Browsing by Author "Nabhan, Zeina M."

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    Advancing Equity in Graduate Medical Education Recruitment Through a Diversity Equity and Inclusion (DEI) Toolkit for Program Directors
    (Sage, 2023-10-09) Nabhan, Zeina M.; Scott, Nicole; Kara, Areeba; Mullis, Leilani; Dams, Travis; Giblin, Mark; Williamson, Francesca; Wright, Curtis; Pediatrics, School of Medicine
    Objectives: To increase diversity and inclusion in graduate medical education (GME), the Accreditation Council for Graduate Medical Education (ACGME) issued new diversity standards requiring programs to engage in practices that focus on systematic recruitment and retention of a diverse workforce of trainees and faculty. The literature on how program directors (PDs) can incorporate and prepare for this standard is limited. Methods: We developed a diversity, equity, and inclusion (DEI) toolkit for PDs as an example of an institutional GME-led effort to promote inclusive recruitment and DEI awareness among residency and fellowship programs at a large academic center. Results: A survey was sent to 80 PDs before the launch of the toolkit and 6 months afterwards with response rates of 27% (22/80) and 97% (78/80), respectively. At baseline, 45% (10/22) anticipated that the DEI toolkit might provide better resources than those currently available to them and 41% (9/22) perceived that the toolkit might improve recruitment outcomes. At 6 months, 63% (49/78) found the toolkit helpful in the 2021-2022 recruitment season. By contrast, 2% (2/78) of PDs did not find the toolkit helpful, and 33% (26/78) said they did not access the toolkit. When asked if a PD changed their program's recruitment practices because of the toolkit, 31% (24/78) responded yes. Programs that changed recruitment practices started to require unconscious bias training for all faculty and residents involved in the residency interviews and ranking. Others worked on creating a standardized scoring rubric for interviews focused on four main domains: Experiences, Attributes, Competencies, and Academic Metrics. Conclusion: There is a need to support PDs in their DEI journey and their work to recruit a diverse workforce in medicine. Utilizing a DEI toolkit is one option to increase DEI knowledge, skills, awareness, and self-efficacy among PDs and can be adopted by other institutions and leaders in academic medicine.
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    Characterization of Spontaneous and Induced Puberty in Girls with Turner Syndrome
    (American Association of Clinical Endocrinologists, 2017-07) Folsom, Lisal J.; Slaven, James E.; Nabhan, Zeina M.; Eugster, Erica A.; Medicine, School of Medicine
    OBJECTIVE: To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. METHODS: Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. RESULTS: Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (P<.01) and were more likely to have mosaic TS (P = .02). CONCLUSION: Significant variability in the timing of menarche exists among girls with TS. However, age at pubertal induction and karyotype were significantly correlated with age at menarche in our patients. A wide range of estrogen doses is seen in girls who bleed prior to progesterone, suggesting extreme variability in estrogen sensitivity among patients with TS. Girls achieving spontaneous menarche are younger and more likely to have a mosaic karyotype than those with induced menarche. Large-scale prospective studies are needed to confirm these results.
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    Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia
    (BioMed Central, 2016) Nebesio, Todd D.; Renbarger, Jamie L.; Nabhan, Zeina M.; Ross, Sydney E.; Slaven, James E.; Li, Lang; Walvoord, Emily C.; Eugster, Erica A.; Department of Pediatrics, IU School of Medicine
    BACKGROUND: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics. METHODS: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI). Single nucleotide polymorphism (SNP) analysis of genes in the glucocorticoid pathway was also performed. RESULTS: Nine prepubertal subjects aged 8.1 ± 2.3 years completed the study. Mean ACTH, androstenedione, and 17-hydroxyprogesterone (17-OHP) values were lower following the DEX arm of the study than after subjects received HC (p ≤ 0.016) or PDN (p ≤ 0.002). 17-OHP was also lower after HC than PDN (p < 0.001). There was no difference in IGF-1, GH, or change in BMI. SNP analysis revealed significant associations between hormone concentrations, pharmacokinetic parameters, and variants in several glucocorticoid pathway genes (ABCB1, NR3C1, IP013, GLCCI1). CONCLUSIONS: DEX resulted in marked adrenal suppression suggesting that its potency relative to hydrocortisone and prednisone was underestimated. SNPs conferred significant differences in responses between subjects. Although preliminary, these pilot data suggest that incorporating pharmacogenetics has the potential to eventually lead to targeted therapy in children with CAH.
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    Engaging All Stakeholders to Create a Trusted, Data-Driven, Process Improvement Approach to Addressing Learner Mistreatment
    (Taylor & Francis, 2022-09-15) Walvoord, Emily C.; Howenstine, Michelle S.; Allen, Bradley L.; Ribera, Amy K.; Nabhan, Zeina M.; Tori, Alvaro J.; Eichholtz, Rebekah D.; Dankoski, Mary E.; Family Medicine, School of Medicine
    Problem: Learner mistreatment has remained an ongoing challenge in academic medicine despite accreditation requirements mandating that every program has systems in place to prevent and respond to mistreatment. While efforts vary across institutions, much remains unanswered in the literature about best practices. Additionally, for the foreseeable future, challenges in the learning environment will likely continue and potentially worsen, given the confluence of multiple external stressors including the COVID-19 pandemic, faculty burnout and general political divisiveness in the nation. It is essential, therefore, to focus on indicators of improvement via process metrics such as knowledge and awareness of mistreatment policies and procedures, willingness to report, reasons for not reporting, and satisfaction with having made a report, while simultaneously focusing on the more complex challenge of eliminating mistreatment occurrences. Intervention: We describe the aspects of our mistreatment prevention and response system first implemented in 2017 along with process and outcome measures. The interventions included expanding our policy outlining appropriate conduct in the teacher-learner relationship; a graduated response protocol to allegations of mistreatment with a clear escalation approach; an online reporting system; a graduate medical education exit survey which mirrors the AAMC Graduation Questionnaire on mistreatment; a robust communication and professional development campaign; a comprehensive data dashboard; and a comprehensive summary report dissemination plan. Context: The interventions were implemented at the largest allopathic medical school in the U.S., with nine campuses across the state. The system is available to all learners, including medical students, graduate students, residents, and fellows. Impact: Both institutional and national data sources have informed the continuous improvement strategies. Data from internal reporting systems, institutional surveys, and national data are presented from 2017 to 2021. Findings include an increasing number of incidents reported each year, including confidential reports from students who include their contact information rather than report anonymously, which we view as an indicator of learner trust in the system. Our data also show consistent improvements in learners’ awareness of the policy and procedures and satisfaction with having made a report. We also include other data such as the nature of complaints submitted and timeliness of our institutional response. Lessons Learned: We present several lessons learned that may guide other institutions looking to similarly improve their mistreatment systems, such as a close partnership between faculty affairs, diversity affairs, and educational affairs leadership; communication, professional development, and training through multiple venues and with all stakeholders; easily accessible reporting with anonymous and confidential options and the ability to report on behalf of others; policy development guidance; data transparency and dissemination; and trust-building activities and ongoing feedback from learners.
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    Testotoxicosis with an episodic course: an unusual case within a series
    (Association for the Advancement of Computing in Education, 2019-01) Nabhan, Zeina M.; Eugster, Erica A.; Pediatrics, School of Medicine
    Objective: To describe an unusual case of familial male precocious puberty (FMPP) characterized by periodic remission compared to a series of boys with typical testotoxicosis. Methods: Medical records of boys with FMPP followed at our institution from 2001–2017 were reviewed. Variables analyzed included age, family history, physical exam, hormone levels, bone age, and treatment. Results: A boy of age 2 years 10 months presented with growth acceleration and masturbatory behaviors. On exam, he had 6-mL testes, an enlarged phallus (10.5 × 2.5 cm), and Tanner 2 pubic hair. Testosterone was 242 ng/dL (normal level, ≤30 ng/dL). Genetic testing revealed an Asp578Gly luteinizing hormone receptor mutation confirming FMPP. Anastrozole 1 mg and bicalutamide 50 mg daily were started. During 7.5 years of follow-up, two periods of spontaneous remission occurred lasting >3 years and 10 months, respectively. Both were characterized by prepubertal testosterone levels (10 to 28 ng/dL) and arrested pubertal development off therapy. Relapses were marked by elevated testosterone, growth acceleration, and pubertal progression. Ten additional boys aged 3.46 ± 0.72 years with FMPP were identified, one of whom also had an Asp578Gly mutation. Average testosterone at presentation was 335 ± 193 ng/dL (range, 146 to 778 ng/dL) and average bone age/chronologic age was 2.02 ± 0.47. All were treated with bicalutamide and anastrozole or letrozole. Conclusion: We report a case of intermittent FMPP in contrast to a series of boys with a characteristic clinical course. To our knowledge, a similar case has not previously been reported. Our case expands the clinical spectrum of this rare condition.
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    Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)
    (Elsevier, 2021) Luna, Sofia E.; Wegner, Daniel J.; Gale, Sarah; Yang, Ping; Hollander, Abby; St. Dennis-Feezle, Lori; Nabhan, Zeina M.; Ory, Daniel S.; Cole, F. Sessions; Wambach, Jennifer A.; Pediatrics, School of Medicine
    Pathogenic biallelic variants in HSD17B3 result in 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency, variable disruption of testosterone production, and phenotypic diversity among 46, XY individuals with differences of sexual development (DSDs). We performed quad whole exome sequencing (WES) on two male siblings with microphallus, perineal hypospadias, and bifid scrotum and their unaffected parents. Both male siblings were compound heterozygous for a rare pathogenic HSD17B3 variant (c.239 G > A, p.R80Q) previously identified among individuals with 17β-HSD3 deficiency and a HSD17B3 variant (c.641A > G, p.E214 G) of uncertain significance. Following WES, the siblings underwent hCG stimulation testing with measurement of testosterone, androstenedione, and dihydrotestosterone which was non-diagnostic. To confirm pathogenicity of the HSD17B3 variants, we performed transient transfection of HEK-293 cells and measured conversion of radiolabeled androstenedione to testosterone. Both HSD17B3 variants decreased conversion of radiolabeled androstenedione to testosterone. As pathogenic HSD17B3 variants are rare causes of 46, XY DSD and hCG stimulation testing may not be diagnostic for 17β-HSD3 deficiency, WES in 46, XY individuals with DSDs can increase diagnostic yield and identify genomic variants for functional characterization of disruption of testosterone production.