Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish.

Mutations in the DNAJC21 gene were recently described in Shwachman-Diamond syndrome (SDS), a bone marrow failure syndrome with high predisposition for myeloid malignancies. To study the underlying biology in hematopoiesis regulation and disease, we generated the first in vivo model of Dnajc21 deficiency using the zebrafish. Zebrafish dnajc21 mutants phenocopy key SDS patient phenotypes such as cytopenia, reduced growth, and defective protein synthesis.

Paediatric reference intervals and curves for haemoglobin and ferritin: protocol for a systematic review and meta-analysis.

Introduction: Reference intervals and reference curves provide clinicians with a point of reference when evaluating patients' laboratory test results. In practical applications, the 2.5th and 97.

Severe iron deficiency anemia in the paediatric emergency department: A retrospective study.

Background: Transfusion is discouraged in hemodynamically stable children with severe iron deficiency anemia (IDA). Intravenous (IV) iron sucrose (IS) could be an alternative for some patients; however, there is a paucity of data on its use in the paediatric emergency department (ED).

Methods: We analyzed patients presenting with severe IDA at the Children's Hospital of Eastern Ontario (CHEO) ED between September 1, 2017, and June 1, 2021.

Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature.

Congenital dyserythropoietic anemia type IV (CDAIV) is a rare inherited hematological disorder, presenting with severe anemia due to altered erythropoiesis and hemolysis, with variable needs for recurrent transfusions. We present a case of a transfusion-dependent male newborn who presented at birth with severe hemolytic anemia, and required an intrauterine transfusion. Genetic testing rapidly identified a Kruppel-like factor 1 (KLF1) pathogenic variant (c.

The expense of sending cerebrospinal fluid for analysis on all lumbar punctures in pediatric acute lymphoblastic leukemia patients.

Background: Central nervous system (CNS) relapse in pediatric acute lymphoblastic leukemia (ALL) patients is uncommon. The cerebrospinal fluid (CSF) of patients with ALL is routinely sampled at each intrathecal chemotherapy treatment to screen for CNS relapse. The analysis of CSF is both time consuming and resource intensive and must be completed approximately 20 times per patient throughout treatment.

Stress hematopoiesis induces a proliferative advantage in TET2 deficiency.

TET2 loss-of-function mutations are recurrent events in a wide range of hematological malignancies and a physiologic occurrence in blood cells of healthy older adults. It is currently unknown what determines if a person harboring a somatic TET2 mutation will progress to myelodysplastic syndrome or acute myeloid leukemia. Here we develop a zebrafish tet2 mutant through which we show that tet2 loss leads to restricted hematopoietic differentiation combined with a modest upregulation of p53, which is also characteristic of many inherited bone marrow failure syndromes.

Effects of metformin versus placebo on vitamin B12 metabolism in non-diabetic breast cancer patients in CCTG MA.32.

Background: Metformin is associated with low levels of vitamin B12 (VitB12) in patients with diabetes. The CCTG/MA.32 trial investigates the effects of metformin vs placebo on breast cancer (BC) outcomes in non-diabetic high-risk BC patients.

Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation.

Advanced myelodysplastic syndrome harbors a high risk of progression to acute myeloid leukemia and poor prognosis. In children, there is no established treatment to prevent or delay progression to leukemia prior to hematopoietic stem cell transplantation. Azacitidine is a hypomethylating agent, which was shown to slow progression to leukemia in adults with myelodysplastic syndrome.

BK virus-associated hemorrhagic cystitis presenting as mural nodules in the urinary bladder after hematopoietic stem cell transplantation.

We report an unusual sonographic presentation of late-onset hemorrhagic cystitis caused by BK virus infection in an 8-year-old who had undergone hematopoietic stem cell transplantation for treatment of relapsed acute lymphoblastic leukemia. Sonography showed the presence of multiple bladder nodules in a background of diffuse bladder wall thickening. The dominant bladder nodule showed increase in size on serial sonograms and was vascularized on Doppler interrogation.