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megaloblastic anaemia

Abdelhadi M Habeb, Sarah E Flanagan, Mohamed A Zulali, Mohamed A Abdullah, Renata Pomahačová, Veselin Boyadzhiev, Lesby E Colindres, Guillermo V Godoy, Thiruvengadam Vasanthi, Ramlah Al Saif, Aria Setoodeh, Amirreza Haghighi, Alireza Haghighi, Yomna Shaalan, Andrew T Hattersley, Sian Ellard, Elisa De Franco
AIMS/HYPOTHESIS: Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B1 ) in a cohort of individuals with TRMA-related diabetes. METHODS: We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical details were collected through a follow-up questionnaire...
May 2018: Diabetologia
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
Deba Prasad Dhibar, Kamal Kant Sahu, Jitender Jinagal, Sanjay Jain, Subhash Chander Varma
No abstract text is available yet for this article.
January 2018: Postgraduate Medical Journal
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
Shashank Reddy Cingam, Nebu Koshy, Diana Veillon, Prakash Peddi
Severe vitamin B12 deficiency is well known to cause morphological alterations in bone marrow. In rare instances, these myelodysplastic and megaloblastic changes can coexist with cytogenetic abnormalities. Here, we report a case of a 38-year-old African-American woman with pernicious anaemia, who was found to have an isolated 20q deletion and which resolved after vitamin B12 replacement. We also discuss various mechanisms in which vitamin B12 deficiency can lead to chromosomal abnormalities. A literature review is also performed to evaluate various other chromosomal aberrations associated with B12 deficiency...
March 8, 2017: BMJ Case Reports
Cyril Jabea Ekabe, Jules Kehbila, Martin Hongieh Abanda, Benjamin Momo Kadia, Carlson-Babila Sama, Gottlieb Lobe Monekosso
BACKGROUND: Vitamin B12 deficiency is a metabolic disorder with many causes. It often presents with megaloblastic anaemia and neurological disorders which entail prompt treatment. The diagnosis of Vitamin B12 deficiency is challenging in resource limited-settings due to limited access to diagnostic tools and unfamiliarity with the disease, owing to its rarity especially in young people. CASE PRESENTATION: A 28 year old female Cameroonian presented with progressive burning painful sensations on the upper trunk, paraesthesia and numbness of the upper and lower limbs for a period of 5 years...
January 28, 2017: BMC Research Notes
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
Neha Chopra Narang, Mrinalini Kotru, Kavana Rao, Meera Sikka
No abstract text is available yet for this article.
December 1, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
Sedigheh Saedi, Majid Maleki, Sepideh Pezeshki
No abstract text is available yet for this article.
2011: Heart Asia
Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, Laura Martí-Sánchez, Pilar Rodriguez-Pombo, Rafael Artuch, Belén Pérez-Dueñas
INTRODUCTION: Thiamine is a key cofactor for energy metabolism in brain tissue. There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes. Neurological involvement predominates in three of them (SLC19A3, SCL25A19 and TPK1), whereas patients with SLC19A2 mutations mainly present extra-neurological features (e.g. diabetes mellitus, megaloblastic anaemia and sensori-neural hearing loss)...
July 2016: Expert Review of Neurotherapeutics
Dominic J Harrington
The detection and correction of vitamin B12 (B12) deficiency prevents megaloblastic anaemia and potentially irreversible neuropathy and neuropsychiatric changes. B12 status is commonly estimated using the abundance of the vitamin in serum, with ∼148 pmol/L (200 ng/L) typically set as the threshold for diagnosing deficiency. Serum B12 assays measure the sum of haptocorrin-bound and transcobalamin-bound (known as holotranscobalamin) B12 It is only holotranscobalamin that is taken up by cells to meet metabolic demand...
February 2017: Journal of Clinical Pathology
A G Kleinerüschkamp, K Zacharowski, C Ettwein, M M Müller, C Geisen, C F Weber, P Meybohm
BACKGROUND: Patient blood management (PBM) is a multidisciplinary approach focusing on the diagnosis and treatment of preoperative anaemia, the minimisation of blood loss, and the optimisation of the patient-specific anaemia reserve to improve clinical outcomes. Economic aspects of PBM have not yet been sufficiently analysed. OBJECTIVES: The aim of this study is to analyse the costs associated with the clinical principles of PBM and the project costs associated with the implementation of a PBM program from an institutional perspective...
June 2016: Der Anaesthesist
Manish Bhagat, Sujata Kanhere, Purvi Kadakia, Varsha Phadke, Riya George, Kushagra Chaudhari
A 5-year-old immunocompetent girl presented with fever, jaundice, hepatosplenomegaly and pancytopenia. The peripheral blood smear demonstrated mixed malaria infection (Plasmodium vivax and Plasmodium falciparum). Fever was persistent despite antimalarials in the absence of any coexisting bacterial or viral infection. Laboratory findings included cytopaenia, hyperbilirubinaemia, hyperferritinaemia, hypertriglyceridaemia, hyponatraemia, deranged partial thromboplastin time, decreasing ESR and megaloblastic changes on bone marrow aspiration...
2015: Paediatrics and International Child Health
Dissanayake Mudiyanselage Priyantha Udaya Kumara Ralapanawa, Kushalee Poornima Jayawickreme, Ekanayake Mudiyanselage Madhushanka Ekanayake, Widana Arachchilage Thilak Ananda Jayalath
BACKGROUND: Vitamin B12 deficiency is often diagnosed with hematological manifestations of megaloblastic macrocytic anemia, which is usually the initial presentation. Neurological symptoms are often considered to be late manifestations and usually occur after the onset of anemia. Sub acute combined cord degeneration, which is a rare cause of myelopathy is however the commonest neurological manifestation of vitamin B12 deficiency. CASE PRESENTATION: We present a case of a 66 year old Sinhalese Sri Lankan female, who is a strict vegetarian, presenting with one month's history suggestive of Sub-acute combined cord degeneration in the absence of haematological manifestations of anaemia...
2015: BMC Research Notes
Kawther El-Shafie, Nafisa Samir, Ritu Lakhtakia, Robin Davidson, Ahmed Al-Waili, Muna Al-Mamary, Mohammed Al-Shafee
Vitamin B12 deficiency is common in developing countries and should be suspected in patients with unexplained anaemia or neurological symptoms. Dermatological manifestations associated with this deficiency include skin hyper- or hypopigmentation, angular stomatitis and hair changes. We report a case of a 28-year-old man who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in November 2013 with localised hyperpigmentation of the palmar and dorsal aspects of both hands of two months' duration...
August 2015: Sultan Qaboos University Medical Journal
P Wainwright, S Narayanan, P Cook
Pernicious anaemia is a common autoimmune disorder with a prevalence of approximately 4% amongst Europeans. If untreated, it can result in permanent neurological disability or death. Central to the diagnosis is establishing the presence of vitamin B12 deficiency. Concern has been raised recently regarding false-normal results obtained with competitive-binding vitamin B12 assays performed on automated biochemistry platforms in patients with pernicious anaemia due to the presence of interfering anti-intrinsic factor antibodies in the patient sample...
December 2015: Clinical Biochemistry
Sophia Tahir, Lieve Gj Leijssen, Maha Sherif, Carla Pereira, Anabela Morais, Khalid Hussain
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading to a premature stop codon. The patient's diabetes and anaemia showed a good response to daily thiamine doses, reducing the daily insulin dose requirement...
2015: International Journal of Pediatric Endocrinology
Subrata Chakrabarti
Megaloblastic anaemia as a cause of pyrexia is a rare entity. Similarly, hyperpigmentation of skin has rarely been reported as the presenting manifestation of folate and/or vitamin B12 deficiency. The author reports the case of a patient who presented with fever and hyperpigmentation and was diagnosed to have megaloblastic anaemia secondary to vitamin B12 and folate deficiency after other infective, inflammatory/autoimmune, endocrine causes of pyrexia and hyperpigmentation were excluded by appropriate investigations...
January 2015: Journal of Clinical and Diagnostic Research: JCDR
Oriol Calvete, Jose Reyes, Sheila Zuñiga, Beatriz Paumard-Hernández, Victoria Fernández, Luís Bujanda, María S Rodriguez-Pinilla, Jose Palacios, Damian Heine-Suñer, Siddharth Banka, William G Newman, Marta Cañamero, D Mark Pritchard, Javier Benítez
Gastric neuroendocrine tumours (NETs) arise from enterochromaffin-like cells, which are located in oxyntic glands within the stomach. Type I tumours represent 70-80% of gastric NETs and are associated with hypergastrinaemia, chronic atrophic gastritis and achlorhydria. Gastrin is involved in the endocrine regulation of gastric acid production. Most type I gastric NETs are sporadic, have a good prognosis and their genetic basis are unknown. We performed an exome sequencing study in a family with consanguineous parents and 10 children, five of whom were affected by type I gastric NET...
May 15, 2015: Human Molecular Genetics
P Burda, A Kuster, O Hjalmarson, T Suormala, C Bürer, S Lutz, G Roussey, L Christa, J Asin-Cayuela, G Kollberg, B A Andersson, D Watkins, D S Rosenblatt, B Fowler, E Holme, D S Froese, M R Baumgartner
In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity. To date, only one patient with MTHFD1 deficiency, presenting with hyperhomocysteinemia, megaloblastic anaemia, hemolytic uremic syndrome (HUS) and severe combined immunodeficiency, has been identified (Watkins et al J Med Genet 48:590-2, 2011). We now describe four additional patients from two different families...
September 2015: Journal of Inherited Metabolic Disease
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