Medical Specialties Commons^™

Bronchiolitis, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Clinical Practice Guidelines)

No abstract provided.

Central Hypothyroidism Following Neonatal Graves' Presentation, Emily Metzinger, Kelsee Halpin

Posters

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 …

Supporting Fathers And Partners In The Nicu, Tiffany Gladdis

Posters

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 …

Diabetes-Related Quality Of Life Assessment In Children Following Total Pancreatectomy With Islet Autotransplantation., Jacob M. Redel, Lindsey Hornung, Deborah Elder, Jaimie D. Nathan, Sarah Corathers, Kristin L. Rich, Maisam Abu-El-Haija

Manuscripts, Articles, Book Chapters and Other Papers

Total pancreatectomy with islet autotransplantation (TPIAT) can improve pain and reduce functional impairment associated with acute recurrent or chronic pancreatitis. However, long-term glucose monitoring and insulin therapy are often required, which can adversely affect the quality of life. We sought to evaluate diabetes-related quality of life (DR-QOL) in youth who underwent TPIAT and compare it to the youth with new-onset type 1 diabetes (T1D). The Pediatric Quality of Life Inventory™ 3.2 Diabetes Module (PedsQL™ DM) was used to assess DR-QOL in 46 youth (< 20 years old) who underwent TPIAT. The PedsQL™ DM scores were analyzed for statistically significant changes and minimally important clinical differences (MCID) over time post-TPIAT. Scores at 12 months (n = 52) and 24 months (n = 58) after diagnosis of T1D. The diabetes …

Measurable Residual Disease And Fusion Partner Independently Predict Survival And Relapse Risk In Childhood Kmt2a-Rearranged Acute Myeloid Leukemia: A Study By The International Berlin-Frankfurt-Münster Study Group, Romy E. Van Weelderen, Kim Klein, Christine J. Harrison, Yilin Jiang, Jonas Abrahamsson, Nira Arad-Cohen, Emmanuelle Bart-Delabesse, Barbara Buldini, Barbara De Moerloose, Michael N. Dworzak, Sarah Elitzur, José M. Fernández Navarro, Robert B. Gerbing, Bianca F. Goemans, Hester A. De Groot-Kruseman, Erin M. Guest, Shau-Yin Ha, Henrik Hasle, Charikleia Kelaidi, Hélène Lapillonne, Guy Leverger, Franco Locatelli, Riccardo Masetti, Takako Miyamura, Ulrika Norén-Nyström, Sophia Polychronopoulou, Mareike Rasche, Jeffrey E. Rubnitz, Jan Stary, Anne Tierens, Daisuke Tomizawa, C Michel Zwaan, Gertjan J L Kaspers

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: A previous study by the International Berlin-Frankfurt-Münster Study Group (I-BFM-SG) on childhood KMT2A-rearranged (KMT2A-r) AML demonstrated the prognostic value of the fusion partner. This I-BFM-SG study investigated the value of flow cytometry-based measurable residual disease (flow-MRD) and evaluated the benefit of allogeneic stem-cell transplantation (allo-SCT) in first complete remission (CR1) in this disease.

Methods: A total of 1,130 children with KMT2A-r AML, diagnosed between January 2005 and December 2016, were assigned to high-risk (n = 402; 35.6%) or non-high-risk (n = 728; 64.4%) fusion partner-based groups. Flow-MRD levels at both end of induction 1 (EOI1) …

Long Noncoding Rna Expression Independently Predicts Outcome In Pediatric Acute Myeloid Leukemia., Jason E. Farrar, Jenny L. Smith, Megan Othus, Benjamin J. Huang, Yi-Cheng Wang, Rhonda Ries, Tiffany Hylkema, Era L. Pogosova-Agadjanyan, Sneha Challa, Amanda Leonti, Timothy I. Shaw, Timothy J. Triche, Alan S. Gamis, Richard Aplenc, E Anders Kolb, Xiaotu Ma, Derek L. Stirewalt, Todd A. Alonzo, Soheil Meshinchi

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: Optimized strategies for risk classification are essential to tailor therapy for patients with biologically distinctive disease. Risk classification in pediatric acute myeloid leukemia (pAML) relies on detection of translocations and gene mutations. Long noncoding RNA (lncRNA) transcripts have been shown to associate with and mediate malignant phenotypes in acute myeloid leukemia (AML) but have not been comprehensively evaluated in pAML.

Methods: To identify lncRNA transcripts associated with outcomes, we evaluated the annotated lncRNA landscape by transcript sequencing of 1,298 pediatric and 96 adult AML specimens. Upregulated lncRNAs identified in the pAML training set were used to establish a regularized …

Irf7 And Unc93b1 Variants In An Infant With Recurrent Herpes Simplex Virus Infection., Megan H. Tucker, Wei Yu, Heather Menden, Sheng Xia, Carl F. Schreck, Margaret Gibson, Daniel A. Louiselle, T Pastinen, Nikita Raje, Venkatesh Sampath

Manuscripts, Articles, Book Chapters and Other Papers

Neonatal herpes simplex virus (HSV) infection is a devastating disease with substantial morbidity and mortality. The genetic basis of susceptibility to HSV in neonates remains undefined. We evaluated a male infant with neonatal skin/eye/mouth (SEM) HSV-1 disease, who had complete recovery after acyclovir but developed HSV-1 encephalitis at 1 year of age. An immune workup showed an anergic PBMC cytokine response to TLR3 stimulation but no other TLRs. Exome sequencing identified rare missense variants in IFN-regulatory factor 7 (IRF7) and UNC-93 homolog B1 (UNC93B1). PBMC single-cell RNA-Seq done during childhood revealed decreased expression of several innate immune genes and a …

Recruitment And Reach In A School-Based Pediatric Obesity Intervention Trial In Rural Areas., Bethany Forseth, Brittany Lancaster, Megan Olalde, Christie A. Befort, Rebecca E. Swinburne Romine, Meredith Dreyer, Kelsey Dean, Eve-Lynn Nelson, Ann M. Davis

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: The purpose of this study is to evaluate two recruitment strategies on schools and participant participation rates and representativeness (reach) within a pediatric obesity treatment trial tailored for families who live in rural areas.

METHODS: Recruitment of schools was evaluated based on their progress toward enrolling participants. Recruitment and reach of participants were evaluated using (1) participation rates and (2) representativeness of demographics and weight status of participants compared to eligible participants (who did not consent and enroll) and all students (regardless of eligibility). School recruitment, as well as participant recruitment and reach, were evaluated across recruitment methods comparing …

Ehealth Technology In Cardiac Exercise Therapeutics For Pediatric Patients With Congenital And Acquired Heart Conditions: A Summary Of Evidence And Future Directions., David A. White, Aimee M. Layton, Tracy Curran, Naomi Gauthier, William B. Orr, Kendra Ward, Meg Vernon, Matthew N. Martinez, Malloree C. Rice, Katherine Hansen, Megan Prusi, Jesse E. Hansen

Manuscripts, Articles, Book Chapters and Other Papers

Many children and adolescents with congenital and acquired heart disease (CHD) are physically inactive and participate in an insufficient amount of moderate-to-vigorous intensity exercise. Although physical activity (PA) and exercise interventions are effective at improving short- and long-term physiological and psychosocial outcomes in youth with CHD, several barriers including resource limitations, financial costs, and knowledge inhibit widespread implementation and dissemination of these beneficial programs. New and developing eHealth, mHealth, and remote monitoring technologies offer a potentially transformative and cost-effective solution to increase access to PA and exercise programs for youth with CHD, yet little has been written on this topic. …

Climate Change Imperils Pediatric Health: Child Advocacy Through Fossil Fuel Divestment., Sandra H. Jee, Elizabeth Friedman, Ruth A. Etzel, Vi T. Nguyen, Todd L. Sack, Kathi J. Kemper

Manuscripts, Articles, Book Chapters and Other Papers

Climate change poses an existential threat to children's health. Divestment of ownership stakes in fossil fuel companies is one tool available to pediatricians to address climate change. Pediatricians are trusted messengers regarding children's health and therefore bear a unique responsibility to advocate for climate and health policies that affect children. Among the impacts of climate change on pediatric patients are allergic rhinitis and asthma; heat-related illnesses; premature birth; injuries from severe storms and fires; vector-borne diseases; and mental illnesses. Children are disproportionately affected as well by climate-related displacement of populations, drought, water shortages, and famine. The human-generated burning of fossil …

Diagnostic Role Of Fractional Exhaled Nitric Oxide In Pediatric Eosinophilic Esophagitis, Relationship With Gastric And Duodenal Eosinophils., Panamdeep Kaur, Rachel Chevalier, Craig A. Friesen, Jamie Ryan, Ashley K. Sherman, Stephanie Page

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Eosinophilic esophagitis (EoE) is an eosinophilic-predominant inflammation of the esophagus diagnosed by upper endoscopy and biopsies. A non-invasive and cost-effective alternative for management of EoE is being researched. Previous studies assessing utility of fractional exhaled nitric oxide (FeNO) in EoE were low powered. None investigated the contribution of eosinophilic inflammation of the stomach and duodenum to FeNO.

AIM: To assess the utility of FeNO as a non-invasive biomarker of esophageal eosinophilic inflammation for monitoring disease activity.

METHODS: Patients aged 6-21 years undergoing scheduled upper endoscopy with biopsy for suspected EoE were recruited in our observational study. Patients on steroids …

Magnetic Resonance Image-Based Estimates Of Hepatic Blood Flow In Children With And Without Obesity; Implications For Physiologically-Based Pharmacokinetic Models, Yoon Cho, Sherwin S. Chan, Chance S. Friesen, Valentina Shakhnovich

Research Days

Background: Physiologically based pharmacokinetic models for simulating drug pharmacokinetics are useful to guide drug dosing for pediatric patients. Hepatic blood flow could be a useful variable to use in these models.

Objectives/Goal: In this study, we explored 2-D phase contrast non-invasive magnetic resonance imaging (MRI) to measure hepatic blood flow in children with and without obesity.

Methods/Design: In this IRB-approved study, we imaged pediatric patients with abdominal MRI with 2D phase contrast imaging of the descending aorta (AO) at the diaphragm, the inferior vena cava (IVC) at the right atrium, and inferior to hepatic drainage above the renal vein confluence …

Persistent Pediatric Breast Abscesses Following Initial Treatment At Tertiary And Community Centers, Derek Marlor, Kayla Briggs-Groves, Shai Stewart Md, Nelimar Cruz-Centeno, Charlene Dekonenko, Jason D. Fraser

Research Days

Introduction: Little data exist on the management of pediatric breast abscesses that fail initial treatment. Therefore, this study aimed to evaluate and report outcomes in these patients.

Methods: All patients <18-years-old treated for a breast abscess between January 2008 and December 2018 were included. Patients were divided into 2 groups: initial treatment at our institution (Group 1) and initial treatment at referring centers (Group 2). The primary outcome was disease persistence following treatment at our institution. Secondary outcomes included treatment modalities and patient characteristics.

Results: In total, 145 patients were identified: 111 in Group 1 and 34 in Group 2. Antibiotics alone were the initial treatment in 52.3% (n=58) of Group 1 patients and 64.7% (n=22) of Group 2 patients. Invasive treatment was more common in Group 1 (45.9% vs 5.8%; p<0.00001). Patients with persistent disease in Group 1 were treated with aspiration (n=7, 50%), I&D (n=5, 35.7%), antibiotics (n=1, 7.14%), and manual expression (n=1, 7.14%.), while Group 2 patients were treated with antibiotics (50%, n=17), aspiration (26.47%, n=9), I&D (17.65%, n=6), and manual expression (5.88%, n=2). Group 2 patients with persistent disease were more likely to be treated with antibiotics or a change in antibiotics (50% vs 7.14%; p=0.005). Following treatment at our institution, the rate of persistent disease was similar between groups (12.6% vs 11.8%).

Conclusions: Persistent breast abscesses may be treated with antibiotics in appropriate cases. Damage to the developing breast bud should be minimized. Disease …

Improvement On The Slopes: The Impact Of An Adaptive Snow Sports Program On Children And Young Adults With Disabilities, Stephanie Green, Mark T. Fisher, J Eichner, Matthew J. Mclaughlin

Research Days

Background: Adaptive downhill skiing has been described as a fun, safe, engaging recreational activity for those with disabilities (Sterba, 2006). There are numerous ways the alpine skiing can be modified to meet these athletes’ needs. For instance, athletes can use tethered skis, horizontal poles held by their instructors, or modified walkers. For those that have poor standing balance, or are non-ambulatory, sit-skis are an option, with or without outriggers to add additional support and balance for athletes with poor trunk stability or core strength. These options provide equal and accessible alternatives for those with disabilities to get out and enjoy …

A Case Of Dock8 Deficiency Treated With Dupilumab, Melissa Anderson, Brandon D. Newell, Hugo Escobar, Erin Stahl, Nikita Raje

Research Days

Background: Dedicator of cytokinesis 8 gene (DOCK8) deficiency is an immune disorder associated with autosomal recessive hyper-IgE syndrome, characterized by elevated IgE levels, atopic dermatitis, and predisposition to recurrent skin and lung infections.

Objectives/Goal: A 12-year-old male presented to Immunology clinic for DOCK8 deficiency. He was diagnosed in infancy due to diffuse papulopustular eruption positive for candidiasis and known family history. Past medical history included severe eczematous dermatitis, asthma, interstitial lung disease, food allergies, and poor growth, with cutaneous HSV and fungal infections, HSV keratitis, and MRSA bacteremia. Family history was notable for two siblings with DOCK8 deficiency, both deceased. …

Stewardship Opportunities For Cervical Lymphadenitis And Deep Neck Space Abscesses, Aaron Shaw, Brian R. Lee, Lauren Kazmaier, Emily Baker, Tina Dao, Sandra Arnold, Angela Myers

Research Days

Background: Cervical lymphadenitis (LAD) and deep neck space abscesses (DNSA) are common pediatric infections caused by similar bacteria. We sought to determine differences in presentation, diagnosis, and treatment between LAD and DNSA to identify antimicrobial and diagnostic stewardship opportunities.

Methods: Charts were obtained using ICD9/10 codes for retropharyngeal and parapharyngeal abscessed (DNSA), and LAD between 1/1/10-12/31/20 from two pediatric centers. 1981 charts were identified. Charts were excluded if the diagnosis was not a bacterial infection (e.g. Kawasaki disease), if the LAD was not in the neck, or if caused by less common bacteria (e.g. tuberculosis). Data on presenting signs, symptoms, …

Is It Too Complex? A Survey Of Pediatric Residency Program's Educational Approach For The Care Of Children With Medical Complexity., Kira Sieplinga, Christopher Kruger, Emily J. Goodwin

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Although Entrustable Professional Activities (EPAs) regarding pediatric training in care for children with medical complexity (CMC) exist, it is unknown what US pediatric training programs provide for education related to care of CMC and whether educators perceive that pediatric residents are prepared to care for CMC upon graduation.

METHODS: From June, 2021 through March 2022, we surveyed US pediatric residency program delegates about practice settings, current educational offerings, perception of resident preparedness regarding care of CMC, and likelihood to implement CMC education in the future.

RESULTS: Response rate was 29% (56 /195). A third of responding programs (34%, n …

Two Ais Cases, Two Surgeons, One Operating Room, One Day. The Results Of A Quality Improvement Initiative, Jonathan Warren, Robert C. Link, Sean Bonanni, John T. Anderson, Richard M. Schwend

Research Days

Background: To lessen surgical times for AIS patients undergoing posterior spinal instrumentation and fusion (PSIF), our department developed a quality improvement initiative where two AIS cases were completed in one day by a specialized team with two surgeons operating together in the same operating room (OR).

Objectives/Goal: We describe the results of this initiative and compare operative times and blood loss between cases to determine if operative time improves as experience with this structure increases.

Methods/Design: From 2017-2023, patients aged 10-18 years with AIS were prospectively scheduled to undergo primary PSIF on the dedicated “Two Spine Tuesday” at our institution. …

Respiratory Pathogen Panel Use In Hospitalized Infants <2 Months Of Age And Impact On Patient Management., Edward Lyon

Research Days

Background: Respiratory pathogen panels (RPP) are multiplex PCR platforms able to simultaneously detect several respiratory viruses. RPP utilization is not well described in infants < 2 months of age, who frequently require hospitalization for management of acute respiratory illness (ARI) and/or fever. Detection of a viral pathogen in this age group could impact the clinician’s decision to perform additional evaluation and administer antimicrobials.

Objectives/Goal: We sought to understand predictive features and clinical management impact of RPP use in infants < 2 months of age.

Methods/Design: Between October 2017 to September 2021, participants, aged < 18 years, hospitalized with an acute respiratory infection (ARI) were enrolled in Kansas City’s New Vaccine Surveillance Network (NVSN). Eligible patients were residents of Jackson County, had symptoms consistent with ARI (e.g., cough, fever, nasal congestion) lasting < 14 days, and enrolled within 48 hours of admission. For this study, only participants < 2 months of age were included. All participants had a research RPP, but results were not available to the clinician. Per provider discretion, some infants also received a clinical RPP (cRPP). Demographic characteristics, laboratory evaluations, and antimicrobial management were compared between infants with and without a cRPP.

Results: Of the 139 participants < 2 months of age, 57 (41%) had a cRPP (table 1). A cRPP was more frequently obtained in infants < 1 month of age (n=34 [47%]) compared with infants 1-2 months of age (n=23 [35%]; p=0.17). 35 (61%) participants with a cRPP had a parental report of fever while 41 (50%) of those without a cRPP had one reported. Only 20 (35.1%) of White, non-hispanic participants had a cRPP compared to 42 (51.2%) p=0.082 who did not have a cRPP. Participants who had blood or CSF culture collected were more likely to have a cRPP obtained, 47 (82.5%) p=

Conclusions: Overall, < 50% of infants < 2 months of age hospitalized with ARI received cRPP testing. Obtaining a blood or CSF culture was associated with increased cRPP usage. The length of stay was not different between the two groups. 35 viral infections went undetected in participants without a cRPP even with accounting for positive rapid NAAT testing, further investigation is needed to understand how this may influence clinical care.

Cardiac Biomarkers Differentiate Kawasaki Disease From Multisystem Inflammatory Syndrome In Children Associated With Covid-19, Mollie Walton

Research Days

Background: Kawasaki disease (KD) and Multisystem Inflammatory Syndrome in Children (MIS-C) associated with COVID-19 show considerable clinical overlap. The goal of this study was to determine if cardiac biomarkers can differentiate KD from MIS-C.

Objectives/Goal: The goal of this study was to determine if cardiac biomarkers differentiate KD from MIS-C.

Methods/Design: The International Kawasaki Disease Registry enrolled (n=2903) contemporaneous KD and MIS-C patients1st, 2020, through June 30th, 2022. The study population was confined to KD patients meeting American Heart Association KD criteria with no prior COVID-19 infection and MIS-C patients meeting Centers for Disease Control and Prevention criteria with confirmed …

Association Between Remote Monitoring And Interstage Morbidity And Mortality In Single Ventricle Patients Across Socioeconomic Groups, Bianca Cherestal

Research Days

Background: Despite improvements in outcomes over time, morbidity and mortality for infants with single ventricle (SV) heart disease remains high. Among other risk factors for mortality, infants of low socioeconomic status (SES) are known to be particularly vulnerable following stage 1 palliation.

Objectives/Goal: We sought to determine whether use of a novel remote monitoring program, CHAMP (Cardiac High Acuity Monitoring Program), mitigates differences in outcomes by SES for infants with SV during the interstage period.

Methods/Design: Using the CHAMP database, we identified 610 infants across 11 institutions enrolled in the program between 2014–2021. All enrolled patients’ families were provided with …

Pilot Study Using Sideline Hand-Grip Dynamometry To Assess Strength Changes In A High School Baseball Season: A Feasibility Study, Thomas Munro, Jason D. Yoderq, Brian R. Lee, Brian S. Harvey

Research Days

Background: Upper extremity injuries are common in baseball players. Objective measurements could assist in determining early signs of fatigue before injury occurs. Using HGD to measure strength changes may help identify early signs in the injury process. To our knowledge, HGD has not been tested on high school baseball players in the sideline setting. It is feasible to perform hand-grip dynamometry on-site at the high school level and HGD measurements will change throughout the season in varsity baseball athletes. Secondary aim: Asses HGD measurement in the context of injury/pain/fatigue/pitching.

Objectives/Goal: It is feasible to perform hand-grip dynamometry on-site at the …

Tracheostomy Dependance Patterns In Children With 22q11 Deletion Syndrome, Elie Khalifee, Meghan Tracy, Jill M. Arganbright

Research Days

Background: 22q11.2 deletion syndrome (22q11DS) is the most common chromosomal microdeletion syndrome and presentation often includes congenital heart disease (CHD), palate anomalies, and developmental delay. Due to the medical complexity of this syndrome, some patients require tracheostomy. To date, there is little in the literature regarding tracheostomy for these patients.

Objectives/Goal: our aim is to better delineate patients with 22q11DS who require tracheostomy, assess outcomes including decannulation and complications.

Methods/Design: This is a retrospective chart review of patients in our 22q Center’s repository. Inclusion criteria were a diagnosis of 22q11DS with a current or previous history of tracheostomy. Data collected …

Preoperative Srs-22 Scores Predict Postoperative Achievement Of Distribution-Based Mcid In Ais Patients Treated With Posterior Spinal Instrumentation And Fusion, Jonathan Warren, Cyrus Etebari, Morgan Whitmire, Kenneth Furlough, Brant Ansley, John T. Anderson, Richard M. Schwend

Research Days

Background: There is a growing body of literature assessing the role of preoperative patientreported outcome measures in predicting postoperative achievement of the minimal clinically important difference (MCID). To the best of our knowledge, there are no studies assessing whether preoperative SRS-22 scores are predictive of postoperative achievement of MCID in patient with adolescent idiopathic scoliosis (AIS).

Objectives/Goal: Our purpose is to determine if preoperative SRS-22 scores in patients with AIS who undergo posterior spinal instrumentation and fusion can predict postoperative achievement of MCID.

Methods/Design: SRS-22 forms were provided to all patients scheduled to undergo posterior spinal instrumentation and fusion. MCID …

Therapeutic Plasma Exchange To Alleviate Ventricular Tachycardia After Diphenhydramine Ingestion, Kaushal Dosani, Lejla Music Aplenc, Stephen Pfeiffer

Research Days

Background: The Covid-19 pandemic has adversely affected the mental health of children causing an increased incidence of suicide attempts. Diphenhydramine is a common household medication and is frequently ingested by children. Toxic doses of diphenhydramine can affect the cardiovascular and central nervous system. In the heart, diphenhydramine blocks fast sodium channels and potassium channels which can result in conduction abnormalities including sinus tachycardia, widening of QRS duration, ventricular tachycardia and torsades de pointes. Massive ingestion can cause severe cardiovascular collapse which may require ECMO support

Objectives/Goal: To describe a novel method of clearing highly protein-bound diphenhydramine molecules from circulation after …

Genes Predictive Of Aggressive Infant Acute Lymphoblastic Leukemia, Meghana Bhumireddy

Research Days

Background: Acute Lymphoblastic Leukemia (ALL) is a rapidly progressive cancer in which the bone marrow makes too many immature leukocytes that divide uncontrollably. KMT2A, or MLL, is a methyltransferase found in many types of leukemia, whose rearrangement (KMT2A-r) is present in approximately 2/3 of infants with ALL. KMT2A-r is associated with a very poor prognosis: roughly ⅔ of patients relapse within 1 year of diagnosis, and the relapsed KMT2A-r ALL is resistant to treatment (having nearly 100% morality). We explored gene expression in patient samples from three groups at diagnosis: KMT2A-r patients who relapsed, KMT2A-r patients who did not relapse, …

Drug Metabolizing Enzymes And Transporters May Help Determineeffective Budesonide Dosing In Eoe, Laurie Mccann, Lisa Harvey, Norah Almahbub, Wendy Y. Wang, Erin C. Boone, Janelle R. Noel-Macdonnell Phd, Rachel Chevalier

Research Days

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, …

Functional Evaluation Of A Novel Rpl30 Mutation And Its Role In Diamond Blackfan Anemia (Dba), Alexandra Prosser, Alexandria Cockrell, Danny Miller, Chris Seidel, Tamara Potapova, John M. Perry, Midhat Farooqi, Erin M. Guest, Jennifer Gerton

Research Days

Background: Bone marrow failure is life-threatening and requires prompt, intensive treatment, which is dependent upon identification of genetic drivers. Although there has been investigation into associated genetic mutations, especially in Diamond Blackfan anemia (DBA), the relationship between genotype and phenotype remains unclear.DBA has been identified as a ribosomopathy, also known as a disease associated with defects in ribosome biogenesis. We identified a novel heterozygous variant (c.167+769C >T) in the noncoding region of RPL30 in a patient with clinical diagnosis of DBA. Clinical RNA sequencing (RNA-seq) suggests the variant generates a novel splice acceptor site resulting in truncated RPL30 transcripts. Elucidation …

Increased Injury Rate After Covid-19 Infection In Elite Us Youth Soccer Players, Kyle Brougham, Jonathan Warren, Shannon Margherio, James Roberson, Brian Harvey

Research Days

Background: COVID changed the sporting world over the past several years. As the pandemic winds down, it is important to study what effects the virus has on the athletes we serve. As we learn to live and participate in sport with the virus, it is inevitable that athletes will continue to be impacted by COVID. To the best of our knowledge, there is no data on the effects that COVID infection has on elite youth soccer athletes in the United States.

Objectives/Goal: Our purpose is to determine the risk of injury after a COVID infection in youth soccer athletes at …

Indications For Early Surgical Intervention In Adolescents With Salter-Harris Ii Distal Radius Fractures, Cyrus Etebari, Jonathan R. Warren, Olivia Pruss, Sricharan Yadali, Vincent Staggs, Micah K. Sinclair

Research Days

Introduction: Currently, there is little information regarding risk factors for failure of nonoperative treatment in Salter-Harris II distal radius fractures (SHII-DRF). Our purpose is to identify predictors of which patients will require acute surgery and which will develop late malunion based on degree of deformity and skeletal maturity.

Methods: This was a review of SHII-DRFs in patients 9 to 18 years of age, from 2017-2020. Demographics, initial displacement, displacement post-reduction, and displacement after cast removal were evaluated. Skeletal maturity was determined using Sander’s classification. These values were compared between patients who underwent casting alone, underwent acute surgery, or required late …