ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.

The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance. Some ABC transporters are involved in functions such as the transport of chloride ions, bilirubin, reproductive hormones, cholesterol, and iron. Consequently, genetic or physiological disruption in these functions is manifested in various disease processes like cystic fibrosis, Tangier disease, and sideroblastic anemia.

The role of donor type and pre-transplant immunosuppression on outcomes of hematopoietic stem cell transplantation in children and young adults with severe aplastic anemia.

Background: The goal of this study was to assess the effect of donor type and pre-transplant immunotherapy (IST) on outcomes of hematopoietic stem cell transplantation (HSCT) for children and young adults with severe aplastic anemia (SAA).

Methods: This retrospective, multi-center study included 52 SAA patients, treated in 5 pediatric transplant programs in Florida, who received HSCT between 2010 and 2020 as the first- or second-line treatment.

Results: The median age at HSCT for all 52 patients was 15 years (range 1-25).

Promise of Composite Pain Index as a single pain outcome for sickle cell disease across the lifespan.

Background: This study aimed to validate a Composite Pain Index (CPI) as a single pain outcome measure for sickle cell disease (SCD) across the lifespan from 8 years of age.

Procedure: This prospective, cross-sectional study included 55 participants with SCD who completed the PAINReportIt tool and Adolescent Pediatric Pain Tool (APPT) in random order during outpatient visits to derive respective CPI scores for comparison.

Results: Of the 55 participants with SCD, 46 (84%) had HgbSS, eight (15%) HgbSC, and one (2%) HgbSβ0.

Polygenic Pharmacogenomic Markers as Predictors of Toxicity Phenotypes in the Treatment of Acute Lymphoblastic Leukemia: A Single-Center Study.

Purpose: Acute lymphoblastic leukemia (ALL) is the most prevalent cause of childhood cancer and requires a long course of therapy consisting of three primary phases with interval intensification blocks. Although these phases are necessary to achieve remission, the primary chemotherapeutic agents have potentially serious toxicities, which may lead to delays or discontinuations of therapy. The purpose of this study was to perform a comprehensive pharmacogenomic evaluation of common antileukemic agents and develop a polygenic toxicity risk score predictive of the most common toxicities observed during ALL treatment.

Profiling Cycling Trauma throughout the Body with and Without Helmet Usage in a Large United States Health-care Network.

Background: This study aimed to characterize bodily injury patterns associated with helmet usage by comparing trauma sustained by helmeted and helmetless cyclists admitted to a large US health-care system.

Materials And Methods: A prospective trauma registry associated with a large regional United States health-care network was queried for bicycle injuries resulting in hospital admission over a 5-year period. Data pertaining to helmet usage, demographics, injury description (s), Abbreviated Injury Scale score, Injury Severity Score, and hospital length of stay were collected from 140 patients treated for bicycle-related injuries.