Publications by authors named "Rachel Bishop"

60 Publications

Sexual Health Information Sources, Needs, and Preferences of Young Adult Sexual Minority Cisgender Women and Non-Binary Individuals Assigned Female at Birth.

Sex Res Social Policy 2021 Sep 11;18(3):775-787. Epub 2020 Sep 11.

Department of Social and Behavioral Sciences, Harvard T.H. Chan School of Public Health, Boston, MA, USA.

Background: Young adult sexual minority women (SMW) have unique sexual health needs and higher rates of some poor sexual health outcomes compared to their heterosexual peers. Unequal access to relevant sexual health information may contribute to sexual orientation disparities in sexual health among women, but research on sexual health communication among SMW is sparse.

Methods: In-depth interviews conducted in 2016-2017 investigated sexual health communication in a sample of 29 racially/ethnically diverse cisgender women and non-binary individuals assigned female at birth who were between 19 and 36 years of age and identified as a sexual minority. Data were analyzed using a thematic analysis approach that involved inductive and deductive coding to identify themes.

Results: Three broad themes were identified: 1) sources of sexual health information; 2) sexual health information needs; and 3) preferences for sexual health information delivery. Participants discussed and critiqued the Internet, other mass media, health care providers, school-based sex education, family, and peers/partners as sources of sexual health information. Participants expressed a need for customized, non-heteronormative information pertaining to sexually transmitted infection risk and prevention. They preferred receiving information from health care providers, the Internet, and other mass media, and some also suggested school-based sex education and peer education as methods for delivering information.

Conclusions: Participants expressed clear desires for relevant, high-quality sexual health information delivered through a variety of channels, especially the Internet, other mass media, and health care providers.

Policy Implications: Findings call for policies that improve provision of sexual health information through health care providers, online resources, and school-based sex education.
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http://dx.doi.org/10.1007/s13178-020-00501-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414874PMC
September 2021

Effects of the COVID-19 Pandemic on the Professional Career of Women in Oral and Maxillofacial Surgery.

Oral Maxillofac Surg Clin North Am 2021 Jun 5. Epub 2021 Jun 5.

Department of Oral & Maxillofacial Surgery, Oregon Health & Science University, School of Dentistry, 2730 SW Moody Avenue, Portland, OR 97201, USA. Electronic address:

The COVID-19 pandemic altered all facets of society on a fundamental level, impacting work, mental health, and family life. Female surgeons experienced gender inequity and bias before COVID; therefore, women in oral and maxillofacial surgery (OMS) were affected disproportionately by the repercussions of the pandemic. Well-established inequalities are intensified during times of crisis. This article enlightens readers regarding the preexisting inequalities in the OMS specialty, how the COVID-19 pandemic exacerbated these ubiquitous issues, and how the specialty should accommodate these inequities moving forward.
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http://dx.doi.org/10.1016/j.coms.2021.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8179059PMC
June 2021

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1.

Neurol Genet 2021 Aug 15;7(4):e606. Epub 2021 Jul 15.

National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8284080PMC
August 2021

Reply.

Ophthalmology 2021 Sep 21;128(9):e44-e45. Epub 2021 Jun 21.

National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.ophtha.2021.05.015DOI Listing
September 2021

A Quality Improvement Education Pilot Project to Increase Recommendations for Physical Activity in Cancer Survivors.

J Contin Educ Nurs 2021 Apr 1;52(4):184-191. Epub 2021 Apr 1.

Physical activity can provide benefits for cancer survivors. A nurse-provided physical activity recommendation is strongly supported by evidence-based symptom interventions developed by the Oncology Nursing Society. This pilot project aimed to evaluate whether a focused quality improvement education (QIE) intervention could increase the frequency with which oncology nurses provide a physical activity recommendation to patients. Using The Expanded Learning Model for Systems to structure the project, the project team provided a multipronged educational approach with coaching through quality improvement activities to guide practice change. Oncology-focused clinical quality measures (CQMs) related to assessment for cancer-related fatigue and recommendation for physical activity provided the primary data used to evaluate the impact of the QIE intervention. CQM data demonstrated substantial increases in the frequency with which patients were assessed for fatigue and provided with a physical activity recommendation. This pilot project provides preliminary evidence that a QIE intervention supported by coaching can help facilitate evidence-based practice change. .
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http://dx.doi.org/10.3928/00220124-20210315-07DOI Listing
April 2021

A Framework for Outpatient Infusion of Antispike Monoclonal Antibodies to High-Risk Patients with Mild-to-Moderate Coronavirus Disease-19: The Mayo Clinic Model.

Mayo Clin Proc 2021 05 9;96(5):1250-1261. Epub 2021 Mar 9.

Division of Pediatric Infectious Diseases, Mayo Clinic, Rochester, MN.

The administration of spike monoclonal antibody treatment to patients with mild to moderate COVID-19 is very challenging. This article summarizes essential components and processes in establishing an effective spike monoclonal antibody infusion program. Rapid identification of a dedicated physical infrastructure was essential to circumvent the logistical challenges of caring for infectious patients while maintaining compliance with regulations and ensuring the safety of our personnel and other patients. Our partnerships and collaborations among multiple different specialties and disciplines enabled contributions from personnel with specific expertise in medicine, nursing, pharmacy, infection prevention and control, electronic health record (EHR) informatics, compliance, legal, medical ethics, engineering, administration, and other critical areas. Clear communication and a culture in which all roles are welcomed at the planning and operational tables are critical to the rapid development and refinement needed to adapt and thrive in providing this time-sensitive beneficial therapy. Our partnerships with leaders and providers outside our institutions, including those who care for underserved populations, have promoted equity in the access of monoclonal antibodies in our regions. Strong support from institutional leadership facilitated expedited action when needed, from a physical, personnel, and system infrastructure standpoint. Our ongoing real-time assessment and monitoring of our clinical program allowed us to improve and optimize our processes to ensure that the needs of our patients with COVID-19 in the outpatient setting are met.
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http://dx.doi.org/10.1016/j.mayocp.2021.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7942148PMC
May 2021

The Development of a Novel Outpatient Infusion Therapy Center for Treatment of COVID-19 in a Rural Healthcare System.

J Prim Care Community Health 2021 Jan-Dec;12:21501327211007020

Mayo Clinic Health System, La Crosse, WI, USA.

Therapeutic interventions to manage symptoms of COVID-19 are continually evolving and being used in a variety of settings. In an attempt to reduce the potential for a high influx of hospital admissions for COVID-19 and mitigate the advancement of COVID-19 disease in infected patients, an outpatient therapy clinic for infusion therapy was established. The focus of the current paper is to outline the development of the outpatient treatment center, provide a detailed summary of workflow and discuss operational challenges and directions for the future.
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http://dx.doi.org/10.1177/21501327211007020DOI Listing
April 2021

Ocular surface indicators and biomarkers in chronic ocular graft-versus-host disease: a prospective cohort study.

Bone Marrow Transplant 2021 Aug 8;56(8):1850-1858. Epub 2021 Mar 8.

National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

This longitudinal cohort study compared ocular surface indicators in forty allogeneic hematopoietic stem cell transplant (HSCT) subjects with twenty healthy controls at baseline and identified changes in ocular graft-versus-host disease (oGVHD). Outcome measures included: Ocular Surface Disease Index (OSDI), tear osmolarity, Schirmer's test, Oxford corneal staining score, tear break-up time (TBUT), and tear and serum biomarkers (IFN-γ, IL-10, MMP-9, IL-12, IL-13, IL-17α, IL-1β, IL-2, IL-4, IL-6, IL-8, CXCL10, MCP-1, MIP-1α, RANTES, TNF-α). At baseline the HSCT group had higher median Oxford corneal staining score (1.7 vs. 0.0; P < 0.0001), higher tear TNF-α (20.0 vs. 11.2 pg/mL; P < 0.0001), lower tear RANTES (70.4 vs. 190.2 pg/mL; P < 0.0001), higher serum IL-8 (10.2 vs. 4.5 pg/mL; P = 0.0008), and higher serum TNF-α (8.7 vs. 4.2 pg/mL; P < 0.0001). The incidence of oGVHD was 62% and associated changes included increased Oxford corneal staining score (4.6 vs. 1.8, P = 0.0001), decreased Schirmer's test (3.0 vs. 10.0; P < 0.0001), and decreased TBUT (4.7 vs. 9.0 s; P = 0.0004). Baseline differences in ocular surface indicators suggest a tendency toward ocular dryness in individuals with hematologic disorders preparing for HSCT. Individuals who developed oGVHD showed changes in corneal staining score, Schirmer's test, and TBUT.
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http://dx.doi.org/10.1038/s41409-021-01254-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8338548PMC
August 2021

Phase 1 study of Z-endoxifen in patients with advanced gynecologic, desmoid, and hormone receptor-positive solid tumors.

Oncotarget 2021 Feb 16;12(4):268-277. Epub 2021 Feb 16.

Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, MD 20892, USA.

Background: Differential responses to tamoxifen may be due to inter-patient variability in tamoxifen metabolism into pharmacologically active Z-endoxifen. Z-endoxifen administration was anticipated to bypass these variations, increasing active drug levels, and potentially benefitting patients responding sub-optimally to tamoxifen.

Materials And Methods: Patients with treatment-refractory gynecologic malignancies, desmoid tumors, or hormone receptor-positive solid tumors took oral Z-endoxifen daily with a 3+3 phase 1 dose escalation format over 8 dose levels (DLs). Safety, pharmacokinetics/pharmacodynamics, and clinical outcomes were evaluated.

Results: Thirty-four of 40 patients were evaluable. No maximum tolerated dose was established. DL8, 360 mg/day, was used for the expansion phase and is higher than doses administered in any previous study; it also yielded higher plasma Z-endoxifen concentrations. Three patients had partial responses and 8 had prolonged stable disease (≥ 6 cycles); 44.4% (8/18) of patients at dose levels 6-8 achieved one of these outcomes. Six patients who progressed after tamoxifen therapy experienced partial response or stable disease for ≥ 6 cycles with Z-endoxifen; one with desmoid tumor remains on study after 62 cycles (nearly 5 years).

Conclusions: Evidence of antitumor activity and prolonged stable disease are achieved with Z-endoxifen despite prior tamoxifen therapy, supporting further study of Z-endoxifen, particularly in patients with desmoid tumors.
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http://dx.doi.org/10.18632/oncotarget.27887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7899551PMC
February 2021

Efficacy and Safety Outcomes of Cataract Surgery in Survivors of Ebola Virus Disease: 12-Month Results From the PREVAIL VII Study.

Transl Vis Sci Technol 2021 01 25;10(1):32. Epub 2021 Jan 25.

National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

Purpose: In survivors of Ebola virus disease (EVD), intraocular viral persistence raises questions about the timing and safety of cataract surgery. To the best of our knowledge, this is the first controlled study evaluating Ebola virus persistence and cataract surgery safety and outcomes in EVD survivors.

Methods: Seropositive EVD survivors and seronegative controls with vision worse than 20/40 from cataract and without active intraocular inflammation were enrolled. Aqueous humor from survivors was tested with reverse transcription-polymerase chain reaction for Ebola viral RNA. Participants underwent manual small-incision cataract surgery and 1 year of follow-up examinations.

Results: Twenty-two eyes of 22 survivors and 12 eyes of eight controls underwent cataract surgery. All of the aqueous samples tested negative for Ebola viral RNA. Median visual acuity improved from 20/200 at baseline to 20/25 at 1 year in survivors and from count fingers to 20/50 in controls (overall, < 0.001; between groups, = 0.07). After a 1-month course of topical corticosteroids, 55% of survivors and 67% of controls demonstrated at least 1+ anterior chamber cell. Twelve months after surgery, optical coherence tomography revealed a median increase in macular central subfield thickness of 42 µm compared with baseline (overall, = 0.029; between groups, = 0.995).

Conclusions: EVD survivors and controls demonstrated significant visual improvement from cataract surgery. The persistence of intraocular inflammation highlights the importance of follow-up. The absence of detectable intraocular Ebola viral RNA provides guidance regarding the safety of eye surgery in Ebola survivors.

Translational Relevance: These findings demonstrate the safety and efficacy of cataract surgery in Ebola survivors and will inform ocular surgery guidelines in this population.
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http://dx.doi.org/10.1167/tvst.10.1.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838547PMC
January 2021

Characterization of Ebola Virus-Associated Eye Disease.

JAMA Netw Open 2021 01 4;4(1):e2032216. Epub 2021 Jan 4.

National Public Health Institute of Liberia, Monrovia, Liberia.

Importance: Survivors of Ebola virus disease (EVD) may experience ocular sequelae. Comparison with antibody-negative individuals from the local population is required to characterize the disease.

Objective: To assess features of ophthalmic disease specific to EVD.

Design, Setting, And Participants: This baseline cross-sectional analysis of survivors of EVD and their close contacts was conducted within PREVAIL III, a 5-year, longitudinal cohort study. Participants who enrolled at John F. Kennedy Medical Center in Liberia, West Africa from June 2015 to March 2016 were included in this analysis. Close contacts were defined as household members or sex partners of survivors of EVD. Data were analyzed from July 2016 to July 2020.

Exposures: All participants, both survivors and close contacts, underwent testing of IgG antibody levels against Ebola virus surface glycoprotein.

Main Outcomes And Measures: Ocular symptoms, anterior and posterior ophthalmologic examination findings, and optical coherence tomography images were compared between antibody-positive survivors and antibody-negative close contacts.

Results: A total of 564 antibody-positive survivors (320 [56.7%] female; mean [SD] age, 30.3 [14.0] years) and 635 antibody-negative close contacts (347 [54.6%] female; mean [SD] age, 25.8 [15.5] years) were enrolled in this study. Survivors were more likely to demonstrate color vision deficit (28.9% vs 19.0%, odds ratio [OR], 1.6; 95% CI, 1.2-2.1) and lower intraocular pressure (12.4 vs 13.5 mm Hg; mean difference, -1.2 mm Hg; 95% CI, -1.6 to -0.8 mm Hg) compared with close contacts. Dilated fundus examination revealed a higher percentage of vitreous cells (7.8% vs 0.5%; OR, 16.6; 95% CI, 5.0-55.2) and macular scars (4.6% vs 1.6%; OR, 2.8; 95% CI, 1.4-5.5) in survivors than in close contacts. Uveitis was present in 26.4% of survivors and 12.1% of close contacts (OR, 2.4; 95% CI, 1.8-3.2). Among all participants with uveitis, survivors were more likely than close contacts to have intermediate uveitis (34.2% vs 6.5% of all cases; OR, 7.8; 95% CI, 3.1-19.7) and had thicker mean central subfield thickness on optical coherence tomography (222 vs 212 μm; mean difference, 14.4 μm; 95% CI, 1.9-26.9 μm).

Conclusions And Relevance: In this cross-sectional study, survivors of EVD had a distinct spectrum of ocular and neuro-ophthalmologic findings compared with close contacts that potentially require medical and surgical treatment.
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http://dx.doi.org/10.1001/jamanetworkopen.2020.32216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7786253PMC
January 2021

Corneal thinning and cornea guttata in patients with mutations in TGFB2.

Can J Ophthalmol 2020 08 16;55(4):336-341. Epub 2020 Apr 16.

National Institute of Allergy and Infectious Diseases, Bethesda, MD.

Objective: Human genome-wide association studies and animal models suggest a role for TGFB2 in contributing to the corneal thickness phenotype. No specific mutations, however, have been reported in this gene that affect corneal thickness. We sought to determine if haploinsufficiency of TGFB2 in humans associated with Loeys-Dietz syndrome type 4 is associated with corneal thinning.

Design: Observational cohort study of families with Loeys-Dietz syndrome type 4, caused specifically by TGFB2 mutations, in a tertiary care setting.

Participants: Three probands with pathogenic mutations in TGFB2 and family members underwent comprehensive ophthalmic examination.

Methods: Clinical assessment included Scheimpflug imaging, specular microscopy, and slit-lamp biomicroscopy. We measured visual acuity, axial length, refractive error, and central corneal thickness.

Results: Clinical evaluation of 2 probands identified corneal thinning and cornea guttata, despite a young age and distinct mutations in TGFB2 (c.905G>A, p.Arg302His; c.988C>A, p.Arg330Ser). In the third family, corneal thinning co-segregated with a TGFB2 mutation (c.1103G>A, p.Gly368Glu), although without apparent guttae.

Conclusions: In this series, participants with TGFB2 mutations associated with Loeys-Dietz syndrome type 4 demonstrated decreased corneal thickness, and in 2 cases with splice site mutations, also demonstrated cornea guttata. The data demonstrate the importance of considering distinct phenotype-genotype correlations within this condition.
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http://dx.doi.org/10.1016/j.jcjo.2020.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8049842PMC
August 2020

Prospective International Study of Incidence and Predictors of Immune Reconstitution Inflammatory Syndrome and Death in People Living With Human Immunodeficiency Virus and Severe Lymphopenia.

Clin Infect Dis 2020 07;71(3):652-660

Kenya Medical Research Institute/US Army Medical Research Directorate-Africa-Kenya/ Henry Jackson Foundation Medical Research International, Kericho Clinical Research Center, Kenya.

Background: Patients living with human immunodeficiency virus (PLWH) with low CD4 counts are at high risk for immune reconstitution inflammatory syndrome (IRIS) and death at antiretroviral therapy (ART) initiation.

Methods: We investigated the clinical impact of IRIS in PLWH and CD4 counts <100 cells/μL starting ART in an international, prospective study in the United States, Thailand, and Kenya. An independent review committee adjudicated IRIS events. We assessed associations between baseline biomarkers, IRIS, immune recovery at week 48, and death by week 48 with Cox models.

Results: We enrolled 506 participants (39.3% were women). Median age was 37 years, and CD4 count was 29 cells/μL. Within 6 months of ART, 97 (19.2%) participants developed IRIS and 31 (6.5%) died. Participants with lower hemoglobin at baseline were at higher IRIS risk (hazard ratio [HR], 1.2; P = .004). IRIS was independently associated with increased risk of death after adjustment for known risk factors (HR, 3.2; P = .031). Being female (P = .004) and having a lower body mass index (BMI; P = .003), higher white blood cell count (P = .005), and higher D-dimer levels (P = .044) were also significantly associated with increased risk of death. Decision-tree analysis identified hemoglobin <8.5 g/dL as predictive of IRIS and C-reactive protein (CRP) >106 μg/mL and BMI <15.6 kg/m2 as predictive of death.

Conclusions: For PLWH with severe immunosuppression initiating ART, baseline low BMI and hemoglobin and high CRP and D-dimer levels may be clinically useful predictors of IRIS and death risk.
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http://dx.doi.org/10.1093/cid/ciz877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7384325PMC
July 2020

Ocular Adverse Events following Use of Immune Checkpoint Inhibitors for Metastatic Malignancies.

Ocul Immunol Inflamm 2020 Aug 23;28(6):854-859. Epub 2019 Apr 23.

Department of Ophthalmology, National Eye Institute , Bethesda, USA.

Purpose: To report the clinical features, severity, and management of ocular immune-related adverse events (irAEs) in the setting of immune checkpoint inhibitor therapy for metastatic malignancies.

Methods: Retrospective chart review at three tertiary ophthalmology clinics. Electronic medical records were reviewed between 2000 and 2017 for patients with new ocular symptoms while undergoing checkpoint inhibition therapy.

Results: Eleven patients were identified. Ocular irAEs ranged from keratoconjunctivitis sicca to Vogt-Koyanagi-Harada-like findings. Average timing of irAEs from starting checkpoint inhibitor therapy was 15.7 weeks. Ocular inflammation was successfully controlled with corticosteroids in most cases, however three patients discontinue treatment as a result of ocular inflammation with decreased visual acuity, two discontinued due to progression of metastatic disease, and one discontinued due to severe systemic irAEs.

Conclusion: We found a wide spectrum of ocular irAEs associated with immune checkpoint inhibitors. In most cases, ocular AEs did not limit ongoing cancer treatment.
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http://dx.doi.org/10.1080/09273948.2019.1583347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130843PMC
August 2020

Invasive fusariosis masquerading as extramedullary disease in rapidly progressive acute lymphoblastic leukemia.

Pediatr Blood Cancer 2019 07 22;66(7):e27732. Epub 2019 Mar 22.

Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

Invasive fusariosis (IF) most commonly occurs in patients with hematologic malignancies and severe neutropenia, particularly during concomitant corticosteroid use. Breakthrough infections can occur in high-risk patients despite Aspergillus-active antifungal prophylaxis. We describe a patient with rapid acute lymphoblastic leukemia (ALL) progression who presented with multifocal skin nodules thought to be choloromatous disease. These lesions were ultimately diagnosed as IF and the patient had two simultaneously active disease processes. This case highlights the importance of pathologic diagnosis of new skin lesions in ALL patients, even during leukemia progression, and demonstrates that IF can occur despite normal neutrophil counts and Aspergillus-active prophylaxis.
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http://dx.doi.org/10.1002/pbc.27732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8237328PMC
July 2019

A Longitudinal Study of Ebola Sequelae in Liberia.

N Engl J Med 2019 03;380(10):924-934

The affiliations of the members of the writing committee are as follows: National Institutes of Health, Bethesda (M.C.S., R.J.B., L.E.H., E.S.H., A.N., K.T., J.V., K.S.J., B.D.-K., H.C.L.), and Johns Hopkins University, Ophthalmology, Baltimore (A.O.E.) - both in Maryland; Division of Biostatistics, University of Minnesota, Minneapolis (C.R., J.D.N.); and Liberian Ministry of Health (M.B., M.P.F.) and John F. Kennedy Medical Center (S.J.M.), Monrovia, the Duport Road Clinic, Paynesville (D.G.-D.), and C.H. Rennie Hospital, Kakata (K.L.J.) - all in Liberia.

Background: Multiple health problems have been reported in survivors of Ebola virus disease (EVD). Attribution of these problems to the disease without a control group for analysis is difficult.

Methods: We enrolled a cohort of EVD survivors and their close contacts and prospectively collected data on symptoms, physical examination findings, and laboratory results. A subset of participants underwent ophthalmologic examinations. Persistence of Ebola virus (EBOV) RNA in semen samples from survivors was determined.

Results: A total of 966 EBOV antibody-positive survivors and 2350 antibody-negative close contacts (controls) were enrolled, and 90% of these participants were followed for 12 months. At enrollment (median time to baseline visit, 358 days after symptom onset), six symptoms were reported significantly more often among survivors than among controls: urinary frequency (14.7% vs. 3.4%), headache (47.6% vs. 35.6%), fatigue (18.4% vs. 6.3%), muscle pain (23.1% vs. 10.1%), memory loss (29.2% vs. 4.8%), and joint pain (47.5% vs. 17.5%). On examination, more survivors than controls had abnormal abdominal, chest, neurologic, and musculoskeletal findings and uveitis. Other than uveitis (prevalence at enrollment, 26.4% vs. 12.1%; at year 1, 33.3% vs. 15.4%), the prevalence of these conditions declined during follow-up in both groups. The incidence of most symptoms, neurologic findings, and uveitis was greater among survivors than among controls. EBOV RNA was detected in semen samples from 30% of the survivors tested, with a maximum time from illness to detection of 40 months.

Conclusions: A relatively high burden of symptoms was seen in all participants, but certain symptoms and examination findings were more common among survivors. With the exception of uveitis, these conditions declined in prevalence during follow-up in both groups. Viral RNA in semen persisted for a maximum of 40 months. (Funded by the National Institute of Allergy and Infectious Diseases and the National Eye Institute; PREVAIL III ClinicalTrials.gov number, NCT02431923.).
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http://dx.doi.org/10.1056/NEJMoa1805435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478393PMC
March 2019

Patient-Provider Sexually Transmitted Infection Prevention Communication among Young Adult Sexual Minority Cisgender Women and Nonbinary Assigned Female at Birth Individuals.

Womens Health Issues 2019 Jul - Aug;29(4):308-314. Epub 2019 Feb 26.

Department of Community Health, Tufts University, Medford, Massachusetts.

Background: Health care providers are an important source of sexually transmitted infection (STI) prevention information for young adult sexual minority women (SMW). However, very few studies have described patient-provider STI communication in this understudied and underserved population. We explore sexual minority women's experiences communicating with health care providers about sexual health, with particular attention to STI prevention, to inform programs and practices that address their unique needs and concerns.

Methods: We conducted 29 in-depth interviews with sexual minority cisgender women and nonbinary assigned female at birth (AFAB) individuals aged 18-36 years. The sample included White (55%), Asian (31%), Black (17.2%), and Latina (3.4%) participants. We used thematic analysis with deductive and inductive coding to identify themes related to patient-provider STI prevention communication.

Results: Heteronormative health care provider assumptions inhibited participants' willingness to disclose their sexual orientation and discuss sexual health issues with providers. Most sexual health conversations focused on pregnancy and contraception, which many felt was irrelevant to them, and limited STI prevention recommendations to condom use. Participants reported that some providers lacked medical knowledge on AFAB-to-AFAB STI transmission and were not able to provide relevant STI prevention information. Providers' bias related to gender identity and race/ethnicity furthered some participants' mistrust generated from providers' heteronormative assumptions.

Conclusions: Our study describes several barriers that AFAB sexual minorities felt inhibited their patient-provider sexual health communication. Interventions are needed to improve patient-provider STI prevention conversations with AFAB sexual minorities so they can access the sexual health information they need to effectively protect themselves from STIs.
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http://dx.doi.org/10.1016/j.whi.2019.01.002DOI Listing
June 2020

Human Papillomavirus Risk Perceptions Among Young Adult Sexual Minority Cisgender Women and Nonbinary Individuals Assigned Female at Birth.

Perspect Sex Reprod Health 2019 03 12;51(1):27-34. Epub 2019 Feb 12.

Department of Social and Behavioral Sciences, Harvard T.H. Chan School of Public Health, Boston.

Context: Some sexual minority women may be less likely than other women to engage in human papillomavirus (HPV) prevention behaviors. Although risk perceptions have been found to be associated with health behaviors, HPV risk perceptions among U.S. sexual minority women have not been examined.

Methods: In 2016-2017, in-depth interviews were conducted in Boston with 29 sexual minority individuals aged 18-36 who were assigned female at birth (AFAB) and identified as women or nonbinary. Purposive sampling was used to recruit participants online, through community-based and student organizations, and by word of mouth. Thematic analysis was employed to examine participants' HPV risk perceptions.

Results: Participants incorrectly linked HPV risk to the exchange of genital fluids, and a hierarchy of perceived risk emerged in relation to sexual orientation: Individuals who engage in penile-vaginal sex with partners who were assigned male at birth (AMAB) were perceived to be at highest risk, and lesbians and individuals with only AFAB partners were perceived to be at low risk. Lesbians and participants with only AFAB partners identified sex with bisexual women or AFAB individuals with AMAB partners as a risk factor for HPV infection. Risk perceptions were shaped by health care providers' linking HPV risk to sex with AMAB individuals, a lack of discussion of HPV with parents and peers, and the exclusion of information on HPV and sexual minority women from school-based sex education.

Conclusion: Interventions providing sexual minority AFAB individuals with comprehensive, accurate and tailored information about HPV risk are needed.
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http://dx.doi.org/10.1363/psrh.12087DOI Listing
March 2019

DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.

Ophthalmology 2019 02 17;126(2):296-304. Epub 2018 Oct 17.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

Purpose: To characterize the ocular phenotype of DICER1 syndrome.

Design: Prospective, single-center, case-control study.

Participants: One hundred three patients with an identified germline pathogenic DICER1 variant (DICER1 carriers) and 69 family control participants underwent clinical and ophthalmic examination at the National Institutes of Health between 2011 and 2016.

Methods: All participants were evaluated with a comprehensive ophthalmic examination, including best-corrected visual acuity, slit-lamp biomicroscopy, and a dilated fundus examination. A subset of patients returned for a more detailed evaluation including spectral-domain OCT, color fundus photography, fundus autofluorescence imaging, visual field testing, full-field electroretinography, and genetic testing for inherited retinal degenerative diseases.

Main Outcome Measures: Visual acuity and examination findings.

Results: Most DICER1 carriers (97%) maintained a visual acuity of 20/40 or better in both eyes. Twenty-three DICER1 carriers (22%) showed ocular abnormalities compared with 4 family controls (6%; P = 0.005). These abnormalities included retinal pigment abnormalities (n = 6 [5.8%]), increased cup-to-disc ratio (n = 5 [4.9%]), optic nerve abnormalities (n = 2 [1.9%]), epiretinal membrane (n = 2 [1.9%]), and drusen (n = 2 [1.9%]). Overall, we observed a significant difference (P = 0.03) in the rate of retinal abnormalities in DICER1 carriers (n = 11 [11%]) versus controls (n = 1 [1.5%]). One patient demonstrated an unexpected diagnosis of retinitis pigmentosa with a novel variant of unknown significance in PRPF31, and 1 showed optic nerve elevation in the setting of increased intracranial pressure (ICP) of unclear cause. Three patients (3%) demonstrated DICER1-related ciliary body medulloepithelioma (CBME), 2 of which were identified during routine examination, a higher rate than that reported previously.

Conclusions: Ophthalmologists should be aware of the ophthalmic manifestations of DICER1 syndrome, and individuals and families should be counseled on the potential signs and symptoms. We recommend that children with a germline pathogenic variant in DICER1, especially those younger than 10 years, undergo annual dilated ophthalmic examination, looking for evidence of CBME, signs of increased ICP, and perhaps changes in the retinal pigment epithelium.
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http://dx.doi.org/10.1016/j.ophtha.2018.09.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348055PMC
February 2019

Upbeat nystagmus in an HIV-positive patient with a tuberculoma in the medulla.

Lancet Infect Dis 2018 02;18(2):225

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/S1473-3099(17)30470-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7457776PMC
February 2018

First-in-human study of the epichaperome inhibitor PU-H71: clinical results and metabolic profile.

Invest New Drugs 2018 04 12;36(2):230-239. Epub 2017 Aug 12.

Division of Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Background Molecular chaperone targeting has shown promise as a therapeutic approach in human cancers of various histologies and genetic backgrounds. The purine-scaffold inhibitor PU-H71 (NSC 750424), selective for Hsp90 in epichaperome networks, has demonstrated antitumor activity in multiple preclinical cancer models. The present study was a first in-human trial of PU-H71 aimed at establishing its safety and tolerability and characterizing its pharmacokinetic (PK) profile on a weekly administration schedule in human subjects with solid tumors refractory to standard treatments. Methods PU-H71 was administered intravenously over 1 h on days 1 and 8 of 21-day cycles in patients with refractory solid tumors. Dose escalation followed a modified accelerated design. Blood and urine were collected during cycles 1 and 2 for pharmacokinetics analysis. Results Seventeen patients were enrolled in this trial. Grade 2 and 3 adverse events were observed but no dose limiting toxicities occurred, thus the human maximum tolerated dose was not determined. The mean terminal half-life (T) was 8.4 ± 3.6 h, with no dependency to dose level. A pathway for the metabolic disposal of PU-H71 in humans was derived from microsome studies. Fourteen patients were also evaluable for clinical response; 6 (35%) achieved a best response of stable disease for >2 cycles, with 2 patients remaining on study for 6 cycles. The study closed prematurely due to discontinuation of drug supply. Conclusions PU-H71 was well tolerated at the doses administered during this study (10 to 470 mg/m/day), with no dose limiting toxicities.
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http://dx.doi.org/10.1007/s10637-017-0495-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126370PMC
April 2018

Hospital Inpatient Costs for Single Ventricle Patients Surviving the Fontan Procedure.

Am J Cardiol 2017 Aug 11;120(3):467-472. Epub 2017 May 11.

Heart Research Group, Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Cardiac Surgery, Royal Children's Hospital, Melbourne, VIC, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia. Electronic address:

We estimated the inpatient resource use for a Fontan patient from birth to adulthood and explored factors that might induce cost differences (2014 US dollar). Inpatient costing records from 4 hospitals with greatest numbers of Fontan patients in Australia and New Zealand were linked with the Fontan registry database. Inpatient records between July 1995 and September 2014 for 420 Fontan patients were linked, and the most frequent primary diagnoses were hypoplastic left heart syndrome (20.7%), tricuspid atresia (19.7%), and double inlet left ventricle (17.1%). The mean hospital cost for a Fontan patient from birth to 18 years of age was estimated to be $390,601 (95% confidence interval [CI] $264,703 to $516,499), corresponding to 164 (95% CI 98 to 231) inpatient days. The cost incurred from birth through to Fontan completion (the staged procedures period) was $219,482 (95% CI $202,410 to $236,553) and the cost thereafter over 15 years was $146,820 (95% CI $44,409 to $249,231), corresponding to 82 (95% CI 72 to 92) and 65 (95% CI 18 to 112) inpatient days, respectively. Costs were higher in male and hypoplastic left heart syndrome patients in the staged procedures period (p <0.001). Having fenestration was associated with higher costs in the staged procedures period (p <0.001) and lower cost after Fontan over 15 years (p = 0.66). In conclusion, patients with single ventricle congenital heart disease continue to demand considerable inpatient resources after the staged procedures period. Over 40% of the pediatric hospital costs for Fontan patients were estimated to occur after the last planned surgery.
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http://dx.doi.org/10.1016/j.amjcard.2017.04.049DOI Listing
August 2017

Ocular Complications of Infantile Nephropathic Cystinosis.

Authors:
Rachel Bishop

J Pediatr 2017 04;183S:S19-S21

National Eye Institute, National Institutes of Health, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.12.055DOI Listing
April 2017

Selumetinib in Plexiform Neurofibromas.

N Engl J Med 2017 03;376(12):1195

National Cancer Institute, Bethesda, MD.

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http://dx.doi.org/10.1056/NEJMc1701029DOI Listing
March 2017

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

JCI Insight 2016 Aug;1(13)

Undiagnosed Diseases Program, Common Fund, NIH Office of the Director and National Human Genome Research Institute, Bethesda, Maryland, USA.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous mutations. It classically presents with chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues; hypoparathyroidism and adrenal insufficiency are most common. Developing any two of these classic triad manifestations establishes the diagnosis. Although widely recognized in Europe, where nonendocrine autoimmune manifestations are uncommon, APECED is less defined in patients from the Western Hemisphere. We enrolled 35 consecutive American APECED patients (33 from the US) in a prospective observational natural history study and systematically examined their genetic, clinical, autoantibody, and immunological characteristics. Most patients were compound heterozygous; the most common mutation was c.967_979del13. All but one patient had anti-IFN-ω autoantibodies, including 4 of 5 patients without biallelic mutations. Urticarial eruption, hepatitis, gastritis, intestinal dysfunction, pneumonitis, and Sjögren's-like syndrome, uncommon entities in European APECED cohorts, affected 40%-80% of American cases. Development of a classic diagnostic dyad was delayed at mean 7.38 years. Eighty percent of patients developed a median of 3 non-triad manifestations before a diagnostic dyad. Only 20% of patients had their first two manifestations among the classic triad. Urticarial eruption, intestinal dysfunction, and enamel hypoplasia were prominent among early manifestations. Patients exhibited expanded peripheral CD4 T cells and CD21CD38 B lymphocytes. In summary, American APECED patients develop a diverse syndrome, with dramatic enrichment in organ-specific nonendocrine manifestations starting early in life, compared with European patients. Incorporation of these new manifestations into American diagnostic criteria would accelerate diagnosis by approximately 4 years and potentially prevent life-threatening endocrine complications.
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http://dx.doi.org/10.1172/jci.insight.88782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004733PMC
August 2016

Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS).

Ocul Immunol Inflamm 2017 Oct 26;25(5):703-709. Epub 2016 May 26.

a National Eye Institute, National Institutes of Health , Bethesda , Maryland , USA.

Purpose: To describe inflammatory ocular findings in patients with autoimmune lymphoproliferative syndrome (ALPS).

Methods: A retrospective review of medical records for ALPS patients seen at the National Eye Institute between 2003 and 2013.

Results: A total of 29 ALPS patients previously referred for ocular or visual symptoms or with a history of prolonged corticosteroid use, were identified. Mean age was 20 years (range: 4-66 years). The majority were male (n = 21, 72.4%) and Caucasian (n = 24, 82.8%). Ten (34.5%) had abnormal ocular findings, the most common of which was an ocular inflammatory disorder (n = 4, 13.8%). Uveitis was seen in two patients with ALPS-FAS and one with ALPS-U, all of whom required long-term systemic immunosuppression. One patient with ALPS-FAS had a history of optic neuritis.

Conclusions: ALPS can have intraocular inflammatory manifestations that require routine follow-up to ensure appropriate and timely treatment of intraocular disease. Long-term immunosuppression may be needed for patients with ALPS-associated uveitis.
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http://dx.doi.org/10.1080/09273948.2016.1175637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078095PMC
October 2017
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