Use of infusion ports in patients with sickle cell disease: Indications and complications.

Background: Peripheral venous access in patients with sickle cell disease (SCD) can become difficult over time due to frequent access and scarring. Infusion ports provide reliable central venous access. Deep venous thrombosis (DVT) and infections are complications associated with SCD and infusion ports.

mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare metabolic disorder characterized by developmental delay, hypotonia, and bi-allelic mutations in D-2-hydroxyglutarate dehydrogenase or a single gain-of-function mutation in isocitrate dehydrogenase 2 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) is a type of D-2-HGA that has been previously reported in ten patients (OMIM 614875), three of whom had somatic mosaicism for R132 variants in isocitrate dehydrogenase 1 (). We describe a 3-year-old boy with MC-HGA who subsequently developed acute myeloid leukemia (AML) and was found to have an R132C mutation in a leukemic bone marrow sample. Further testing revealed presence of somatic mosaicism for R132C variant, suggesting an association of in inducing myeloid leukemogenesis.

Tackling Acute Lymphoblastic Leukemia-One Fish at a Time.

Despite advancements in the diagnosis and treatment of acute lymphoblastic leukemia (ALL), a need for improved strategies to decrease morbidity and improve cure rates in relapsed/refractory ALL still exists. Such approaches include the identification and implementation of novel targeted combination regimens, and more precise upfront patient risk stratification to guide therapy. New curative strategies rely on an understanding of the pathobiology that derives from systematically dissecting each cancer's genetic and molecular landscape.

Splenectomy is not associated with a higher tricuspid regurgitant jet velocity in people with sickle cell anemia.

Background: Vascular complications such as pulmonary hypertension (PH) occur at an increased rate following splenectomy in patients with various hemolytic blood disorders including thalassemia. The goal of this retrospective cross-sectional analysis was to assess the independent association of splenectomy with an elevated tricuspid regurgitation velocity (TRV) in people with homozygous sickle cell disease (HbSS). TRV is a noninvasive screening test for PH and a surrogate marker of prognosis in sickle cell disease (SCD).