National Healthcare Quality and Disparities Report
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AHRQ Research Studies
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Research Studies is a compilation of published research articles funded by AHRQ or authored by AHRQ researchers.
Results
26 to 50 of 96 Research Studies DisplayedKunst NR, Alarid-Escudero F, Paltiel AD
A value of information analysis of research on the 21-gene assay for breast cancer management.
The authors aimed to quantify the value of conducting further research to reduce decision uncertainty in the use of the 21-gene assay Oncotype DX (21-GA). They found that current evidence strongly supports the use of the 21-GA in intermediate- and high-risk women and recommended that further research focus on low-risk women.
AHRQ-funded; HS023900.
Citation: Kunst NR, Alarid-Escudero F, Paltiel AD .
A value of information analysis of research on the 21-gene assay for breast cancer management.
Value Health 2019 Oct;22(10):1102-10. doi: 10.1016/j.jval.2019.05.004..
Keywords: Genetics, Cancer: Breast Cancer, Cancer, Shared Decision Making, Research Methodologies
Yanik MV, Seifert ME MV, Seifert ME, Locke JE
CYP3A5 genotype affects time to therapeutic tacrolimus level in pediatric kidney transplant recipients.
Optimal management of immunosuppression in kidney transplantation requires a delicate balance of efficacy and toxicity. Tacrolimus (TAC) dose requirements are significantly impacted by genetic variation in CYP3A5 polymorphisms, however the impact that genotype has on clinical outcomes in the pediatric kidney transplant population remains unclear. In this study, the investigators evaluated a retrospective cohort of 98 pediatric kidney transplant recipients. In this paper, they report on their findings.
AHRQ-funded; HS013852.
Citation: Yanik MV, Seifert ME MV, Seifert ME, Locke JE .
CYP3A5 genotype affects time to therapeutic tacrolimus level in pediatric kidney transplant recipients.
Pediatr Transplant 2019 Aug;23(5):e13494. doi: 10.1111/petr.13494..
Keywords: Children/Adolescents, Transplantation, Kidney Disease and Health, Genetics
Ruaño G, Holford T, Seip RL
Pharmacogenetic clinical decision support for psychiatric hospitalization: design of the CYP-GUIDES randomized controlled trial.
The CYP-GUIDES (Cytochrome Psychotropic Genotyping Under Investigation for Decision Support) trial aims to establish evidence for clinical pharmacogenetics in psychotropic prescription in severely depressed inpatients. This article describes the design of a Randomized Controlled Trial (RCT) of CYP2D6 genotype-guided versus standard care psychotropic prescription. The CYP-GUIDES trial will assess whether clinical prescribing guided by CYP2D6 functional status can improve the treatment of psychiatric inpatients, shorten the length of hospitalization, and reduce readmission.
AHRQ-funded; HS022304.
Citation: Ruaño G, Holford T, Seip RL .
Pharmacogenetic clinical decision support for psychiatric hospitalization: design of the CYP-GUIDES randomized controlled trial.
Contemp Clin Trials 2019 Aug;83:27-36. doi: 10.1016/j.cct.2019.06.008..
Keywords: Behavioral Health, Hospitalization, Clinical Decision Support (CDS), Health Information Technology (HIT), Genetics
Knerr S, Bowles EJA, Leppig KA
Trends in BRCA test utilization in an integrated health system, 2005-2015.
The authors reported 10-year trends in BRCA testing in an integrated health-care system with long-standing access to genetic services. They found that many eligible women did not receive BRCA testing despite having insurance coverage and access to specialty genetic services, thus underscoring challenges to primary and secondary hereditary cancer prevention.
AHRQ-funded; HS022982.
Citation: Knerr S, Bowles EJA, Leppig KA .
Trends in BRCA test utilization in an integrated health system, 2005-2015.
J Natl Cancer Inst 2019 Aug;111(8):795-802. doi: 10.1093/jnci/djz008..
Keywords: Cancer: Breast Cancer, Cancer: Ovarian Cancer, Cancer, Genetics, Screening, Prevention, Healthcare Utilization, Healthcare Delivery, Women
Kaderka R, Mundt RC, Li N
Automated closed- and open-loop validation of knowledge-based planning routines across multiple disease sites.
This study examined the use of knowledge-based planning (KBP) clinical implementation for treatment across multiple disease sites using volumetric modulated arc therapy. Researchers identified patients with prostate, lung, and head and neck cancers who were treated in the year right before their clinic’s broad adoption of RapidPlan. Statistically significant organ dose-volume histogram improvements were observed in the KBP cohort compared to manual planning.
AHRQ-funded; R01 HS025440.
Citation: Kaderka R, Mundt RC, Li N .
Automated closed- and open-loop validation of knowledge-based planning routines across multiple disease sites.
Pract Radiat Oncol 2019 Jul - Aug;9(4):257-65. doi: 10.1016/j.prro.2019.02.010..
Keywords: Cancer, Genetics, Treatments
Rotter J, Wilson L, Greiner MA
Shared-patient physician networks and their impact on the uptake of genomic testing in breast cancer.
This study examined the impact of physician networks have on the adoption of genomic testing for women with early stage breast cancer. The genomic assay discussed in this paper is Oncotype DX (ODX) which stratifies risk. The study used retrospective data from the SEER-Medicare database from 2008 to 2012. Early adoption was more likely if the oncologists shared two or more patients during that period. There was a 1.7-fold increase in providers’ adoption of ODX in 2008-2009, and a 1.5-fold increase in their patients receiving ODX in 2010-2012.
AHRQ-funded; HS022189.
Citation: Rotter J, Wilson L, Greiner MA .
Shared-patient physician networks and their impact on the uptake of genomic testing in breast cancer.
Breast Cancer Res Treat 2019 Jul;176(2):445-51. doi: 10.1007/s10549-019-05248-2..
Keywords: Cancer, Cancer: Breast Cancer, Genetics, Screening
Canedo JR, Miller ST, Myers HF
Racial and ethnic differences in knowledge and attitudes about genetic testing in the US: systematic review.
This systematic review examined racial and ethnic differences in knowledge and attitudes about genetic testing in the US. The authors found 12 articles published in 1997-2017 that met their inclusion criteria. The studies found consistent patterns of lower awareness of genetic testing in general among non-White populations, lower factual knowledge scores among Blacks and Hispanics/Latinos, and mixed findings of differences of awareness of direct-to-consumer genetic testing or the term precision medicine.
AHRQ-funded; HS026122.
Citation: Canedo JR, Miller ST, Myers HF .
Racial and ethnic differences in knowledge and attitudes about genetic testing in the US: systematic review.
J Genet Couns 2019 Jun;28(3):587-601. doi: 10.1002/jgc4.1078..
Keywords: Racial and Ethnic Minorities, Genetics, Screening, Social Determinants of Health
Dinan MA, Wilson LE, Reed SD
Chemotherapy costs and 21-gene recurrence score genomic testing among Medicare beneficiaries with early-stage breast cancer, 2005 to 2011.
This study examined whether associations between 21-gene recurrence score (RS) genomic testing and lower costs among patients with early-stage, estrogen receptor-positive breast cancer were observable in real-world data from the Medicare population. The investigators found that RS testing was associated with lower overall and chemotherapy-related costs in patients with high-risk disease, consistent with lower chemotherapy use among these patients. Higher overall costs for patients with intermediate-risk and low-risk disease were driven largely by non-treatment-related costs.
AHRQ-funded; HS022189.
Citation: Dinan MA, Wilson LE, Reed SD .
Chemotherapy costs and 21-gene recurrence score genomic testing among Medicare beneficiaries with early-stage breast cancer, 2005 to 2011.
J Natl Compr Canc Netw 2019 Mar;17(3):245-54. doi: 10.6004/jnccn.2018.7097..
Keywords: Cancer, Cancer: Breast Cancer, Treatments, Genetics, Healthcare Costs, Medicare, Women
Matsen CB, Lyons S, Goodman MS
Decision role preferences for return of results from genome sequencing amongst young breast cancer patients.
The purpose of this study was to better understand decision role preferences in women diagnosed with breast cancer at a young age for return of results of genome sequencing in research and clinical settings. The investigators found that most women in their study preferred to share in decision making and that participants had somewhat different role preferences for clinical and research contexts, with greater preference for active roles in the research context.
AHRQ-funded; HS024784.
Citation: Matsen CB, Lyons S, Goodman MS .
Decision role preferences for return of results from genome sequencing amongst young breast cancer patients.
Patient Educ Couns 2019 Jan;102(1):155-61. doi: 10.1016/j.pec.2018.08.004..
Keywords: Cancer, Cancer: Breast Cancer, Shared Decision Making, Genetics, Women
Li D, Haritunians T, Landers C
Late-onset Crohn's Disease is a subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
Age of onset is linked to variations in clinical phenotypes and natural history in Crohn's disease (CD). In this study, the investigators aimed to define etiologically more homogenous subgroups in CD based on ages of onset. The investigators concluded that late-onset CD was subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
AHRQ-funded; HS021747.
Citation: Li D, Haritunians T, Landers C .
Late-onset Crohn's Disease is a subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
Inflamm Bowel Dis 2018 Oct 12;24(11):2413-22. doi: 10.1093/ibd/izy148..
Keywords: Digestive Disease and Health, Risk, Genetics
Wilson LE, Pollack CE, Greiner MA
Association between physician characteristics and the use of 21-gene recurrence score genomic testing among Medicare beneficiaries with early-stage breast cancer, 2008-2011.
This study sought to determine whether physician-level characteristics were associated with 21-gene recurrence score (RS) genomic testing to evaluate recurrence risk and benefit of adjuvant chemotherapy in patients with estrogen receptor-positive, node-negative breast cancer. The study concluded that although most RS testing was ordered by medical oncologists, physicians in other specialties ordered roughly one-third of the tests. Physician characteristics, including gender and time in practice, were associated with receiving testing.
AHRQ-funded; HS022189.
Citation: Wilson LE, Pollack CE, Greiner MA .
Association between physician characteristics and the use of 21-gene recurrence score genomic testing among Medicare beneficiaries with early-stage breast cancer, 2008-2011.
Breast Cancer Res Treat 2018 Jul;170(2):361-71. doi: 10.1007/s10549-018-4746-6..
Keywords: Cancer, Cancer: Breast Cancer, Genetics, Practice Patterns, Women
Polubriaginof FCG, Vanguri R, Quinnies K
Disease heritability inferred from familial relationships reported in medical records.
Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. This study used EHR data to compute heritability estimates for 500 disease phenotypes. These analyses provided a validation of the use of EHRs for genetics and disease research.
AHRQ-funded; HS021816; HS022961.
Citation: Polubriaginof FCG, Vanguri R, Quinnies K .
Disease heritability inferred from familial relationships reported in medical records.
Cell 2018 Jun 14;173(7):1692-704.e11. doi: 10.1016/j.cell.2018.04.032..
Keywords: Data, Family Health and History, Genetics, Health Information Technology (HIT), Electronic Health Records (EHRs)
Childers KK, Maggard-Gibbons M, Macinko J
National distribution of cancer genetic testing in the United States: evidence for a gender disparity in hereditary breast and ovarian cancer.
Identifying mutation carriers is critical for treatment decisions, cancer prevention, and early detection. This study analyzed the 2015 US National Health Interview Survey (NHIS), a cross-sectional in-person interview gathering self-reported health data for the US population. The study found that while cancer genetic testing seems to reach a broad geographic and sociodemographic population in the national survey, there remain underrepresented groups, including Hispanics, the uninsured, noncitizens, and those with less education.
AHRQ-funded; HS025079.
Citation: Childers KK, Maggard-Gibbons M, Macinko J .
National distribution of cancer genetic testing in the United States: evidence for a gender disparity in hereditary breast and ovarian cancer.
JAMA Oncol 2018 Jun;4(6):876-79. doi: 10.1001/jamaoncol.2018.0340..
Keywords: Cancer, Cancer: Breast Cancer, Cancer: Ovarian Cancer, Genetics, Racial and Ethnic Minorities, Screening, Social Determinants of Health, Women
Gray SW, Gagan J, cerami E
Interactive or static reports to guide clinical interpretation of cancer genomics.
Misinterpretation of complex genomic data presents a major challenge in the implementation of precision oncology. In this randomized, vignette-based survey study, the investigators sought to determine whether interactive genomic reports with embedded clinician education and optimized data visualization improved genomic data interpretation. The investigators concluded that interactive genomic reports may improve physicians' ability to accurately assess genomic data and increase report-related satisfaction.
AHRQ-funded; HS024984.
Citation: Gray SW, Gagan J, cerami E .
Interactive or static reports to guide clinical interpretation of cancer genomics.
J Am Med Inform Assoc 2018 May;25(5):458-64. doi: 10.1093/jamia/ocx150..
Keywords: Genetics, Cancer, Diagnostic Safety and Quality
Roberts MC, Dotson WD, DeVore CS
AHRQ Author: Ganiats TG
Delivery of cascade screening for hereditary conditions: a scoping review of the literature.
The authors conducted a scoping review to obtain a broad overview of cascade screening interventions, facilitators and barriers to their use, relevant policy considerations, and future research needs. They sought standardized best practices for optimizing cascade screening across various geographic and policy contexts, but found none. Studies in which trained providers contacted relatives directly, rather than through probands (index patients), showed greater cascade screening uptake; however, policies in some states might limit this approach.
AHRQ-authored.
Citation: Roberts MC, Dotson WD, DeVore CS .
Delivery of cascade screening for hereditary conditions: a scoping review of the literature.
Health Aff 2018 May;37(5):801-08. doi: 10.1377/hlthaff.2017.1630.
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Keywords: Family Health and History, Genetics, Policy, Screening
Lewis AH, Chugh A, Sobotka SA
Behavioral outbursts in a child with a deletion syndrome, generalized epilepsy, global developmental delay, and failure to thrive.
This paper presents the case of a 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy who presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development.
AHRQ-funded; HS023007.
Citation: Lewis AH, Chugh A, Sobotka SA .
Behavioral outbursts in a child with a deletion syndrome, generalized epilepsy, global developmental delay, and failure to thrive.
Pediatr Ann 2018 Mar;47(3):e130-e34. doi: 10.3928/19382359-20180223-01..
Keywords: Case Study, Children/Adolescents, Disabilities, Genetics, Neurological Disorders
Haymart MR
Is BRAF V600E mutation the explanation for age-associated mortality risk in patients with papillary thyroid cancer?
In this editorial, the author discusses an article appearing within the same issue. She states that the general hypothesis that age-related differences in mortality could be linked to underlying pathogenesis and specifically to oncogenic alterations is probable. She recommends confirmatory studies and concludes that this area of investigation offers potential opportunities to tailor prognostication further through a better understanding of pathogenesis.
AHRQ-funded; HS024512.
Citation: Haymart MR .
Is BRAF V600E mutation the explanation for age-associated mortality risk in patients with papillary thyroid cancer?
J Clin Oncol 2018 Feb 10;36(5):433-34. doi: 10.1200/jco.2017.76.2583..
Keywords: Cancer, Genetics, Mortality, Risk
Dickerson JF, Feeny DH, Clarke GN
Evidence on the longitudinal construct validity of major generic and utility measures of health-related quality of life in teens with depression.
This study examined the longitudinal construct validity in the assessment of changes in depressive symptoms of widely used utility and generic health-related quality of life (HRQL) instruments in teens. Its findings support the longitudinal construct validity of included HRQL instruments for the assessment of change in depression outcomes in teens.
AHRQ-funded; HS017720.
Citation: Dickerson JF, Feeny DH, Clarke GN .
Evidence on the longitudinal construct validity of major generic and utility measures of health-related quality of life in teens with depression.
Qual Life Res 2018 Feb;27(2):447-54. doi: 10.1007/s11136-017-1728-9.
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Keywords: Children/Adolescents, Depression, Genetics, Quality of Life
Taylor BD, Totten PA, Astete SG
Toll-like receptor variants and cervical Atopobium vaginae infection in women with pelvic inflammatory disease.
Toll-like (TLR) receptor genetic variants have been implicated in bacterial vaginosis (BV). This study determined whether TLR variants are associated with fastidious BV-associated microbes that are linked with infertility following pelvic inflammatory disease (PID). The investigators concluded that host gene variants in TLR2 signaling pathways were modestly associated with cervical A. vaginae in women with clinical PID.
AHRQ-funded; HS008358.
Citation: Taylor BD, Totten PA, Astete SG .
Toll-like receptor variants and cervical Atopobium vaginae infection in women with pelvic inflammatory disease.
Am J Reprod Immunol 2018 Feb;79(2). doi: 10.1111/aji.12804..
Keywords: Genetics, Sexual Health, Women
Hui KY, Fernandez-Hernandez H, Hu J
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Researchers studied the risk for Crohn’s disease (CD) and Parkinson’s disease (PD) in a population of Ashkenazi Jews who have the LRRK2 gene. This gene provides a risk for both conditions, However, some alleles (like N2081D variant) conferred more risk for CD or protection from CD (N551K variant). These shared alleles may provide insight into disease mechanisms and treatments.
AHRQ-funded; HS021747.
Citation: Hui KY, Fernandez-Hernandez H, Hu J .
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Sci Transl Med 2018 Jan 10;10(423). doi: 10.1126/scitranslmed.aai7795..
Keywords: Genetics, Neurological Disorders, Risk
Balentine CJ, Vanness DJ, Schneider DF
Cost-effectiveness of lobectomy versus genetic testing (Afirma(R)) for indeterminate thyroid nodules: considering the costs of surveillance.
This study evaluated whether diagnostic thyroidectomy for indeterminate thyroid nodules would be more cost-effective than genetic testing after including the costs of long-term surveillance. Its base case estimate suggests that diagnostic lobectomy dominates genetic testing as a strategy for ruling out malignancy of indeterminate thyroid nodules.
AHRQ-funded; HS023009.
Citation: Balentine CJ, Vanness DJ, Schneider DF .
Cost-effectiveness of lobectomy versus genetic testing (Afirma(R)) for indeterminate thyroid nodules: considering the costs of surveillance.
Surgery 2018 Jan;163(1):88-96. doi: 10.1016/j.surg.2017.10.004.
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Keywords: Cancer, Shared Decision Making, Diagnostic Safety and Quality, Genetics, Healthcare Costs, Screening, Surgery
Wardyn SE, Stegger M, Price LB
Whole-genome analysis of recurrent Staphylococcus aureus t571/ST398 infection in farmer, Iowa, USA.
Staphylococcus aureus strain sequence type (ST) 398 has emerged during the last decade, largely among persons who have contact with swine or other livestock. Although colonization with ST398 is common in livestock workers, infections are not frequently documented. The authors report recurrent ST398-IIa infection in an Iowa farmer in contact with swine and cattle.
AHRQ-funded; HS019966.
Citation: Wardyn SE, Stegger M, Price LB .
Whole-genome analysis of recurrent Staphylococcus aureus t571/ST398 infection in farmer, Iowa, USA.
Emerg Infect Dis 2018 Jan;24(1):153-54. doi: 10.3201/eid2401.161184.
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Keywords: Community-Acquired Infections, Genetics, Infectious Diseases, Methicillin-Resistant Staphylococcus aureus (MRSA)
Childers CP, Childers KK, Maggard-Gibbons M
National estimates of genetic testing in women with a history of breast or ovarian cancer.
In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15 percent of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. This study found that fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing.
AHRQ-funded; HS025079.
Citation: Childers CP, Childers KK, Maggard-Gibbons M .
National estimates of genetic testing in women with a history of breast or ovarian cancer.
J Clin Oncol 2017 Dec 1;35(34):3800-06. doi: 10.1200/jco.2017.73.6314.
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Keywords: Cancer, Cancer: Breast Cancer, Cancer: Ovarian Cancer, Family Health and History, Genetics, Quality of Care, Screening, Women
Totten M, Ross T, Voskertchian A
Analysis of morphologically similar Staphylococcus aureus colonies for assessment of phenotypic and genotypic correlation.
In an effort to track and control the transmission of Staphylococcus aureus, patient isolates are saved for epidemiological studies (1–3). Study investigators often assume that colonies with the same morphology on the original culture plate represent the same clone. However, there is very limited literature to support this assumption. In this study, multiple S. aureus colonies were saved from a single culture plate and tested to determine their genotypes and susceptibility profiles.
AHRQ-funded; HS022872.
Citation: Totten M, Ross T, Voskertchian A .
Analysis of morphologically similar Staphylococcus aureus colonies for assessment of phenotypic and genotypic correlation.
J Clin Microbiol 2017 Jul;55(7):2285-86. doi: 10.1128/jcm.00402-17..
Keywords: Genetics, Infectious Diseases, Research Methodologies
Feldman S, Kasjanski R, Poposki J
Chronic airway inflammation provides a unique environment for B cell activation and antibody production.
This study sought to determine the mechanisms that drive B cell activation and antibody production during chronic airway inflammation. It found that nasal polyps contained significantly elevated frequencies of plasmablasts, especially those that expressed the extrafollicular marker Epstein-Barr virus-induced protein 2 (EBI2), but significantly fewer germinal centre (GC) B cells compared with tonsil.
AHRQ-funded; HS023011.
Citation: Feldman S, Kasjanski R, Poposki J .
Chronic airway inflammation provides a unique environment for B cell activation and antibody production.
Clin Exp Allergy 2017 Apr;47(4):457-66. doi: 10.1111/cea.12878.
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Keywords: Chronic Conditions, Genetics, Respiratory Conditions