An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in requiring reinterpretation.

Although thrombocytopenia in neonatal intensive care patients is rarely due to inherited disorders, the number of genetic variants implicated in platelet defects has grown dramatically with increasing genome-wide sequencing. Here we describe a case of severe, oligogenic neonatal thrombocytopenia and reinterpret a reportedly benign mutation that is likely pathogenic. Despite this patient's synonymous mutation ( 576 C>T, Phe192=) being annotated as benign, GFI1B is a well-known regulator of megakaryopoiesis, this variant alters splicing and megakaryocyte maturation, and our analysis of existing genome-wide associated studies demonstrates that it likely causes gray platelet syndrome.

Serum Ferritin Threshold for Iron Deficiency Screening in One-Year-Old Children.

The American Academy of Pediatrics recommends universal hemoglobin screening for iron deficiency anemia using hemoglobin <110 g/L at the 1-year-old well child visit. Our retrospective study suggests the need for combined hemoglobin and serum ferritin iron deficiency screening and raising the diagnostic serum ferritin threshold to 24-25 μg/L.

Complex confounder-corrected R2* mapping for liver iron quantification with MRI.

Objectives: MRI-based R2* mapping may enable reliable and rapid quantification of liver iron concentration (LIC). However, the performance and reproducibility of R2* across acquisition protocols remain unknown. Therefore, the objective of this work was to evaluate the performance and reproducibility of complex confounder-corrected R2* across acquisition protocols, at both 1.

Isobaric Labeling Strategy Utilizing 4-Plex ,-Dimethyl Leucine (DiLeu) Tags Reveals Proteomic Changes Induced by Chemotherapy in Cerebrospinal Fluid of Children with B-Cell Acute Lymphoblastic Leukemia.

The use of mass spectrometry for protein identification and quantification in cerebrospinal fluid (CSF) is at the forefront of research efforts to identify and explore biomarkers for the early diagnosis and prognosis of neurologic disorders. Here we implemented a 4-plex ,-dimethyl leucine (DiLeu) isobaric labeling strategy in a longitudinal study aiming to investigate protein dynamics in children with B-cell acute lymphoblastic leukemia (B-cell ALL) undergoing chemotherapy. The temporal profile of CSF proteome during chemotherapy treatment at weeks 5, 10-14, and 24-28 highlighted many differentially expressed proteins, such as neural cell adhesion molecule, neuronal growth regulator 1, and secretogranin-3, all of which play important roles in neurodegenerative diseases.

Association of Immune Thrombocytopenia and T-Lymphoblastic Lymphoma in a Pediatric Patient.

Immune thrombocytopenia (ITP) is characterized by isolated thrombocytopenia of unclear etiology. We present a unique case of an 8-year-old girl with chronic ITP who was subsequently diagnosed with T-lymphoblastic lymphoma at age 11. The clinical course was complicated by the occurrence of nonepileptiform events with bizarre behavior changes following the administration of nelarabine and intrathecal and high-dose systemic methotrexate.

Improving Rates of Screening for Anemia in Infancy.

In 2010, the American Academy of Pediatrics recommended universal screening for anemia at approximately 1 year of age. This quality improvement study sought to improve anemia screening in an ambulatory setting. In a large university-based setting, a best practice alert (BPA) was placed within the electronic health record.