Dr. Stafford specializes in Pediatric Endocrinology with special interest in disorders of puberty and Prader-Willi syndrome (PWS). Her research interests include in medical education curriculum development, faculty development and endocrine dysfunction in PWS.
- Pediatric Endocrinology
- Prader-Willi syndrome
- Disorders of puberty
Clinical Professor, Pediatrics - Endocrinology and Diabetes
Associate Program Director, Division of Endocrinology and Diabetes (2018 - Present)
Associate Chief, Division of Endocrinology and Diabetes (2018 - Present)
Honors & Awards
Best of Boston, Best Pediatric Endocrinologists, Boston Magazine (2015-2018)
Visiting Medical Educator, Human Resources for Health, Rwanda (2013, 2016, 2017)
Rabkin Fellowship in Medical Education, Beth Israel Deaconess Medical Center, Boston, MA (2011-2012)
Boards, Advisory Committees, Professional Organizations
Member, Training Council, Pediatric Endocrine Society (2010 - 2021)
Member, International Relations Committee, Pediatric Endocrine Society (2015 - 2020)
Co-Chair, Nominating Committee, Pediatric Endocrine Society (2018 - 2021)
Chair, Executive Committee, PWS CLIC (Clinical Investigation Collaborative) (2022 - Present)
Chair, Training Council and Program Directors Committee, Pediatric Endocrine Society (2014 - 2017)
Medical Education: University of Connecticut School of Medicine Registrar (1992) CT
Residency: Lucile Packard Children's Hospital at Stanford University Medical Center (1995) CA
Fellowship: Boston Children's Hospital (1999) MA
Board Certification: American Board of Pediatrics, Pediatric Endocrinology (1999)
Community and International Work
Human Resources for Health, Rwanda, Kigali, Rwanda
Ministry of Health, Rwanda
Pediatric Residency Program,
Opportunities for Student Involvement
Additional Clinical Info
A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome
The purpose of this is study is to evaluate the effects of DCCR (diazoxide choline controlled release tablets) in children and adults with Prader-Willi syndrome.
A Study of Oral ARD-101 in Patients With Prader-Willi Syndrome
A Phase 2, Single-Arm, Open-Label Study to Evaluate the Safety and Efficacy of ARD-101 in Patients with Prader-Willi Syndrome
Graduate and Fellowship Programs
Pediatric Endocrinology (Fellowship Program)
Exploring Factors for Implementation of EPAs in Pediatric Subspecialty Fellowships: A Qualitative Study of Program Directors.
Journal of medical education and curricular development
2024; 11: 23821205231225011
To understand fellowship program directors' (FPDs) perspectives on facilitators and barriers to using entrustable professional activities (EPAs) in pediatric subspecialty training.We performed a qualitative study of FPDs, balancing subspecialty, program size, geographic region and current uses of EPAs. A study coordinator conducted 1-on-1 interviews using a semistructured approach to explore EPA use or nonuse and factors supporting or preventing their use. Investigators independently coded transcribed interviews using an inductive approach and the constant comparative method. Group discussion informed code structure development and refinement. Iterative data collection and analysis continued until theoretical sufficiency was achieved, yielding a thematic analysis.Twenty-eight FPDs representing 11 pediatric subspecialties were interviewed, of whom 16 (57%) reported current EPA use. Five major themes emerged: (1) facilitators including the intuitive nature and simple wording of EPAs; (2) barriers such as workload burden and lack of a regulatory requirement; (2) variable knowledge and training surrounding EPAs, leading to differing levels of understanding; (3) limited current use of EPAs, even among self-reported users; and (4) complementary nature of EPAs and milestones. FPDs acknowledged the differing strengths of both EPAs and milestones but sought additional knowledge about the value added by EPAs for assessing trainees, including the impact on outcomes.Identified themes can inform effective and meaningful EPA implementation strategies: Supporting and educating FPDs, ongoing assessment of the value of EPAs in training, and practical integration with current workflow. Generating additional data and engaging stakeholders is critical for successful implementation for the pediatric subspecialties.
View details for DOI 10.1177/23821205231225011
View details for PubMedID 38268726
View details for PubMedCentralID PMC10807342
Relationship between epa level of supervision with their associated subcompetency milestone levels in pediatric fellow assessment.
BMC medical education
2023; 23 (1): 720
Entrustable Professional Activities (EPA) and competencies represent components of a competency-based education framework. EPAs are assessed based on the level of supervision (LOS) necessary to perform the activity safely and effectively. The broad competencies, broken down into narrower subcompetencies, are assessed using milestones, observable behaviors of one's abilities along a developmental spectrum. Integration of the two methods, accomplished by mapping the most relevant subcompetencies to each EPA, may provide a cross check between the two forms of assessment and uncover those subcompetencies that have the greatest influence on the EPA assessment.We hypothesized that 1) there would be a strong correlation between EPA LOS ratings with the milestone levels for the subcompetencies mapped to the EPA; 2) some subcompetencies would be more critical in determining entrustment decisions than others, and 3) the correlation would be weaker if the analysis included only milestones reported to the Accreditation Council for Graduate Medical Education (ACGME).In fall 2014 and spring 2015, the Subspecialty Pediatrics Investigator Network asked Clinical Competency Committees to assign milestone levels to each trainee enrolled in a pediatric fellowship for all subcompetencies mapped to 6 Common Pediatric Subspecialty EPAs as well as provide a rating for each EPA based upon a 5-point LOS scale.One-thousand forty fellows were assessed in fall and 1048 in spring, representing about 27% of all fellows. For each EPA and in both periods, the average milestone level was highly correlated with LOS (rho range 0.59-0.74; p < 0.001). Correlations were similar when using a weighted versus unweighted milestone score or using only the ACGME reported milestones (p > 0.05).We found a strong relationship between milestone level and EPA LOS rating but no difference if the subcompetencies were weighted, or if only milestones reported to the ACGME were used. Our results suggest that representative behaviors needed to effectively perform the EPA, such as key subcompetencies and milestones, allow for future language adaptations while still supporting the current model of assessment. In addition, these data provide additional validity evidence for using these complementary tools in building a program of assessment.
View details for DOI 10.1186/s12909-023-04689-0
View details for PubMedID 37789289
View details for PubMedCentralID PMC10548580
The @MATES4Kids Movement: Reducing Preventable Mortality Associated with Congenital Adrenal Hyperplasia (CAH) by 30% by 2030
KARGER. 2023: 139-140
View details for Web of Science ID 001091262800224
Premature adrenarche in Prader-Willi syndrome is associated with accelerated pre-pubertal growth and advanced bone age.
Journal of pediatric endocrinology & metabolism : JPEM
OBJECTIVES: Prader-Willi syndrome (PWS) is characterized by obesity, growth hormone deficiency, hypogonadism, and a high prevalence of premature adrenarche despite reported hypothalamic-pituitary-adrenal axis dysfunction. While idiopathic premature adrenarche is associated with accelerated pre-pubertal growth and advanced bone age, the consequences of elevated adrenal androgens on growth and bone maturation in PWS remain unknown. This study therefore sought to describe age-related changes in dehydroepiandrosterone sulfate (DHEAS) and their effects on growth and bone maturation in PWS.METHODS: This retrospective observational study included 62 children with PWS. Simple and multiple regression models were constructed to relate age and BMI-SDS with DHEAS levels. Height velocity was compared to age andsex-based norms with t-tests and two-way ANOVA. Patterns in bone age Z-score were examined with two-way ANOVA, and the contributions of age, BMI-SDS, and DHEAS to bone age Z-score were analyzed with multiple regression.RESULTS: DHEAS levels rose earlier and were less strongly correlated with age in males and females with PWS (R2=0.12 and 0.30) compared to healthy controls (R2=0.89 and 0.88) in a pattern unrelated to BMI-SDS (adjusted R2=0.076, p=0.10 for age, and 0.29 for BMI-SDS). Mid-childhood height velocity was increased in males and preserved in females with PWS before declining at the age of expected puberty (p<0.0001). Peri-adrenarchal bone age was advanced in a manner associated with DHEAS but not BMI-SDS (p<0.0001; adjusted R2=0.48, p=0.0014 for DHEAS, and 0.78 for BMI-SDS).CONCLUSIONS: An obesity-independent increase in adrenal androgens is associated with accelerated mid-childhood growth and bone maturation in PWS.
View details for DOI 10.1515/jpem-2022-0468
View details for PubMedID 36458449
Clinical competency committee perceptions of entrustable professional activities and their value in assessing fellows: A qualitative study of pediatric subspecialty program directors.
OBJECTIVES: To examine the composition and processes of Clinical Competency Committees (CCCs) assigning entrustable professional activity (EPA) levels of supervision for pediatric subspecialty fellows and to examine fellowship program director (FPD) perspectives about using EPAs to determine fellows' graduation readiness.METHODS: A qualitative study was performed using one-on-one interviews with a purposeful sample of pediatric subspecialty FPDs to yield a thematic analysis. Semi-structured interview guides were used for participants who self-identified as EPA users or non-users. Inductive analysis and coding were performed on transcripts until theoretical sufficiency was attained.RESULTS: Twenty-eight FPDs were interviewed. There was significant variability in the composition and processes of CCCs across subspecialties. FPDs felt that CCCs intuitively understand what entrustment means, allowing for ease of application of level of supervision (LOS) scales and consensus. FPDs perceived that EPAs provided a global assessment of fellows and are one tool to determine graduation readiness.CONCLUSIONS: Although there was variability in the makeup and processes of CCCs across subspecialties, FPDs believe EPAs are intuitive and relatively easy to implement. Consensus can be reached easily using EPA-specific LOS scales focusing on entrustment. FPDs desire a better understanding of how EPAs should be used for graduation.
View details for DOI 10.1080/0142159X.2022.2147054
View details for PubMedID 36420760
Linking oxytocin and arginine vasopressin signaling abnormalities to social behavior impairments in Prader-Willi syndrome.
Neuroscience and biobehavioral reviews
Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder. Global hypothalamic dysfunction is a core feature of PWS and has been implicated as a driver of many of PWS's phenotypic characteristics (e.g., hyperphagia-induced obesity, hypogonadism, short stature). Although the two neuropeptides (i.e., oxytocin [OXT] and arginine vasopressin [AVP]) most implicated in mammalian prosocial functioning are of hypothalamic origin, and social functioning is markedly impaired in PWS, there has been little consideration of how dysregulation of these neuropeptide signaling pathways may contribute to PWS's social behavior impairments. The present article addresses this gap in knowledge by providing a comprehensive review of the preclinical and clinical PWS literature-spanning endogenous neuropeptide measurement to exogenous neuropeptide administration studies-to better understand the roles of OXT and AVP signaling in this population. The preponderance of evidence indicates that OXT and AVP signaling are indeed dysregulated in PWS, and that these neuropeptide pathways may provide promising targets for therapeutic intervention in a patient population that currently lacks a pharmacological strategy for its debilitating social behavior symptoms.
View details for DOI 10.1016/j.neubiorev.2022.104870
View details for PubMedID 36113782
- 50 Years Ago in TheJournalofPediatrics: Advances in the Understanding of Prader-Willi syndrome. The Journal of pediatrics 2022; 247: 154
Closing Disparities in Pediatric Diabetes Telehealth Care: Lessons From Telehealth Necessity During the COVID-19 Pandemic.
Clinical diabetes : a publication of the American Diabetes Association
2022; 40 (2): 153-157
The coronavirus disease 2019 (COVID-19) pandemic necessitated using telehealth to bridge the clinical gap, but could increase health disparities. This article reports on a chart review of diabetes telehealth visits occurring before COVID-19, during shelter-in-place orders, and during the reopening period. Visits for children with public insurance and for those who were non-English speaking were identified. Telehealth visits for children with public insurance increased from 26.2% before COVID-19 to 37.3% during shelter-in-place orders and 34.3% during reopening. Telehealth visits for children who were non-English speaking increased from 3.5% before COVID-19 to 17.5% during shelter-in-place orders and remained at 15.0% during reopening. Pandemic-related telehealth expansion included optimization of workflows to include patients with public insurance and those who did not speak English. Increased participation by those groups persisted during the reopening phase, indicating that prioritizing inclusive telehealth workflows can reduce disparities in access to care.
View details for DOI 10.2337/cd20-0123
View details for PubMedID 35669301
Fellow Entrustment for the Common Pediatric Subspecialty Entrustable Professional Activities Across Subspecialties.
OBJECTIVE: To determine the relationship between level of supervision (LOS) ratings for the Common Pediatric Subspecialty Entrustable Professional Activities (EPAs) with their associated subcompetency milestones across subspecialties and by fellowship training year.METHODS: Clinical Competency Committees (CCCs) in 14 pediatric subspecialties submitted LOS ratings for 6 Common Subspecialty EPAs and subcompetency milestone levels mapped to these EPAs. We examined associations between these subcompetency milestone levels and LOS ratings across subspecialty training year by fitting per-EPA linear mixed effects models, regressing LOS rating on milestone level and on training year.RESULTS: CCCs from 211 pediatric fellowship programs provided data for 369 first, 336 second, and 331 third year fellows. Mean subcompetency milestone levels increased similarly among subspecialties for most EPAs compared with the reference, Adolescent Medicine. Mean subcompetency milestones mapped to each EPA and mean EPA LOS ratings generally increased by training year across all subspecialties.CONCLUSIONS: Subcompetency milestones levels mapped to each Common Subspecialty EPA and the EPA LOS ratings increase similarly across subspecialties and by training year, providing validity evidence for using EPA LOS to assess pediatric subspecialty trainee performance. This study supports the development of tools to facilitated the CCC evaluation process across all pediatric subspecialties.
View details for DOI 10.1016/j.acap.2021.12.019
View details for PubMedID 34936942
- Achieving Entrustable Professional Activities During Fellowship PEDIATRICS 2021; 148 (5)
The prevalence of COVID-19 in healthcare personnel in an adult and pediatric academic medical center.
American journal of infection control
2021; 49 (5): 542–46
BACKGROUND: It is vital to know which healthcare personnel (HCP) have a higher chance of testing positive for severe acute respiratory syndrome coronavirus 2 (COVID-19).METHODS: A retrospective analysis was conducted at Stanford Children's Health (SCH) and Stanford Health Care (SHC) in Stanford, California. Analysis included all HCP, employed by SCH or SHC, who had a COVID-19 reverse transcriptase polymerase chain reaction (RT-PCR) test resulted by the SHC Laboratory, between March 1, 2020 and June 15, 2020. The primary outcome was the RT-PCR percent positivity and prevalence of COVID-19 for HCP and these were compared across roles.RESULTS: SCH and SHC had 24,081 active employees, of which 142 had at least 1 positive COVID-19 test. The overall HCP prevalence of COVID-19 was 0.59% and percent positivity was 1.84%. Patient facing HCPs had a significantly higher prevalence (0.66% vs 0.43%; P = .0331) and percent positivity (1.95% vs 1.43%; P = .0396) than nonpatient facing employees, respectively. Percent positivity was higher in food service workers (9.15%), and environmental services (5.96%) compared to clinicians (1.93%; P < .0001) and nurses (1.46%; P < .0001), respectively.DISCUSSION AND CONCLUSION: HCP in patient-facing roles and in support roles had a greater chance of being positive of COVID-19.
View details for DOI 10.1016/j.ajic.2021.01.004
View details for PubMedID 33896582
- Sustaining the Pediatric Endocrinology Workforce: Recommendations from the Pediatric Endocrine Society Workforce Task Force. The Journal of pediatrics 2020
- 50 Years Ago in TheJournalofPediatrics: Change in Growth Hormone with Obesity: More Consequence Than Cause, Although Questions Remain. The Journal of pediatrics 2020; 223: 99
Elevated adrenal androgens in Prader-Willi syndrome are associated with accelerated pre-pubertal growth and an advanced bone age
KARGER. 2020: 118–19
View details for Web of Science ID 000544736900165
Improving Pediatric Endocrinology Trainees' Knowledge about Insulin Pumps and Continuous Glucose Monitors with Online Spaced Education: Technology Knowledge Optimization in T1D (TeKnO T1D).
OBJECTIVE: We explored the impact of TeKnO T1D, an online, case-based, spaced education curriculum about insulin pump and continuous glucose monitor (CGM) use in pediatric type 1 diabetes management.METHODS: Pediatric endocrinology fellows (n=64) were randomized to receive an educational curriculum focused on either insulin pumps or CGMs. Fellows received interactive questions twice weekly via email or mobile app. Median time to completion was 76.5days. The primary outcome was change in knowledge as measured by performance on multiple-choice questions (MCQ) from the pre-test to the post-test.RESULTS: Forty-eight of 64 (75%) learners completed the curriculum and assessments. The pump group improved from 35.0±15% on the pre-test MCQs to 61.1±17% on the post-test, a 12.2 absolute percentage point greater improvement on pump-specific items than the CGM group (P=0.03). The CGM group improved from 30.3±15% on the pre-test MCQs to 61.4±21% on the post-test, a 28.7 absolute percentage point greater improvement on CGM-specific items than the pump group (P<0.001). Both groups were more likely to report an appropriate level of understanding of their respective technologies after completing the corresponding curriculum. In thematic analysis of qualitative data, fellows indicated that knowledge gains led to improved patient care. There was universal agreement about enjoyment and effectiveness of the curricula.CONCLUSIONS: TeKnO T1D proved to be an engaging, effective way to improve endocrinology fellows' knowledge and confidence about insulin pumps and CGM use in the management of pediatric type 1 diabetes. This article is protected by copyright. All rights reserved.
View details for DOI 10.1111/pedi.13010
View details for PubMedID 32222056
Agreement of Program Directors With Clinical Competency Committees for Fellow Entrustment.
Journal of medical education and curricular development
2020; 7: 2382120520936613
Objectives: Fellowship program directors (FPD) and Clinical Competency Committees (CCCs) both assess fellow performance. We examined the association of entrustment levels determined by the FPD with those of the CCC for 6 common pediatric subspecialty entrustable professional activities (EPAs), hypothesizing there would be strong correlation and minimal bias between these raters.Methods: The FPDs and CCCs separately assigned a level of supervision to each of their fellows for 6 common pediatric subspecialty EPAs. For each EPA, we determined the correlation between FPD and CCC assessments and calculated bias as CCC minus FPD values for when the FPD was or was not a member of the CCC. In addition, we examined the effect of program size, FPD understanding of EPAs, and subspecialty on the correlations. Data were obtained in fall 2014 and spring 2015.Results: A total of 1040 fellows were assessed in the fall and 1048 in the spring. In both periods and for each EPA, there was a strong correlation between FPD and CCC supervision levels (P<.001). The correlation was somewhat lower when the FPD was not a CCC member (P<.001). Overall bias in both periods was small.Conclusions: The correlation between FPD and CCC assignment of EPA supervision levels is strong. Although slightly weaker when the FPD is not a CCC member, bias is small, so this is likely unimportant in determining fellow entrustment level. The similar performance ratings of FPDs and CCCs support the validity argument for EPAs as competency-based assessment tools.
View details for DOI 10.1177/2382120520936613
View details for PubMedID 32844115
Prader Willi syndrome: endocrine updates and new medical therapies.
Current opinion in endocrinology, diabetes, and obesity
PURPOSE OF REVIEW: Prader Willi syndrome is characterized not only by hyperphagia frequently resulting in obesity, but also by endocrine dysfunction across a variety of axes. This article reviews the most recent literature regarding possible causes of hyperphagia and the nature of endocrinopathies seen in Prader Willi syndrome, as well as current research into possible therapies.RECENT FINDINGS: Investigation into neurologic, metabolic and hormonal drivers of hyperphagia and obesity has revealed new insights and clarified underlying pathophysiology. Additional studies continue to elucidate the hormonal deficiencies seen in the syndrome, allowing for improvements in clinical care.SUMMARY: The underlying causes of the hyperphagia and progressive obesity frequently seen in Prader Willi Syndrome are largely unknown and likely multifactorial. Understanding the hormonal and metabolic drivers at work in PWS, as well as the nature of other hormonal dysfunction seen in the syndrome is necessary to guide current management and future research directions.
View details for DOI 10.1097/MED.0000000000000517
View details for PubMedID 31815782
Measuring change in knowledge acquisition of Rwandan residents: using the American Board of Pediatrics International In-Training Examination (I-ITE) as an independent tool to monitor individual and departmental improvements during the Human Resources for Health program: an observational study.
BMC medical education
2019; 19 (1): 217
BACKGROUND: Rwanda is the only African country to use the pediatric International In-Training Examination (I-ITE). The objectives of this study were to use the scores from the I-ITE to outline the baseline level of knowledge of Rwandan residents entering the pediatric residency and the trends in knowledge acquisition from 2012 to 2018, during the Human Resources for Health (HRH) Program, an education partnership between the Rwanda Ministry of Health and a consortium of US universities.METHODS: A retrospective descriptive analysis of the I-ITE exam scores, taken by all Rwandan pediatric residents for five of the six academic years of the study period. Individual resident scores were weighted using the non-Rwandan I-ITE sites to minimise confounding from annual variations in exam difficulty. Statistical analysis included descriptives with ANOVA to compare variation in annual mean scores.RESULTS: Eighty-four residents took 213 I-ITE exam sittings over the five exam cycles. The mean weighted I-ITE score of all residents increased from 34% in 2013 to 49% (p<0.001) in 2018. The 32-point gap between the mean US-ITE and Rwandan I-ITE score in 2012-2013 was reduced to a 16-point gap in 2017-2018. First year resident (PG1) scores, which likely reflect the knowledge level of undergraduate medical students entering the residency program, increased from 34.8 to 44.3% (p=0.002) between 2013 and 2018.CONCLUSIONS: The I-ITE is an independent, robust tool, measuring both learners and the institutional factors supporting residents. This is the first study to demonstrate that the I-ITE can be used to monitor resident knowledge acquisition in resource-limited settings, where assessment of resident knowledge can be a major challenge facing the academic medicine community. The significant increase in I-ITE scores between 2012 and 18 reflects the substantial curricular reorganisation accomplished through collaboration between Rwandan and US embedded faculty and supports the theory that programs such as HRH are highly effective at improving the quality of residency programs and undergraduate medical education.
View details for DOI 10.1186/s12909-019-1617-8
View details for PubMedID 31208418
- Making the Consult Interaction More Than a Transaction: Helping Fellows Be Better Teachers and Residents Be Better Learners. The Journal of pediatrics 2019; 209: 3
Creating the Subspecialty Pediatrics Investigator Network (vol 192, pg 3, 2018)
JOURNAL OF PEDIATRICS
2019; 207: 269
View details for Web of Science ID 000462161200064
Pediatric Endocrinology Trainees' Education and Knowledge About Insulin Pumps and Continuous Glucose Monitors.
Diabetes technology & therapeutics
2019; 21 (3): 105-109
Recent data demonstrating a lack of improvement in average hemoglobin A1c levels despite the increased use of insulin pumps and continuous glucose monitors (CGMs) suggest that patients are not using these technologies optimally. Suboptimal provider understanding of these devices may be a contributing factor.We sought to assess fellows' knowledge, attitudes, and practices regarding insulin pumps and CGMs using a mixed-methods survey. We polled 42 pediatric endocrinology fellows and 69 attending physicians in pediatric endocrinology using items on a five-point Likert scale.Perceived fellow knowledge of insulin pumps and CGMs was only 3.6 ± 1.0 and 3.6 ± 0.9, respectively. Despite consensus about the need for pediatric endocrinologists to understand these technologies, only 14.7% of fellows reported the presence of a formal curriculum about these technologies at their institutions. Potential gaps identified in fellows' knowledge include general use and troubleshooting, advanced insulin pump features, infusion sets and dermatological complications, systematic approach to data, interpretation and application of CGM data, and keeping pace with technological advances.Our data suggest suboptimal fellow knowledge and understanding of insulin pumps and CGMs in pediatric type 1 diabetes management, which is likely attributable to inadequate education in fellowship training programs. The development of formal educational curricula targeting areas of weakness identified in this survey may improve clinician knowledge of these technologies and ultimately impact patient education and care.
View details for DOI 10.1089/dia.2018.0331
View details for PubMedID 30681363
View details for PubMedCentralID PMC6434593
Applying Cognitive Learning Strategies to Enhance Learning and Retention in Clinical Teaching Settings.
MedEdPORTAL : the journal of teaching and learning resources
2019; 15: 10850
Cognitive learning strategies are strategies that improve a learner's ability to process information more deeply, transfer and apply information to new situations, and result in enhanced and better-retained learning.We developed an interactive workshop for a national conference of pediatric educators to teach five cognitive learning strategies. The specific strategies were (1) spaced retrieval practice, (2) interleaving, (3) elaboration, (4) generation, and (5) reflection. Each strategy was taught using an active learning exercise. We evaluated the effectiveness of the workshop through a commitment-to-change exercise in which we asked participants to commit to making a change in their teaching as it related to the workshop and then queried them 6 weeks later about their implementation successes and barriers.Of the 161 participants registered for the workshop, 52 completed the voluntary workshop evaluation. All 52 participants committed to making a change in their teaching as a result of the workshop. Of those 52 participants, 24 completed the 6-week follow-up survey. Eighty-two percent of those respondents (n = 18) reported implementing a change based on the workshop, with 77% of respondents implementing a change that they had committed to directly after the workshop and 55% implementing a change that they had not originally committed to at the end of the workshop.This workshop successfully led to behavioral change in the teaching of cognitive learning strategies. We anticipate that this will lead to improved learning among the trainees whom participants teach.
View details for DOI 10.15766/mep_2374-8265.10850
View details for PubMedID 31921996
View details for PubMedCentralID PMC6946583
Undernutrition and growth in the developing world.
Current opinion in endocrinology, diabetes, and obesity
PURPOSE OF REVIEW: Despite targeted interventions, an estimated 150.8 million children under 5 years globally are still stunted, of which more than half live in Asia and more than one-third live in Africa. This review summarizes our current knowledge regarding how longitudinal bone growth is regulated by nutritional intake in the developing world. Dietary macronutrients and micronutrients necessary for growth are also briefly reviewed.RECENT FINDINGS: Recent advances include investigations of nutritionally sensitive regulators of growth as well as prospective evaluations of the role of specific dietary components on growth in order to better assess their impact.SUMMARY: Further investigation is required to understand how nutrition impacts growth, the mechanisms underlying stunting and to optimize therapeutic strategies for children who are at risk for growth attenuation or are stunted in low and middle-income countries (LMICs).
View details for DOI 10.1097/MED.0000000000000461
View details for PubMedID 30507697
Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.
Diabetes, obesity & metabolism
2017; 19 (12): 1751-1761
There are no treatments for the extreme hyperphagia and obesity in Prader-Willi syndrome (PWS). The bestPWS clinical trial assessed the efficacy, safety and tolerability of the methionine aminopeptidase 2 (MetAP2) inhibitor, beloranib.Participants with PWS (12-65 years old) were randomly assigned (1:1:1) to biweekly placebo, 1.8 mg beloranib or 2.4 mg beloranib injection for 26 weeks at 15 US sites. Co-primary endpoints were the changes in hyperphagia [measured by Hyperphagia Questionnaire for Clinical Trials (HQ-CT); possible score 0-36] and weight by intention-to-treat. ClinicalTrials.gov registration: NCT02179151.One-hundred and seven participants were included in the intention-to-treat analysis: placebo (n = 34); 1.8 mg beloranib (n = 36); or 2.4 mg beloranib (n = 37). Improvement (reduction) in HQ-CT total score was greater in the 1.8 mg (mean difference -6.3, 95% CI -9.6 to -3.0; P = .0003) and 2.4 mg beloranib groups (-7.0, 95% CI -10.5 to -3.6; P = .0001) vs placebo. Compared with placebo, weight change was greater with 1.8 mg (mean difference - 8.2%, 95% CI -10.8 to -5.6; P < .0001) and 2.4 mg beloranib (-9.5%, 95% CI -12.1 to -6.8; P < .0001). Injection site bruising was the most frequent adverse event with beloranib. Dosing was stopped early due to an imbalance in venous thrombotic events in beloranib-treated participants (2 fatal events of pulmonary embolism and 2 events of deep vein thrombosis) compared with placebo.MetAP2 inhibition with beloranib produced statistically significant and clinically meaningful improvements in hyperphagia-related behaviours and weight loss in participants with PWS. Although investigation of beloranib has ceased, inhibition of MetAP2 is a novel mechanism for treating hyperphagia and obesity.
View details for DOI 10.1111/dom.13021
View details for PubMedID 28556449
View details for PubMedCentralID PMC5673540
The High Direct Medical Costs of Prader-Willi Syndrome.
The Journal of pediatrics
2016; 175: 137-43
To assess medical resource utilization associated with Prader-Willi syndrome (PWS) in the US, hypothesized to be greater relative to a matched control group without PWS.We used a retrospective case-matched control design and longitudinal US administrative claims data (MarketScan) during a 5-year enrollment period (2009-2014). Patients with PWS were identified by Classification of Diseases, Ninth Revision, Clinical Modification diagnosis code 759.81. Controls were matched on age, sex, and payer type. Outcomes included total, outpatient, inpatient and prescription costs.After matching and application of inclusion/exclusion criteria, we identified 2030 patients with PWS (1161 commercial, 38 Medicare supplemental, and 831 Medicaid). Commercially insured patients with PWS (median age 10 years) had 8.8-times greater total annual direct medical costs than their counterparts without PWS (median age 10 years: median costs $14 907 vs $819; P < .0001; mean costs: $28 712 vs $3246). Outpatient care comprised the largest portion of medical resource utilization for enrollees with and without PWS (median $5605 vs $675; P < .0001; mean $11 032 vs $1804), followed by mean annual inpatient and medication costs, which were $10 879 vs $1015 (P < .001) and $6801 vs $428 (P < .001), respectively. Total annual direct medical costs were ∼42% greater for Medicaid-insured patients with PWS than their commercially insured counterparts, an increase partly explained by claims for Medicaid Waiver day and residential habilitation.Direct medical resource utilization was considerably greater among patients with PWS than members without the condition. This study provides a first step toward quantifying the financial burden of PWS posed to individuals, families, and society.
View details for DOI 10.1016/j.jpeds.2016.05.018
View details for PubMedID 27283463
Fellows as Teachers: Raising the Educational Bar.
Annals of the American Thoracic Society
2016; 13 (4): 465-8
Fellows are expected to educate trainees, peers, and patients, during and long after fellowship. However, there has been relatively little emphasis on the acquisition of teaching skills in fellowship programs. Challenges to teaching by fellows during subspecialty training include demanding clinical duties, their limited knowledge base in the field, brief contact time with learners during consultative roles, and, for new fellows, personal unfamiliarity with the learners and hospital culture. Fellows' teaching skills can be improved by formal curricula addressing teaching, and by direct observation and feedback of teaching akin to what is provided for learning clinical care. Further expansion of fellow-as-teacher programs will allow in-depth training for fellows seeking careers as medical educators. Even without such dedicated programs, emphasis on honing teaching skills during fellowship will telegraph the importance of teaching and help evolve divisional culture. Such efforts can have a positive impact on patients and learners, and enhance the teaching skills of future faculty.
View details for DOI 10.1513/AnnalsATS.201601-026PS
View details for PubMedID 26835749
Transcranial direct current stimulation reduces food-craving and measures of hyperphagia behavior in participants with Prader-Willi syndrome.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
2016; 171B (2): 266-75
Prader-Willi syndrome (PWS) is a neurodevelopmental genetic disorder characterized by intellectual disabilities and insatiable appetite with compulsive eating leading to severe obesity with detrimental health consequences. Transcranial direct current stimulation (tDCS) has been shown to modulate decision-making and cue-induced food craving in healthy adults. We conducted a pilot double blind, sham-controlled, multicenter study of tDCS modulation of food drive and craving in 10 adult PWS participants, 11 adult obese (OB) and 11 adult healthy-weight control (HWC) subjects. PWS and OB subjects received five consecutive daily sessions of active or sham tDCS over the right dorsolateral prefrontal cortex (DLPFC), while HWC received a single sham and active tDCS in a crossover design. Standardized psychometric instruments assessed food craving, drive and hyperphagia by self-report and caregiver assessment over 30 days. Robust baseline differences were observed in severity scores for the Three-Factor Eating Questionnaire (TFEQ) and Dykens Hyperphagia Questionnaire (DHQ) for PWS compared to HWC while obese participants were more similar to HWC. Active tDCS stimulation in PWS was associated with a significant change from baseline in TFEQ Disinhibition (Factor II) (Ƶ = 1.9, P < 0.05, 30 days) and Total Scores (Ƶ = 2.3, P < 0.02, 30 days), and participant ratings of the DHQ Severity (Ƶ = 1.8, P < 0.06, 5 days) and Total Scores (Ƶ = 1.9, P < 0.05, 15 days). These findings support sustained neuromodulatory effects and efficacy of tDCS to reduce food drive and behaviors impacting hyperphagia in PWS. Transcranial direct current stimulation may represent a straight-forward, low risk and low cost method to improve care, management and quality of life in PWS.
View details for DOI 10.1002/ajmg.b.32401
View details for PubMedID 26590516
- The International Olympic Committee Consensus statement on age determination in high-level young athletes. British journal of sports medicine 2010; 44 (7): 476-84
Isolated lymphocytic infiltration of pituitary stalk preceding the diagnosis of germinoma in 2 prepubertal children treated with growth hormone.
2009; 72 (1): 57-62
We report the clinical course of 2 patients with central diabetes insipidus and evolving to panyhypopituitarism which prompted the diagnosis of an isolated pituitary stalk thickening (PST). In both patients, all etiological investigations were normal and the first biopsy revealed an isolated lymphocytic infiltrate with no sign of malignancy. Close clinical follow-up accompanied by serial brain MRIs was proposed to determine a precise diagnosis and for early detection and treatment of neoplastic disease. In our first case, the diagnosis of germinoma was made 9 months after the PST diagnosis owing to tumor progression. In the second case, the time course was even longer with the diagnosis of germinoma 6 years following initial presentation. In these cases, it is speculated that the lymphocytic infiltrates represent the first sign of a host reaction to an occult germinoma. To our knowledge, this is the third case reported of lymphocytic infiltrates preceding a germinoma in a prepubertal girl, and the only case reported in a prepubertal boy. These cases underline the difficulties in establishing the diagnosis of germinoma in a patient with isolated PST.
View details for DOI 10.1159/000224342
View details for PubMedID 19571561
Altered hypothalamic-pituitary-ovarian axis function in young female athletes: implications and recommendations for management.
Treatments in endocrinology
2005; 4 (3): 147-54
Young women have become increasingly active in athletics during the 20th century. Those involved in sports that emphasize lean body type are at high risk for the development of menstrual dysfunction, including amenorrhea. This is mediated by an alteration in function of the hypothalamic-pituitary-ovarian (HPO) axis, with loss of normal secretion of luteinizing hormone, and subsequent lack of estrogen production. Disruption of the HPO axis appears to be dependent on the body's recognition of an energy imbalance, which may be due to a lack of compensatory caloric intake in the face of significant energy expenditure. Other pituitary hormones, such as triiodothyronine, growth hormone, and insulin-like growth factor-1 may also be affected. These metabolic changes have an impact on bone mineralization during a critical period in the development of bone mass. Recognition by physicians of the so-called 'female athlete triad', consisting of disordered eating, amenorrhea, and osteoporosis, may allow therapeutic intervention. Diagnosis of eating disorders and decreased bone mineral density can have significant impact on the health of the young athlete. Treatment is aimed at restoring normal menstrual function by increasing caloric intake to balance the increased energy demands of athletic participation. Concurrent treatment of the hypoestrogenemic state using estrogen replacement is controversial, but may aid in alleviating further loss of bone mass.
View details for PubMedID 15898820
Adolescent androgen abnormalities.
Current opinion in obstetrics & gynecology
2002; 14 (5): 445-51
Polycystic ovary syndrome is one of the most common endocrinopathies affecting premenopausal women. This review focuses on this major cause of hyperandrogenism in adolescents and young women, highlighting new diagnostic and therapeutic strategies that are under investigation. The pathophysiologic role in the disorder are the subject of several recent reports.Recent studies have found a 33% prevalence of abnormal glucose tolerance in a cohort of affected adolescents, higher fasting insulin levels and lower insulin sensitivity, and that glucose tolerance testing appears to be necessary for routine screening. The effects of hyperinsulinism may be counteracted by insulin sensitizing agents. In adult women with polycystic ovary syndrome, metformin treatment reduced hyperinsulinemia and hyperandrogenemia. In some obese adolescents, metformin therapy resulted in declines in body mass index, insulin, and glucose. Restoration of regular menses may also occur after metformin treatment. Thus, data is accumulating that insulin-sensitizing agents may be helpful in decreasing the pathophysiologic effects of hyperinsulinism and insulin resistance associated with polycystic ovary syndrome. Other hormonal alterations in polycystic ovary syndrome have also been the subject of recent reports. Leptin secretion was found to be markedly irregular in these women. Elevated LH secretion may be secondary to accelerated gonadotropin-releasing hormone pulse generator activity, although the etiology of the pulse alterations is unclear.Although polycystic ovary syndrome is the most common endocrine disorder affecting young women, it is one of the least understood, reflected by the wealth of research in this area. One area of focus has been the pathophysiologic link between insulin resistance and this disorder, including the effects of promising new agents to counteract these effects.
View details for PubMedID 12401970
Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism.
The Journal of pediatrics
2000; 137 (2): 239-46
To identify infants with hyperinsulinism caused by defects of the beta-cell adenosine triphosphate-dependent potassium channel complex and to distinguish focal and diffuse forms of hyperinsulinism caused by these mutations.The acute insulin response to intravenous calcium stimulation (CaAIR) was determined in 9 patients <20 years with diffuse hyperinsulinism caused by defective beta-cell sulfonylurea receptor (SUR1(-/-)), 3 patients with focal congenital hyperinsulinism (6 weeks to 18 months), a 10-year-old with insulinoma, 5 with hyperinsulinism/hyperammonemia syndrome caused by defective glutamate dehydrogenase (6 months to 28 years), 4 SUR1(+/-) heterozygotes with no symptoms, and 9 normal adults. Three infants with congenital focal disease, 1 with diffuse hyperinsulinism, and the child with insulinoma underwent selective pancreatic intra-arterial calcium stimulation with hepatic venous sampling.Children with diffuse SUR1(-/-) disease and infants with congenital focal hyperinsulinism responded to CaAIR, whereas the normal control group, patients with hyperinsulinism/hyperammonemia syndrome, and SUR1(+/-) carriers did not. Selective arterial calcium stimulation of the pancreas with hepatic venous sampling revealed selective, significant step-ups in insulin secretion that correlated anatomically with the location of solitary lesions confirmed surgically in 2 of 3 infants with congenital focal disease and in the child with insulinoma. Selective arterial calcium stimulation of the pancreas with hepatic venous sampling demonstrated markedly elevated baseline insulin levels throughout the pancreas of the infant with diffuse hyperinsulinism.The intravenous CaAIR is a safe and simple test for identifying infants with diffuse SUR1(-/-) hyperinsulinism or with focal congenital hyperinsulinism. Preoperative selective arterial calcium stimulation of the pancreas with hepatic venous sampling can localize focal lesions causing hyperinsulinism in children. The combination of these calcium stimulation tests may help distinguish focal lesions suitable for cure by local surgical resection.
View details for DOI 10.1067/mpd.2000.107386
View details for PubMedID 10931418
View details for PubMedCentralID PMC4151173