Explanipedia

Long‐term efficacy and safety of mitapivat in non‐transfusion‐dependent α‐ or β‐thalassaemia: An open‐label phase 2 study Open

Kevin H.M. Kuo, Mark Layton, Ashutosh Lal, Elliott Vichinsky, Jayme L. Dahlin , et al. · 2025

Summary Non‐transfusion‐dependent thalassaemia (NTDT) can result in serious complications and comorbidities that can impact patients' quality of life. Mitapivat, a first‐in‐class, oral, small‐molecule allosteric activator of red blood cell…

A Novel One‐Sample Mendelian Randomization Approach for Count‐Type Outcomes That Is Robust to Correlated and Uncorrelated Pleiotropic Effects Open

Janaka S. S. Liyanage, Jane S. Hankins, Jeremie H. Estepp, Deo Kumar Srivastava, Sara R. Rashkin , et al. · 2024

We propose two novel one‐sample Mendelian randomization (MR) approaches to causal inference from count‐type health outcomes, tailored to both equidispersion and overdispersion conditions. Selecting valid single‐nucleotide polymorphisms (SN…

Social determinants of health affect disease severity among preschool children with sickle cell disease Open

Hamda Khan, Guolian Kang, Jerlym S. Porter, Juan Ding, Winfred C. Wang , et al. · 2024

Individuals with sickle cell disease (SCD) face the burden of managing a lifelong chronic illness, increasing vulnerability to social determinants of health (SDoH). However, how SDoH contributes to health disparities is understudied. We hy…

Genetic Variation and Sickle Cell Disease Severity Open

Justin K. Kirkham, Jeremie H. Estepp, Mitch Weiss, Sara R. Rashkin · 2023

Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are influenced by additional genetic factors. Despite decades of research, the genetics of SCD remain poorly understood. Objective To assess all reported g…

Intensive hydroxyurea dosing in very young children with sickle cell anemia Open

Winfred C. Wang, R. Clark Brown, Melissa A. McNaull, Zora R. Rogers, Martha Barton , et al. · 2023

Genomic analysis of venous thrombosis in children with acute lymphoblastic leukemia from diverse ancestries Open

Yan Zheng, Wenjian Yang, Jeremie H. Estepp, Deqing Pei, Cheng Cheng , et al. · 2023

Venous thrombosis is a common adverse effect of modern therapy for acute lymphoblastic leukemia (ALL). Prior studies to identify risks of thrombosis in pediatric ALL have been limited by genetic screens of pre-identified genetic variants o…

Leveraging mathematical modeling to analyze nonadherence for hydroxyurea therapy in sickle cell disease Open

A. Pandey, Rubesh Raja, Jeremie H. Estepp, Doraiswami Ramkrishna · 2023

Nonadherence is common in individuals with sickle cell disease (SCD) on hydroxyurea therapy and can be observed with waning improvements in hematologic parameters or biomarkers like mean cell volume and fetal hemoglobin level over time. We…

Data from Genetic Variants Associated with Therapy-Related Cardiomyopathy among Childhood Cancer Survivors of African Ancestry Open

Yadav Sapkota, Na Qin, Matthew J. Ehrhardt, Zhaoming Wang, Yan Chen , et al. · 2023

Cardiomyopathy occurs at significantly higher rates in survivors of childhood cancer than the general population, but few studies have evaluated racial or ethnic disparities, and none have assessed potential genetic factors contributing to…

Supplementary Data from Genetic Variants Associated with Therapy-Related Cardiomyopathy among Childhood Cancer Survivors of African Ancestry Open

Yadav Sapkota, Na Qin, Matthew J. Ehrhardt, Zhaoming Wang, Yan Chen , et al. · 2023

Supplementary Data

Supplementary Data from Genetic Variants Associated with Therapy-Related Cardiomyopathy among Childhood Cancer Survivors of African Ancestry Open

Yadav Sapkota, Na Qin, Matthew J. Ehrhardt, Zhaoming Wang, Yan Chen , et al. · 2023

Supplementary Data

Data from Genetic Variants Associated with Therapy-Related Cardiomyopathy among Childhood Cancer Survivors of African Ancestry Open

Yadav Sapkota, Na Qin, Matthew J. Ehrhardt, Zhaoming Wang, Yan Chen , et al. · 2023

Cardiomyopathy occurs at significantly higher rates in survivors of childhood cancer than the general population, but few studies have evaluated racial or ethnic disparities, and none have assessed potential genetic factors contributing to…

A Versatile and Efficient Novel Approach for Mendelian Randomization Analysis with Application to Assess the Causal Effect of Fetal Hemoglobin on Anemia in Sickle Cell Anemia Open

Janaka S. S. Liyanage, Jeremie H. Estepp, Kumar Srivastava, Sara R. Rashkin, Vivien A. Sheehan , et al. · 2022

Mendelian randomization (MR) is increasingly employed as a technique to assess the causation of a risk factor on an outcome using observational data. The two-stage least-squares (2SLS) procedure is commonly used to examine the causation us…

Mathematical Modeling of Hydroxyurea Therapy in Individuals with Sickle Cell Disease Open

Akancha Pandey, Jeremie H. Estepp, Rubesh Raja, Guolian Kang, Doraiswami Ramkrishna · 2022

Sickle cell disease (SCD) is a chronic hemolytic anemia affecting millions worldwide with acute and chronic clinical manifestations and early mortality. While hydroxyurea (HU) and other treatment strategies managed to ameliorate disease se…

Safety and efficacy of voxelotor in pediatric patients with sickle cell disease aged 4 to 11 years Open

Jeremie H. Estepp, Ram Kalpatthi, Gerald M. Woods, Sara Trompeter, Robert I. Liem , et al. · 2022

Background Sickle cell disease (SCD) is a devastating, multisystemic disorder that affects millions of people worldwide. The earliest clinical manifestations of SCD can affect infants as young as 6 months of age, and pediatric patients are…

Strategies to increase access to basic sickle cell disease care in low- and middle-income countries Open

Meghna Dua, Halima Bello‐Manga, Yvonne Carroll, Aisha A. Galadanci, Umma A. Ibrahim , et al. · 2022

Outcomes for patients with SCD in high-income countries have improved over the last few decades due to the implementation of universal newborn screening programs and use of routine antimicrobial prophylaxis, increase in therapeutic and cur…

Fetal hemoglobin modulates neurocognitive performance in sickle cell anemia✰,✰✰ Open

Andrew M. Heitzer, Jennifer Longoria, Evadnie Rampersaud, Sara R. Rashkin, Jeremie H. Estepp , et al. · 2022

A Versatile and Efficient Novel Approach for Mendelian Randomization Analysis with Application to Assess the Causal Effect of Fetal Hemoglobin on Anemia in Sickle Cell Anemia Open

Janaka S. S. Liyanage, Jeremie H. Estepp, Kumar Srivastava, Sara R. Rashkin, Vivien A. Sheehan , et al. · 2022

Mendelian randomization (MR) is increasingly employed as a technique to assess the causation of a risk factor on an outcome using observational data. The two-stage least-squares (2SLS) procedure is commonly used to examine the causation us…

SARS-CoV-2 mRNA vaccination elicits a robust and persistent T follicular helper cell response in humans Open

Philip A. Mudd, Anastasia A. Minervina, Mikhail V. Pogorelyy, Jackson S. Turner, Wooseob Kim , et al. · 2021

Pre-existing humoral immunity to human common cold coronaviruses negatively impacts the protective SARS-CoV-2 antibody response Open

Chun-Yang Lin, Joshua Wolf, David C. Brice, Yilun Sun, Macauley Locke , et al. · 2021

437. Longitudinal Plasma Cytokine Profiles Differentiating COVID-19 Severity Groups Open

Amanda Green, Aisha Souquette, Mona Agrawal, Joshua Wolf, Joshua Wolf , et al. · 2021

Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), an infection with widely varying clinical severity. Severe COVID-19 was initially proposed to be secondary to cytokine stor…

A reanalysis of pain crises data from the pivotal l-glutamine in sickle cell disease trial Open

Ahmar U. Zaidi, Jeremie H. Estepp, Nirmish Shah, Salam Alkindi, Hatoon Ezzat , et al. · 2021

The pivotal Endari trial in sickle cell disease showed a reduction in pain crises events. This reanalysis of the l-glutamine phase 3 trial using annual rates of pain crises, consistent with other SCD studies, supported the statistically si…

Progression of central nervous system disease from pediatric to young adulthood in sickle cell anemia Open

Grace Champlin, Scott N. Hwang, Andrew M. Heitzer, Juan Ding, Lisa M. Jacola , et al. · 2021

Silent cerebral infarcts and arteriopathy are common and progressive in individuals with sickle cell anemia. However, most data describing brain lesions in sickle cell anemia are cross-sectional or derive from pediatric cohorts with short …

Developmental screening of three‐year‐old children with sickle cell disease compared to controls Open

Winfred C. Wang, Molly Freeman, Latacha Hamilton, Yvonne Carroll, Guolian Kang , et al. · 2021

Summary We previously found that neurodevelopmental deficits commonly occurred in three‐year‐olds with sickle cell disease (SCD), but clinical significance was uncertain because a comparison group was lacking. Our objective in the current …

Cross-reactive Antibody Response to mRNA SARS-CoV-2 Vaccine After Recent COVID-19-Specific Monoclonal Antibody Therapy Open

Stacey Schultz‐Cherry, Maureen A. McGargill, Paul G. Thomas, Jeremie H. Estepp, Aditya H. Gaur , et al. · 2021

The efficacy of coronavirus disease 2019 (COVID-19) vaccines administered after COVID-19-specific monoclonal antibody is unknown, and “antibody interference” might hinder immune responses leading to vaccine failure. In an institutional rev…

A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease Open

Evadnie Rampersaud, Guolian Kang, Lance E. Palmer, Sara R. Rashkin, Shuoguo Wang , et al. · 2021

Individuals with monogenic disorders can experience variable phenotypes that are influenced by genetic variation. To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals with hemoglob…

SARS-CoV-2 antigen exposure history shapes phenotypes and specificity of memory CD8 T cells Open

Anastasia A. Minervina, Mikhail V. Pogorelyy, Allison M. Kirk, Jeremy Chase Crawford, E. Kaitlynn Allen , et al. · 2021

Although mRNA vaccine efficacy against severe COVID-19 remains high, variant emergence and breakthrough infections have changed vaccine policy to include booster immunizations. However, the effect of diverse and repeated antigen exposures …

What drives transcranial Doppler velocity improvement in paediatric sickle cell anaemia: analysis from the Sickle Cell Clinical Research and Intervention Program (SCCRIP) longitudinal cohort study Open

Jeremie H. Estepp, Ze Cong, Irene Agodoa, Guolian Kang, Juan Ding , et al. · 2021

Summary Children with sickle cell anaemia (SCA) and conditional transcranial Doppler (TCD) flow velocities (conditional: 170–199 cm/s; normal: <170 cm/s) have an increased risk of stroke. The Sickle Cell Clinical Research and Intervention …

Choosing the right tool for the job: A comprehensive assessment of serological assays for SARS-CoV-2 as surrogates for authentic virus neutralization Open

Nicholas Wohlgemuth, Kendall Whitt, Sean Cherry, Ericka Kirkpatrick Roubidoux, Chun-Yang Lin , et al. · 2021

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in late 2019 and has since caused a global pandemic resulting in millions of cases and deaths 1-4 . Diagnostic tools and serological assays are critical for controlling t…

The Edoxaban Hokusai VTE PEDIATRICS Study: An open‐label, multicenter, randomized study of edoxaban for pediatric venous thromboembolic disease Open

C. Heleen van Ommen, Manuela Albisetti, Anthony K.C. Chan, Jeremie H. Estepp, Julie Jaffray , et al. · 2020

A meta‐analysis of toxicities related to hydroxycarbamide dosing strategies Open

Joacy G. Mathias, Val Nolan, Meghan M. Taylor, Ashley Robinson Williams, Kristen E. Howell , et al. · 2020

Due to fear of short‐term toxicities, there is nonconsensus of hydroxycarbamide dosing strategy (escalated vs fixed‐dosing methods), which contributes to its suboptimal use. We performed a meta‐analysis to summarize the incidence rates of …

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