United States

Background
Pitt Hopkins Syndrome (PHS) is a rare genetic condition (~1:35,000 births) involving pathologic variants of the TCF4 gene. Manifestations of PHS include developmental delay, seizures, gastro-esophageal reflux (GERD), and autonomic dysfunction (e.g., hyperventilation, constipation). There is limited understanding of disease progression into later adulthood. We here-in present the case of the oldest reported patient with exome sequencing confirmed PHS with recurrent fevers and orange urine.
Case Presentation
A 35-year-old male with diagnosed PHS presents to primary care clinic for recurrent fevers and discolored urine. The patient is non-verbal at baseline with global developmental delays. His main PHS symptoms include hyperventilation spells, severe GERD requiring fundoplication, seizures, and dysautonomia. Three months prior, he was hospitalized with fever, malaise, and breakthrough seizures. Workup was notable for Influenza A and radiographic evidence of aspiration pneumonia and a bladder calcification. He received phenobarbital, anti- microbials, and supportive care and was discharged home once stabilized. Since discharge he has experienced nightly fevers up to 101 oF with intermittent evanescent rash. Associated symptoms included poor oral intake, aggression, malaise, and increased seizure frequency. He also had fluorescent orange, malodorous urine and was diagnosed with multiple UTIs that recurred after treatment, and fevers persisted.
© 2023 American Medical Association. All rights reserved.
A broad differential for recurrent fever was considered. Autoimmune/inflammatory diseases, such as Still’s disease, were effectively excluded with an unremarkable rheumatologic workup. Malignancy was considered less likely with normal imaging and blood counts. Infectious disease specialists found no evidence of chronic infectious process or Lyme disease. However, recurrent aspiration pneumonia was considered given severe GERD. Initial urologic evaluation showed non-specific signs of dehydration. His previously identified bladder calcification was thought to be consistent with urachal remnant. Because a urachal remnant could be a nidus of infection, he underwent cystoscopy which was unremarkable. Ultimately, his abnormal urinary color and nightly fevers resolved, although the patient has continued to struggle with UTIs and failure to thrive.
Discussion
This is an unusual case of the oldest reported patient with PHS who completed months of evaluation for recurrent fever without identification of a clear cause. Considering the known role of TCF4 in neuronal development, these symptoms may represent additional autonomic features of PHS in adults. Further, this may highlight the impact of recurrent UTIs, severe GERD and aspiration pneumonias on disease morbidity and mortality. We present this case as to report additional under-recognized clinical features in adult PHS and begin to characterize the lifetime disease process.

AMA Research Challenge 2023

Recurrent fever in an adult with Pitt-Hopkins Syndrome: A challenging case in a rare patient

poster

Welcome to the **largest national, multi-specialty research** event featuring research from nearly 700 medical students, residents, fellows, and international medical graduates.

Use the buttons below or navigation menu to access the event.
 


[![](https://assets.underline.io/uploads/markdown_image/1/image/3e33a8c754cc49610b30950617d813e7.png)](https://underline.io/events/434/sessions?searchGroup=all)
 
[![](https://assets.underline.io/uploads/markdown_image/1/image/551404d429c4e274f9a54cbdd7081918.png)](https://underline.io/events/434/posters?searchGroup=all)
 
[![](https://assets.underline.io/uploads/markdown_image/1/image/677d92f566b880cebd36905fc738fc10.png)](https://underline.io/events/434/lounge)
 
[![](https://assets.underline.io/uploads/markdown_image/1/image/c7392833c7261c3874c5b43fa2f4df19.png)](https://underline.io/events/434/help-desk)
 

#### Event Details

The 2023 American Medical Association Research Challenge includes a poster symposium hall and a semifinals hall with the top scored research. **Log in at any time throughout the event to:**

* **View posters and presentations** on a variety of topics and specialties
* **Score posters in the semifinals** to help decide the top five finalists (AMA member exclusive opportunity)
* **Connect with participants** and provide feedback to help advance their research
* **Attend education sessions** with physician experts on key research topics

At the conclusion of this event, the AMA will announce the top five finalists who will advance to the AMA Research Challenge finals, present their research to an elite panel of judges, and compete to win a $10,000 grand prize sponsored by Laurel Road. 

### Grand Prize Sponsor

AMA would like to thank Laurel Road for sponsoring a $10,000 grand prize for the winner of the AMA Research Challenge. Laurel Road is not involved in the judging or scoring process to select the winner. The winner will be announced on February 4, 2024 during the AMA Research Challenge finals. Payment of the grand prize will be directly from Laurel Road. See the AMA Research Challenge Official Rules for terms and conditions.

![](https://assets.underline.io/uploads/markdown_image/1/image/611e331d4a0eba0920f240cfc04b4d77.png)

**There is no registration fee for this event! **

Register to explore research in a variety of topics. AMA members get exclusive access to score posters in the semifinals.

**Please use this link [here](https://www.ama-assn.org/about/events/ama-research-challenge) to register for free.**

Registration Is Required

Join the AMA Research Challenge poster symposium and semifinals to explore top research posters, score posters in the semifinals (an AMA member exclusive opportunity) and attend education sessions with experienced physicians to learn tips to advance your research and career. 

The median nerve maintains a close relationship with the brachial artery in the upper limb. Variability in the formation and distribution of upper extremity vessels is frequently encountered during donor body dissections. This case presents a rare anatomical variation of the brachial artery emerging through an opening in the median nerve. The median nerve formed a small opening without the contribution from additional nerve roots, and the remaining vasculature of the upper limb was otherwise normal. An abnormal arrangement of a neurovascular bundle in the arm can cause sensory and motor issues, as well as vascular implications. This variation has potential clinical significance in surgical interventions. To our knowledge, this is the first reported case of a small median nerve opening pierced by the brachial artery.

Variation of the Brachial Artery Emerging through an Opening in the Median Nerve: A Case Report

Background
Geminus Head Start is a federal program that works with children under five years old from low-income communities to promote school readiness. The organization in Northwest Indiana provided anecdotal data on delayed social and emotional development of children during the pandemic. Studies have shown that adverse childhood development can have a severe psychological and physiological impact on health outcomes into adulthood. However, there has been a lack of research on quantifying the extent of damage from the pandemic on our Head Start children, who mainly identify as Black/African American. 

Methods
Geminus Head Start provided demographic data including race, postal codes and DECA for over 4650 students from 2019-2023. DECA, Devereux Early Childhood Assessment, is used by educators to evaluate children’s social emotional competence for early intervention. In this study, we are investigating the DECA categories, including initiative, self control, and attachment/relationships. We analyzed DECA scores via ANOVA along with listening into the teacher focus groups. 

Results
Students had increased attachment/relationship scores from the 2019-2020 school year to the 2020-2021 school year (36.69 to 44.59). However, following COVID-19 to the 2021-2022 and 2022-2023 school years, these scores dropped to 23.51. When looking at the second protective factor, self regulation, the opposite trend was found. The scores went from 18.79 in 2019-2020 down to 14.68 in 2020-2021 and eventually up to 23.51 in 2021-2022.

Conclusion

Like most institutions, the pandemic has created a time of isolation and instability for our children and their families. In particular, these children have not been able to access adequate conditions to develop emotional and social maturity. Lacking this development can lead to several negative health outcomes as it may impact mental health and the ability to create healthy supportive networks.


Retrospective Analysis of COVID-19 Impact on Social & Emotional Development in Children of Low-Income Communities from Head Start 


Background:
Mobile health (mHealth) is a rapidly evolving technological field determined to assist healthcare professionals and users in monitoring their health status through biometrics collected on internet of things (IoTs). Recent advancements in IoTs increase user access to protected/personal health information (PHI) and streamline data analysis for healthcare professionals to perform occupational responsibilities. While IoTs involve gathering individual health data, which some may see as violating the rights of privacy and security, implementing effective policies and regulations can ensure that confidentiality is maintained. Although the utilization of IoTs in healthcare is evolving rapidly, there is still limited exploration regarding how it can benefit individuals in high-risk occupations, such as first responders, who are frequently exposed to dangerous conditions.

Methods:
To explore this knowledge gap, our team has performed a literature review on the development of mHealth & IoTs in high-exposure occupations. High-exposure occupations were defined as those who experienced increased trauma, environmental hazards, chemicals, and stress (e.g., emergency medicine, firefighters, police officers, etc.). We reviewed previous implementations of IoTs in high-exposure occupations, evaluated statistics of work-related illnesses/injuries that were identified as preventable, and recognized challenges of IoTs utilization in such occupations.

Results:
Our literature review concluded there is a significant opportunity for the current utilization of IoTs in physician-patient relationships to expand toward such careers. Implementing non-obstructive wearable devices in high-exposure careers while abiding by the Health Information Technology for Economic and Clinical Health (HITECH) Act can minimize work-related mortalities, improve situational awareness, aid in the early detection of occupational illnesses/injuries, and facilitate safer working conditions. The Swiss cheese model developed by James Reason supports these claims through the addition of another systemic barrier to reduce unnecessary risk. Such an idea could be promoted by real-time monitoring and analysis of biometric data (heart rate, electrocardiogram, pulse oximetry, etc.) and environmental data for the user and a potential third-party analyst. The third-party analyst would interpret live biometrics for the users of the IoTs and send an alert if any abnormalities were identified compared to baseline measurements.

Conclusion:
mHealth and IoTs have become common since the COVID-19 pandemic and increased development encourages further utilization. Implementation of non-obstructive wearable devices in high-exposure occupations is one such way. Here we present a solution to promote work-related safety for preventable illnesses/injuries. Our literature review establishes an opportunity for the expansion of mHealth and IoTs to high-exposure occupations to promote overall safety.

IoTs Expansion and their Opportunity to Promote Safety in High-Exposure Occupations

Background
Emergency department (ED) visits for preventable dental conditions are substantially increasing. 

Methods
A retrospective chart review of prospectively maintained data was used. We reviewed 275 children who presented to the ED between July 2019 and January 2021. The inclusion criteria were children under the age of 18 years with odontogenic pain, demographics, insurance status, primary diagnosis, services provided in the ED, prescriptions given, total ED length of stay, and disposition. We classified these visits as necessary and unnecessary based on the treatment given. Data were analyzed using chi-square and student t-test.

Results
Among these patients, 52% were males with ages 9.3±4.7 years and a median of 9 years old. The primary diagnoses were dental caries (27%), tooth pain (26%), tooth infections (17%), traumatic tooth fracture (11%), and others comprising cavities, gingivitis, and oral mucosal infections (19%). Most patients were under Medicaid-managed care (67%), followed by those without insurance (17%). After ED evaluation, 70% of patients received non-steroidal anti-inflammatory drugs (NSAIDs), 55% had dental referrals, 28% had OMFS referrals, and 27% received antibiotics. This cohort was subdivided into necessary versus unnecessary ED visitation––with the majority of patients having tooth pain (17% vs. 33%) and dental caries (21% vs. 31%) that required NSAIDs (35% vs. 34%) and home discharge (98% vs. 99%).

Conclusion
The cost of 1 ED visit in New York City averages from 1400$ to 1600$, so avoiding these 155 unnecessary ED visits, about 250,000$ could be saved. Dental pain is highly prevalent among children, with a substantial increase in ED visits for atraumatic dental problems. The fact is that dental conditions can be treated more effectively in a dental clinic due to the availability of definitive care and the likelihood of continuity of care than in a hospital. Multiple strategies are required to reduce this usage and relieve the healthcare system pressure. Reducing barriers like lack of insurance, sociocultural deterrents, and language barriers improves access to optimal dental care. Efforts should be made to raise dental health awareness and improve access and utilization of oral health care services. These will benefit the patient and decrease the reliance on hospital ED for non-traumatic dental issues.


An Audit of Dental Visits in the Pediatric Emergency Department of a Community Teaching Hospital

Background
One in four adults in the United States live with a disability, making interactions between patients with disabilities and healthcare professionals inevitable. Despite this, numerous studies demonstrate that healthcare professionals lack confidence in providing equitable care to disabled patients. Several calls have been issued for improved anti-ableist and disability-specific healthcare education. However, there is a dearth of disability-focused continuing medication education (CME). Therefore, the aim of this study was to explore and assess patient-facing employees’ (1) willingness to participate in disability health training, and (2) self-perceived changes in confidence and attitudes towards patients with disabilities after completion of a disability-focused educational module termed the ADEPT-CARE protocol.

Methods
All patient-facing employees in our healthcare system were invited to voluntarily participate in the ADEPT-CARE module. The CME module of ADEPT-CARE consisted of a fifteen-minute video describing the protocol, which is a nine-step mnemonic for performing an equitable and comprehensive history and physical exam for a disabled patient, and a ten-minute ADEPT-CARE “in-action” standardized patient scenario. Voluntary pre- and post- module surveys assessed participants’ confidence and attitudes towards patients with disabilities on a 4-point Likert scale and included elements from Iezzoni et. al. and the Disability Attitudes in Health Care Scale. Descriptive statistics were used to analyze survey results. 

Results
Of the 14,410 patient-facing employees who were invited to participate in the training, 13,164 (91%) voluntarily completed the ADEPT-CARE module, and 1,542 (11.7%) completed the pre- and post-survey. Participants were most likely to be nurses, work in a non-surgical specialty, and have no prior training on disability. Completion of the module resulted in an increase in participants’ likelihood to agree that understanding their patients with disabilities was valuable (95.3% vs 98.2%, p<0.0001). Nearly all participants agreed that the ADEPT-CARE module improved their knowledge of disability health (n = 1,425, n = 94.6%), made sense (n = 1,472, 96.6%), increased their confidence in caring for patients with disabilities (n = 1,396, 93.1%), and will help them take better care of patients with disabilities (n = 1,463, 96.5%).

Conclusion
Healthcare professionals were willing to participate in voluntary training on disability. ADEPT-CARE was understood by a wide range of professionals and staff, and completing the training led to significant changes in participants’ self-perceived confidence and attitudes towards disabled patients. ADEPT-CARE has the potential to be a valuable teaching tool across other health systems to directly counter ableism in healthcare.

Improving Health Care Delivery for Patients with Disabilities: Implementing ADEPT-CARE Amongst Patient-Facing Employees at an Academic Medical Center

Background
Coronary artery disease (CAD) is the leading cause of death in the United States. In Hawaii, three of every ten deaths are due to CAD. Access to cardiac catheterization centers (CCC) is crucial for reducing morbidity and mortality, but most CCCs are concentrated in the capital, Honolulu. No prior studies have assessed the distribution of CCCs in relation to the demand and capacity for catheterization services in Hawaii using Geographic Information Systems (GIS). This study analyzed both current demand vs. capacity for CCCs, as well as projected optimal CCC locations based on time and distance considerations on the island of Oahu. 

Methods
GIS is a powerful tool with which location-allocation problems may be addressed. Data from the Hawaii Department of Health was implemented to estimate the number of patients in need of CCCs. Patients were then randomly distributed across residential areas in the location-allocation model. Using network analysis in GIS, residents’ travel time from their homes to the nearest CCCs was approximated. Travel time and demand vs. capacity maps were created to enable assessment of the accessibility of CCCs in each region and to highlight areas with unmet demand.

Results
Time-to-care analysis showed significant time burdens for patients in certain areas of Oahu. Under optimal traffic conditions, it took >60 minutes for patients in West Oahu and the North Shore, and >40 minutes for patients in Northeast Oahu to reach the nearest CCCs. Analysis of the demand vs. capacity of CCCs revealed the CCC in Central Oahu, which serves many of the patients with significant time burdens, exceeded its annual capacity by more than 985 patients. Meanwhile, all CCCs in South Oahu had significantly higher capacity than demand. To best decrease time burdens and mitigate capacity concerns for the greatest number of patients, an additional CCC should be established in West Oahu.

Conclusion
GIS analysis showed that the current CCCs on Oahu are not positioned to optimize patient outcomes. Patients in areas with significant time-to-CCC burdens likely face worse outcomes when they need emergent catheterization. This disparity could be remedied with the addition of CCCs closer to these regions, particularly in West Oahu. Looking forward, this model may be applied to other healthcare resources, such as emergency departments, to analyze current demand and geographical distributions and to influence future resource allocation. GIS has the power to improve healthcare efficiency, thus enhancing clinical outcomes.

GIS Analysis of Cardiac Catheterization Centers on the Island of Oahu


Purpose for Review 
This perspective piece has two goals: first, to describe issues related to artificial intelligence-based applications for cancer control as they may impact health inequities or disparities; and second, to report on a review of systematic
reviews and meta-analyses of artificial intelligence-based tools for cancer control to ascertain the extent to which discussions of justice, equity, diversity, inclusion, or health disparities manifest in syntheses of the field’s best evidence.
Recent Findings 
We found that, while a significant proportion of existing syntheses of research on AI-based tools in cancer control use formal bias assessment tools, the fairness or equitability of models is not yet systematically analyzable across studies. Issues related to real-world use of AI-based tools for cancer control, such as workflow considerations, measures of usability and acceptance, or tool architecture, are more visible in the literature, but still addressed only in a minority of reviews.
Summary
Artificial intelligence is poised to bring significant benefits to a wide range of applications in cancer control, but more thorough and standardized evaluations and reporting of model fairness are required to build the evidence base for AI-based
tool design for cancer and to ensure that these emerging technologies promote equitable healthcare.

Artificial Intelligence and Cancer Control: Toward Prioritizing Justice,
Equity, Diversity, and Inclusion (JEDI) in Emerging Decision Support
Technologies

**Scoring is only possible in the semifinals hall**

**Abstract:**



Analyzing the Quality of Reporting of AI Studies for Hip Fracture Detection

Background
The biopsychosocial model suggests that health outcomes are determined by the interplay of biological, psychological, and social factors. Within this framework, health follows a social gradient, in which socioeconomic status has a direct impact on health outcomes. In the United States, each group on the social ladder has better health than the group below it. These patterns of inequity are manifested through differential access to resources, including housing, education, and healthcare. 

In order to reduce these health disparities, the Upstate Medical Legal Partnership (MLP) was developed as an integrated, upstream approach to improve health outcomes for marginalized populations throughout Upstate South Carolina. More specifically, through a collaboration between Furman University, Prisma Health Upstate, and South Carolina Legal Services, the Upstate MLP coordinates and streamlines access to non-medical assistance when a medical problem is caused or exacerbated by a social or legal problem. The objective of this study was to qualitatively explore the impact of the MLP on health and quality of life for pediatric clients and their families. 

Methods
This study utilized the WHO social determinants of health (SDoH) framework to develop an interview guide. The interview guide assessed the effect of the MLP on health status, health access, and other SDoH domains. The MLP team interviewed 18 caregivers of pediatric patients who were referred to the MLP for assistance. Data analysis was conducted using the qualitative coding software NVivo using a grounded theory approach to understand the impact of MLP intervention on the health and well-being of pediatric clients and their families. 

Results
Prior to receiving MLP assistance, the caretakers reported three main areas of stress: difficulty balancing work and childcare, challenges adhering to treatment programs, and inhibited overall family functioning. However, by securing additional financial resources (SSI, Medicaid, TANF), facilitating custody proceedings, and providing social support for these families, the MLP was able to reduce the amount of stress perceived by these caregivers. Several downstream effects of this reduced caregiver stress were identified. Caregivers reported improved treatment compliance for themselves and their children, improved ability to balance work and childcare, and improved overall family functioning. 

Conclusion
Medical Legal Partnerships have the potential to improve health outcomes for caregivers and their children by securing economic resources, finalizing custody arrangements, and providing social support. The study demonstrated that MLP intervention allowed caregivers to have increased treatment compliance and improved family functioning, which has positive health implications for the pediatric clients and their caregivers.


Downstream Impacts of the Upstate Medical Legal Partnership: How Embedding Lawyers in Hospitals Can Be Used to Tackle the Social Determinants of Health

Background
8.3 percent of Americans do not have health insurance. Even for the 91.7 percent of patients with insurance, many surgical procedures are not covered, or are only partially covered by insurance. Previous studies have found that privately insured patients undergo elective hand surgeries in the 4th fiscal quarter at a significantly greater rate than publicly insured patients. This suggests that surgical decision making and timing may be subject to similar forces to those that govern consumer spending. 

It has been shown that rates of cosmetic surgery are positively correlated with US GDP, while rates of reconstructive surgery are not. Thus, surgeries may be differentially affected by personal finance.

Here we investigate the association between economics and surgical procedure utilization while attempting to understand how surgical procedures are differentially affected by the United States economy.

Methods
Healthcare Cost and Utilization Project net data were reviewed from January 1, 2001, through December 31, 2014, to collect hospital inpatient data for nine groups of surgical procedures: angioplasty, appendectomy, coronary artery bypass graft (CABG), cesarean delivery, cholecystectomy, fracture repair, joint arthroplasty, hysterectomy, and oophorectomy. Procedures that did not require prior authorization by Medicare were deemed non-elective, while procedures that did were deemed elective.

Statistical analysis was performed using IBM SPSS Statistics v29. Year-over-year average percent change in procedure utilization was calculated and plotted over time. Bivariate correlations were made for individual procedures with US GDP and Real Disposable Personal Income data.

Results
During the period studied 51,172,734 procedures were performed. For non-elective procedures, the largest year-over-year decrease of 7.82% occurred in 2010. For elective procedures, the largest year-over-year decrease of 4.10% occurred in 2011.

Cesarean delivery (r=0.584, 0.603), hip arthroplasty (r=0.968, 0.955), and knee arthroplasty (r=0.975, 0.981) were significantly positively correlated with US GDP and Real Disposable Personal Income, respectively. Angioplasty (r=-0.781, -0.778), appendectomy (r=-0.957, -0.958), CABG (r=-0.954, -0.956), cholecystectomy (r=-0.854, -0.789), hysterectomy (r=-0.948, -0.932), and oophorectomy (r=-0.972, -0.966) were significantly negatively correlated with US GDP and Real Disposable Personal Income, respectively. Surgical fracture repair was significantly correlated with neither US GDP nor Real Disposable Personal Income.

Conclusion
Qualitatively there was no difference in the year-over-year average percent change in surgical procedure utilization for elective versus non-elective surgeries. Three distinct groups of procedures were identified based on their negative, positive, or lack of correlation with the United States economy. Taken together, our findings suggest that the strength of the United States economy has a nuanced, non-negligible, impact on surgical procedure utilization.


Next from AMA Research Challenge 2023

Variation of the Brachial Artery Emerging through an Opening in the Median Nerve: A Case Report