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  The Implementation of a Pectus Bar Insertion ERAS Pathway

  Todd A. Glenski, Emily Weisberg, Christian M. Taylor, Brandon Layton, Andrea Melanson, and Sameer Lalani

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  A Genomics Driven Pluripotent Stem Cell Model of Infant Acute Lymphoblastic Leukemia

  Meagan Vacek, Jacqelyn Nemechek, Julia Draper, Irina Pushel, Bradley Thornton, Molly Leyda, Priyanka Prem Kumar, Midhat S. Farooqi, Jay L. Vivian, Erin M. Guest, and John M. Perry

  Acute lymphoblastic leukemia in infants (iALL) is a high-risk subtype of childhood leukemia, with poor survival outcomes despite intensive therapies. Rearrangement of KMT2A (KMT2A-r) on chromosome 11q23 is the most frequent cytogenetic abnormality in iALL, occurring in 70% of cases. KMT2A-r is associated with chemotherapy resistance, early relapse, and rapid leukemic progression, all of which contribute to poor survival outcomes. The most common KMT2A-r in iALL is KMT2A::AFF1 (MLL::AF4), derived from t(4;11)(q21;23) and arises in utero as shown in multiple clinical studies. Infant ALL’s cell of origin is thought to be a very early hematopoietic precursor, with transcriptomic studies of iALL blasts showing similarities to hematopoietic stem and progenitor cells (HSPCs), multipotent progenitors and early lymphoid progenitors (ELPs). Despite this, much is unknown regarding how KMT2A::AFF1 transforms early hematopoiesis, the cell types of origin, or how it alters the severity of the disease. Additionally, existing iALL models fail to mimic human disease, which creates an essential, ongoing need for the development of representative model systems for this devastating disease. To understand the development and progression of iALL, we have created a highly controlled human induced pluripotent stem (iPS) cell model to uncover the genomic and epigenetic landscape and cellular evolution of KMT2A::AFF1 iALL. Preliminary studies reveal our ability to differentiate human iPS cells into functional HSPCs with multilineage differentiation capacity and successfully express the doxycycline inducible KMT2A::Aff1 transgene in a controlled manner. We have also generated an in-house reference library of single cell RNA sequencing data and have compared transcriptomes of KMT2A-r blasts from iALL patients. This data revealed KMT2A-r cells are transcriptionally similar to ELPs. The goal for future investigations is to use single cell genomics to investigate transcriptomic changes during hematopoietic differentiation of our KMT2A:Aff1 iPS cell line. We also plan to compare these cells to publicly available single cell RNA sequencing data from multiple datasets that encompass fetal bone marrow and HSPC development. Through this research we expect to discover unique mechanisms of iALL emergence and progression with the long-term goal to uncover targets specific to iALL for the development of new therapies.

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  Exploring bidirectionality in US pediatric global health programs

  Anik Patel, Pauline Kamau, Ashley Combs, and Megan McHenry

  Introduction: Over the last two decades, GH programs have offered experiences at partner sites through established global health partnerships (GHPs). Historically, GHPs have been one-directional, favoring partners from resource-rich settings. These partnerships are now being reevaluated through the lens of equity and decolonization. We seek to understand how US pediatric GH faculty define the concept of “bidirectionality”, assess perspectives on their institution’s practice of bidirectional activities, and explore perceived benefits and challenges to prioritizing bidirectionality within their own GHPs. Methods: This is a cross-sectional qualitative survey study on bidirectionality of 206 AAMC-accredited US pediatric residency programs. 24 survey responses from global health faculty or staff at these programs were received. The REDCap-based online survey was developed by iterative repetition with a diverse author group. Data was collected from January 18, 2023 to February 20, 2023. Free-text responses were reviewed and coded through an inductive approach. Results: The majority of participants were “very familiar” with bidirectionality. Bidirectionality was described in terms of reciprocity, equity, and collaboration. Examples of programs’ own efforts to be bidirectional varied, and examples given varied to the degree of achieving bidirectionality. Perceived benefits of bidirectionality included friendship and mutual respect, educational opportunities, and opportunities to achieve equity. Perceived challenges of bidirectionality included technical barriers, cultural barriers and mismatched expectations, and financial barriers. Despite challenges, participants expressed persistence and the ability to be flexible in order to create and maintain bidirectional GHPs. Conclusions: A shared concept of bidirectionality exists, whereby partners collaborate at the personal and institutional level, forming a relationship based on mutual respect and understanding, resulting in a reciprocal and equitable exchange of benefits. Perceived benefits of bidirectionality can be difficult to quantify and justify in comparison to perceived challenges of bidirectionality. US pediatric GH programs should continue to reevaluate their own GHPs to assess if they are achieving true bidirectionality.

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  “It's so expensive and isn’t any better! Or is it?” A Comparative Analysis of Price per ECMO Hour, Intracranial Hemorrhage, and Survival Rates in Neonates on Bivalirudin vs. Heparin

  Johanna I. Orrick, Jessie Charbonneau, Kari L. Davidson, Alexandra Oschman, and John M. Daniel IV

  Background: Heparin has been the anticoagulant of choice for Neonatal ECMO for the past thirty years. It has the benefit of being well studied and having a low production cost. As bivalirudin is a newer anticoagulant, it has not been as widely studied and has a higher production cost, many centers are concerned about changing to a newer, more expensive agent. Bivalirudin has been studied from both an efficacy and cost perspective in adult patients (Sun et al 2021) and pediatric VAD populations (Burnstein et al 2023). While some safety and efficacy data exist for neonates, there are few if any cost analyses between Heparin and Bivalirudin. Methods: This was a single center, retrospective study conducted over 51 months in neonates receiving heparin or bivalirudin at an 86-bed, Level 4 NICU. The primary objective was to evaluate the price per ECMO hour, incidence of intracranial hemorrhage (ICH), and survival rates were examined. Data from 68 patients was collected (diagnosis, gestational age, anticoagulation type and cost, ECMO duration, number and cost of component changes, anticoagulation lab costs and frequency, ICH occurrence, and survival outcome). Total cost per ECMO hour was calculated. Drug costs were calculated utilizing average wholesale price (AWP). Quantitative analysis was conducted using two-tailed tests and chi-squared analyses. Significance was set at p = 0.05. Results: No significant differences between weight and gestational age were noted. Thirty-nine patients received continuous infusion heparin, and 29 received bivalirudin infusions with short periods of heparin for trialing off ECMO per hospital protocol. No statistically significant difference was found in cost per ECMO hour between bivalirudin ($54.14) and heparin ($58.27). There was a trend towards significance in survival for patients treated with bivalirudin compared to heparin, with a statistically significant decrease in ICH seen with bivalirudin (p < 0.05). Conclusion: Our study is one of the first to illustrate that the cost difference per hour of ECMO between heparin and bivalirudin is negligible, approximately $4.00. Additional analysis utilizing proprietary, center specific, contract pricing revealed cost savings with bivalirudin. Additionally, there was a clinically and statistically significant reduction in ICH using bivalirudin over heparin. While our data did not show a statistically significant difference in survival, our data did trend towards significance. As this was a small sample size and single center study, wide study across the ECMO community is warranted.

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  Rare Complications Associated with Use of Bovine Pericardium

  Mohamed Aashiq Abdul Ghayum, Nitin Madan, William Gibson, and Sanket Shah

  Background Bovine Pericardium (BP), with numerous and improving preparation techniques, has been used extensively for over 50 years in repair of simple and complex congenital heart defects. It has several advantages over other surgical materials. However, there is a paucity of data in the pediatric population regarding complications associated with BP. Herein, we report two rare complications noted with BP use. Case Description Case 1. A 14-month-old male, with trisomy 21 and complete Atrioventricular canal defect, repaired using BP. A routine surveillance echocardiogram showed a mass attached to the atrial septum and atrial aspect of the left atrioventricular valve (Figure 1A). Surgical intervention was deemed necessary as serial echocardiogram after admission showed an enlarging mass. Pathology showed a fibrin thrombus undergoing transition to granulation tissue. Case 2. A 10-month-old girl, with mosaic trisomy 9 and Tetralogy of Fallot, underwent a transannular patch repair using BP. An outpatient follow-up echocardiogram showed fluid collection around RVOT patch with intraluminal compression with a confirmatory CT angiogram (Figure 1B). Redo median sternotomy revealed purulent appearing fluid within an intact patch. Fluid culture showed no growth and pathology sections revealed fibrous tissue with a mixed inflammatory cell infiltrate including necrotizing granulomas. Conclusion These two cases illustrate that, albeit rare, complications can occur with the use of BP in the pediatric population. In our patients, thrombus and sterile abscess occurred within six months postoperatively and were incidentally identified. Literature is presently inconclusive about the exact mechanism for the inflammatory reaction noted with BP use and warrants further research.

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  ECMO Clinical Practice Committee: Empowering the frontline staff

  Michelle McKain, Shayna Evans, Johanna I. Orrick, and Kari L. Davidson

  Background: Extracorporeal Membrane Oxygenation (ECMO) is a complex artificial life support for patients with severe respiratory and cardiac failure. Children’s Mercy was an early ECMO pioneer, establishing a program in 1987. Despite CM’s successful history, wide variations existed between regional management of ECMO (Schwartz et al., 2022). Studies show that patient outcomes, resources, staff satisfaction, and financial metrics improve with implementation of an interprofessional shared governance team (Olender et al., 2019; Schwartz et al., 2022). In 2016, the ECMO Clinical Practice Committee (ECP) was created, tasked with addressing projects aimed at ECMO process improvements. Methods: ECP members include Registered Nurses (RNs) and Respiratory therapists (RTs) from ECMO leadership, ECMO Core Team (primers), and ECMO bedside specialists. Their home units include the Neonatal, Pediatric, and Cardiac Intensive Care Units. The committee meets every other month to focus on education, retention, clinical practice improvement, protocol development, and project implementation. It is led by an ECMO bedside specialist RN. ECP receives ideas from Situation Target Project (STP) submissions or passed down from ECMO leadership and specialist meetings. Results: Successful ECP projects have included safe ECMO patient mobility plans, anticoagulation guidelines, staffing model change and development, education offerings for non-ECMO caregivers, tandem therapy protocols, standardizing patient assessments, and development of the ECMO Quality Improvement (EQI) checklist. These implementations have improved patient care, optimized resource management, enhanced multidisciplinary cooperation, and increased bedside staff satisfaction. Conclusion: Environments where the bedside staff contribute to decision-making processes are linked to employee satisfaction and improved patient outcomes (Kowalski et al., 2020). Children’s Mercy’s ECMO program’s growth and success are due in no small part to ECP’s collaboration, innovation, and dedication.

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  An Unusual Cardiomegaly Culprit: Case Report Of A Hemodynamically Significant Portosystemic Shunt

  Zoetta L. McLoughlin MD, Melanie Kathol, and Amanda McIntosh

  Background: Cardiomegaly discovered in the fetal or neonatal period may be the first sign of cardiac disease. However, the differential diagnosis for cardiomegaly with a structurally and functionally normal heart includes cardiomyopathies as well as non-cardiac etiologies, including extracardiac shunt lesions and vascular malformations, among others. Thus, unexplained cardiomegaly requires further investigation for extracardiac anomalies. In this case, we focus on an unusual etiology of diffuse cardiac dilatation – intrahepatic portosystemic shunt – that was initially misdiagnosed as dilated cardiomyopathy. Case Description: A 9-year-old male with history of learning difficulty and tall stature was seen for follow-up of diffuse cardiomegaly present since fetal life, initially diagnosed as likely dilated cardiomyopathy. He was otherwise healthy and asymptomatic. Echocardiogram demonstrated persistent four chamber and aortic root dilatation with preserved biventricular systolic function, normal wall thickness, and normal valvular function. However, a new finding of hepatic vein dilatation prompted further evaluation. Abdominal ultrasound showed abnormal intrahepatic vasculature concerning for portosystemic shunt. After confirmation on CT angiogram, he underwent resection of the abnormal vascular connection. He had an uncomplicated post-operative course and repeat echocardiogram showed improvement in ventricular size. Conclusion: Cardiomegaly is a common presentation of underlying cardiac disease but can less commonly be caused by extracardiac abnormalities. Here, we highlight a case of intrahepatic portosystemic shunt as an uncommon, yet important etiology to consider when evaluating unexplained cardiomegaly in a pediatric patient.

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  Delirium on Admission to the CICU

  Spencer Wittmeyer, Jaime Silva-Gburek, and Kelly S. Tieves

  Background: Delirium is increasingly recognized in the pediatric cardiac intensive care unit (CICU) with an incidence up to 67% and is associated with worse outcomes including increased mortality, prolonged hospitalization, and increased rates of intubation and mechanical circulatory support. The Cornell Assessment for Pediatric Delirium (CAPD) is the only validated tool for the diagnosis of delirium in the pediatric population. The CAPD may be limited in children with developmental disabilities as it does not account for baseline ability in scoring. Prior work has identified low specificity for the CAPD in children with developmental disabilities and those requiring mechanical ventilation. This may lead to overdiagnosis and possible ‘overtreatment’ with pharmacologic therapies for delirium. Study aims were to identify the incidence of patients who were diagnosed with delirium upon CICU admission and describe characteristics of this population including age, developmental status, and medical complexity. Methods: Retrospective single-center cohort study. All children admitted to the CICU between October 1, 2021 to December 31, 2022. Delirium was defined as a CAPD score >9. Results: In total, 683 patients were admitted with a median age of 10 months. Admission delirium screening was performed in 584 (85%) patients, 196 (33.3%) met the a priori definition of delirium. Younger patients were more likely to have a positive delirium screen on admit with a median age of 6 months compared to 17 months in those with a negative screen (p=0.00). There were no significant differences in the frequency of chromosome abnormality (p=0.17), duration of CICU (p=0.196) or hospital length of stay (p=0.09) in patients with or without a positive delirium screen. Conclusion: Infants were more likely to screen positive for delirium upon admission to the CICU. Further investigation is needed to explore factors associated with positive CICU admission delirium screen.

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  Development of a Kineisophobia Scale for Adolescents with Heart Disease: A Preliminary Analysis of Validity and Reliability

  David A. White, Jami Gross-Toalson, Emily Cramer, Lindsey Malloy-Walton, Mollie Walton, Laura Martis, Brandy Enneking, Kelli M. Teson, Jessica S. Watson, Dara Watkins, and William R. Black

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  Identification of critical illness-related corticosteroid insufficiency after congenital heart surgery with next generation sequencing

  Juan S. Farias, Nicholas Diehl, Lori A. Erickson, Jenny Marshall, Nataliya Kibiryeva, Kelly S. Tieves, Jorge Cross-Bu, and Jaime Silva-Gburek

  Introduction: Critical illness-related corticosteroid insufficiency (CIRCI) which is characterized by relative inadequate cortisol levels in relation to increased demand during periods of severe stress is common after cardiac surgery and is a cause of hemodynamic instability. The purpose of this study was to identify possible genetic abnormalities related to CIRCI in pediatric patients after congenital heart surgery. Methods: Single-center retrospective study of neonates who underwent cardiac surgery between August 2018 to July 2020. We included patients who had obtained postoperative cortisol levels and next gen DNA-sequencing (NGS) as previous standard of care. Analysis methods are displayed in Figure 1. Results: Seven gene mutations were present in 75-100% of patients with CIRCI with a 0-25% incidence of those corresponding mutations in patients in the non-CIRCI group. The CIRCI group had 100% incidence of heterozygous gene mutation on STX1A with splicing and loss of function compared to 0% incidence in the non-CIRCI group. No differences were seen in demographics between both groups. The CIRCI group with STX1A mutation had lower cortisol level and longer intensive care length of stay. There were no differences in median mixed venous oxygen saturation and vasoactive inotropic score upon immediate postoperative admission, duration of mechanical ventilation, and hospital stay compared to the non-CIRCI group without STX1A mutation. Conclusion: Rapid testing for gene mutations, specifically STX1A, has the potential to detect patients at risk for critical illness-related corticosteroid insufficiency with hemodynamic instability. Further research in larger patient cohorts is required to determine the statistical and clinical significance of these genetic abnormalities.

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  Multi-disciplinary Collaboration And The Use Of Technology in The Reduction Of Cardiac Surgical Site Infections

  Kelly Fehlhafer, Tiffany Mullen, Elizabeth Chang, Stacy Reynolds, Shannon Lysaught, Stephanie Doughty, and Jessica Nichols

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  Standard Atrial Epicardial Wire Placement Leads to Improved Atrial Signal Identification and Pacemaker Sensing

  Nir Atlas, William Gibson, J Hermsen, A Harmon, J Torgeson, Lindsey Malloy-Walton, and N Von Bergen

  Background: Atrial arrhythmias are common after pediatric cardiac surgery and are associated with increased morbidity and mortality. Atrial epicardial wires (AEW), utilized to diagnose and treat atrial arrhythmias, are known to malfunction during post-operative care. There are no pediatric prospective studies examining ideal placement of AEW. Methods: This prospective multicenter pilot study compared atrial amplitudes, pacing sensitivities and thresholds via AEW placed at Bachmann’s Bundle (BB) and the right-sided interatrial groove (RSIG) versus the surgeon’s standard placement (control locations) in 26 patients aged less than six years old undergoing cardiac surgery. Participants received four total AEW - two at the experimental locations (BB-RSIG) and two at control locations. An AtriAmp system was used to obtain an atrial ECG to calculate atrial and ventricular amplitudes. We documented pacing sensitivities and thresholds by connecting AEW to a temporary pacing box. We calculated descriptive statistics and used ANOVA test to detect differences across groups. Results: N=26 patients were represented. There were no demographic differences between hospitals. The combined mean patient characteristics at time of surgery included: age 3.2 yr (SD 3.6), weight 14.6 kg (SD 12.4), cardiopulmonary bypass time 111.8 min (SD 51.1). Within hospitals and combined, comparison of AEW characteristics showed greater atrial amplitude at BB-RSIG versus control locations (Table). Phrenic nerve capture was common during test pacing (n=13/26). Conclusion: This is the first prospective multicenter pediatric study to suggest that standard atrial wire site selection may improve atrial signals obtained from the atrial epicardial wires.

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  Treatment of Post-Operative Pain in Children with Severe Neurologic Impairment

  Jordan Keys, Jessica L. Bettenhausen, Jessica L. Markham, and Matthew Hall

  Introduction The assessment of pain in children with severe neurologic impairment (SNI) can be more challenging than in neurotypical children. Objective To describe: 1) the type, number of classes, and duration of post-operative pain medications for common procedures among children with SNI and 2) the variability in pain management strategies across children's hospitals, specifically for opioid administration. Methods This retrospective cohort study, using the Pediatric Health Information System database, included children aged 0-21 years hospitalized with SNI who underwent common procedures during 2019. We defined SNI using previously described high-intensity neurologic impairment (HINI) diagnosis codes and identified six common (>500 encounters) procedures among our population (e.g. fracture treatment, tracheostomy, spinal fusion, ventriculoperitoneal shunt placement (VP shunt), colostomy, or heart valve repair) using the clinical classifications software (CCS). Children excluded from this cohort did not undergo any of the six preselected procedures, had multiple procedures performed, or received an organ transplant. Medication classes were defined using the Classification of Palliative Care Pain Medications. Non-opioid medications were excluded from analysis to hone in on opioid administration. Clinical information was summarized using bivariate statistics. Results The cohort consisted of 7180 children; 65.9% had 1 HINI diagnosis, and 12.0% had 3 or more HINI diagnoses. The proportion of post-operative days with pain medications ranged from the least 28.8% (VP shunt) to the most 71.7% (spinal fusion). The number of classes of pain medications ranged from the least 0-1 (VP shunt) to the most 2-4 (Tracheostomy, Table 2). We observed notable variability in the use of opioids across hospitals (0-100% overall, p< 0.001) and by procedure (Range 0-100% across procedures, Figure 1.) Discussion/Conclusion Children with SNI experienced variability in the type, number of classes, and duration of all pain medications delivered post-operatively. This included an inconsistent use of opioids based upon hospital and procedure. Our findings indicate the need for both a standardized approach to the assessment of pain and post-operative pain management for children with SNI.

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  Prevalence of Iron Deficiency in Patients with Inherited Bleeding Disorders

  Thomas Cochran, Brian R. Lee, and Shannon L. Carpenter

  Background: Patients with bleeding disorders have greater propensity for blood loss and therefore may have a higher prevalence of iron deficiency (ID) when compared to the general population. However, current literature focuses on adolescent females and few studies have assessed the overall prevalence of ID in children with inherited bleeding disorders. Aims: This study aims to identify the prevalence of ID in children with an inherited bleeding disorder. Methods: A retrospective analysis of children with any inherited bleeding disorder seen in Children’s Mercy Hospital’s Hemophilia Treatment Center between 2010 and 2020 was performed. Iron deficiency was defined by recently published serum ferritin thresholds outlined by the National Health and Nutrition Examination Surveys. Results: There were 798 patients with inherited bleeding disorders who were included in this analysis. Of the 306 patients who had serum ferritin collected, 162 (53%) had ID. In patients who had ID, 68% were female and 48% were aged 6 to 15 years. Notably, of the 129 (26%) males with serum ferritin collected, 40% had ID. The proportion of patients who had ID in each age group is displayed in figure 1. Of the 757 patients who had blood counts measured, 346 (46%) were anemic. Of the patients with anemia, 232 (67%) were male. The proportion of anemic patients in each age group is displayed in figure 2. Conclusion: The prevalence of ID in children in our cohort is considerably higher than the 10% prevalence estimated in the general pediatric population. Prior epidemiologic analysis of ID and iron deficiency anemia is mostly focused on adolescent females. However, the high prevalence of anemia in males with inherited bleeding disorders suggests that they are at comparable risk. Considering only 24% of males had ferritin collected, it is possible that the prevalence of ID in males is higher than this report suggests.

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  Central Hypothyroidism Following Neonatal Graves' Presentation

  Emily Metzinger and Kelsee Halpin

  Background: Neonatal Graves’ disease is a rare disorder of neonatal autoimmune hyperthyroidism secondary to the transplacental passage of thyroid-stimulating hormone receptor antibodies. Although neonatal Graves’ disease is transient, it is associated with cardiac dysfunction, intrauterine growth restriction, prematurity, craniosynostosis, and developmental delay and can be life-threatening. Additionally, infants with neonatal Graves’ disease can rarely present with primary or central hypothyroidism later in infancy or childhood. This is suspected to be due to the disruption in the hypothalamic-pituitary-thyroid axis or development of the thyroid gland. Clinical Case: Here we describe a case of neonatal Graves’ disease that has been complicated by persistent central hypothyroidism requiring levothyroxine treatment. This was a preterm infant with tachycardia, biventricular heart failure, and hepatomegaly who was transferred to a higher level of care NICU for cardiac and respiratory failure. Pregnancy was complicated by history of maternal Graves’ disease status post radioiodine ablation. Maternal TRAB and thyroid levels were unavailable. Initial thyroid studies on DOL 1 were notable for suppressed TSH of <0.02mcIU/mL, elevated free T4 6.9ng/dL, and elevated total T4 >24.9mcg/dL. Total T3 was normal at 161ng/dL (50-452ng/dL) on DOL 2, and TSI was elevated at 4.8 (TSI Index, normal

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  Supporting Fathers and Partners in the NICU

  Tiffany Gladdis

  The NICU can be an incredibly stressful environment for both the infant and its parents. Unlike many traumatic events, the NICU experience can often feel like an ongoing trauma, with the stay often involving highs and lows, new diagnoses, changes in prognosis, multiple procedures, and a rollercoaster of emotions. Additionally, the NICU can also trigger trauma responses for parents who have had previous traumatic experiences. When working with families in the NICU, it is important to use a Trauma Informed Care lens to ensure that the whole family is understood and adequately supported (Sanders & Hall, 2007). Perinatal Mood and Anxiety Disorders (PMAD) can be a result of prolonged stress related to the trauma of the NICU experience. While much of the attention is often given to the infant and birthing parent, it is important to also consider the impact on the father or non-birthing parent. Both parents are susceptible to developing PMADs and this presentation will focus on the experience of the father or partner.

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  Bone Marrow Transplant For Macrophage Activation Syndrome In Systemic Juvenile Idiopathic Arthritis​

  Shailly Gaur, Michael J. Holland, J Allyson Hays, and Ibrahim A. Ahmed

  7yo w/ systemic juvenile idiopathic arthritis who developed macrophage activation syndrome and interstitial lung disease non-responsive to steroids, immunosuppression, and directed biologics with significant adverse reactions who required chemotherapy and eventual bone marrow transplant leading to complete resolution of symptoms.

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  Clinical Course of a Patient With Agammaglobulinemia Caused by SLC39A7 defect

  Thao Le, Emily Farrow, Alvin Singh, Isabelle Thiffault, and Nikita Raje

  Case Report: A 10-year-old unimmunized boy initially presented to the hospital at 18-months of age with pneumonia and failure to thrive. He had multiple infections including Escherichia coli urosepsis, viral croup, chronic otitis media with bilateral ruptured tympanic membranes, and bacterial pneumonia. On physical examination, he was ill appearing and had diffuse crackles. His laboratory work-up showed leukocytosis, normocytic anemia, undetectable immunoglobulin (Ig) G, A, and E, low IgM (28 mg/dL), absent B cell with normal T cell (7800 mm3) and NK cell (527 mm3) counts, and low zinc level (63 mcg/dL). Genetic testing was negative for Bruton tyrosine kinase (BTK). Ig replacement therapy (IgRT) was initiated. Despite therapy he had persistent chronic rhinosinusitis and chronic cough. Computed tomography (CT) scan of the sinus and chest showed pansinusitis and bronchiectasis with mucoid impaction, predominantly in the lower left lobe. He was treated with inhaled corticosteroids and chest physiotherapy. He underwent functional endoscopic sinus surgery and bronchoscopy, which showed non-typeable Haemophilus. He was then treated with a course of Augmentin. He also consistently grew below the 3rd percentile while his mid-parental target height is close to the 50th percentile. He was started on growth hormone and has responded well. Exome sequencing showed compound heterozygous variants in the SLC39A7 gene encoding the zinc transporter, ZIP7. This leads to an autosomal recessive agammaglobulinemia-9, a primary immunodeficiency syndrome with recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. The family declined prophylactic antibiotics despite persistent infections. At 10 years of age, he continued to have worsening chronic sinusitis and bronchiectasis. A trial of prophylactic antibiotics with Amoxicillin was initiated. Discussion: Our patient is a 10-year-old male with compound heterozygous variants in SLC39A7 presenting with agammaglobulinemia, short stature, and bronchiectasis. He continued to have chronic recurrent sinopulmonary infections despite therapeutic IgG level on IgRT. Starting prophylactic antimicrobials earlier may be helpful in reducing lung injury and preventing infections

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  Clinical Presentation and Differential Diagnosis of a 10-year-old Presenting with Unerupted Maxillary Central Incisor: A Case Report.

  Dev Patel, Robin Onikul, Amy Burleson, Brenda S Bohaty, Jenna Sparks, Neena Patel, and A Naidu

  Delayed eruption of permanent teeth can be caused by numerous factors including nutritional deficiencies, tooth positioning, presence of supernumerary tooth, or presence of a cyst impeding eruption. The keys to identifying the cause of delayed eruption are good clinical and radiographic exam, along with obtaining a complete and accurate history from the patient and parent. This case report details a 10-year-old female presenting to the Children’s Mercy Kansas City Dental Clinic with chief concern for an unerupted upper anterior tooth. The patient’s medical history is noncontributory, and she has no known allergies. This case report will include the patient’s clinical and radiographic exam, differential diagnosis, and appropriate referral for definitive care.

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  Comparative Study of Pain Perception with Use of Vibration and/or Cold Stimulation Applied During Local Anesthetic Delivery in a Dental Setting: A Systematic Review

  Tara Craven, Gage Williams, and Brenda S Bohaty

  Delivery of local anesthetic can be one of the most difficult parts of the procedure for pediatric patients undergoing dental treatment and can prevent the child from being able to cooperate for treatment as well as instill anxiety for future visits.1 Several methods can be utilized to help mitigate pain control during the local anesthetic injection including behavior management, vibration, cold sensation, warming the anesthetic, and topical anesthetic.4 These methods are essential to helping the child have a good experience and ultimately be able to tolerate treatment for caries management and a long term positive view of the dentist. One technique that has been previously researched is the use of vibration and cold stimulation when delivering local anesthetic. Vibration and cold stimulation can block the afferent pain fibers (A delta and C fibers), an idea based on the gate control theory, thus reducing pain.11 These two methods, cold stimulation and vibration, can be especially advantageous for a pediatric population because they are both non-invasive. This systematic review is aimed at reviewing randomized control studies to evaluate the efficacy of using vibration and/or cold stimulation devices while administering local anesthesic in order to lower pain perception and dental anxiety. Several modern devices have been invented to introduce vibration and/or cold stimulation that can be utilized during dental treatment however, research on these devices is limited. Additionally, a systematic review is needed to guide further research as well as a proposed design study to further evaluate the efficacy of using vibration and/or cold stimulation during local anesthetic delivery.

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  Drug metabolizing enzymes and transporters may help determine effective budesonide dosing in EoE

  Laurie McCann, Lisa Harvey, Norah Almahbub, Wendy Y. Wang, Erin C. Boone, Janelle R. Noel-Macdonnell, and Rachel Chevalier

  Background: Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder diagnosed in children with painful or difficult swallowing, vomiting, or poor weight gain. Current treatment models adopt a trial-and-error approach in regard EoE treatment, including restrictive elimination diets, proton pump inhibitors, and topical budesonide. This approach can delay effective treatment which increases risk of disease progression and increases medical costs to families for frequent clinic visits and endoscopy. Objectives/Goal: The objective of this study is to determine the CYP3A5 genotype and expression of patients with eosinophilic esophagitis to discover which patients will respond to standard dosing of topical budesonide treatment (1, 2). Budesonide is a known drug substrate of CYP3A5 protein and single polymorphic changes are known to affect drug metabolism. By determining the CYP3A5 genotype, we aim to correlate treatment response to topical budesonide treatment, leading to more targeted and individualized dosing of budesonide. Allelic variant *1 (wild-type) has shown high substrate metabolism (1). Allelic variant *3 (most common), *6 , *7 have shown reduced substrate metabolism (1). The ultimate goal of this study is to aid in the development of a simple serum test to check a patients’ CYP3A5 genotype at the time of EoE diagnosis, prior to initiation of topical budesonide. Methods/Design: This is a single center retrospective study ongoing at Children’s Mercy Hospital in Kansas City, Missouri using serum and esophageal tissue samples from the already established, ongoing Gastroenterology Repository for Information in Pediatrics biorepository (GRIP) from patients <20 years>old, enrolled from 8/1/2017 to 11/1/2022. For this interim analysis, we had samples from 22 patients for genotyping and mRNA extraction. Digital droplet PCR (ddPCR) was used for mRNA quantification. Results: Of the 22 samples, nineteen had *3/*3 CYP3A5 alleles (86.3%), two had *1/*1 alleles (9%), and one had *1/*3 alleles (4.5%). CYP3A5 ratios were performed, and the initial results of this small sample size so far show that expression does not vary between genotype. Compared to CYP3A4, there is more CYP3A5 expression in the esophagus than CYP3A4, as noted in prior studies in adults. ddPCR was able to successfully measure CYP3A5 expression in esophageal biopsies confirming this as a valuable tool to quantify mRNA in these small tissue samples. Conclusions: These initial results are consistent with already published data and will help lay the groundwork for larger, more in-depth studies. We anticipate more data forthcoming, as the collection of consented patients is ongoing. Future, larger prospective studies are needed to further propagate the development of precision therapeutics of budesonide in EoE patients.

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  Lessons from a Community Health Elective in Rural Guatemala on Cultural Humility

  Roxana Guggenmous

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  My Global Health Experience - Eldoret, Kenya

  Megan Carroll

  Describes her experience in Eldoret as a 4th year medical student.

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  Practicing Pediatrics in Lake Atitlan, Guatemala

  Chandra Swanson

  Describes her experience working in Lake Atitlan, Guatemala.

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  Solitary Median Maxillary Incisor and Holoprosencephaly: A review of the literature

  Benjamin Olson, Robin Onikul, Amy Burleson, Brenda S. Bohaty, Jenna Sparks, and Neena Patel

  A solitary median maxillary incisor (SMMCI) is a rare anomaly that affects approximately 1:50,000 live births. The presence of an SMMCI tooth may be an isolated finding or may be associated with other anomalies such as Holoprosencephaly (HPE). Early recognition of SMMCIS is important given the possibility of other associated findings that may impact pediatric growth and development. The purpose of this clinical case is to report the clinical findings associated with a nine-month-old patient who presented to our clinics with a primary solitary median maxillary incisor and a diagnosis of HPE. This presentation will review the literature regarding the medical and dental findings associated with HPE and will discuss strategies for appropriately diagnosing and managing care for such patients.