: European Journal of Pediatrics - May 11, 2012 Category: Pediatrics Tags: European Journal of Pediatrics Source Type: research

An infant with Imersland-Gräsbeck syndrome.
Abstract The Imersland-Gräsbeck Syndrome (IGS) is a rare inherited disorder characterized by megaloblastic anemia due to a selective Vitamin B₁₂ malabsorption in association with mild proteinuria. This syndrome can be diagnosed and treated easily. Herein, we describe an infant with IGS as a rare etiology of growth retardation with diarrhea, vomiting and therapy-resistant proteinuria. PMID: 22569447 [PubMed - indexed for MEDLINE] (Source: Saudi Journal of Kidney Diseases and Transplantation)
Source: Saudi Journal of Kidney Diseases and Transplantation - May 1, 2012 Category: Urology & Nephrology Authors: Bulut IK, Mutlubas F, Mir S, Balkan C Tags: Saudi J Kidney Dis Transpl Source Type: research

Folate degradation due to ultraviolet radiation: possible implications for human health and nutrition
Folate is essential for human health in the prevention of megaloblastic anemia and neural tube birth defects and plays important roles in cardiovascular disease and cancer. Therefore, research into environmental factors that may impact folate status, such as solar ultraviolet (UV) radiation, is of great health significance. In vitro studies have shown that UV radiation can degrade folate and folic acid in human blood and this has been confirmed in several human studies. Despite these findings, there is a dearth of epidemiological research into investigating the relationship between folate status and the links to solar UV e...
Source: Nutrition Reviews - May 1, 2012 Category: Nutrition Authors: David C Borradale, Michael G Kimlin Source Type: research

An infant with Imersland-Grasbeck syndrome.
Abstract The Imersland-Gräsbeck Syndrome (IGS) is a rare inherited disorder characterized by megaloblastic anemia due to a selective Vitamin B 12 malabsorption in association with mild proteinuria. This syndrome can be diagnosed and treated easily. Herein, we describe an infant with IGS as a rare etiology of growth retardation with diarrhea, vomiting and therapy-resistant proteinuria. PMID: 22569447 [PubMed - in process] (Source: Saudi Journal of Kidney Diseases and Transplantation)
Source: Saudi Journal of Kidney Diseases and Transplantation - May 1, 2012 Category: Urology & Nephrology Authors: Bulut IK, Mutlubas F, Mir S, Balkan C Tags: Saudi J Kidney Dis Transpl Source Type: research

A dimorphic blood film as a sign of the onset of iron‐deficient erythropoiesis in megaloblastic anemia
(Source: American Journal of Hematology)
Source: American Journal of Hematology - April 4, 2012 Category: Hematology Authors: James Uprichard, Debra Dorling, Barbara J. Bain Tags: Morphology Update Source Type: research

Cobalamin and Folic Acid Status in Relation to the Etiopathogenesis of Pancytopenia in Adults at a Tertiary Care Centre in North India
Conclusion. Cobalamin deficiency was found to be more common in our setting and is largely underdiagnosed in the age of folate supplementation. Infectious diseases like tuberculosis, leishmaniasis, and increasingly HIV are important and treatable causes of pancytopenia. This is in contrast with the developed nations where the bulk of disease is due to malignancy or marrow aplasia. (Source: Journal of Nanomaterials)
Source: Journal of Nanomaterials - April 1, 2012 Category: Materials Science Source Type: research

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine‐responsive megaloblastic anaemia
Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic diagnosis. Thiamine‐responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia. Diabetes in this condition is well described in infancy but ...
Source: Pediatric Diabetes - February 27, 2012 Category: Endocrinology Authors: Charles Shaw‐SmithSarah E FlanaganAnn‐Marie PatchJuergen Grulich‐HennAbdelhadi M HabebKhalid HussainRenata PomahacovaKrystyna MatykaMohamed Abdullah,Andrew T HattersleySian Ellard Tags: Original Article Source Type: research

Clonogenic Assays Are of Limited Value in Discriminating Patients with Myelodysplastic Syndrome and Patients with Megaloblastic Anemia.
Abstract No abstract available. PMID: 22236776 [PubMed - as supplied by publisher] (Source: Acta Haematologica)
Source: Acta Haematologica - January 7, 2012 Category: Hematology Authors: Marisavljevic D Tags: Acta Haematol Source Type: research

Clonogenic Assays Are of Limited Value in Discriminating Patients with Myelodysplastic Syndrome and Patients with Megaloblastic Anemia
Acta Haematol 2012;127:118 (DOI:10.1159/000335295) (Source: Karger Publishers)
Source: Karger Publishers - January 6, 2012 Category: Cancer & Oncology Source Type: research

Right ventricular dysfunction in thiamine-responsive megaloblastic anaemia syndrome: a case report
Case A 20-year-old high school student was referred to our hospital with a diagnosis of Ebstein anomaly. He was the first child of consanguineous parents of Arab descent and was deaf and mute since he was 12 months old. At 18 months, he had been evaluated because of his pallor and increasing weakness, by which megaloblatic anaemia was noted. Considering bilateral sensorineural deafness, megaloblastic anaemia and mild hyperglycaemia, he was diagnosed as having thiamine-responsive megaloblastic anaemia (TRMA) syndrome. He has been receiving thiamine and folic acid since 18 months of age. There had been no overt dia...
Source: Heart Asia - December 2, 2011 Category: Cardiology Authors: Saedi, S., Maleki, M., Pezeshki, S. Tags: Images in cardiovascular medicine Source Type: research

Update and new concepts in vitamin responsive disorders of folate transport and metabolism
Abstract Derivatives of folic acid are involved in transfer of one-carbon units in cellular metabolism, playing a role in synthesis of purines and thymidylate and in the remethylation of homocysteine to form methionine. Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in the gene encoding the proton-coupled folate transporter (SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methi...
Source: Journal of Inherited Metabolic Disease - November 22, 2011 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: research

Drug-Induced Anemia and other Red Cell Disorders: A Guide in the Age of Polypharmacy.
Abstract Several medications have been linked to red blood cell (RBC) disorders. The frequency of these side effects varies, depending on the condition, but they can be associated with significant morbidity and mortality. The problem is likely to exacerbate in aging populations with frequent comorbidities, proportional to the growing number of medications used. Notable drug-related RBC disorders include hemolytic anemia, megaloblastic anemia, sideroblastic anemia, polycythemia, methemoglobinemia, anemia of irritation/inflammation, and anemia caused by suppression of red blood cell production. The list of medication...
Source: Current Clinical Pharmacology - November 11, 2011 Category: Drugs & Pharmacology Authors: Shander A, Javidroozi M, Ashton ME Tags: Curr Clin Pharmacol Source Type: research

Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia
Conclusions: Al‐Madinah region has the highest reported incidence of PNDM worldwide. In this region with high consanguinity, PNDM has different genetic aetiology and in the majority of cases presents as a part of rare familial autosomal‐recessive syndrome rather than in isolation. (Source: Pediatric Diabetes)
Source: Pediatric Diabetes - November 8, 2011 Category: Endocrinology Authors: Abdelhadi M HabebMohamed SF Al‐MagamsiIhsan M EidMohamed I AliAndrew T HattersleyKhalid HussainSian Ellard Source Type: research

Orofacial manifestations of hematological disorders: Anemia and hemostatic disorders
Titilope A Adeyemo, Wasiu L Adeyemo, Adewumi Adediran, Abd Jaleel A Akinbami, Alani S AkanmuIndian Journal of Dental Research 2011 22(3):454-461The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial man...
Source: Table of Contents : Indian Journal of Dental Research : 2006 - 17(3) - November 3, 2011 Category: Dentistry Authors: Titilope A AdeyemoWasiu L AdeyemoAdewumi AdediranAbd Jaleel A AkinbamiAlani S Akanmu Source Type: research

CD34 Staining Useful in Bone Marrow AnalysesCD34 Staining Useful in Bone Marrow Analyses
Samples with a presence of CD34+ megakaryocytes at 30% or higher are a strong indicator of megaloblastic anemia or a myeloid neoplasm. Medscape Medical News (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - October 24, 2011 Category: Consumer Health News Tags: Pathology & Lab Medicine News Source Type: news

Vitamin B12 deficiency in a 9-month-old boy
Conclusion: Further studies should be conducted to evaluate the optimal oral dosage of vitamin B12 in children since limited data on the use of oral B12 substitution are available. Content Type Journal ArticleCategory Case ReportPages 1-3DOI 10.1007/s00431-011-1577-4Authors Christine Quentin, Department of Hematology and Oncology, Université Libre de Bruxelles (ULB), Queen Fabiola Children’s Hospital, Avenue J. J. Crocq 15, 1020 Brussels, BelgiumSophie Huybrechts, Department of Hematology and Oncology, Université Libre de Bruxelles (ULB), Queen Fabiola Children’s Hospital, Avenue J. J. Crocq 15, 1020 Brussels...
Source: European Journal of Pediatrics - September 23, 2011 Category: Pediatrics Tags: European Journal of Pediatrics Source Type: research

Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review
We report on the outcome of a patient with cblF disease with a frameshift mutation in the LMBRD1 gene after 18 years of intramuscular hydroxycobalamin treatment. © 2011 Wiley‐Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 9, 2011 Category: Genetics & Stem Cells Authors: Majid AlfadhelYolanda P. LillquistCynthia DavisAnne K. JunkerSylvia Stockler‐Ipsiroglu Tags: Clinical Report Source Type: research

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
Conclusion This patient represents the first case of an inborn error of folate metabolism affecting the trifunctional MTHFD1 protein. This report reinforces the power of exome capture and sequencing for the discovery of novel genes, even when only a single proband is available for study. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 22, 2011 Category: Genetics & Stem Cells Authors: Watkins, D., Schwartzentruber, J. A., Ganesh, J., Orange, J. S., Kaplan, B. S., Nunez, L. D., Majewski, J., Rosenblatt, D. S. Tags: Molecular genetics, Immunology (including allergy) Exomes Source Type: research

Refractory Pancytopenia and Megaloblastic Anemia due to Falciparum Malaria
We present a case with refractory megaloblastic anemia with asymptomatic falciparum malaria. We hypothesize that promoter variants in the inducible nitric oxide synthase gene might be the cause of severe refractory megaloblastic anemia and pancytopenia in our patient. Malaria should always be kept in mind as a cause of anemia especially in endemic areas even if the child is asymptomatic or there is no demonstrable parasite on routine smear examination. (Source: Journal of Tropical Pediatrics)
Source: Journal of Tropical Pediatrics - July 27, 2011 Category: Tropical Medicine Authors: Aggarwal, V., Maheshwari, A., Rath, B., Kumar, P., Basu, S. Tags: Brief Reports Source Type: research

Pancytopenia due to pyrimethamine triggered by transplant-associated microangiopathy after allogeneic bone marrow transplantation
Abstract Toxoplasmosis is one of the life-threatening infections that can occur after hematopoietic stem cell transplantation (HSCT) and also solid organ transplantation. The standard treatment for toxoplasmosis is combination therapy with pyrimethamine and sulfadiazine, both of which inhibit folate metabolism. Therefore, therapy with these agents could result in marrow toxicity including megaloblastic anemia or pancytopenia, which is reversible or preventable with folate supplementation. Transplant-associated microangiopathy (TAM) is another situation where folate is required to compensate for increased ery...
Source: Journal of Infection and Chemotherapy - June 15, 2011 Category: Infectious Diseases Tags: Journal of Infection and Chemotherapy Source Type: research

Update on vitamin B12 deficiency.
Vitamin B12 (cobalamin) deficiency is a common cause of megaloblastic anemia, a variety of neuropsychiatric symp- toms, and elevated serum homocysteine levels, especially in older persons. There are a number of risk factors for vitamin B12 deficiency, including prolonged use of metformin and proton pump inhibitors. No major medical orga- nizations, including the U.S. Preventive Services Task Force, have published guidelines on screening asymptomatic or low-risk adults for vitamin B12 deficiency, but high-risk patients, such as those with malabsorptive disorders, may warrant screening. The initial laboratory assessment ...
Source: American Family Physician - June 14, 2011 Category: Primary Care Authors: Langan RC, Zawistoski KJ Tags: Am Fam Physician Source Type: research

Megaloblastic Anemia—A Rare Cause
Abstract A 2- year- old boy presented with non responsive megaloblastic anemia, growth failure and developmental delay. Blood levels of B12, folic acid and iron were normal. Tandem mass spectroscopy for common inborn errors of metabolism did not reveal any abnormality. There was an increased excretion of orotic acid in urine. The authors report this as a rare cause of megaloblastic anemia. Content Type Journal ArticlePages 1-3DOI 10.1007/s12098-011-0461-6Authors Sanjib Kr Debnath, Department of Pediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, New Delhi, IndiaAnju Aggarw...
Source: Indian Journal of Pediatrics - June 1, 2011 Category: Pediatrics Tags: Indian Journal of Pediatrics Source Type: research

Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency
SummaryA 19‐year‐old university student with no personal or family history of neurologic disorders developed convulsions and was administered phenytoin. Two months later, he developed lower limb–dominant acute demyelinating polyneuropathy, from which he recovered within 2 months. At age 20, he rapidly developed visual disturbances and paraplegia from phenytoin intoxication. Cranial magnetic resonance imaging (MRI) revealed leukoencephalopathy with no evidence of thrombosis or vasoconstriction. Hyperhomocysteinemia, hypomethioninemia, low serum folate concentration, and an absence of megaloblastic anemia were consis...
Source: Epilepsia - April 10, 2011 Category: Neurology Authors: Motomi AraiHitoshi Osaka Tags: BRIEF COMMUNICATION Source Type: research

A randomised controlled trial investigating the effect of vitamin B12 supplementation on neurological function in healthy older people: the Older People and Enhanced Neurological function (OPEN) study protocol [ISRCTN54195799]
Conclusions: In view of the high prevalence of vitamin B12 deficiency in later life, the present trial could have considerable significance for public health. (Source: Nutrition Journal)
Source: Nutrition Journal - March 10, 2011 Category: Nutrition Authors: Alan DangourElizabeth AllenRobert ClarkeDiana ElbourneNicky FaseyAstrid FletcherLouise LetleyMarcus RichardsKen WhyteKerry MillsRicardo Uauy Source Type: research

Thiamine Responsive Megaloblastic Anemia in Three Indian Children
Content Type Journal ArticlePages 1-2DOI 10.1007/s12098-011-0378-0Authors Vykunta Raju K. N. Gowda, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029 IndiaShivananda, Indira Gandhi Institute of Child Health, Bangalore, Karanataka IndiaGovindaraj M., Indira Gandhi Institute of Child Health, Bangalore, Karanataka IndiaNaveen Sankhyan, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029 India Journal Indian Journal of PediatricsOnline ISSN 0973-7693Print ISSN 0019-5456 (Source: Indian Journal of Pediatrics)
Source: Indian Journal of Pediatrics - February 21, 2011 Category: Pediatrics Tags: Indian Journal of Pediatrics Source Type: research