6 results on '"Burley, K."'
Search Results
2. Scoping Review of Factors Associated with Stem Cell Mobilization and Collection in Allogeneic Stem Cell Donors.
- Author
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Peck RC, Knapp-Wilson A, Burley K, Dorée C, Griffin J, Mumford AD, Stanworth S, and Sharplin K
- Subjects
- Humans, Antigens, CD34, Peripheral Blood Stem Cells metabolism, Transplantation, Homologous methods, Hematopoietic Stem Cells cytology, Hematopoietic Stem Cell Transplantation methods, Male, Female, Hematopoietic Stem Cell Mobilization, Tissue Donors statistics & numerical data, Granulocyte Colony-Stimulating Factor
- Abstract
There is wide interindividual variation in the efficacy of CD34
+ cell mobilization and collection in healthy allogenic hematopoietic stem cell donors. Donor characteristics, blood cell counts, and various factors related to mobilization and collection have been associated with blood CD34+ cell count and CD34+ cell yield after granulocyte colony-stimulating factor (G-CSF) mobilization and collection. Given the heterogenous nature of the literature reporting these associations, in this scoping review we clarify the determinants of CD34+ count and yield. Studies published between 2000 and 2023 reporting allogeneic donors undergoing G-CSF mobilization and peripheral blood stem cell (PBSC) collection were evaluated. Eligible studies were those that assessed blood CD34+ cell count or CD34+ cell yield in the first PBSC collection after mobilization with 4 or 5 days of G-CSF treatment. Associations were recorded between these outcomes and donor factors (age, sex, weight, ethnicity), mobilization factors (G-CSF scheduling or dose), collection factors (venous access, processed blood volume [PBV]) or laboratory factors (blood cell counts at baseline or after mobilization). The 52 studies evaluated between 15 and 20,884 donors. Forty-three studies were retrospective, 33 assessed blood CD34+ cell counts, and 39 assessed CD34+ cell yield from PBSCs. Blood CD34+ cell counts consistently predicted CD34+ cell yield. Younger donors usually had higher blood CD34+ cell counts and CD34+ cell yield. Most studies that investigated the effect of donor ancestry found that donors of non-European ancestry had higher blood CD34+ cell counts after mobilization and higher CD34+ cell yields from collection. The poor consensus about the best predictors of blood CD34+ cell count and yield necessitates further prospective studies, particularly of the role of donor ancestry. The current focus on donor sex as a major predictor requires re-evaluation., (Copyright © 2024 The American Society for Transplantation and Cellular Therapy. Published by Elsevier Inc. All rights reserved.)- Published
- 2024
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3. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
- Author
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Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, and Smedley D
- Abstract
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited to the 100,000 Genomes Project (100KGP). Following in silico triaging of the results, 88 novel associations were identified including 38 with existing experimental evidence. We have published the confirmation of one of these associations, hereditary ataxia with UCHL1 , and independent confirmatory evidence has recently been published for four more. We highlight a further seven compelling associations: hypertrophic cardiomyopathy with DYSF and SLC4A3 where both genes show high/specific heart expression and existing associations to skeletal dystrophies or short QT syndrome respectively; monogenic diabetes with UNC13A with a known role in the regulation of β cells and a mouse model with impaired glucose tolerance; epilepsy with KCNQ1 where a mouse model shows seizures and the existing long QT syndrome association may be linked; early onset Parkinson's disease with RYR1 with existing links to tremor pathophysiology and a mouse model with neurological phenotypes; anterior segment ocular abnormalities associated with POMK showing expression in corneal cells and with a zebrafish model with developmental ocular abnormalities; and cystic kidney disease with COL4A3 showing high renal expression and prior evidence for a digenic or modifying role in renal disease. Confirmation of all 88 associations would lead to potential diagnoses in 456 molecularly undiagnosed cases within the 100KGP, as well as other rare disease patients worldwide, highlighting the clinical impact of a large-scale statistical approach to rare disease gene discovery.
- Published
- 2023
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4. PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.
- Author
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Burley K, Fitzgibbon L, van Heel D, Vuckovic D, and Mumford AD
- Abstract
Background: Blood platelets are mediators of atherothrombotic disease and are regulated by complex sets of genes. Association studies in European ancestry populations have already detected informative platelet regulatory loci. Studies in other ancestries can potentially reveal new associations because of different allele frequencies, linkage structures, and variant effects., Objectives: To reveal new regulatory genes for platelet count (PLT)., Methods: Genome-wide association studies (GWAS) were performed in 20,218 Bangladeshi and 9198 Pakistani individuals from the Genes & Health study. Loci significantly associated with PLT underwent fine-mapping to identify candidate genes., Results: Of 1588 significantly associated variants ( P < 5 × 10
-8 ) at 20 loci in the Bangladeshi analysis, most replicated findings in prior transancestry GWAS and in the Pakistani analysis. However, the Bangladeshi locus defined by rs946528 (chr1:46019890) did not associate with PLT in the Pakistani analysis but was in the same linkage disequilibrium block ( r2 ≥ 0.5) as PLT-associated variants in prior East Asian GWAS. The single independent association signal was refined to a 95% credible set of 343 variants spanning 8 coding genes. Functional annotation, mapping to megakaryocyte regulatory regions, and colocalization with blood expression quantitative trait loci identified the likely mediator of the PLT phenotype to be PIK3R3 encoding a regulator of phosphoinositol 3-kinase (PI3K)., Conclusion: Abnormal PI3K activity in the vessel wall is already implicated in the pathogenesis of atherothrombosis. Our identification of a new association between PIK3R3 and PLT provides further mechanistic insights into the contribution of the PI3K pathway to platelet biology., (© 2023 The Authors.)- Published
- 2023
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5. Recent Incarceration Exposure Among Parents of Live-Born Infants and Maternal and Child Health.
- Author
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Lee RD, D'Angelo DV, Dieke A, and Burley K
- Subjects
- Infant, Newborn, Child, Pregnancy, Humans, Infant, Female, Male, Infant Health, New York City epidemiology, Child Health, Parents
- Abstract
Objective: Women who have direct exposure to incarceration or indirect exposure through their partner are at high risk for poor health behaviors and outcomes, which may have lasting impacts on their children. The objectives of this study were to estimate the prevalence of recent incarceration exposure among women with a recent live birth and assess the relationship between incarceration exposure and maternal and child health., Methods: We used data from the Pregnancy Risk Assessment Monitoring System (36 states and New York City, 2012-2015; N = 146 329) to estimate the prevalence of women reporting that they or their husband/partner spent time in jail during the 12 months before giving birth. We used multivariable logistic regression to assess associations between incarceration exposure and maternal and infant health conditions., Results: The prevalence of incarceration exposure shortly before or during pregnancy was 3.7% (95% CI, 3.6%-3.9%). Women with incarceration exposure had increased odds of prepregnancy hypertension (adjusted odds ratio [aOR] = 1.51; 95% CI, 1.26-1.81), prepregnancy and postpartum depressive symptoms (aOR = 1.95 [95% CI, 1.73-2.19] and 1.49 [95% CI, 1.32-1.67], respectively), and having an infant admitted to the neonatal intensive care unit (aOR = 1.18; 95% CI, 1.04-1.33)., Conclusion: Because a parent's incarceration exposure is an adverse childhood experience with the potential to disrupt important developmental periods and have negative impacts on the socioemotional and health outcomes of children, it is critical for researchers and health care providers to better understand its impact on maternal and infant health. Prenatal and postnatal care may provide opportunities to address incarceration-related health risks.
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- 2023
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6. Implementation of Community‑Wide Initiatives Designed to Reduce Teen Pregnancy: Measuring Progress in a 5‑Year Project in 10 Communities.
- Author
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House LD, Tevendale H, Brittain A, Burley K, Fuller TR, Mueller T, Romero L, Venugopalan B, and Koumans EH
- Abstract
Introduction: Community-wide initiatives (CWI) to prevent teen pregnancy were implemented in 10 communities in the USA. The CWI supported the implementation of evidence-based teen pregnancy interventions (EBIs) and implementation of best practices for adolescent reproductive health care. Implementation was supported through mobilizing communities, educating stakeholders, and strategies to promote health equity., Methods: We assessed indicators of progress of the CWI for the following five project components (data collected from 2010 to 2015): community mobilization, stakeholder education, working with diverse communities, evidence-based interventions, and increasing access to clinical services and the potential contributions of training and technical assistance., Results: Communities engaged multiple stakeholder groups to contribute to planning, community outreach and education, and partnership development and used multiple dissemination methods to share information on adolescent reproductive health needs and teen pregnancy prevention strategies. The amount of training and technical assistance from state- and community-based organizations was associated with increased numbers of youth receiving EBIs and increased provision of contraceptives. The number of health centers implementing best practices for adolescent reproductive health services increased; conducting sexual health assessments, offering hormonal contraception or IUD, and offering quick start of IUDs were associated with increases in long-acting reversible contraception utilization., Conclusions: These findings demonstrate that scaled prevention efforts can occur with adequate support including training and technical assistance and community awareness and engagement in the process., Policy Implications: The findings raise important questions for understanding what factors contribute to successful community-wide implementation of EBIs and health center best practices for contraceptive access and whether these lead to reductions in teen pregnancies in highly impacted communities., Competing Interests: Conflict of Interest The authors declare no competing interests.
- Published
- 2022
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