Medicine and Health Sciences Commons^™

Functional Analysis Of Pathogenic Variants In Lamb1-Related Leukoencephalopathy Reveals Genotype-Phenotype Correlations And Suggests Its Role In Glial Cells, Rei Yasuda, Hirokazu Hashimoto, Mikiko Oka, Jung-Wan Mok, Marium Waqar, Brigitte Dauwalder, Oguz Kanca, Toshiki Mizuno, Shinya Yamamoto

Faculty, Staff and Students Publications

Laminin B1 (LAMB1) is one of the extracellular matrix (ECM) proteins that make up the basement membrane. Early frameshift, late frameshift, and missense variants in LAMB1 have been reported to cause rare monogenic neurological disorders that are collectively known as LAMB1-related leukoencephalopathy. Although there is some genotype-phenotype correlation, functional consequences of pathogenic LAMB1 variants are largely unknown. In this study, we aimed to elucidate function of the fly ortholog of this gene (LanB1) in the nervous system and to further study the functional consequences of the LAMB1 variants using Drosophila melanogaster. We found that the LanB1 gene is expressed on …

Social Determinants Of Health Extraction From Clinical Notes Across Institutions Using Large Language Models, Vipina K Keloth, Salih Selek, Qingyu Chen, Christopher Gilman, Sunyang Fu, Yifang Dang, Xinghan Chen, Xinyue Hu, Yujia Zhou, Huan He, Jungwei W Fan, Karen Wang, Cynthia Brandt, Cui Tao, Hongfang Liu, Hua Xu

Faculty, Staff and Student Publications

Detailed social determinants of health (SDoH) is often buried within clinical text in EHRs. Most current NLP efforts for SDoH have limitations, investigating limited factors, deriving data from a single institution, using specific patient cohorts/note types, with reduced focus on generalizability. We aim to address these issues by creating cross-institutional corpora and developing and evaluating the generalizability of classification models, including large language models (LLMs), for detecting SDoH factors using data from four institutions. Clinical notes were annotated with 21 SDoH factors at two levels: level 1 (SDoH factors only) and level 2 (SDoH factors and associated values). Compared to …

E-Cigarette Or Vaping Product Use-Associated Lung Injury: A Comprehensive Review, Mohammad Asim Amjad, Daniel Ocazionez Trujillo, Rosa M Estrada-Y-Martin, Sujith V Cherian

Faculty, Staff and Student Publications

E-cigarette or vaping product use-associated lung injury (EVALI) is a critical and potentially fatal form of lung injury that gained considerable public health concern in 2019. The use of e-cigarettes and vaping products is causally associated with EVALI, a condition characterized by a constellation of respiratory symptoms, such as coughing, shortness of breath, and chest pain. This comprehensive narrative literature review explores the complexities of EVALI, including its association with the structure and composition of e-cigarettes and its epidemiology, pathogenesis, clinical and radiological manifestations, management strategies, and public health implications. Moreover, it uncovers the long-term repercussions of EVALI and underscores …

Prevalence, Factors And Impact Of Migraine On Healthcare Professionals: A Cross-Sectional Study In The United Arab Emirates, Syyeda Maleha Jeelani, Shatha Al Sharbatti

Sultan Qaboos University Medical Journal

Objectives: This study aimed to determine the prevalence of migraines among healthcare professionals (HCPs) in the United Arab Emirates (UAE), identify associated factors and evaluate their impact on quality of life (QoL) and work performance. Methods: This cross-sectional study was conducted from January to June 2022 and included nurses and doctors across 4 healthcare settings in the UAE. Migraine prevalence was assessed using the Migraine Screen Questionnaire, while its impact on social support and work function was evaluated through the Migraine Disability Assessment, the Oslo Social Support Scale and the Headache Impact Test. Data were analysed using Chi-square tests, binary …

Evidence-Based Human Clinical Trials On Antidiabetic Herbal 6 Remedies Commonly Used In The Middle East, Shihab Al-Makhmari, Abir Al-Aufi, Saleh Al-Kindi, Maha Al Riyami, Hussein Sakr, Mohamed-Rachid Boulassel, Khalid M Abu Khadra, Rahma Al-Haddabi, Ammar Boudaka, Jumana Saleh

Sultan Qaboos University Medical Journal

Type 2 diabetes mellitus (T2DM) is a prevalent metabolic disorder with significant health and economic impacts. This review examined Middle Eastern herbs as alternative T2DM treatments in human randomised controlled trials and meta-analyses. A comprehensive PubMed search was conducted for human randomised controlled trials and meta-analyses on black seed (Nigella sativa), fenugreek (Trigonella foenum-graecum), ginger (Zingiber officinale), cinnamon (Cinnamomum cassia) and curcumin (Curcuma longa), with at least 6 human studies per herb. The results revealed that N. sativa and fenugreek improved glycaemic control and lipid profiles, while ginger regulated carbohydrate …

Pneumocephalus After Mediastinal Surgery, Mohamed Bhairis, Massine El Hammoumi, El Hassane Kabiri

Sultan Qaboos University Medical Journal

No abstract provided.

Erythema Multiforme Triggered By: Trichophyton Mentagrophytes An Unusual Association, María Zulaika-Lloret, Álvaro Prados-Carmona, Mar Rodríguez-Troncoso, Ricardo Ruiz-Villaverde

Sultan Qaboos University Medical Journal

No abstract provided.

Neoadjuvant With Low-Dose Radiotherapy, Tislelizumab, Albumin-Bound Paclitaxel, And Cisplatin For Resectable Locally Advanced Head And Neck Squamous Cell Carcinoma: Phase Ii Single-Arm Trial, Zhigang Liu, Dong Wang, Guanjun Li, Muhua Yi, Zhaoyuan Zhang, Guihua Zhong, Liangfu Xu, Rong Jiang, Yannan Zheng, Linxuan Huang, Yingpeng Peng, Lizhong Liang, Jianpeng Li, Ye Liu, Jun Lai, Xianjuan Lv, Yongqiang Xu, Qiaodan Liu, Zhiqiang Wang, Zhutian Liu, Qinan Yang, Li Nie, Jiao Lei, Xiaotao Huang, Zhijie Liu, Wen Jiang

Faculty, Staff and Student Publications

Although pathological complete response (pCR) and major pathological response (MPR) rates of neoadjuvant immunotherapy combined with chemotherapy in head and neck squamous cell carcinoma (HNSCC) trials remain suboptimal, emerging evidence highlights the synergistic potential of combining low-dose radiotherapy with immunotherapy to promote the efficacy of immunotherapy. This phase II, open-label, single-arm, multicenter trial (NCT05343325) enrolled 28 patients with untreated stage III-IVB HNSCC (NeoRTPC02). Patients received neoadjuvant low-dose radiotherapy, the programmed death-1 (PD-1) inhibitor tislelizumab, albumin-bound paclitaxel, and cisplatin for two cycles, followed by radical resection ~4 weeks after treatment completion. The primary endpoint, pCR rate, was achieved in 14 of …

Ivig Administration: Lessons From Cross-Institutional Protocol Review., Michelle L Payne, Keaton S Smetana, Casey C May

Pharmacy Articles

No abstract provided.

Detection Of Chromosomal Mosaicism- The Importance Of Karyotyping And Fish, Allison Kalinousky, Jennifer L. Roberts, Madeeha Alikhan, John Herriges, Lei Zhang, Elena Repnikova

Research Days

This project evaluates the prevalence of chromosomal mosaicism in constitutional samples using conventional cytogenetic techniques evaluated at Children's Mercy Hospital during a 20-year period.

Effects Of Genetic Polymorphisms On The Oct1 And Oct2-Mediated Uptake Of Atenolol, Mollie Margaret Walton Md, Jonathan Wagner Do, Ceclia E. Villanueva Phd, Bruno Hagenbuch Phd

Research Days

This project characterizes the role of OCT1 and OCT2 on cellular uptake of atenolol and tests the hypothesis that OCT1 and OCT2 proteins with genetic polymorphisms, when expressed in vitro, will result in altered cellular uptake of atenolol relative to the reference genotype. This approach utilizes transiently transfected OCT1 and OCT2 cell assays to perform time-dependent atenolol uptake experiments to generate kinetics information. The goal is to provide a better understanding of polymorphisms associated with OCT1 and OCT2 expression and function as a means to individualize pharmacologic therapy for atenolol.

Exploring Anticoagulation Trends As Early Infection Markers In Pediatric Ecmo And Crrt Patients, Samantha Davidson, Jay Rilinger, Jenna Miller, Caroline Holton, Joshua Herigon, Brian Lee

Research Days

This retrospective cohort study at a tertiary pediatric hospital included ICU patients who developed infections after 72 hours on extracorporeal support from 2017-2023. We assessed whether the number of anticoagulation dose changes are linked to acquired infections.

Diagnostic And Clinical Utility Of Oncoscan Microarray And Ngs-Based Sequencing In Pediatric Solid Tumors: Children’S Mercy Hospital’S Experience, Aravindh Nagarajan, Lisa Lansdon, Midhat Farooqi, Lei Zhang, Elena Repnikova

Research Days

This papers attempts to evaluate the diagnostic and clinical utility of microarray-based OS+ in detecting clinically relevant genetic alterations in FFPE solid tumor samples and to compare the yield of somatic mutation detection by WGS/WES in pediatric solid tumors at Children’s Mercy Hospital - Kansas City.

A Novel Surgical Technique For The Management Of Recurrent Thyroglossal Duct Cysts Using Dakins Solution Packing, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Elie Khalifee

Research Days

Background: Thyroglossal duct cyst (TGDC) is the most common congenital midline neck anomaly occurring in 7% of the population more commonly in infants or adolescents with no predilection to sex. [1] This anomaly consists of epithelial remnants due to failure of obliteration of the thyroglossal duct, a structure that forms as the thyroid gland originates at the foramen cecum of the tongue and is displaced caudally, anterior to or through the hyoid bone, towards its final position in the lower neck. Successful surgical management of TGDCs requires complete removal of the cyst and the duct. Initial surgery for these lesions …

Decreasing Time To Antibiotics In Febrile Oncology Patients With Central Line In The Pediatric Emergency Department; A Quality Improvement Initiative, Abbigayle Carlson, Leslie Hueschen, Stephanie Clark, Christopher Kaberline, Joel Thompson

Research Days

Background: Oncology patients are at a high risk for sepsis, due to chemotherapy-induced immunosuppression and neutropenia as well as presence of a central venous catheter. Due to the high risk of sepsis, these patients require antibiotics within 60 minutes of Emergency Department (ED) arrival. During our baseline period, Sept 2022-May 2023, we only achieved this 38% of the time at Children’s Mercy ED.

Aim: By April 30th, 2024, we will increase the percentage of ED febrile oncology patients receiving antibiotics < 60 min of arrival from 36.6% to 80%, stratifying by race and ethnicity, to monitor for inequities.

Methods: Our outcome measures were the percentage of ED febrile oncology patients with antibiotics given < 60 min of arrival and the median time to antibiotic administration. Our process measures were the percentage of standard order-set usage and percentage of patients with critical information notes. Our balance measure was time from arrival to ED triage. We created a process map and fishbone diagram and identified several delays in antibiotics administration. We performed interventions with Plan-Do-Study-Act methodology. First, we implemented standing nursing orders to decrease the time spent waiting for a provider to order antibiotics (June 2024). Next, the outpatient oncology providers created a Critical Information Note, which directed prompt antibiotic administration prior to labs or consultation (August 2024). To engage physicians, we made this a Maintenance of Certification (MOC) project, with monthly review of run charts (Oct 2024). Next, we prioritized timely access of the patients’ central line, with a nursing script to communicate with families the importance of accessing their child’s central line as soon as possible (Oct 2024). We created a Central Line Note, identifying the type of central line and needle size required to access the line (March 2024).

Results: With the implementation of …

Examining Learner Preferences Of Teaching Techniques By Phm Attendings And Fellows On Multilevel Teaching Rounds, Sian Best, Jacqueline M. Walker

Research Days

This study describes the teaching techniques used on morning rounds by pediatric hospital medicine faculty and fellows at an academic institution, and describes reported effectiveness by learners of the various teaching strategies.

Switching Lanes: Leaving Behind Discharge Antibiotics And Laboratory Testing In Perforated Appendicitis, Seth Saylors, Cory Nonnemacher, Meredith Elman, Pablo Aguayo, Richard Hendrickson, David Juang, Irene Isabel P. Lim, Rebecca Rentea, Charles Snyder, Shawn St. Peter, Tolulope Oyetunji

Research Days

Purpose: Appendicitis is the most common surgical emergency in children with approximately 30% of patients presenting with perforation, defined as a hole in the appendix or a fecalith found in the abdomen, at time of surgery. Our previous protocol at time of discharge, with an 11% intraabdominal abscess (IAA) rate, included checking a white blood cell count (WBC) on day of discharge, with a value ≥10 serving as a trigger for additional outpatient oral antibiotics course. Beginning in May, 2023 we changed our protocol to no longer obtain WBC or prescribe outpatient antibiotics at time of discharge. The purpose of …

Time From Triage To Imaging In Stroke Activations At Children’S Mercy Hospital, Annie Altschul, Marcie Files, Jennifer Flint, Brooke Fridley Phd

Research Days

Background: Stroke affects 2-3 per 100,000 children annually. Timely diagnosis is vital to provide the highest quality care to pediatric stroke patients. Features that contribute to delays in diagnosis of pediatric stroke include complex or subtle signs and symptoms, limited exams in young children, broad differential and frequent stroke mimics, low awareness in the community, and sedating or paralytic medication use in critically ill children. The establishment of stroke activation protocols for children has led to improvements in care for pediatric stroke across numerous centers, expediting time to imaging and treatment.

Objective: We aimed to quantify the time …

But, It's Just A Uti, Gillian Long

Research Days

A case report of a 12 year old female presenting to the emergency room with rash, hematuria and shortness of breath, ultimately found to have a life changing diagnosis.

Variability In Methotrexate Metabolites In A Cohort Of Jia Patients, Nuria Lara Castillo, Mara Becker, Marc Sudman, Susan Thompson, Laura Ramsey

Research Days

Background: Methotrexate (MTX) is the cornerstone disease-modifying anti-rheumatic drug for the treatment of Juvenile Idiopathic Arthritis (JIA). While most patients receiving MTX have a favorable outcome, approximately 30% do not respond, and several experience toxic events, suggesting interindividual difference. Furthermore, evaluation of MTX response takes several months, with the risk of missing the early “window of opportunity” for treatment. Predicting MTX response prior to administration would greatly benefit these patients and their treating physicians by saving valuable time during the early stages of the disease onset. MTX is a folate antagonist and, similar to folate, it undergoes polyglutamation inside the …

What Happens After They Leave The Ed? Following Up Acute Asthma Exacerbations After Changes In Clinical Practice Guidelines For Treatment, Phillip S. Wozniak, Jade B. Tam-Williams

Research Days

In 2022, Children’s Mercy Hospital (CMH) implemented a new clinical practice guideline (CPG) recommending single-dose dexamethasone as the first line oral steroid for treatment of mild to moderate acute asthma exacerbations. We assessed the impact of this CPG change on readmission rates after discharge from emergency department/urgent care (ED/UC). We hypothesized that single-dose dexamethasone would be non-inferior to a 5-day course of prednisone/prednisolone with respect to 7-day and 30-day acute care readmission rates and need for additional outpatient steroid courses.

Bilateral Buccal Myomucosal Flap Palatoplasty For The Management Of Velopharyngeal Dysfunction In Children, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Jill M. Arganbright

Research Days

Background: The use of bilateral myomucosal buccal flap palatoplasty (BMBFP) for velopharyngeal insufficiency (VPI) has increased in popularity. Despite the increasing popularity, there is a paucity in research examining their outcomes, especially in reference to the pediatric population.

Objectives/Goal: The objective of this paper was to investigate the utility of BMBFP for the correction of VPI in children.

Methods/Design: Retrospective chart review was performed using CPT codes to locate patients with BMBFP performed at our pediatric institution between July 2020 to July 2024. Data collected included demographics, associated syndromes, complications, pre-operative and post-operative resonance outcomes, and the need for revision …

Posterior Pharyngeal Flap For The Management Of Velopharyngeal Dysfunction: Comparing Outcomes For Children With 22q11.2 Deletion Syndrome To Those Without, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Jill M. Arganbright

Research Days

Introduction (including objectives): Velopharyngeal dysfunction (VPD) is one of the most common clinical features of 22q11.2 deletion syndrome (22q11.2DS) and often requires surgical intervention; due to the multifactorial nature of VPD, these patients present unique and often complex surgical challenges. Prior studies have generally demonstrated poorer speech outcomes postoperatively in children with 22q11.2DS. The posterior pharyngeal flap (PPF) is often considered first-line surgical choice for correction of VPD in children with 22q11.2DS. The aim of this study is to compare PPF outcomes for children with 22q11.2DS to those without.

Methods: Retrospective review for pediatric patients diagnosed with VPI who underwent …

Viral Detection In Anterior Nasal Swabs Versus Nasopharyngeal Swabs In Children, Nicole Neeley, Abby Kietzman, Rangaraj Selvarangan, Dithi Banerjee, Jennifer Goldman, Jennifer Schuster

Research Days

Background: Respiratory viruses are a significant cause of pediatric illness and healthcare utilization. Diagnostic testing for respiratory viruses is generally performed using nasopharyngeal (NP) specimens obtained by trained staff, limiting testing to medical settings. Evaluating additional sampling methods in children that are easier to collect and can be performed outside of medical settings, such as anterior nasal swab (NS) specimens may expand access to diagnostic testing and aid public health surveillance.

Methods: Eligible children hospitalized at Children’s Mercy Hospital who had a standard of care NP specimen collected for respiratory viral testing were enrolled. Research NS specimens were obtained through …

Agenda (Pdf), Department Of Obstetrics & Gynecology

Dept. of Obstetrics & Gynecology Resident Research Day

No abstract provided.

Shifting To A Culture Of Inclusion By Design: Applying A Mixed-Methods Approach To Advance Accessibility Of Public Health Emergency Information & Communication Technology, Jessica L. Franks, Erin Vinoski Thomas

Developmental Disabilities Network Journal

Adults with intellectual and developmental disabilities (IDD) experience inequities in access to timely, accurate, and understandable information and communication technology (ICT), which increases risk for public health emergency (PHE)-related health disparities and impedes opportunities to achieve optimal health. This study assessed federal COVID-19 webpage accessibility levels and explored existing knowledge of and experience with filing accessibility complaints for federal ICT among adults with IDD. Through a mixed-methods approach, we evaluated compliance with accessibility standards for 18 federal agencies’ COVID-19 webpages (study 1) and interviewed 16 adults with IDD about experiences accessing federal webpages and filing accessibility complaints (study 2). We …

Heart Failure And The Need For Better Patient Education, Amber Ball

Doctor of Nursing Practice Scholarly Project

Heart failure is becoming a more prevalent condition, evidenced by the fact that 25% of patients who are diagnosed with heart failure are readmitted within 30 days of being discharged due to exacerbation of this disease process. Heart failure symptoms can worsen due to inadequate patient education and other issues with patient self-management of the disease process leading to readmissions and increased hospital stays—adding to an already burdened healthcare system.

The aim of this project was to address the gap in nurse led patient education early on during hospitalization of patients admitted with a new diagnosis of heart failure or …

The Influence Of Perioperative Education On Postoperative Digestive Restoration, Christian Cedeno

Doctor of Nursing Practice Scholarly Project

The human body often needs encouragement to return to its natural state of functioning following intraoperative and postoperative drug therapy. Anesthesia can sedate the gastrointestinal tract and frequently requires medical and physical interventions to allow the body to return to full functionality. There are several methods thought to be beneficial in overcoming of this condition, and some have proven their significance more so than other methods. This project seeks to measure the power-of-knowledge methodology via a chart review of individuals specifically educated on what they can expect in the postoperative phase of care compared to those that receive routine education. …

Enhancing Care For Psychiatric Patients Boarding In The Emergency Department, Abby Ford

Doctor of Nursing Practice Scholarly Project

Psychiatric boarding in the emergency department has become a common phenomenon in emergency departments throughout the United States. The purpose of this DNP Scholarly Project was to create a quality improvement project to enhance the care that psychiatric patients receive while they are boarding in the emergency department (ED). This quality improvement project consisted of an educational PowerPoint module for ED nursing staff and the dissemination of a care plan that nursing staff utilized while caring for psychiatric patients in this specific ED. The target population for this scholarly project was emergency department nursing personnel in a 40-bed metropolitan ED. …

Enhancing Outpatient Referrals To Heart Failure Clinics, Charla Furing

Doctor of Nursing Practice Scholarly Project

Heart failure patients require complex and specialized treatment that can be provided for in a heart failure clinic. Heart failure is extremely complex and the recommendations for management require observation and diligence. Lindberg et al. (2022), recommends patients with heart failure receive specialized care from providers trained in optimizing therapy, especially patients with new onset heart failure, worsening heart failure, or those unable to tolerate first-line treatments in optimal doses. Patients require referrals to the providers specializing in heart failure management. This study created a comprehensive outpatient referral form for outpatient providers utilizing published heart failure referral forms, heart failure …