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(Megaloblastic Anemia)
8,470 results
  • The effects of granulocyte colony-stimulating factors (G-CSFs) in leucocytes. [Journal Article]
    Hematol Oncol Stem Cell Ther 2019Barros Pinto MP, Marques G
  • Granulocyte colony-stimulating factors may be responsible for a set of laboratory findings in the peripheral blood film that may be confused with those associated with important diseases like myeloproliferative neoplasms, infection, or megaloblastic anaemia. We present a case report of a 29-year-old woman where these laboratory findings are described.
  • Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation. [Case Reports]
    JIMD Rep 2019; 49(1):43-47Ciancio JIR, Furman M, … Grunewald S
  • Imerslund-Grasbeck syndrome (IGS, OMIM 261100) is a rare autosomal recessive disease characterized by vitamin B12 malabsorption resulting in megaloblastic anemia and asymptomatic proteinuria. IGS is caused by bi-allelic mutations in either CUBN or AMN that respectively encode the cubilin and amnionless subunits of the cobalamin-intrinsic factor receptor. We report four siblings (three boys, one g…
  • Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm. [Journal Article]
    BMC Nephrol 2019; 20(1):330Jayasinghe K, White SM, … Quinlan C
  • CONCLUSIONS: CUBN mutations have been implicated as a hereditary cause of megaloblastic anaemia and variable proteinuria. This is the second reported family with isolated proteinuria due to biallelic CUBN variants in the absence of megaloblastic anaemia, demonstrating the ability of genomic testing to identify genetic causes of nephropathy within expanding associated phenotypic spectra. Genomic sequencing, undertaken earlier in the diagnostic trajectory, may reduce the need for invasive investigations and the time to definitive diagnosis for patients and families.
  • Pernicious Anemia Presenting as Non-ST-elevated Myocardial Infarction and Depression. [Case Reports]
    Cureus 2019; 11(6):e4870Iftikhar H, Saleem M, Kaji A
  • Pernicious anemia (PA) is a common cause of megaloblastic anemia throughout the world, especially in Northern European whites. This disease is characterized by the deficiency of vitamin B12 due to the presence of anti-intrinsic factor and anti-parietal cell antibodies which inhibit the absorption of the vitamin B12. In cases of severe vitamin B12 deficiency, patients can suffer debilitating compl…
  • [IMERSLUND-GRÄSBECK SYNDROME CONGENITAL FORM OF VITAMIN B12 DEFICIENCY ANEMIA]. [Journal Article]
    Georgian Med News 2019; (290):45-48Kvezereli-Kopadze M, Mtvarelidze Z
  • Normal red blood cells maturation depends on many different hematological factors, including vitamin (vit.) B12. Megaloblastic anemias are basically caused by vit. B12 deficiency. In childhood the deficiency of this vitamin is extremely rare. The article captures findings of observation of the patient with rare form congenital vit. B12 deficiency anemia - Imerslund-Gräsbeck syndrome. The disease …
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