Medicine and Health Sciences Commons^™

Harmonization Of Multi-Center Diffusion Tensor Tractography In Neonates With Congenital Heart Disease: Optimizing Post-Processing And Application Of Combat, Benjamin Meyers, Vincent K Lee, Lauren Dennis, Julia Wallace, Vanessa Schmithorst, Jodie K Votava-Smith, Vidya Rajagopalan, Elizabeth Herrup, Tracy Baust, Nhu N Tran, Jill Hunter, Daniel J Licht, J William Gaynor, Dean B Andropoulos, Ashok Panigrahy, Rafael Ceschin

Faculty, Staff and Students Publications

Advanced brain imaging of neonatal macrostructure and microstructure, which has prognosticating importance, is more frequently being incorporated into multi-center trials of neonatal neuroprotection. Multicenter neuroimaging studies, designed to overcome small sample sized clinical cohorts, are essential but lead to increased technical variability. Few harmonization techniques have been developed for neonatal brain microstructural (diffusion tensor) analysis. The work presented here aims to remedy two common problems that exist with the current state of the art approaches: 1) variance in scanner and protocol in data collection can limit the researcher's ability to harmonize data acquired under different conditions or using different clinical …

Dietary Fat Composition Shapes Bile Acid Metabolism And Severity Of Liver Injury In A Pig Model Of Pediatric Nafld, Rodrigo Manjarín, Kayla Dillard, Morgan Coffin, Gabriella V Hernandez, Victoria A Smith, Trista Noland-Lidell, Tanvi R Gehani, Hayden J Smart, Kevin Wheeler, Kimberly A Sprayberry, Mark S Edwards, Rob K Fanter, Hunter Glanz, Chad Immoos, Tasha M Santiago-Rodriguez, Jason M Blank, Douglas G Burrin, Brian D Piccolo, Mohammed Abo-Ismail, Michael R La Frano, Magdalena Maj

Faculty, Staff and Students Publications

The objective of this study was to investigate the effect of dietary fatty acid (FA) composition on bile acid (BA) metabolism in a pig model of NAFLD, by using a multiomics approach combined with histology and serum biochemistry. Thirty 20-day-old Iberian pigs pair-housed in pens were randomly assigned to receive 1 of 3 hypercaloric diets for 10 wk: 1) lard-enriched (LAR; n = 5 pens), 2) olive oil-enriched (OLI; n = 5), and 3) coconut oil-enriched (COC; n = 5). Animals were euthanized on week 10 after blood sampling, and liver, colon, and distal ileum (DI) were …

Delayed Large Local Reactions To Moderna Covid-19 Vaccine: A Follow-Up Report After Booster Vaccination, Kimberly G Blumenthal, Catherine Ahola, Sara Anvari, Upeka Samarakoon, Esther E Freeman

Faculty, Staff and Students Publications

No abstract provided.

Quality Of Life, Illness Perceptions, And Parental Lived Experiences In Tango2-Related Metabolic Encephalopathy And Arrhythmias, Chaya N Murali, Seema R Lalani, Mahshid S Azamian, Christina Y Miyake, Hadley Stevens Smith

Faculty, Staff and Students Publications

TANGO2 disorder is a rare genetic disease with multi-system effects that causes episodic crises. Quality of life and psychosocial effects of this rare disease have not previously been studied. To examine health-related quality of life (HRQoL), illness perceptions, and lived experience, we surveyed 16 children and 31 parents of children with TANGO2 disorder identified via a disease-specific social media group and research foundation email distribution list. We assessed HRQoL by parent proxy-report and child self-report using the Pediatric Quality of Life Inventory (PedsQL™). Parental perceptions of their child's condition were assessed using the revised illness perceptions questionnaire adapted for TANGO2 …

Precision Diabetes: Lessons Learned From Maturity-Onset Diabetes Of The Young (Mody), Mustafa Tosur, Louis H Philipson

Faculty, Staff and Students Publications

Maturity-onset of diabetes of the young (MODY) are monogenic forms of diabetes characterized by early onset diabetes with autosomal dominant inheritance. Since its first description about six decades ago, there have been significant advancements in our understanding of MODY from clinical presentations to molecular diagnostics and therapeutic responses. The prevalence of MODY is estimated as at least 1.1-6.5% of the pediatric diabetes population with a high degree of geographic variability that might arise from several factors in the criteria used to ascertain cases. GCK-MODY, HNF1A-MODY, and HNF4A-MODY account for >90% of MODY cases. While some MODY forms do not require …

Are Women With Disabilities Less Likely To Utilize Essential Maternal And Reproductive Health Services?-A Secondary Analysis Of Pakistan Demographic Health Survey, Shafaq Mahmood, Waqas Hameed, Sameen Siddiqi

Community Health Sciences

Background: People with disabilities deal with widespread exclusion from healthcare services, including sexual and reproductive health (SRH) rights. Studies analyzing the relationship between disability and key SRH utilization outcomes have often reported mixed findings. In Pakistan, very little to no literature is available on this topic, therefore we aim to determine inequalities in the utilization of essential maternal and reproductive health services between women with and without disabilities in Pakistan.
Methods: This was a secondary analysis of Pakistan Demographic Health Survey 2017-18 performed on a weighted sample of 6,711 women aged 15-49 years with a live birth in the 5 …

Chap-Child: An Open Source Method For Estimating Sit-To-Stand Transitions And Sedentary Bout Patterns From Hip Accelerometers Among Children., Jordan A. Carlson, Nicola D. Ridgers, Supun Nakandala, Rong Zablocki, Fatima Tuz-Zahra, John Bellettiere, Paul R Hibbing, Chelsea Steel, Marta M. Jankowska, Dori E. Rosenberg, Mikael Anne Greenwood-Hickman, Jingjing Zou, Andrea Z. Lacroix, Arun Kumar, Loki Natarajan

Manuscripts, Articles, Book Chapters and Other Papers

Background: Hip-worn accelerometer cut-points have poor validity for assessing children's sedentary time, which may partly explain the equivocal health associations shown in prior research. Improved processing/classification methods for these monitors would enrich the evidence base and inform the development of more effective public health guidelines. The present study aimed to develop and evaluate a novel computational method (CHAP-child) for classifying sedentary time from hip-worn accelerometer data.

Methods: Participants were 278, 8-11-year-olds recruited from nine primary schools in Melbourne, Australia with differing socioeconomic status. Participants concurrently wore a thigh-worn activPAL (ground truth) and hip-worn ActiGraph (test measure) during up to 4 …

Location-Specific Psychosocial And Environmental Correlates Of Physical Activity And Sedentary Time In Young Adolescents: Preliminary Evidence For Location-Specific Approaches From A Cross-Sectional Observational Study., Adrian Ortega, Carolina M Bejarano, Christopher C Cushing, Vincent S. Staggs, Amy Papa, Chelsea Steel, Robin P. Shook, Terry L. Conway, Brian E. Saelens, Karen Glanz, Kelli L. Cain, Lawrence D. Frank, Jacqueline Kerr, Jasper Schipperijn, James F. Sallis, Jordan A. Carlson

Manuscripts, Articles, Book Chapters and Other Papers

Background: A better understanding of the extent to which psychosocial and environmental correlates of physical activity are specific to locations would inform intervention optimization.

Purpose: To investigate cross-sectional associations of location-general and location-specific variables with physical activity and sedentary time in three common locations adolescents spend time.

Methods: Adolescents (N = 472,Mage = 14.1,SD = 1.5) wore an accelerometer and global positioning systems (GPS) tracker and self-reported on psychosocial (e.g., self-efficacy) and environmental (e.g., equipment) factors relevant to physical activity and sedentary time. We categorized each survey item based on whether it was specific to a location to generate psychosocial …

Comparing Kidney Health Outcomes In Children, Adolescents, And Adults With Focal Segmental Glomerulosclerosis., Debbie S. Gipson, Jonathan P. Troost, Cathie Spino, Samara Attalla, Joshua Tarnoff, Susan Massengill, Richard Lafayette, Virginia Vega-Warner, Sharon Adler, Patrick Gipson, Matthew Elliott, Frederick Kaskel, Damian Fermin, Marva Moxey-Mims, Richard N. Fine, Elizabeth J. Brown, Kimberly Reidy, Katherine Tuttle, Keisha Gibson, Kevin V. Lemley, Larry A. Greenbaum, Meredith A. Atkinson, Sangeeta Hingorani, Tarak Srivastava, Christine B. Sethna, Kevin Meyers, Cheryl Tran, Katherine M. Dell, Chia-Shi Wang, Jennifer Lai Yee, Matthew G. Sampson, Rasheed Gbadegesin, J J Lin, Tammy Brady, Michelle Rheault, Howard Trachtman

Manuscripts, Articles, Book Chapters and Other Papers

Importance: Focal segmental glomerulosclerosis (FSGS) is a common cause of end-stage kidney disease (ESKD) across the lifespan. While 10% to 15% of children and 3% of adults who develop ESKD have FSGS, it remains uncertain whether the natural history differs in pediatric vs adult patients, and this uncertainty contributes to the exclusion of children and adolescents in clinical trials.

Objective: To examine whether there are differences in the kidney health outcomes among children, adolescents, and adults with FSGS.

Design, Setting, and Participants: This cohort study used pooled and parallel analyses, completed July 5, 2022, from 3 complimentary data sources: (1) …

Double-Inlet Left Ventricle, P Syamasundar Rao

Faculty, Staff and Student Publications

Double-inlet left ventricle (DILV) is most frequent among univentricular atrioventricular connections. In DILV, there is a single functioning ventricle, most commonly with left ventricular structure. This chamber receives both atrioventricular valves and is connected to an outlet chamber with morphologic features of the right ventricle. The great vessels are often transposed, and pulmonary stenosis is seen in two-thirds of patients. The anatomy and pathophysiology can be defined by echo-Doppler studies with a rare need for other imaging studies. The management is mostly related to the nature of associated heart defects and the degree of pathophysiological abnormality. When the infants present …

Practical Approaches To Improve Vancomycin-Related Patient Outcomes In Pediatrics- An Alternative Strategy When Auc/Mic Is Not Feasible, Kashif Hussain, Muhammad Sohail Salat, Shahzad Rauf, Manoj Rathi, Midhat Khan, Fizzah Naz, Wasif Ahmed Khan, Rahila Ikram, Gul Ambreen

Department of Biological & Biomedical Sciences

Background: Anecdotal experience and studies have shown that most pediatric patients fail to reach target therapeutic vancomycin trough levels (VTLs) and required higher total daily doses (TDD). This retrospective study aims to evaluate the frequency of hospitalized children who achieved target VTLs with a vancomycin (VNCO) dosing regimen of 40-60 mg/kg/d q6h and to assess the VNCO-TDD required to attain the target and their effects on clinical outcomes in pediatric patients.
Methods: After ethical approval, patients of 3 month-12 years were evaluated in this chart review study who received ≥ 3 intravenous-VNCO doses and appropriately drawn blood samples of VTLs …

Effectiveness And Adherence To Closed Face Shields In The Prevention Of Covid-19 Transmission: A Non-Inferiority Randomized Controlled Trial In A Middle-Income Setting (Covproshield), Andrea Ramirez Varela, Alejandro Pacheco Gurruchaga, Silvia Restrepo Restrepo, Juan David Martin, Yessica Daniela Campaz Landazabal, Guillermo Tamayo-Cabeza, Sandra Contreras-Arrieta, Yuldor Caballero-Díaz, Luis Jorge Hernandez Florez, John Mario González, Juan Carlos Santos-Barbosa, José David Pinzón, Juan José Yepes-Nuñez, Rachid Laajaj, Giancarlo Buitrago Gutierrez, Martha Vives Florez, Janner Fuentes Castillo, Gianni Quinche Vargas, Andres Casas, Antonio Medina, Eduardo Behrentz, Covida Working Group

Faculty, Staff and Student Publications

BACKGROUND: The use of respiratory devices can mitigate the spread of diseases such as COVID-19 in community settings. We aimed to determine the effectiveness of closed face shields with surgical face masks to prevent SARS-CoV-2 transmission in working adults during the COVID-19 pandemic in Bogotá, Colombia.

METHODS: An open-label non-inferiority randomized controlled trial that randomly assigned participants to one of two groups: the intervention group was instructed to wear closed face shields with surgical face masks, and the active control group was instructed to wear only surgical face masks. The primary outcome was a positive reverse transcription polymerase chain reaction …

Cmv And Ebv Co-Infection In Hiv-Infected Children: Infection Rates And Analysis Of Differential Expression Of Cytokines In Hiv Mono- And Hiv-Cmv-Ebv Co-Infected Groups, Fizza Nazim, Hammad Afzal Kayani, Aspara Ali Nathwani, Fatima Mir, Syed Hani Abidi

Department of Biological & Biomedical Sciences

Background: CMV and EBV co-infections can affect the HIV disease progression by modulating the immune system. The disease dynamics can differ in HIV-positive adults and children. In Pakistan, HIV is rapidly expanding, especially in children; however, the prevalence of CMV and EBV co-infection and the effect on immune modulation in HIV-positive children are not known. This study aimed to bridge this gap by estimating the rate of active CMV and EBV co-infection in HIV-positive children, followed by the analysis of differential expression of cytokines in HIV mono- and HIV/CMV/EBV co-infected children.
Methods: DNA samples from 319 HIV-positive children, previously recruited …

Barriers And Facilitators To Exclusive Breastfeeding In Rural Pakistan: A Qualitative Exploratory Study, Atif Riaz, Shelina Bhamani, Sheraz Ahmed, Fayyaz Umrani, Sadaf Jakhro, Abdul Khaliq Qureshi, Syed Asad Ali

Department of Paediatrics and Child Health

Background: Exclusive breastfeeding (EBF) of children until six months of age is considered one of the most critical interventions in tackling childhood undernutrition. EBF rates are suboptimal in Pakistan, particularly in rural areas where child undernutrition is most prevalent. This study aimed to explore barriers to EBF in a rural context of Pakistan.
Methods: The study was conducted in the rural district Matiari of Sindh, Pakistan, during Jan-March 2020. We used a qualitative exploratory study design and conducted 36 focus group discussions (FGDs). Participants were purposively selected mothers who had not practiced EBF during their previous childbirth, their spouses and …

A Case Series Of Children With Acute Hepatitis And Human Adenovirus Infection, L Helena Gutierrez Sanchez, Henry Shiau, Julia M Baker, Stephanie Saaybi, Markus Buchfellner, William Britt, Veronica Sanchez, Jennifer L Potter, L Amanda Ingram, David Kelly, Xiaoyan Lu, Stephanie Ayers-Millsap, Wesley G Willeford, Negar Rassaei, Julu Bhatnagar, Hannah Bullock, Sarah Reagan-Steiner, Ali Martin, Michael E Rogers, Anna M Banc-Husu, Sanjiv Harpavat, Daniel H Leung, Elizabeth A Moulton, Daryl M Lamson, Kirsten St George, Aron J Hall, Umesh Parashar, Adam Macneil, Jacqueline E Tate, Hannah L Kirking

Faculty, Staff and Students Publications

BACKGROUND: Human adenoviruses typically cause self-limited respiratory, gastrointestinal, and conjunctival infections in healthy children. In late 2021 and early 2022, several previously healthy children were identified with acute hepatitis and human adenovirus viremia.

METHODS: We used International Classification of Diseases, 10th Revision, codes to identify all children (<18 years of age) with hepatitis who were admitted to Children’s of Alabama hospital between October 1, 2021, and February 28, 2022; those with acute hepatitis who also tested positive for human adenovirus by whole-blood quantitative polymerase chain reaction (PCR) were included in our case series. Demographic, clinical, laboratory, and treatment data were obtained from medical records. Residual blood specimens were sent for diagnostic confirmation and human adenovirus typing.

RESULTS: A total of 15 children were identified with acute hepatitis - 6 (40%) who had hepatitis with an identified cause and 9 (60%) who had hepatitis without a known cause. Eight (89%) of the patients with hepatitis of unknown cause tested positive for human adenovirus. These 8 patients plus 1 …

Adiposity, Insulin Resistance, Cardiorespiratory Fitness, And Bone Health In Hispanic Children, Reem S Shawar, Maurice Puyau, Roman Shypailo, Salma Musaad, Nancy F Butte, Fida Bacha

Faculty, Staff and Students Publications

CONTEXT: Childhood obesity disproportionately affects Hispanic youth. The skeletal system appears to be a target organ of the adverse effects of obesity. Yet, the relationship between adiposity and bone health in youth and the modulating factors are not well understood.

OBJECTIVE: This work aims to examine the relationship between adiposity, insulin resistance (IR), cardiorespiratory fitness (CRF), and bone mass in Hispanic youth.

METHODS: A total of 951 Hispanic youth (50% male), aged 4 to 19 years, participated in this cross-sectional design study from the Viva La Familia Study at Children's Nutrition Research Center. Bone mineral content (BMC) and density (BMD), …

The Global Network Socioeconomic Status Index As A Predictor Of Stillbirths, Perinatal Mortality, And Neonatal Mortality In Rural Communities In Low And Lower Middle Income Country Sites Of The Global Network For Women's And Children's Health Research, Archana B. Patel, Carla M. Bann, Cherryl S. Kolhe, Adrien Lokangaka, Antoinette Tshefu, Melissa Bauserman, Lester Figueroa, Nancy F. Krebs, Fabian Esamai, Sarah Saleem

Community Health Sciences

Background: Globally, socioeconomic status (SES) is an important health determinant across a range of health conditions and diseases. However, measuring SES within low- and middle-income countries (LMICs) can be particularly challenging given the variation and diversity of LMIC populations.
Objective: The current study investigates whether maternal SES as assessed by the newly developed Global Network-SES Index is associated with pregnancy outcomes (stillbirths, perinatal mortality, and neonatal mortality) in six LMICs: Democratic Republic of the Congo, Guatemala, India, Kenya, Pakistan, and Zambia.
Methods: The analysis included data from 87,923 women enrolled in the Maternal and Newborn Health Registry of the NICHD-funded …

The Impact Of Therapeutic Neonatal Positioning In The Nicu, Amanda Blaise

2022 Southern California Nursing Research Conference

Also presented at the National Association of Neonatal Nurses (NANN) Conference in September 2023

Extracorporeal Membrane Oxygenation In The Care Of A Preterm Infant With Covid-19 Infection: Case Report, Jessica Patrick-Esteve, Christy Mumphrey, David Yu, Emily Masoumy, Jeremy Lawson, David Hebert, Brian Barkemeyer

School of Medicine Faculty Publications

Coronavirus disease 2019 (COVID-19) was first reported to the World Health Organization (WHO) in December 2019 and has since unleashed a global pandemic, with over 518 million cases as of May 10, 2022. Neonates represent a very small proportion of those patients. Among reported cases of neonates with symptomatic COVID-19 infection, the rates of hospitalization remain low. Most reported cases in infants and neonates are community acquired with mild symptoms, most commonly fever, rhinorrhea and cough. Very few require intensive care or invasive support for acute infection. We present a case of a 2-month-old former 26-week gestation infant with a …

Insights Into Microbiome And Metabolic Signatures Of Children Undergoing Peanut Oral Immunotherapy, Andrea C Blackman, Santosh Thapa, Alamelu Venkatachalam, Thomas D Horvath, Jessica K Runge, Sigmund J Haidacher, Kathleen M Hoch, Anthony M Haag, Ruth Ann Luna, Aikaterini Anagnostou

Faculty, Staff and Students Publications

BACKGROUND: Peanut oral immunotherapy has emerged as a novel, active management approach for peanut-allergic sufferers, but limited data exist currently on the role of the microbiome in successful desensitization.

OBJECTIVE: We examined the oral and gut microbiome in a cohort of 17 children undergoing peanut oral immunotherapy with the aim to identify the microbiome signatures associated with successful desensitization. We also set out to characterize their fecal metabolic profiles after successful therapy.

METHODS: Participants gradually built up their daily dose from 2 mg (starting dose) to 300 mg (maintenance dose) within approximately 40 weeks. We collected a buccal and stool …

Qualitative Interviews To Understand Health Care Providers’ Experiences Of Prescribing Licensed Peanut Oral Immunotherapy, Aikaterini Anagnostou, Claire Lawrence, Stephen A Tilles, Susan Laubach, Sarah M Donelson, Mohamed Yassine, Anna Nowak-Wegrzyn

Faculty, Staff and Students Publications

OBJECTIVE: This research sought to explore health care providers' (HCPs) experiences of delivering the first US Food and Drug Administration (FDA) and European Commission (EC) approved peanut oral immunotherapy (peanut OIT; Palforzia). Semi-structured qualitative interviews with HCPs who had initiated treatment with ≥ 3 patients in the first nine months following FDA approval sought to identify challenges faced and successful implementation strategies.

RESULTS: Eight allergists and three nurse practitioners from eight sites based in the United States participated. The HCPs included in this research were motivated to implement this novel treatment, however, entered the process with some reservations. HCPs described …

Quality Improvement: Piloting A Pediatric Obesity Prevention Screening Tool And Intervention In A Family Practice Setting., Erin Shaye Semeyn

Doctor of Nursing Practice Papers

Background: In the United States today, nearly one third of children fall into the category of overweight or obese. Because it is extremely difficult to treat childhood obesity once it occurs, prevention is the optimal approach to childhood overweight and obesity (Brown & Perrin, 2018; Cooper & Mandel, 2020). An ideal time to address obesity prevention health behaviors is during pediatric primary care visits. Since the COVID-19 pandemic began in the United States in 2019, visits to primary care offices, including visits to an urban university-based family practice clinic in Kentucky, dropped as some pediatric patients and their caregivers worried …

Croup: Predictors Of Admission For Patients With Croup, Children's Mercy Kansas City

Clinical Critically Appraised Topics

No abstract provided.

Prevalence And Factors Associated With Undernutrition Among Children With Congenital Heart Disease At Three Tertiary Hospitals In Nairobi, Kenya., Shamsa Yahya

Master of Medicine in Paediatrics and Child Health

Background: Congenital heart disease (CHD) is the commonest birth defect. Children with CHD have a high burden of undernutrition and its consequences. Some of the factors that are associated with undernutrition in children with CHD include the type and complexity of the heart defect, associated pulmonary hypertension, late diagnosis, timing of surgical correction, low socioeconomic status, lack of adequate nutritional support, associated genetic conditions and the presence of other clinical comorbidities. Justification: Although these factors are well defined, they vary geographically in their distribution and extent to which they influence the level of undernutrition. This limits the extrapolation of findings …

Social Contributors For The Rise Of Covid-19 Infections In South Asia: A Large Cross-Sectional Survey, Zouina Sarfraz, Azza Sarfraz, Muzna Sarfraz, Nishwa Azeem, Namrata Hange, Miguel Felix, Ivan Cherrez-Ojeda

Department of Paediatrics and Child Health

Background: The ongoing global coronavirus disease 2019 (COVID-19) pandemic, caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) was first reported in South Asia on 30th January 2020 in India. Ever since, certain countries have witnessed multiple waves of COVID-19, requiring attention by public health experts and strategists in the region. The objectives of this study are to assess social contributors to the recurrent waves of COVID-19 in South Asia including first demographic traits, second household characteristics and social measures, third workplace trends and personal protective equipment use, and fourth satisfaction and attitudes concerning public health measures and vaccination status. …

Ribonucleotide Reductase Subunit Switching In Hepatoblastoma Drug Response And Relapse, Anthony Brown

Theses and Dissertations (ETD)

Hepatoblastoma is the most common primary liver cancer in infants and young children. Despite being a very rare cancer that accounts for only 0.5-2% if all childhood cancer cases, HB has the largest increase in incidence among childhood cancers in the United States and worldwide. The five-year survival rate of children with the aggressive forms of HB, including those that have developed metastatic or recurrent diseases, is less than 40% due to the lack of effective treatment. We aim to identify targetable mechanisms underlying the progression and drug resistance of high-risk HB. Our recent work on HB mouse and organoid …

Association Of Acute Anti-Inflammatory Treatment With Medium-Term Outcomes For Coronary Artery Aneurysms In Kawasaki Disease., Kevin G. Friedman, Brian W. Mccrindle, Kyle Runeckles, Nagib Dahdah, Ashraf S. Harahsheh, Michael Khoury, Sean Lang, Cedric Manlhiot, Adriana H. Tremoulet, Geetha Raghuveer, Elif Seda Selamet Tierney, Pei-Ni Jone, Jennifer S. Li, Jacqueline R. Szmuszkovicz, Kambiz Norozi, Supriya S. Jain, Angela T. Yetman, Jane W. Newburger, International Kawasaki Disease Registry

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The impact of adjunctive anti-inflammatory treatment on outcomes for patients with Kawasaki disease (KD) and coronary artery aneurysms (CAAs) is unknown.

METHODS: Using data from the International KD Registry in patients with ≥ medium CAA we evaluate associations of treatment with outcomes and major adverse cardiac events (MACE).

RESULTS: Medium or large CAA was present in 527 (32%) patients. All were treated with intravenous immunoglobulin (IVIG), 70% were male, and the median age was 1.3 years (interquartile range: 0.4-4.0 years). The most common acute therapies included single IVIG alone in 243 (46%), multiple IVIG in 100 (19%), multiple IVIG …

Safety And Efficacy Of Voxelotor In Pediatric Patients With Sickle Cell Disease Aged 4 To 11 Years., Jeremie H. Estepp, Ram Kalpatthi, Gerald Woods, Sara Trompeter, Robert I. Liem, Kacie Sims, Adlette Inati, Baba P D Inusa, Andrew Campbell, Connie Piccone, Miguel R. Abboud, Kim Smith-Whitley, Sandra Dixon, Margaret Tonda, Carla Washington, Noelle M. Griffin, Clark Brown

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Sickle cell disease (SCD) is a devastating, multisystemic disorder that affects millions of people worldwide. The earliest clinical manifestations of SCD can affect infants as young as 6 months of age, and pediatric patients are at risk for acute and life-threatening complications. Early intervention with treatments that target the underlying pathophysiological mechanism of SCD, sickle hemoglobin (HbS) polymerization, are expected to slow disease progression and circumvent disease-associated morbidity and mortality.

PROCEDURE: The HOPE-KIDS 1 trial (NCT02850406) is an ongoing four-part, phase 2a, open-label, single- and multiple-dose study to evaluate the pharmacokinetics, efficacy, and safety of voxelotor-a first-in-class HbS polymerization …

Receptor Tyrosine Kinase (Rtk) Targeting In Pediatric High-Grade Glioma And Diffuse Midline Glioma: Pre-Clinical Models And Precision Medicine., Kallen Schwark, Dana Messinger, Jessica R. Cummings, Joshua Bradin, Abed Kawakibi, Clarissa M. Babila, Samantha Lyons, Sunjong Ji, Rodrigo T. Cartaxo, Seongbae Kong, Evan Cantor, Carl Koschmann, Viveka Nand Yadav

Manuscripts, Articles, Book Chapters and Other Papers

Pediatric high-grade glioma (pHGG), including both diffuse midline glioma (DMG) and non-midline tumors, continues to be one of the deadliest oncologic diagnoses (both henceforth referred to as "pHGG"). Targeted therapy options aimed at key oncogenic receptor tyrosine kinase (RTK) drivers using small-molecule RTK inhibitors has been extensively studied, but the absence of proper in vivo modeling that recapitulate pHGG biology has historically been a research challenge. Thankfully, there have been many recent advances in animal modeling, including Cre-inducible transgenic models, as well as intra-uterine electroporation (IUE) models, which closely recapitulate the salient features of human pHGG tumors. Over 20% of …

Twist1 Interacts With Β/Δ-Catenins During Neural Tube Development And Regulates Fate Transition In Cranial Neural Crest Cells, Jessica W Bertol, Shelby Johnston, Rabia Ahmed, Victoria K Xie, Kelsea M Hubka, Lissette Cruz, Larissa Nitschke, Marta Stetsiv, Jeremy P Goering, Paul Nistor, Sally Lowell, Hanne Hoskens, Peter Claes, Seth M Weinberg, Irfan Saadi, Mary C Farach-Carson, Walid D Fakhouri

Faculty, Staff and Student Publications

Cell fate determination is a necessary and tightly regulated process for producing different cell types and structures during development. Cranial neural crest cells (CNCCs) are unique to vertebrate embryos and emerge from the neural plate borders into multiple cell lineages that differentiate into bone, cartilage, neurons and glial cells. We have previously reported that Irf6 genetically interacts with Twist1 during CNCC-derived tissue formation. Here, we have investigated the mechanistic role of Twist1 and Irf6 at early stages of craniofacial development. Our data indicate that TWIST1 is expressed in endocytic vesicles at the apical surface and interacts with β/δ-catenins during neural …