Posters

Follow

• 

  Early Cholestasis and Vitamin K Deficiency Secondary to Biliary Atresia presenting as Coagulopathy and Thymic Hemorrhage

  Abbey Elsbernd and Lauren Amos MD

  Background Bleeding and progressive coagulopathy are established symptoms of early cholestasis, including extrahepatic biliary atresia. We present a patient with bleeding secondary to vitamin K deficiency and cholestasis-induced fat malabsorption with unusual presentation of mediastinal mass. Objective Describe a case of late-onset vitamin K deficiency and cholestasis ¬¬presenting as jaundice and coagulopathy with associated bleeding into thymic structures Design/Method Case report Results A 4-week-old term male infant was brought to the ED with fussiness and bruising. Prior to presentation, he was afebrile and followed regularly with his primary care provider for jaundice below phototherapy thresholds. Infant received vitamin K at birth. In the ED, infant was tachypneic with retractions and grunting. Physical examination was notable for diffuse jaundice and two 1 cm bruises along shoulder and midline thoracic spine. No hepatosplenomegaly was noted. Chest x-ray was significant for mildly widened mediastinum. Labs demonstrated elevated WBC 19.68 x10(3)/mcL, Hgb 10.8 gm/dL, Platelet count 287 x10(3)/mcL. LFT notable for mixed direct/indirect hyperbilirubinemia with total bilirubin 11.1 mg/dL, direct bilirubin 5.6 mg/dL, indirect bilirubin 5.5 mg/dL. DAT was negative. Coagulation studies were significantly abnormal, with PT >125 sec and aPTT >250 sec; INR was unable to be completed. Fibrinogen was 406 mg/dL. A repeat set of coagulation studies were similarly abnormal. Infant received 2 mg vitamin K for three days, 50 IU/kg KCentra, and 15 mg/kg fresh frozen plasma. Factors VII and IX were low, factor VIII was high, and factor V was normal consistent with late-onset vitamin K deficiency bleeding. Coagulation studies normalized after these interventions. An echocardiogram and computed tomography scan of the chest were obtained due to respiratory distress identifying an anterior mediastinal mass bifurcating the thymus. Due to concern for solid appearance of the mass, a biopsy was completed demonstrating only normal thymic tissue, suggestive of bleeding into his thymic structures as cause of mass. He was able to be discharged with ongoing stability in coagulation labs but with ongoing fat malabsorption and persistent cholestasis. He followed closely with hepatology outpatient and was ultimately diagnosed with biliary atresia with Kasai procedure completed at 8 weeks of age. Conclusion Bleeding associated with Vitamin K deficiency and cholestasis may present variably in neonates, including intracranial bleeding, bruising, and coagulopathy; in this case, our patient presented with thymic bleeding and mediastinal mass. Vitamin K deficiency is correctable in the acute setting, however, early identification and further evaluation is indicated to address underlying causes of cholestasis.

• 

  Hearing Loss In Children With 22q11.2 Deletion Syndrome

  Lori Yaktine, Amanda Moore, Jamie Hamm, Blaine Crowley, Meghan Tracy, Janelle R. Noel-Macdonnell PhD, Kim Graiser, Bernice Marrow, Hansoo Song, Srivats Narayanan, Nikita Raje, Donna McDonald-McGinn, and Jill M. Arganbright

  22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome, with most recent published prevalence of 1:2,140 live births. Hearing loss is common in children with 22q11.2DS and has been reported to occur in 32-60% of people. Hearing loss is typically conductive in nature secondary to chronic eustachian tube dysfunction and chronic otitis media with effusion (COME). Close monitoring of hearing and the middle ears is recommended to detect COME and the need for ear tubes. Additionally, there is a high prevalence of speech delay in children with 22q11.2DS, stressing the importance of close audiometric evaluation and medical intervention as appropriate. While prior studies confirm a relationship between hearing loss and 22q11.2DS in children, there is a lack of data regarding frequency, type, and specific features of hearing loss for children with this syndrome.

• 

  Increasing Palliative Care Team Involvement in Pediatric Hematopoietic Stem Cell Transplant Patients

  Meagan Vacek, Lisa Tarbell, Melissa List, Erin Hall, Jennifer Linebarger, Kelstan Ellis, Gina Jones, and Joel Thompson

  Background: Palliative care facilitates communication, helps with physical and psychological symptom management, and assists in goals of care and advance care planning discussions.1 Multiple organizations, including the American Academy of Pediatrics and American Society of Clinical Oncology encourage palliative care engagement and their involvement with hematopoietic stem cell transplant (HSCT) patients has been shown to be beneficial as HSCT is associated with a high degree of morbidity and possible mortality.2-3 Objective: To increase the number of PaCT consults for patients receiving HSCT for our targeted diagnoses from 48% to 75% by December 2023. Methods: Chart review was conducted for patients who underwent HSCT from July 2020 to July 2022. Demographics documented included reason for and date of HSCT, date of PaCT consult and living status. A targeted diagnosis list was compiled based on which patients were felt to benefit most from palliative care involvement: relapsed or refractory leukemias and lymphomas, myelodysplastic syndrome, high risk myeloid leukemias and metabolic disorders, such as Hurler syndrome. The first plan-do-study-act (PDSA) cycle included discussion of the project at division meetings and education regarding palliative care and evidence of its involvement in HSCT patients. The second PDSA cycle involved revision of the HSCT referral form to include the question “Is PaCT consulted.” During this time, PaCT also started attending the weekly transplant team meetings to discuss current and upcoming patients. Results: Baseline data from July 2020 to July 2022 revealed 48 patients underwent HSCT, 25 of whom had a targeted diagnosis. PaCT met 12 of the 25 patients (48%). From the initiation of the project on 1/1/23 to 11/30/23, 14 patients with a targeted diagnosis underwent HSCT. Eight of the 14 patients (57%) received a PaCT consult. Conclusions: Palliative care involvement in pediatric oncology is well established, but its role in HSCT patients continues to be explored. As HSCT patients receive more intense therapy, have frequent deaths in intensive care units and can have limited opportunity for end of life planning due to rapidly changing clinical courses, early integration of PaCT could allow for decreased symptom burden and distress for both patients and families.4 Future PDSA cycles to further increase involvement include adding PaCT consultation to the transplant evaluation order set in the electronic medical record and review of the comments on the completed HSCT referral forms to identify possible barriers in the PaCT consultation process.

• 

  Parents’ Perception of an Intensive Interdisciplinary Pain Treatment for Amplified Pain Syndrome

  Jacqueline Pabis PhD, Sabrina Ung, Jenny Scheurich, and Dustin Wallace PhD

  Introduction: Intensive interdisciplinary pain treatment (IIPT) is an effective treatment for youth impaired by chronic pain (Claus et al., 2022). IIPT programs incorporate parents in treatment, as parental distress has been found to impact health and functioning in youth with chronic pain. Research has suggested parent satisfaction may be related to increased child adherence, and in turn, reduced pain (Gorodzinsky et al., 2012). There is limited research on parental satisfaction with IIPT and the role of parent-provider communication. Method: Parents (n=99) of children in an IIPT program completed questionnaires related to treatment satisfaction, parent-provider communication (e.g., provider listened carefully, provider showed respect, provider used clear explanations), and perceived child functioning/mental health. Questionnaires were completed anonymously, approximately one week after program completion. Descriptive and inferential statistics were conducted, with qualitative analysis of parents’ written feedback providing additional context. Results: Descriptive analyses revealed overall strong ratings for communication across providers and satisfaction with the program. Correlations showed greater ratings of communication were associated with greater program satisfaction, as well as with higher perceived child functioning and mental health. Forward linear regression, controlling for perceived child functioning, revealed that among communication variables, respect from the provider (b=.39, p=.01) and use of clear explanations (b=.32, p=.01) accounted for the greatest variance in parent satisfaction (R2=58%). Qualitative analyses found most parents considered IIPT a “life changing,” positive experience. Additional feedback focused on logistics (e.g., insurance/billing), child experience (e.g., intensity level), parent involvement (e.g., increased parent therapy), and post-program transitions (e.g., to school). Conclusions: Parents overall have high satisfaction with IIPT, which could have important ramifications for family participation during and after treatment. Results highlight the importance of parents feeling respected by providers and the family’s perception that the provider used clear explanations. Parents’ qualitative feedback will be discussed in detail to consider further potential enhancements.

• 

  Single Center Retrospective Comparison of Bivalirudin and Heparin for Therapeutic Anticoagulation in Pediatric Patients

  Clayton Habiger and Shannon L. Carpenter

  Background: The pharmacological choice for continuous anticoagulation therapy in pediatric patients has classically been unfractionated heparin. However, with heparin there are risks of treatment resistance in pediatrics given differences in developmental hemostasis, and contemporary medications such as bivalirudin offer a valuable alternative. Bivalirudin binds to thrombin and has shown encouraging results compared to heparin in pediatric patients receiving ECMO, but no comparison has been made in patients receiving therapeutic anticoagulation. Three years ago, Children’s Mercy Pediatric Hematology department encouraged bivalirudin use over heparin use for therapeutic anticoagulation requiring a continuous infusion. Objectives: Compare clinical and laboratory outcomes in patients receiving bivalirudin and continuous heparin for therapeutic anticoagulation secondary to a thrombotic event. Methods: A retrospective chart review between 1/1/13 to 12/31/22 was performed and looked specifically at patients who had a pediatric hematology consult for therapeutic anticoagulation who were not on ECMO or CRRT. Patients who were on prophylactic dosing or were using the medication for prophylaxis at therapeutic ranges were excluded. Results: 46 patients received bivalirudin during this time while 135 patients received heparin. The time to therapeutic range was significantly shorter in the bivalirudin group compared to the heparin group (3.7 hours vs 18.6, respectively). Additionally, the bivalirudin group had fewer monitoring labs (0.09 vs 0.15), RBC transfusions (0.0019 vs 0.0097), plasma transfusions (0.00074 vs 0.0048), and dose changes (0.025, 0.54) per medication hour (all p<0.05). Both groups had similar rates of bleeding events (6.5% vs 16.3%; p=0.52) despite bivalirudin having more patients who had concurrent bleeding at the time of anticoagulation induction (21.7% vs 5.2%; p<0.05). None of the bivalirudin patients failed to achieve a therapeutic level while 18.6% of heparin patients required a change in anticoagulation due to failure to achieve therapeutic goal. Finally, when monitoring labs (heparinased PTT and Anti-Xa) were standardized to a percentage of goal there was significantly less variation in the bivalirudin group (p<0.001). The average age was older in the bivalirudin group (9.9 vs 1.1) so to account for this, patients were subdivided into under and over 6 months of age. There were 13 bivalirudin and 64 heparin patients who were under the age of 6 months and 33 bivalirudin and 71 heparin subjects older than 6 months of age. The same differences were noted in both subgroups (shorter time to therapeutic range, fewer monitoring labs, RBC transfusions, and dose changes, and more lab monitoring variability). There was no difference in bleeding events in both subgroups when compared with their age cohort. The bivalirudin group had fewer patients with congenital heart conditions (11% vs 47%) and this difference was still noted after subdividing the age groups. Conclusions: Pediatric patients who received bivalirudin had shorter time to a therapeutic range, less lab variability, fewer dose changes, fewer monitoring labs and fewer transfusions with similar bleeding rates compared to patients who received unfractionated heparin.

• 

  Something's Gnawing at Me

  Catharine Kral and Brian Harvey

  17-year-old female presented to Sports Medicine clinic with a chief complaint of bilateral hip pain and difficulty walking who was found to have bilateral ovarian teratoma.

• 

  Speeding Up Time: An Old Back in a Young Athlete

  Carey Wagoner and Greg Canty

  Case of a 16 year old female competitive dancer with chronic back pain. Previous diagnosis of mechanical low back pain being treated by PT without improvement. Further workup demonstrated bilateral spinal synovial cysts at L4/L5 facet joints. Patient underwent IR guided aspiration and steroid injection with resolution of her symptoms and ultimately returned to dance.

• 

  Telehealth Implementation of a Young Adult IBD Clinic: Uptake, Benefits to Patient Care, and Challenges

  Angela Combs MA, Alaina Linafelter, Jordan Sevart, and Michele H. Maddux

  Introduction: Since the COVID-19 pandemic, pediatric psychologists have been at the forefront of telemedicine expansion to ensure access for patients and families to needed mental health services. This has required adaptations across the care continuum – from scheduling to service delivery to documentation. This poster aims to summarize the telehealth (TH) application of a Young Adult IBD Clinic (YAC-IBD) that provides transition preparation to youth with Inflammatory Bowel Disease (IBD). Methods: In April 2020, the YAC-IBD was converted from in-person visits to a virtual visit format. Since then, 119 youth ages 17-21 (inclusive) have been seen in this clinic. This clinic is staffed by a pediatric psychologist, nurse practitioner, and pharmacist, all of whom are programmatically dedicated to youth with IBD. As part of YAC-IBD, youth and caregivers complete a standard battery of psychosocial screeners (not described herein). Qualitative feedback from patients/caregivers and clinic providers was obtained on feasibility, challenges, and solutions to converting multidisciplinary visits to a telemedicine format. Opt-in to be seen in the YAC-IBD, no-show, cancelation, and rescheduling rates were also evaluated. Results: Qualitative feedback from patients/caregivers revealed preference for TH visits, due to fewer scheduling constraints and the convenience of seeing their provider from their college campus. Feedback from clinic providers revealed the benefit of less repetition across providers, improved access, and more collaborative treatment planning. Challenges include distractions, connectivity issues, and privacy concerns. Opt-in rate increased by approximately 20.0%. No-show rates from 2-years prior to 2-year following TH implementation decreased from 25.7% to 21.0%. Cancelation rates decreased from 37.61% to 23.13%, and rescheduling rates decreased from 39.45% to 30.63%. Conclusions: While the transition from in-person to TH in the YAC-IBD involved logistical challenges, data on satisfaction and show rates suggest that TH implementation is a promising format for transition planning and support to youth with IBD.

• 

  Transition Skills Lab: A Telehealth Intervention for Improving Healthcare Transition in Youth with Special Health Care Needs

  Angela Combs MA, Alaina Linafelter, Jordan Sevart, and Michele H. Maddux

  Introduction: Few interventions exist to provide hands-on practice of key health management tasks to youth with special health care needs (YSHCN). The Transition Skills Lab was adapted from Jerlym Porter’s work and piloted as a virtual intervention in YSHCN. Methods: Sixteen young adults participated in the virtual Transition Skills Lab, during which they practiced three key patient competencies pertaining to health care tasks: reading an insurance card, reading a pill bottle label, and scheduling an initial visit with an adult doctor. Participants were then asked to rate their confidence on skills taught within the intervention on a four-point scale from ‘very unsure’ to ‘very sure.’ Results: Findings revealed that most felt very sure (43.8%) or pretty sure (43.8%) they could find their insurance policy ID on their insurance card. Similarly, over half of participants (56.3%) reported they could find co-pay amounts on their insurance card. All participants were either very sure (75.0%) or pretty sure (25.0%) they could make an appointment with an adult doctor and nearly all were very sure (50.0%) or pretty sure (43.8%) they knew what information an adult doctor’s office needs to make their first appointment. All participants were very sure (62.5%) or pretty sure (37.5%) they could find the name/dose of their medicine by looking at the label. Nearly all participants felt very sure (43.8%) or pretty sure (50.0%) they could tell if they had prescription refills. Finally, most participants were very sure (50.0%) or pretty sure (37.5%) they knew what information their pharmacy needs to fill a new prescription. Conclusions: The virtual Transition Skills Lab increased youth skill-building and confidence across several key health care tasks. Future research should replicate this in a larger sample. Transition skills should also be assessed longitudinally to understand the long-term impacts of the Transition Skills Lab in YSHCN.

• 

  Double Aortic Arch with Atresia of the Left Aortic Arch Proximal to the Left Common Carotid Artery in a Patient with PHACE Syndrome – A Management Conundrum

  Mohamed Aashiq Abdul Ghayum, Anmol Goyal, Aliessa P. Barnes, and Sanket Shah

  Background Cardiac anomalies in PHACE syndrome (P: posterior fossa anomalies, H: hemangiomas, A: arterial lesions, C: cardiac abnormalities, E: abnormalities of the eye) often consists of complex aortic arch anomalies with double aortic arch (DAA) being an uncommon association. Atresia of the proximal segment of the left arch in DAA is extremely rare and can pose a diagnostic and management conundrum due to formation of a loose vascular ring and asymptomatic nature as seen in our case. Case Description A 5-year-old male, diagnosed with PHACE syndrome, at a different center was noted to have an incidental finding on head imaging of a right aortic arch (RAA) with an aberrant left subclavian artery. He was seen in our center for his follow up after relocation. Clinically, he was asymptomatic, growing well with no respiratory symptoms or dysphagia. His echocardiogram showed RAA with aberrant origin of the left subclavian artery along with the left common carotid from a distal trunk suspicious of a DAA. On cross sectional imaging, a DAA was appreciated with each arch giving rise to a common carotid artery and a subclavian artery with a vertebral artery (Figure 1A and 1B). The presumed portion of the left arch proximal to the common carotid artery did not have any discrete contrast enhancement but the proximity of the left and right carotid arteries suggested ligamentous continuity between the two arches completing the double arch and forming a vascular ring (Figure 2). A ductal dimple was appreciated on the undersurface of the left common carotid suggestive of a left sided ductus (Figure 2). There was no significant tracheal or left mainstem bronchus compression between the pulmonary trunk and distal left arch. Based on the asymptomatic presentation and discussion with family, our consensus was to not intervene surgically. Discussion: The diagnosis of this rare type of DAA with PHACE syndrome has not been previously described to our knowledge. An echocardiogram can assess common arch anomalies associated with this syndrome, however, cross-sectional imaging with CT angiography or MRI can help differentiate this rare diagnosis from its close mimics. Proximity of the right and left carotid arteries, symmetric four vessel sign at the thoracic inlet, posterior course of a patent segment of the atretic left arch and presence of the ductal dimple under the left common carotid are important diagnostic clues that can help differentiate this rare variant of DAA. Although surgical intervention has been performed in limited reported cases, diagnostic accuracy is paramount as patient may remain symptomatic if only the ductal ligament or atretic arch ligament is divided and the other left intact. Given the “loose vascular ring” and asymptomatic nature, patient specific discussion should be considered with the family to assess optimal management strategy. Conclusion: Aortic arch anomalies are common in PHACE syndrome, however, rare variants of DAA can be seen. Keeping a high index of suspicion and complementing cross sectional imaging with baseline echocardiography even in asymptomatic cases can be useful for diagnostic and management considerations as seen in our case.

• 

  Transposition of the great arteries with intramural left main coronary artery: Salient imaging findings and description of two operative techniques

  Joshua Holbert, Manasa Gadiraju, Sanket Shah, and Edo Bedzra

  Background: Transposition of the great arteries (TGA) is a common cyanotic critical congenital heart disease, with a feasible prenatal diagnosis. Arterial switch operation (ASO) with/without VSD closure is the preferred surgical approach with added challenge when an intramural coronary artery (IMC) is present. ASO is technically quite demanding with IMC, and incidence of post-operative complications and mortality are potentially higher. We present our recent TGA-IMC experience focusing on salient features identified on echocardiography, CT and invasive angiograms, as well as variations in ASO surgical techniques for repair. Methods: Our echo imaging acquisition required high frequency transducers and shallow image depth in the para-sternal short axis plane, with focus on the aortic root; color Flow Doppler optimization with narrow color box, CF Color Setting and low Nyquist limit was also used. CT angiograms were performed with retrospective gating and breath-hold, after contrast bolus of an Omnipaque-240 contrast/saline mixture (70%-30%). Images were obtained at normal neonatal heart rate of 140s/min with appropriate dose reduction technique. Invasive angiograms were performed in the cardiac Cath lab, with balloon occlusion aortograms using a 5Fr Berman catheter and a combination of camera angulations. Results/Discussion: Two consecutive patients with TGA/intact ventricular septum and intramural left main coronary artery were identified. Both coronary artery systems originated from the right facing sinus in TGA (2 R, AD, Cx Leiden classification). The left main coronary artery had an intramural course, coursing through the pulmonary/septal/posterior commissure and then normally bifurcated to left anterior descending and circumflex arteries. Echocardiographic hallmark for the intramural course was the side-by-side origins of the two coronary arteries from the same sinus and the LCA course between the commissure and the aortic wall. On CT angiogram, key findings were an acute angle origin and subtle caliber change at the extramural coronary exit. Two different surgical approaches were undertaken. In one, the coronary button to be taken en bloc for transfer to the neo-aorta. Ischemia due to inadvertent left coronary artery injury, necessitated patch augmentation of the left main coronary artery. In the other, unroofing of the LCA intramural segment into sinus 1 enabled the transfer of two separate coronary buttons. Both patients had an uneventful subsequent post-operative course. Conclusion: Transposition of the great arteries with intramural left or right coronary artery presents a surgical challenge during ASO repair. By focused trans-thoracic echocardiography, anomalous/intramural coronary artery in TGA can be suspected. The intramural course can be confirmed by ECG gated CT angiograms, with measurement of intramural length, which can assist in operative planning. A recent report from a single center series suggest coronary unroofing with separate 2-button coronary transfer may be associated with lower risk of coronary and ischemic complications. Our limited experience suggests advance imaging with CT angiograms can help determine length of intramural segment, and feasibility of coronary artery unroofing, and 2-button transfer technique. Our institutional experience presents an opportunity for further exploration of the best surgical technique for TGA-IMC with a multi-center approach and longer term follow-up.

• 

  Expanding the Winter Warmth

  Sarah Gwazdacz

  Reviews the efforts to expand collection of winter apparel for refugee families in Kansas City.

• 

  Global Health Elective - Philippines

  Hannah Ho

  Provides an overview of experiences working in the Philippines as a pediatric resident.

• 

  Healthcare in Under-Resourced Areas

  Gabrielle Fleming, Ryan Northup, Bill Houseworth, and Lori Housworth

  Describes pediatric resident's experience working in the inpatient unit, ER, PICU, and NICU in Cambodia.

• 

  Himalayan Health Exchange: Kargiakh Medical Expedition

  Rachel Oldfather

  Medical expedition to remote Himalayan villages involving high-altitude treks, improvised clinics, and immersion in the local Buddhist culture.

• 

  Importance of Tropical Medicine

  Chia-chi Angela Fu, A Clinton White, Miguel Cabada, and Ryan Northup

  Overviews the importance of tropical medicine to society and global health.

• 

  Safe Sleep Education for Local Refugee and Immigrant Populations

  Sara Jones

  Provide Safe Sleep education to local refugee and immigrant populations through their resettlement agency Jewish Vocational Services (JVS) with resources available in their first language.

• 

  A case report of a 48-year-old female with cauda equina syndrome in the setting of disseminated MRSA infection

  Aimee Lambeth, Sarah Eickmeyer, and Stephanie Fortune

  To present an interesting case of cauda equina syndrome due to disseminated MRSA, where inpatient EMG was useful in diagnosis and treatment planning.

• 

  ADA Deficiency: Improvement in Immune Function after Enzyme Replacement Therapy

  Esosa Adah and Nikita Raje

  Introduction: Adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID) is characterized by severe lymphocytopenia affecting T-, and B-,lymphocytes, with non-immunological manifestations including neurodevelopmental deficits, sensorineural deafness, and skeletal abnormalities. Treatment modalities include enzyme replacement therapy(ERT) and/or autologous gene therapy or hematopoietic stem cell treatment. We report a 9-month-old female with ADA deficient T-B-NK+ SCID treated with ERT while awaiting stem cell treatment. Case Description: A 9-month-old female with a history of failure to thrive, hypotonia and loss of developmental milestones had genetic testing done that showed variants ADA c.911 T>G, c.302G>A. She was admitted for further work up. Lymphocyte subsets showed CD3 117 mm ^3, CD4 55 mm^3, CD8 50 mm ^3, CD19 7 mm^3, and CD 16/56 cells 108 mm^3. Patient was diagnosed with T-B-NK+ SCID. ADA level noted to be

• 

  Bowel Cleanout Prior to Intrathecal Baclofen Pump Implantation: Effects on Acute Post- Operative Gastrointestinal Complications

  Amanda Lindenberg, Brittni Walton, Sathya Vadivelu, and Matthew J. McLaughlin

  Background: Intrathecal baclofen (ITB) pumps have been used for management of spasticity and dystonia There is limited data on immediate post-operative complications such as GI adverse events after surgery for ITB pump related procedures. This study aimed to compare patients who underwent a pre-operative bowel cleanout to those who did not and the relationship with post-operative nausea, vomiting and constipation requiring an escalation of their bowel regimen. Design: Retrospective cohort study. Setting: Pediatric acute care hospital. Participants: All patients who underwent new ITB pump and/or catheter placement from January 2015-December 2022. Interventions: Preoperative bowel clean out. Main Outcome Measure: Quantity of children requiring escalation of bowel program compared to home regimen after ITB implantation and rates of nausea and/or emesis after ITB implantation. Results: Of the 97 procedures performed in the study period, including new pump and catheter implantations and catheter revisions, 62% (n= 60) were instructed to complete a bowel clean pre-operatively. There was a significant difference between patients who had emesis in those who did not undergo a bowel cleanout preoperatively when compared to patients that did undergo a bowel cleanout (p=0.018). A chi-square test of independence demonstrated there was no significant relationship between performance of a cleanout and the need to increase their bowel regimen post-operatively (chi squared value= 0.0062, p=0.937382). Conclusions: Overall, it appears that escalation of a bowel regimen is typically required during a post-ITB implant admission regardless of if a preoperative bowel cleanout is performed. Therefore, it should be carefully considered for each individual patient. As constipation may contribute to emesis, an immediate escalation of the bowel regimen in the post-operative period should be considered.

• 

  Evaluating a Newborn Infant with Pancytopenia for WHIM Syndrome

  Shayan Sazdar, Thao Le, and Nikita Raje

  Introduction Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency caused by a gain-of-function mutation in CXCR4. A complication of WHIM syndrome is severe neutropenia, which can result in fatal bacterial infections. Given the rarity of the disease and variability of clinical presentations, WHIM syndrome can be difficult to diagnose and manage. Case Description A full term male infant was hospitalized for hypoxic ischemic encephalopathy after delivery. Physical exam was unremarkable. During his hospitalization, he was found to have progressive pancytopenia. Initial lymphocyte subsets showed a significant T cell lymphopenia of 1325 mm3 CD3+, 920 mm3 CD4+, 390 mm3 CD8+, 42 mm3 CD19+, and natural killer (NK) cell count of 28 mm3. Naive CD4+ and CD8+ counts were also low. Immunoglobulin levels, lymphocyte to proliferation for mitogen, newborn screen, Epstein-Barr virus, and parvovirus were normal. Repeat lymphocyte subsets showed persistently low T, B, and NK cells without improvement. A comprehensive bone marrow panel showed a pathogenic variant in CXCR4. At two-years-of-age, he continues to have severe neutropenia. He has not had severe infections and has not required granulocyte-colony stimulating factor (G-CSF) therapy. Discussion WHIM syndrome may not present with all features. Treatment may include G-CSF, immunoglobulin replacement, prophylactic antibiotics, wart destruction, and stem cell transplant. A potential new treatment is plerixafor, which is a competitive antagonist of CXCR4. Its effectiveness and safety compared to G-CSF has not been established. Despite multiple treatment options, there is no standardized treatment. Early diagnosis and standardized therapy may help with preventing disease progression.

• 

  Evaluating Patients With Recurrent Fever and Elevated IgD

  Thao Le and Nikita Raje

  Introduction: Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) often presents within the first year of life. Symptoms include fevers, chills, headache, lymphadenopathy, and abdominal pain. Patients may be misdiagnosed as other autoinflammatory syndromes, resulting in delay of treatment. Case: A 16-year-old female presented for evaluation of recurrent fever. Her fevers started at two months of age, occurred one to two times a month, and were associated with headache, abdominal pain, and fatigue . At 18-months, she was diagnosed with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA). She was treated with prednisone and an adenotonsillectomy but her fevers persisted. . At 10-years of age, she had an immunoglobulin (Ig) D level of 936 mg/dL, normal lymphocyte subsets, tetanus, and diphtheria titers. Repeat IgD was 56 mg/dL, but other immunoglobulins were normal. Pneumococcal titers were suboptimal but showed an adequate response after administration of pneumococcal booster vaccine. She was started on cimetidine 600mg twice a day, with reduced frequency in her fevers. A repeat IgD was 52mg/dL. Genetic testing showed two pathogenic variants of mevalonate kinase (MVK), confirming the diagnosis of HIDS. She was prescribed interleukin-1 (IL-1) inhibitor therapy. Discussion: HIDS is diagnosed by an elevated IgD greater than 100 IU/mL or 14.1mg/dL on two occasions at least a month apart. However, IgD can be elevated in other autoinflammatory syndromes. Genetic testing for mutations in MVK or an elevated urinary mevalonic acid can further confirm diagnosis. This may allow for earlier diagnosis and initiation of treatment with IL-1 inhibitors.

• 

  Increasing annual eye exam completion for children with cystic fibrosis receiving CFTR modulators

  Paula Capel, Claire Elson, Stephanie Duehlmeyer, Jessica Haynes, Amanda Conway, and Christopher M. Oermann

  Background: CFTR modulators are life-changing therapy for people with CF. During preclinical studies of ivacaftor, cataracts were identified in juvenile rat pups. Subsequently, noncongenital cataracts have been reported in children receiving CFTR modulator therapy [1], so baseline and annual slit lamp eye examinations for cataract development are recommended for children with CF (aged <18). At Children’s Mercy Kansas City (CMKC), our standard practice is to conduct baseline and annual ophthalmologic examinations to assess for cataracts in children with CF prescribed CFTR modulator therapy, but there was no formal process for tracking adherence to this standard and ensuring that examinations were completed. A quality improvement project was undertaken in May 2022 to determine the rate of completion of annual eye exams and increase adherence to our annual monitoring standard.

  Methods: To improve adherence to annual monitoring standards, a quality improvement taskforce including CF care team nurses and pharmacists was developed. A database was used to document baseline and follow-up eye examinations. A standardized communication process was developed and deployed that included an eye exam brochure (Figure 1), messaging to caregivers and patients through the electronic medical record (EMR), and reminders on clinic departure or discharge paperwork. Additionally, children with CF who required eye examinations were identified during preclinic huddles, and that information was communicated to the CF care team. To improve tracking of completed eye exam reports, standardized notation of the searchable term “eye exam” was included in EMR documentation.

  Results: At CMKC, at least one eye examination was documented for 116 (72.5%) of 160 children with CF prescribed CFTR modulator therapy before implementation of the quality improvement project; after implementation, eye examinations were documented for 129 (81%). 64 (40%) children with CF at CMKC had eye exams completed in the year before project implementation. After project implementation, 72 (45%) PwCF had an eye exam completed per monitoring recommendations.

  Conclusions: Using quality improvement methodology, the CMKC CF care team developed a tracking tool and standardized process for communicating annual eye examination education in children with CF prescribed CFTR modulators. An increase in the rate of annual eye exam completion of 5% was observed after implementation of the process. With continued education and awareness, we anticipate higher rates of annual eye examination completion.

• 

  Investigating the Association between Mast Cell Activation Syndrome and Irritable Bowel Syndrome

  Ishaan Jakhar, Maggie Urschler, Medha Singh, Suman Sahil, and Hassan Ahmad

  Investigating the Association between Mast Cell Activation Syndrome and Irritable Bowel Syndrome Introduction Mast Cell Activation Syndrome (MCAS) involves the inappropriate release of chemical mediators resulting in varied episodic symptoms. Irritable Bowel Syndrome (IBS) is a common functional abdominal disorder where mucosal immune alterations play a key role. Since mast cells function as gatekeepers for the intestinal interface, we examined what proportion of patients diagnosed with MCAS also had IBS along with comorbid risk factors. Methods All patients in our study were 18 years of age or older. We used Cerner Healthfacts to gather our cohorts of patients with MCAS, IBS. We examined potential comorbid risk factors for MCAS using multivariable regression. Results We identified 2,508 patients with MCAS, mean age of48.7 ± 17.7 years with 67.7% (1,698) being female. 79.9% (2,003) were Caucasian, 8.3% (209) were African American. 11.5% (288/2,508) of patients with MCAS had IBS as well. The most common comorbid autoimmune disorder (AiD) was autoimmune thyroid disease (220). On multivariable regression, the factors associated with a higher risk of IBS in those with MCAS included cholestatic liver disease (OR 9.95), depression (OR 2.03), anxiety (OR 1.73), female gender (OR 1.64), autoimmune disorders (OR 1.63), and asthma (OR 1.56). Conclusions MCAS and IBS have symptom overlap with diarrhea and abdominal cramping. 11.48% of MCAS patients had IBS, indicating it may be worthwhile to inquire about bowel habits. Clinicians should also consider autoimmune thyroid disease in MCAS patients. There may be merit in exploring IBS therapies for MCAS patients.

• 

  Privacy preserving self-service DeGAUSS Based Geomarker Portal

  Harpreet Gill, Kushal Vallambhatla, Mark A. Hoffman, Kevin Power, and Catherine Jackson

  DeGAUSS offers a privacy-preserving capability to annotate a list of addresses with geomarker information that is useful for social determinants and other research. The standard delivery of DeGAUSS requires command line proficiency, potentially limiting the group of users. We provide a self-service portal that enables researchers to load a file and receive a downloadable annotated output file. In our pilot phase, the system has processed 481 calls for more than 45,000 addresses at Children’s Mercy.