A5022478278- Hemoglobinopathies and Related Disorders
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Blood disorders and treatments
- Iron Metabolism and Disorders
- Platelet Disorders and Treatments
- Hematopoietic Stem Cell Transplantation
- Erythropoietin and Anemia Treatment
- Dental Education, Practice, Research
- Medical and Biological Sciences
- Bone and Joint Diseases
- Pharmacological Effects and Toxicity Studies
- Neonatal Health and Biochemistry
- Prenatal Screening and Diagnostics
- Autoimmune Bullous Skin Diseases
- Blood properties and coagulation
- Immunodeficiency and Autoimmune Disorders
- Parvovirus B19 Infection Studies
- Heparin-Induced Thrombocytopenia and Thrombosis
- Venous Thromboembolism Diagnosis and Management
- Neutropenia and Cancer Infections
- Immune Cell Function and Interaction
- Hematological disorders and diagnostics
- Chronic Lymphocytic Leukemia Research
- Central Venous Catheters and Hemodialysis
Duke Medical Center
2016-2025
Chatham University
2024
Duke University
2015-2024
AID Atlanta
2024
Children's Healthcare of Atlanta
2022
Duke University Hospital
2019
Duke Children's Hospital & Health Center
2019
University of Florida
2016
Columbus Oncology and Hematology Associates
2016
Rutgers, The State University of New Jersey
2009-2015
Pyruvate kinase deficiency is a rare, hereditary, chronic condition that associated with hemolytic anemia. In phase 2 study, mitapivat, an oral, first-in-class activator of erythrocyte pyruvate kinase, increased the hemoglobin level in patients deficiency.In this global, 3, randomized, placebo-controlled trial, we evaluated efficacy and safety mitapivat adults who were not receiving regular red-cell transfusions. The assigned to receive either (5 mg twice daily, potential escalation 20 or 50...
Sickle cell disease (SCD) remains a public health priority in the United States because of its association with complex needs, reduced life expectancy, lifelong disabilities, and high cost care.A cross-sectional analysis was conducted to calculate crude race-specific birth prevalence for SCD using state newborn screening program records during 2016-2020 from 11 Cell Data Collection states.The percentage distribution mother residence within Social Vulnerability Index quartiles derived.Among...
Objective. Raynaud’s phenomenon (RP) is an important clinical feature of systemic sclerosis (SSc) for which consistently effective therapies are lacking. The study was designed to assess the safety, tolerability, and efficacy tadalafil, a selective, long acting type V cyclic GMP phosphodiesterase (PDE-5) inhibitor, in this syndrome. Methods. We performed prospective, randomized, double-blind, placebo-controlled, crossover comparing oral tadalafil at fixed dose 20 mg daily period 4 weeks...
Although hemoglobin SC (HbSC) disease is usually considered less severe than sickle cell anemia (SCA), which includes HbSS and HbS/β 0 ‐thalassemia genotypes, many patients with HbSC experience complications, including vaso‐occlusive pain, acute chest syndrome, avascular necrosis, retinopathy, poor quality of life. Fully 20 years after the clinical laboratory efficacy hydroxyurea was proven in adult SCA patients, safety utility treatment for remain unclear. Recent NHLBI evidence‐based...
Quality of response to immunosuppressive therapy and long-term outcomes for pediatric severe aplastic anemia remain incompletely characterized. Contemporary evidence inform treatment relapsed or refractory patients is also limited. The clinical features 314 children treated from 2002 2014 with acquired were analyzed retrospectively 25 institutions in the North American Pediatric Aplastic Anemia Consortium. majority subjects (n=264) received horse anti-thymocyte globulin (hATG) plus...
Summary Transcranial Doppler ( TCD ) With Transfusions Changing to Hydroxyurea TW i TCH trial is a randomized, open‐label comparison of hydroxycarbamide (also termed hydroxyurea) versus continued chronic transfusion therapy for primary stroke prevention in patients with sickle cell anaemia SCA and abnormal . Severity location iron overload an important secondary outcome measure. We report the baseline findings abdominal organ burden 121 participants. At enrollment, were young (9·8 ± 2·9...
Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder with isolated and hemorrhagic risk. While many children ITP can be safely observed, treatments are often needed for various reasons, including to decrease bleeding, or improve health related quality of life (HRQoL). There a number available second-line treatments, rituximab, thrombopoietin-receptor agonists, oral immunosuppressive agents, splenectomy, but data comparing treatment outcomes lacking. ICON1 prospective,...
Hereditary spherocytosis (HS) is the most common red blood cell membrane (RBC) disorder causing hereditary hemolytic anemia. Patients with HS have defects in genes coding ankyrin (ANK1), band 3 (SLC4A1), protein 4.2 (EPB42), and (SPTA1) or -spectrin (SPTB). Severe recessive commonly due to biallelic SPTA1 mutations. -spectrin produced excess normal erythroid cells, therefore SPTA1-associated ensues mutations significant decrease of expression from both alleles. In this study, we...
The North American Pediatric Aplastic Anemia Consortium (NAPAAC) is a group of pediatric hematologist-oncologists, hematopathologists, and bone marrow transplant physicians from 46 institutions in America with interest expertise aplastic anemia, inherited failure syndromes, myelodysplastic syndromes. NAPAAC Bone Marrow Failure Diagnosis Care Guidelines Working Group was established the charge harmonizing approach to diagnostic workup anemia an effort standardize best practices field. This...
Abstract Severe aplastic anemia (SAA) is a rare potentially fatal hematologic disorder. Although overall outcomes with treatment are excellent, there variations in management approach, including differences between adult and pediatric patients. Certain aspects of under active investigation clinical trials. Because the rarity disease, some hematologists may have relatively limited experience complex SAA. The following recommendations reflect an up‐to‐date evidence‐based approach to children...
Abstract The adaptor molecule SAP (signaling lymphocytic activation molecule-associated protein) plays a critical role during NK T (NKT) cell development in humans and mice. In CD4+ cells, interacts with the tyrosine kinase Fyn to deliver signals required for TCR-induced Th2-type cytokine production. To determine whether SAP-dependent controlling NKT ontogeny rely on its binding Fyn, we used OP9-DL1 system initiate structure function studies of murine development. cultures containing...
The outcomes of children with congenital hemolytic anemia (CHA) undergoing total splenectomy (TS) or partial (PS) remain unclear. In this study, we collected data from 100 CHA who underwent TS PS 2005 to 2013 at 16 sites in the Splenectomy Congenital Hemolytic Anemia (SICHA) consortium using a patient registry. We analyzed demographics and baseline clinical status, operative details, 4, 24, 52 weeks after surgery. Results were summarized as hematologic outcomes, short-term adverse events...
Immune thrombocytopenia (ITP) is an acquired autoimmune bleeding disorder which presents with isolated and risk of hemorrhage. While most children ITP promptly recover or without drug therapy, persistent chronic in others. When needed, how to select second-line therapies not clear. ICON1, conducted within the Pediatric Consortium North America (ICON), a prospective, observational, longitudinal cohort study 120 from 21 centers starting treatments for examined treatment decisions. Treating...
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman–Diamond syndrome (SDS), with the functional interplay between and previously known causative gene SBDS accounting for similarity clinical features. Relatively little is about phenotypes associated pathogenic variants gene, but initial indication was that may be more severe, when compared SDS. We report pediatric patient who presented metaphyseal dysplasia found to have biallelic on reanalysis of trio whole-exome...
Few studies exist on sexual activity and functioning in female patients with systemic sclerosis (SSc, scleroderma). We studied the patient-reported impact of SSc among patients.101 completed Short Form-36 (SF-36), Female Sexual Functioning Index (FSFI) Function Scleroderma (FSFS) questionnaires.Sixty reported being sexually active (59.4%). Reasons for inactivity included lack a partner (36.6%), personal choice (31.7%), health status respondent's (19.5%). Only 7 subjects (17%) listed...
Research consistently indicates that children with sickle cell disease (SCD) face multiple risk factors for neurocognitive impairment. Despite this, no empirical research to date has examined the impact of functioning on quality life this pediatric group. Thus, current study aims examine relationship between executive and in a sample SCD further explore psychosocial family/caregiver resources as moderators relationship. A total 45 aged 8 16 years their caregivers completed measures life,...
The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder pyropoikilocytosis (HPP) is unknown. Whole exome sequencing DNA from probands 24 rHS or HPP kindreds identified numerous mutations erythrocyte membrane α-spectrin (SPTA1). Twenty-eight were novel, null alleles frequently found trans to missense mutations. No a third SPTA1 (17/48). genome revealed linkage disequilibrium between common rHS-linked α-spectrinBug Hill...