Trends in Sickle Cell Disease Mortality: 1979-2020.

Background And Objectives: Although sickle cell disease (SCD)-related childhood mortality in the United States significantly improved in the 1990s, unclear is the trend in SCD-related mortality more recently given the continued disparities faced by this minoritized population. In this analysis, we aimed to (1) compare the overall and age-specific mortality rates from 1999 to 2009 vs 2010 to 2020 with a particular focus on the age of transition and (2) determine the most common causes of death for the US SCD population for 2010 to 2020.

Methods: We analyzed publicly available data from the Centers for Disease Control and Prevention WONDER database, a compilation of national-level mortality statistics from 1979 to 2020 derived from death certificates compiled by the National Center for Health Statistics.

Quantifying dilated perivascular spaces in children with sickle cell disease.

Sickle cell disease (SCD)-related neurological effects are particularly devastating. Dilated perivascular spaces (dPVS) are a well-described component of cerebral small vessel disease in older adults without SCD. However, the burden and association of dPVS with neurological complications in children with SCD have not been described.

Uncovering an undisclosed diagnosis: a glucose-6-phosphate dehydrogenase deficiency diagnosis in a critically ill adult.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects over 400 million people worldwide. The most common variant of G6PD deficiency in the United States is the A-variant, which is present amongst African-Americans. Most people with this variant, however, do not experience severe hemolysis unless under extreme circumstances.

A bone to pick-cellular and molecular mechanisms of bone pain in sickle cell disease.

The bone is one of the most commonly affected organs in sickle cell disease (SCD). Repeated ischemia, oxidative stress and inflammation within the bone is largely responsible for promoting bone pain. As more individuals with SCD survive into adulthood, they are likely to experience a synergistic impact of both aging and SCD on their bone health.

History of obstructive sleep apnea associated with incident cognitive impairment in white but not black individuals in a US national cohort study.

Background: We sought to determine if risk for obstructive sleep apnea (OSA), a history of OSA, and/or treatment of OSA has a different association with incident cognitive impairment or cognitive decline in Black individuals and White individuals.

Methods: To determine whether the risk for OSA, a history of OSA, and/or treatment of OSA has a different association with incident cognitive impairment or cognitive decline in Black individuals and White individuals; data from the REasons for Geographic and Racial Differences in Stroke (REGARDS) was used. Participants that completed the sleep questionnaire module, had baseline cognitive assessment, and at least one cognitive assessment during follow-up were included.

Molecular and environmental contributors to neurological complications in sickle cell disease.

Sickle cell disease (SCD) is an inherited hemoglobinopathy in which affected hemoglobin polymerizes under hypoxic conditions resulting in red cell distortion and chronic hemolytic anemia. SCD affects millions of people worldwide, primarily in Sub-Saharan Africa and the Indian subcontinent. Due to vaso-occlusion of sickled red cells within the microvasculature, SCD affects virtually every organ system and causes significant morbidity and early mortality.

Inherited disorders of hemoglobin: A review of old and new diagnostic methods.

The genetic regulation of hemoglobin is complex and there are a number of genetic abnormalities that result in clinically important hemoglobin disorders. Here, we review the molecular pathophysiology of hemoglobin disorders and review both old and new methods of diagnosing these disorders. Timely diagnosis of hemoglobinopathies in infants is essential to coordinate optimal life-saving interventions, and accurate identification of carriers of deleterious mutations allows for genetic counseling and informed family planning.

Effect of Blood Transfusion on Cerebral Hemodynamics and Vascular Topology Described by Computational Fluid Dynamics in Sickle Cell Disease Patients.

The main objective of this study was to demonstrate that computational fluid dynamics (CFD) modeling can be used to study the contribution of covert and overt vascular architecture to the risk for cerebrovascular disease in sickle cell disease (SCD) and to determine the mechanisms of response to therapy such as chronic red blood cell (cRBC) transfusions. We analyzed baseline (screening), pre-randomization and study exit magnetic resonance angiogram (MRA) images from 10 (5 each from the transfusion and observation arms) pediatric sickle SCD participants in the silent cerebral infarct transfusion (SIT) trial using CFD modeling. We reconstructed the intracranial portion of the internal carotid artery and branches and extracted the geometry using 3D Slicer.

Early hydroxyurea use is neuroprotective in children with sickle cell anemia.

Children with sickle cell disease (SCD) who began hydroyxurea before age five years scored no differently on a measure of cognitive funciton than age, sex, and race-matched unaffected peers.

How I approach disease-modifying therapy in children with sickle cell disease in an era of novel therapies.

Finally,after decades of stagnation, the therapeutic landscape for sickle cell disease (SCD) is changing with an increasing number of novel therapeutics. Hydroxyurea remains the primary disease-modifying therapy and, when started early in life with maintenance of an optimal dose, can reduce many SCD-related complications. To complement hydroxyurea, there are a growing number of pharmacologic options with additional efforts focused on the development and optimization of curative therapies.

Implementation of near-universal hydroxyurea uptake among children with sickle cell anemia: A single-center experience.

Background: Without early initiation of disease-modifying therapy, the acute and chronic complications of sickle cell anemia (SCA) begin early in childhood and progress throughout life. Hydroxyurea is a safe and effective medication that reduces or prevents most SCA-related complications. Despite recommendations to prescribe hydroxyurea for all children with SCA as young as 9 months, utilization remains low.

Metastatic neuroblastoma masquerading as infantile hemangioma in a 4-month-old child.

Introduction: Diffuse liver lesions in an infant have a differential diagnosis including infantile hemangioma (IH), which is common in the first year of life, and neuroblastoma (NBL) which presents at a median age of 18 months.

Results: We describe the case of a 4-month-old girl with a known superficial/deep IH who presented with new axillary nodules and hepatosplenomegaly, initially suspected to reflect IH but later determined to be widely metastatic NBL.

Conclusion: Hepatic IH and metastatic NBL can present similarly.

Hydroyxurea improves cerebral oxygen saturation in children with sickle cell anemia.

Neurologic complications are common in patients with sickle cell anemia (SCA), but conventional tools such as MRI and transcranial Doppler ultrasonography (TCD) do not fully assess cerebrovascular pathology. Cerebral tissue oximetry measures mixed oxygen saturation in the frontal lobes (S O ) and provides early prognostic information about tissue at risk of ischemic injury. Untreated patients with SCA have significantly lower S O than healthy controls that declines with age.

Academic Challenges and School Service Utilization in Children with Sickle Cell Disease.

Objectives: To describe the academic concerns and risk strata of children with sickle cell disease (SCD) as identified through a parent-directed screening tool and to compare the rates of these concerns with actual school service utilization in the clinic population.

Study Design: We completed a retrospective review of patients with SCD referred to the school intervention program during the 2017-2018 and 2018-2019 school years because of a school-related concern raised by parents or noted by the clinical team. All parents completed the Brief School Needs Inventory (BSNI), a validated parent-response tool used to stratify academic risk.

A pilot study to screen for poor academic performance in children with sickle cell disease in the outpatient setting.

Background: Children with sickle cell disease (SCD) are at risk for neurocognitive deficits, which can lead to effects on academic performance and later job attainment. However, screening in children at high risk for poor academic performance (PAP) in a clinic setting has been limited. The goal was to identify young children with SCD at high risk for PAP via administration of a standardized screening tool at the clinic visit.

Management of vaso-occlusive episodes in the day hospital decreases admissions in children with sickle cell disease.

Acute vaso-occlusive episodes (VOE) are the most common reason for presentation to the Emergency Department (ED) and inpatient admission in people living with sickle cell disease (SCD). The goal of this study was to compare the hospital admission rate for VOE from our centre's day hospital (Pediatric Ambulatory Chemotherapy and Transfusion Unit; PACT) versus the ED, and to determine which factors influence admission rate. The study included a total of 370 visits involving 140 children with SCD with a mean age of 10·9 ± 5·5 years.

Transfusion-transmitted babesiosis leading to severe hemolysis in two patients with sickle cell anemia.

The intracellular parasites Babesia microti and Babesia duncani can be transmitted by blood transfusion and cause severe life-threatening hemolytic anemia in high-risk patients, including those with sickle cell disease. The rarity of the diagnosis, as well as its similar clinical presentation to delayed hemolytic transfusion reaction, may lead to a delay in diagnosis, as well as inappropriate treatment with steroids or other immunosuppressive agents. The morbidity caused by this disease in especially vulnerable populations justifies the need for a universal blood-screening program in endemic areas.

Characterization of a genomic divergence island between black-and-yellow and gopher Sebastes rockfishes.

Islands of high genomic divergence that contain genes of evolutionary significance may form between diverging species. The gopher rockfish, Sebastes carnatus, and black-and-yellow rockfish, S. chrysomelas, are sympatrically distributed temperate marine species inhabiting rocky reefs and kelp forests on the west coast of the United States.