Biermer's disease unveiled: Bilateral macular hemorrhage as a rare manifestation-A case report. [PDF]
The patient, a 30-year-old woman, presented with a sudden, painless, and severe decrease in vision in both eyes. The ophthalmological examination revealed a normal anterior segment and intraocular pressure, but a fundus examination showed bilateral ...
Sara BAI+6 more
europepmc +2 more sources
Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High-Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in Taiwan. [PDF]
ABSTRACT In this report, we present the case of a 16‐month‐old patient who was diagnosed with cobalamin G deficiency at 4 months of age via whole exome sequencing by detecting compound heterozygous variants of uncertain significance (VUS) in the MTR gene: (1) c.1283T>A, p.Met428Lys; (2) c.2411T>C, p.Ile804Thr. Before the diagnosis, the initial clinical
Wu CT, Huang SJ, Chen CC, Chiu PC.
europepmc +2 more sources
Severe megaloblastic anemia in a patient with advanced lung adenocarcinoma during treatment with erlotinib: a case report and literature review. [PDF]
Background Erlotinib is a first-generation, tyrosine kinase inhibitor of the epidermal growth factor receptor (EGFR-TKI) used for the treatment patients with NSCLC.
Yan X, Kong J, Wang J, Wang C, Shen H.
europepmc +2 more sources
Role of LDH levels in differentiating anemias
Background: There is a need to differentiate megaloblastic anemia from mixed deficiency anemia as both require different management protocols. With the acquisition of more information about them, tests such as serum vitamin estimation and Schilling test,
Noorin Zaidi +4 more
doaj +1 more source
Massive Splenomegaly: A Rare Presentation of Megaloblastic Anemia
Megaloblastic anemia is a common disorder with various manifestations. Of the many causes, cobalamin or folate deficiency can eventuate into megaloblastic anemia.
Tahereh Gholipour+4 more
doaj +1 more source
MEGALOBLASTIC ANEMIA IN CHILDREN: CASE SERIES FROM A SINGLE INSTITUTION AND LITERATURE REVIEW [PDF]
Folic acid and cobalamin are B-group vitamins that play an essential role in many cellular processes. Deficiency in one or both of these vitamins causes megaloblastic anemia, a very rare anemia in children, which is characterized by the presence of ...
Andreea Oltean+4 more
doaj +1 more source
Megaloblastic anemia associated with small bowel resection in an adult patient
Megaloblastic anemia is characterized by macro-ovalocytosis, cytopenias, and nucleocytoplasmic maturation asynchrony of marrow erythroblast. The development of megaloblastic anemia is usually insidious in onset, and symptoms are present only in severely ...
Ajayi Adeleke Ibijola+1 more
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Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia [PDF]
Background: Autosomal recessive primary microcephaly-2 (MCPH2) is a rare genetic disorder with clinical and genetic heterogeneity. This study aimed to perform high-throughput whole-exome sequencing (WES) to facilitate the diagnosis of the genetic ...
Tahereh Dianat+3 more
doaj +1 more source
Is it possible to obtain reliable estimates for the prevalence of anemia and childhood stunting among children under 5 in the poorest districts in Peru? [PDF]
In this article we describe and apply the Fay-Herriot model with spatially correlated random area effects (Pratesi, M., & Salvati, N. (2008)), in order to predict the prevalence of anemia and childhood stunting in Peruvian districts, based on the data from the Demographic and Family Health Survey of the year 2019, which collects data about anemia and ...
arxiv +1 more source
Vitamin B12 deficiency is seen in countries like India mainly because of predominantly vegetarian diet and is a significant health problem. Patients present with various neurological and hematological manifestations of megaloblastic anemia.
Kapil Bhalla+4 more
doaj +1 more source