Pediatrics Commons^™

Current State Of The Art In Hypoplastic Left Heart Syndrome, Aditya K Birla, Sunita Brimmer, Walker D Short, Oluyinka O Olutoye, Jason A Shar, Suriya Lalwani, Philippe Sucosky, Anitha Parthiban, Sundeep G Keswani, Christopher A Caldarone, Ravi K Birla

Faculty, Staff and Students Publications

Hypoplastic left heart syndrome (HLHS) is a complex congenital heart condition in which a neonate is born with an underdeveloped left ventricle and associated structures. Without palliative interventions, HLHS is fatal. Treatment typically includes medical management at the time of birth to maintain patency of the ductus arteriosus, followed by three palliative procedures: most commonly the Norwood procedure, bidirectional cavopulmonary shunt, and Fontan procedures. With recent advances in surgical management of HLHS patients, high survival rates are now obtained at tertiary treatment centers, though adverse neurodevelopmental outcomes remain a clinical challenge. While surgical management remains the standard of care for …

Artificial Intelligence In The Pediatric Echocardiography Laboratory: Automation, Physiology, And Outcomes, Minh B Nguyen, Olivier Villemain, Mark K Friedberg, Lasse Lovstakken, Craig G Rusin, Luc Mertens

Faculty, Staff and Students Publications

Artificial intelligence (AI) is frequently used in non-medical fields to assist with automation and decision-making. The potential for AI in pediatric cardiology, especially in the echocardiography laboratory, is very high. There are multiple tasks AI is designed to do that could improve the quality, interpretation, and clinical application of echocardiographic data at the level of the sonographer, echocardiographer, and clinician. In this state-of-the-art review, we highlight the pertinent literature on machine learning in echocardiography and discuss its applications in the pediatric echocardiography lab with a focus on automation of the pediatric echocardiogram and the use of echo data to better …

An Automated Risk Index For Diabetic Ketoacidosis In Pediatric Patients With Type 1 Diabetes: The Ri-Dka, David D Schwartz, Rosa Banuelos, Serife Uysal, Mili Vakharia, Kristen R Hendrix, Kelly Fegan-Bohm, Sarah K Lyons, Rona Sonabend, Sheila K Gunn, Selorm Dei-Tutu

Faculty, Staff and Students Publications

Identifying patients at high risk for diabetic ketoacidosis (DKA) is crucial for informing efforts at preventive intervention. This study sought to develop and validate an electronic medical record (EMR)-based tool for predicting DKA risk in pediatric patients with type 1 diabetes. Based on analysis of data from 1,864 patients with type 1 diabetes, three factors emerged as significant predictors of DKA: most recent A1C, type of health insurance (public vs. private), and prior DKA. A prediction model was developed based on these factors and tested to identify and categorize patients at low, moderate, and high risk for experiencing DKA within …

Sarscov-2 Serostatus Amongst Vaccinated Employees At A Pediatric Hospital System, Sridevi Devaraj, Izmarie Poventud-Fuentes, Matthew Girotto, Jermaine Monroe, Julie Boom, George Delclos, James Versalovic

Faculty, Staff and Students Publications

To gain insights on the heterogeneity of immune responses to vaccination against SARS-CoV-2 and to identify factors that could make individuals vulnerable to infection due to lack of response to vaccination, our hospital started offering free voluntary post-antibody testing against the spike protein IgG for all fully vaccinated employees.

Post-vaccination response against SARS-CoV-2 was assessed using the FDA-EUA approved VITROS anti-SARS-CoV-2 IgG immunometric assay specific to the spike protein.

Out of a total of 3266 antibody tests performed in fully vaccinated Texas Children’s, 99.4% had a positive antibody response to the spike protein. From the 21 employees (0.6%) that had …

The Texas Collaborative Center For Hepatocellular Cancer: Reducing Liver Cancer Mortality In Texas Through Coordination, Collaboration And Advocacy, Ariel C Harrison, Fasiha Kanwal, Sumeet K Asrani, Aaron P Thrift, Chris I Amos, Maria L Jibaja-Weiss, Jane R Montealegre, Jessica P Hwang, Amit G Singal, Hashem B El-Serag

Faculty, Staff and Students Publications

Texas has the highest age-adjusted incidence rate of hepatocellular carcinoma (HCC) in the United States. To address cancer prevention and early detection through research, Cancer Prevention and Research Institute of Texas (CPRIT) has funded the Texas Collaborative Center for Hepatocellular Cancer (TeCH) to facilitate liver cancer research, education and advocacy activities. This paper describes the organizational structure, program measures, the actions completed and future plans of TeCH. This center is comprised of several cores and committees including the Administrative Core, Steering Committee, Data and Biospecimen Core, Scientific Committee, Clinical Network Committee, and the Community Outreach Committee. Each core and committee …

Flow Dynamics In Anomalous Aortic Origin Of A Coronary Artery In Children: Importance Of The Intramural Segment, Hoda Hatoum, Rajesh Krishnamurthy, Jayanthi Parthasarathy, Dorma C Flemister, Carly M Krull, Benjamin A Walter, Carlos M Mery, Silvana Molossi, Lakshmi Prasad Dasi

Faculty, Staff and Students Publications

This study aims to assess the differences in pressure, fractional flow reserve (FFR) and coronary flow (with increasing pressure) of the proximal coronary artery in patients with anomalous aortic origin of a coronary artery with a confirmed ischemic event, without ischemic events, and before and after unroofing surgery, and compare to a patient with normal coronary arteries. Patient-specific flow models were 3D printed for 3 subjects with anomalous right coronary arteries with intramural course, 2 of them had documented ischemia, and compared with a patient with normal coronaries. The models were placed in the aortic position of a pulse duplicator …

Clinical Outcome And Gut Development After Insulin-Like Growth Factor-1 Supplementation To Preterm Pigs, Kristine Holgersen, Martin Bo Rasmussen, Galen Carey, Douglas G Burrin, Thomas Thymann, Per Torp Sangild

Faculty, Staff and Students Publications

BACKGROUND: Elevation of circulating insulin-like growth factor-1 (IGF-1) within normal physiological levels may alleviate several morbidities in preterm infants but safety and efficacy remain unclear. We hypothesized that IGF-1 supplementation during the first 1-2 weeks after preterm birth improves clinical outcomes and gut development, using preterm pigs as a model for infants.

METHODS: Preterm pigs were given vehicle or recombinant human IGF-1/binding protein-3 (rhIGF-1, 2.25 mg/kg/d) by subcutaneous injections for 8 days (Experiment 1, n = 34), or by systemic infusion for 4 days (Experiment 2, n = 19), before collection of blood and organs for analyses.

RESULTS: In both …

Pathologic Inflammation In Malnutrition Is Driven By Proinflammatory Intestinal Microbiota, Large Intestine Barrier Dysfunction, And Translocation Of Bacterial Lipopolysaccharide, Grace T Patterson, Elvia Y Osorio, Alex Peniche, Sara M Dann, Erika Cordova, Geoffrey A Preidis, Ji Ho Suh, Ichiaki Ito, Omar A Saldarriaga, Michael Loeffelholz, Nadim J Ajami, Bruno L Travi, Peter C Melby

Faculty, Staff and Students Publications

Acute malnutrition, or wasting, is implicated in over half of all deaths in children under five and increases risk of infectious disease. Studies in humans and preclinical models have demonstrated that malnutrition is linked to an immature intestinal microbiota characterized by increased prevalence of Enterobacteriaceae. Observational studies in children with moderate acute malnutrition (MAM) have also observed heightened systemic inflammation and increased circulating bacterial lipopolysaccharides (LPS; endotoxin). However, the mechanisms that underpin the systemic inflammatory state and endotoxemia, and their pathophysiological consequences, remain uncertain. Understanding these pathophysiological mechanisms is necessary to design targeted treatments that will improve the unacceptable rate …

Plastic Multilayered Closure Versus Orthopedic Surgeon Closure After Spinal Instrumentation In Pediatric Neuromuscular Scoliosis, Ekene U Ezeokoli, Poornima L Tamma, Neritan Borici, Ifeoma Inneh, Edward P Buchanan, Brian G Smith

Faculty, Staff and Students Publications

OBJECTIVE: To compare wound complication rates between orthopedic closure (OC) and plastic multilayered closure (PMC) in patients undergoing primary posterior spinal fusion for neuromuscular scoliosis (NMS). We hypothesize that multilayered closure will be associated with better postoperative outcomes.

METHODS: We collected data on pediatric patients diagnosed with NMS who underwent first time spinal instrumentation between 1 January 2018 and 31 May 2021. Patient demographics, length of surgery, spinal levels fused and operative variables, wound complication rate, treatments, and need for wound washout were reviewed in depth and recorded.

RESULTS: In total, 86 patients were reviewed: 46 with OC and 40 …

Paraventricular Vitamin D Receptors Are Required For Glucose Tolerance In Males But Not Females, Jessie Beck, Silvania Da Silva Teixeira, Keisha Harrison, Gabrielle Phillips, Yanlin He, Stephanie Sisley

Faculty, Staff and Students Publications

When delivered directly into the brain, vitamin D, can improve glucose levels in male mice. Additionally, the loss of the vitamin D receptor (VDR) in male mice's paraventricular hypothalamus (PVH) results in impaired glucose tolerance. Data in humans shows that low vitamin D levels are detrimental to glucose homeostasis, an effect that may be more prominent in men. However, it is unknown if vitamin D action in the brain is required for normal glucose regulation in female mice. This study shows that in both viral and genetic models, male mice with obesity and PVH VDR loss have impaired glucose tolerance …

De Novo Glycine Synthesis Is Reduced In Adults With Morbid Obesity And Increases Following Bariatric Surgery, Hong Chang Tan, Jean W Hsu, E Shyong Tai, Shaji Chacko, Vieon Wu, Chun Fan Lee, Jean-Paul Kovalik, Farook Jahoor

Faculty, Staff and Students Publications

BACKGROUND: Glycine is a dietary non-essential amino acid that is low in obesity and increases following bariatric surgery. However, the exact mechanism responsible remains unclear and it is unknown whether hypoglycinemia is a cause or consequence of insulin resistance.

OBJECTIVE: Using multiple isotopically labeled tracers, we aimed to determine the underlying kinetic changes responsible for hypoglycinemia in obesity by: 1) Comparing glycine kinetics between participants with morbid obesity (BMI ≥ 32.5 kg/m

METHODS: [1,2-

RESULTS: Compared to controls, participants with morbid obesity had significantly lower plasma glycine concentrations at 163 (153-171) vs. 201 (172-227) µmol/L and significantly reduced

CONCLUSION: Hypoglycinemia …

A 6-Year-Old Child With A New Diagnosis Of Perinatal Human Immunodeficiency Virus Infection, Kristen G Valencia Deray, Cassie Weyland, Diana Jeang, Gayatri Mirani, Lindsay H Cameron

Faculty, Staff and Students Publications

Perinatal human immunodeficiency virus transmission, while rare in the United States, should be considered in children with a history of recurrent infections, chronic respiratory symptoms and developmental delay. A delayed diagnosis of human immunodeficiency virus in children can lead to significant morbidity and mortality. We present a 6-year-old male who presented for evaluation and management of antibiotic refractory chronic cough and purulent nasal secretions, with a history of recurrent bacterial pneumonias and sinus infections, disseminated varicella zoster, and global developmental delay. He likely had perinatally acquired human immunodeficiency virus. At the time of his human immunodeficiency virus diagnosis, he met …

Health Disparities In Children And Adolescents Living In Lmic During Covid-19 Pandemic, Diane Nguyen, Satid Thammasitboon, Anna M Mandalakas

Faculty, Staff and Students Publications

PURPOSE OF REVIEW: The purpose of this editorial is to introduce the pediatric global health issue focusing on health disparities emerging from the COVID-19 pandemic on children and adolescents living in low- and middle-income countries (LMIC).

RECENT FINDINGS: As the COVID-19 pandemic ensues, children and adolescents living in LMIC have been disproportionately affected by socio-economic and mitigation practices, leading to widening disparities in health and the social determinants of health that influence their well-being.

SUMMARY: This pediatric global health issue brings to bare the extent, range, and nature of these health disparities, integrated with expert viewpoints, to prompt critical dialogue …

Eliminating Contamination In Umbilical Cord Blood Culture Sampling For Early-Onset Neonatal Sepsis., Vilmaris Quinones Cardona, Vanessa Lowery, David Cooperberg, Endla K Anday, Alison J Carey

Department of Pediatrics Faculty Papers

Introduction: Despite the advantages of umbilical cord blood culture (UCBC) use for diagnosis of early onset sepsis (EOS), contamination rates have deterred neonatologists from its widespread use. We aimed to implement UCBC collection in a level III neonatal intensive care unit (NICU) and apply quality improvement (QI) methods to reduce contamination in the diagnosis of early onset sepsis. Methods: Single-center implementation study utilizing quality improvement methodology to achieve 0% contamination rate in UCBC samples using the Plan-Do-Study-Act (PDSA) model for improvement. UCBC was obtained in conjunction with peripheral blood cultures (PBC) in neonates admitted to the NICU due to maternal …

Defining The Transcriptional Control Of Pediatric Aml Highlights Rara As A Superenhancer-Regulated Druggable Dependency, Monika W Perez, Oscar Sias-Garcia, Alfred Daramola, Helen Wei, Maci Terrell, Raushan Rashid, Woojun D Park, Kevin Duong, Terzah M Horton, Feng Li, Nikitha Cherayil, Jost Vrabic Koren, Vincent U Gant, Jacob J Junco, Choladda V Curry, Alexandra M Stevens, Charles Y Lin, Joanna S Yi

Faculty, Staff and Students Publications

Somatic mutations are rare in pediatric acute myeloid leukemia (pAML), indicating that alternate strategies are needed to identify targetable dependencies. We performed the first enhancer mapping of pAML in 22 patient samples. Generally, pAML samples were distinct from adult AML samples, and MLL (KMT2A)-rearranged samples were also distinct from non-KMT2A-rearranged samples. Focusing specifically on superenhancers (SEs), we identified SEs associated with many known leukemia regulators. The retinoic acid receptor alpha (RARA) gene was differentially regulated in our cohort, and a RARA-associated SE was detected in 64% of the study cohort across all cytogenetic and molecular subtypes tested. RARA SE+ pAML …

Central Line Associated Bloodstream Infection Caused By Kodamaea Ohmeri In A Young Child, Amier Haidar, Farhana Khaja, Brian Simms, Amr Issam Elgehiny, Tracy Omoegbele, Nikita Khetan

Faculty, Staff and Student Publications

INTRODUCTION:

CASE REPORT: The patient is a 5-year-old male with a history of short gut syndrome, and total parenteral nutrition (TPN) dependence who presented to the emergency room with a two-day history of productive-cough, rhinorrhea, and fever. Antibiotic therapy was initiated with cefepime and vancomycin for suspected CLABSI. However, within the first twenty-four hours of his admission, his initial blood culture from his central venous catheter became positive for yeast so fluconazole was added due to suspicion of candidemia. During his admission, his initial central line and peripheral blood culture were later speciated as

CONCLUSIONS: This case report further acknowledges …

Alterations In Excitatory And Inhibitory Synaptic Development Within The Mesolimbic Dopamine Pathway In A Mouse Model Of Prenatal Drug Exposure, Taylor Boggess, James C. Williamson, Ethan B. Niebergall, Hannah Sexton, Richard D. Egleton, Larry Grover, Chris Risher

Biomedical Sciences

The rise in rates of opioid abuse in recent years in the United States has led to a dramatic increase in the incidence of neonatal abstinence syndrome (NAS). Despite improved understanding of NAS and its acute symptoms, there remains a paucity of information regarding the long-term effects of prenatal exposure to drugs of abuse on neurological development. The primary goal of this study was to investigate the effects of prenatal drug exposure on synaptic connectivity within brain regions associated with the mesolimbic dopamine pathway, the primary reward pathway associated with drug abuse and addiction, in a mouse model. Our secondary …

Identifying The Molecular Cause Of Extreme Endoplasmic Reticulum Dilation In Pediatric Osteosarcoma And Its Relationship To The Disease, Rachael Wood

Theses and Dissertations (ETD)

Pediatric osteosarcoma tumors are characterized by an unusual abundance of grossly dilated endoplasmic reticulum and an immense genomic instability that has complicated identifying new effective molecular therapeutic targets. Here we report a novel molecular signature that encompasses the majority of 108 patient tumor samples, PDXs and osteosarcoma cell lines. These tumors exhibit reduced expression of four critical COPII vesicle proteins that has resulted in the accumulation of procollagen-I protein within ‘hallmark’ dilated ER. Using CRISPR activation technology, increased expression of only SAR1A and SEC24D to physiologically normal levels was sufficient to restore both collagen-I secretion and resolve dilated ER morphology …

A Staged Approach To Address Youth Unresponsive To Initial Obesity Intervention: A Randomized Clinical Trial, Katherine R Arlinghaus, Daniel P O'Connor, Tracey A Ledoux, Sheryl O Hughes, Craig A Johnston

Children’s Nutrition Research Center Staff Publications

Background/objective: Maintenance interventions inherently require BMI improvement to maintain. This overlooks individuals initially unresponsive to obesity interventions. Staged pediatric clinical treatment guidelines were adapted to the school setting to develop an escalated treatment option for individuals initially unresponsive. This staged randomized controlled trial examined differences between escalated treatment (Take CHARGE!) and a maintenance program (PE Planners). Take CHARGE was hypothesized to have greater improvements in BMI as a percentage of the 95th BMI Percentile (%BMIp95) than PE Planners.

Subjects/methods: From 2018 to 2020, 171 middle and high schoolers (BMI Percentile ≥ 85) were recruited from a Houston school district to …

Promoter Considerations In The Design Of Lentiviral Vectors For Use In Treating Lysosomal Storage Diseases, Estera Rintz, Takashi Higuchi, Hiroshi Kobayashi, Deni S Galileo, Grzegorz Wegrzyn, Shunji Tomatsu

Department of Pediatrics Faculty Papers

More than 50 lysosomal storage diseases (LSDs) are associated with lysosomal dysfunctions with the frequency of 1:5,000 live births. As a result of missing enzyme activity, the lysosome dysfunction accumulates undegraded or partially degraded molecules, affecting the entire body. Most of them are life-threatening diseases where patients could die within the first or second decade of life. Approximately 20 LSDs have the approved treatments, which do not provide the cure for the disorder. Therefore, the delivery of missing genes through gene therapy is a promising approach for LSDs. Over the years, ex vivo lentiviral-mediated gene therapy for LSDs has been …

Congenital Epulis: A Two-Case Report, Monica Ivanov, Bianca Stroe, Valeriu Ardeleanu, Razvan Hainarosie, Vlad Denis Constantin, Anca Silvia Dumitriu, Stana Paunica, Anna Kadar

Journal of Mind and Medical Sciences

Congenital epulis is a rare benign tumor of the newborn that could be detected in the prenatal period. Females are more often affected than males and the premaxillary region is usually the predilection site for this oral mass. Excision is the treatment of choice and no recurrences have been reported so far.

We present our experience with two cases of congenital epulis, detected in the second trimester of gestation and treated shortly after birth with no further complications. Histopathology should differentiate between congenital epulis and other congenital oral tumors even if its clinical appearance is usually enough to make a …

Collagen-Based Biomaterials With Possible Therapeutic Effects, Ramona Mihaela Nedelcuţă, Gigi Călin, Mihai Cristian Nedelcuţă, Vlad Dumitru Baleanu, Dragos Virgil Davitoiu, Bogdan Socea, Bogdan-Petre Stănoiu

Journal of Mind and Medical Sciences

Epidermolysis bullosa (EB) is a rare, serious genetic disease, incurable through the current means. Apart from this initial definition, there was later some ease in the definition of the disease, including the manifestations of toxic epidermal necrolysis and Stevens Johnson syndrome in this entity. In medical practice, there are cases that do not overlap with the description in the literature, thus the treatment must be adapted and personalized to the particularities. We present the case of a female new-born, with "de novo" mutation for the early-onset antenatal epidermolysis and our personalized therapeutic management, based on collagen from bovine corneas by …

Activation Of The Innate Immune System In Children With Irritable Bowel Syndrome Evidenced By Increased Fecal Human Β-Defensin-2, Robert J Shulman, Sridevi Devaraj, Margaret Heitkemper

Children’s Nutrition Research Center Staff Publications

Background & aims: The role of the innate immune system in functional gastrointestinal pain disorders is unclear. We investigated the role of β-defensin-2 and gut permeability in childhood irritable bowel syndrome (IBS) and functional abdominal pain (FAP) symptom generation.

Methods: Fecal β-defensin-2 (and in a subset, gut permeability) was measured in children with IBS (n = 116), FAP (n = 33), and healthy control (HC) children (n = 72). IBS and FAP patients were recruited from tertiary and primary care, and HCs were recruited from primary care.

Results: β-defensin-2 concentration was greater in children with IBS (P = .003) and …

Perspectives From The Society For Pediatric Research: Advice On Sustaining Science And Mentoring During Covid-19, Catherine S Forster, Suong T Nguyen, Weston T Powell, Daniel J Moore, Jacqueline Ho, Melvin B Heyman, Tara L Wenger, Fernando Gonzalez, Margaret Hostetter, Andrew Nowalk, Caroline E Rassbach, Debra Boyer, Pnina Weiss, Rebecca L Blankenburg, Jordan S Orange, Kate G Ackerman, Audrea M Burns, National Pediatric Physician-Scientist Collaborative Workgroup

Faculty, Staff and Students Publications

The COVID-19 pandemic will leave an indelible mark on the careers of current medical trainees. Given the disruptions to medical education, economic impact on institutions, and the uncertainties around future job prospects, trainees are facing unprecedented challenges. This situation is especially concerning for futures of pediatric physician-scientist trainees, where concerns regarding maintaining the pipeline were well documented prior to the emergence of COVID-19. In this Perspectives article, we leverage the unique expertise of our workgroup to address concerns of physician-scientist trainees and to provide suggestions on how to navigate career trajectories in the post-COVID-19 era. We identified and addressed four …

Intermittent Bolus Compared With Continuous Feeding Enhances Insulin And Amino Acid Signaling To Translation Initiation In Skeletal Muscle Of Neonatal Pigs, Agus Suryawan, Samer W El-Kadi, Hanh V Nguyen, Marta L Fiorotto, Teresa A Davis

Children’s Nutrition Research Center Staff Publications

Background: Nutrition administered as intermittent bolus feeds rather than continuously promotes greater protein synthesis rates in skeletal muscle and enhances lean growth in a neonatal piglet model. The molecular mechanisms responsible remain unclear.

Objectives: We aimed to identify the insulin- and/or amino acid-signaling components involved in the enhanced stimulation of skeletal muscle by intermittent bolus compared to continuous feeding in neonatal pigs born at term.

Methods: Term piglets (2-3 days old) were fed equal amounts of sow milk replacer [12.8 g protein and 155 kcal/(kg body weight · d)] by orogastric tube as intermittent bolus meals every 4 hours (INT) …

A Comparison Of Machine Learning Classifiers For Pediatric Epilepsy Using Resting-State Functional Mri Latency Data, Ryan D Nguyen, Matthew D Smyth, Liang Zhu, Ludovic P Pao, Shannon K Swisher, Emmett H Kennady, Anish Mitra, Rajan P Patel, Jeremy E Lankford, Gretchen Von Allmen, Michael W Watkins, Michael E Funke, Manish N Shah

Faculty, Staff and Student Publications

Epilepsy affects 1 in 150 children under the age of 10 and is the most common chronic pediatric neurological condition; poor seizure control can irreversibly disrupt normal brain development. The present study compared the ability of different machine learning algorithms trained with resting-state functional MRI (rfMRI) latency data to detect epilepsy. Preoperative rfMRI and anatomical MRI scans were obtained for 63 patients with epilepsy and 259 healthy controls. The normal distribution of latency z-scores from the epilepsy and healthy control cohorts were analyzed for overlap in 36 seed regions. In these seed regions, overlap between the study cohorts ranged from …

Renal Involvement And Its Treatment In Pediatric Patients With Proteinase-3 Anti-Neutrophil Cytoplasmic Antibody Positive Granulomatosis With Polyangiitis: A Case Series, Xiaoyan Wu, Elizabeth Mancuso, Isabel Armendi, David Krasinski, Lin Liu, Shauna Tarsi, Wayne R Waz, Rabheh Abdul-Aziz, Ewa Elenberg

Faculty, Staff and Students Publications

We describe three pediatric patients between the ages of 10 and 14 years old who were diagnosed with granulomatosis with polyangiitis (GPA) between 2014 and 2019. Each case involves variations in presentation, symptomatology, diagnostics, and induction and maintenance therapy regimens. Patient 1 presented with significant renal involvement, hypertensive emergency, and focal alveolar hemorrhage, a rare presentation of GPA that causes up to 60% mortality.Patient 2 presented with minimal renal involvement and a diffuse petechial rash, which is the most common cutaneous presentation of GPA. Finally, patient 3 presented with significant renal involvement and later on with symptoms of idiopathic intracranial …

Multisite Pain Is Highly Prevalent In Children With Functional Abdominal Pain Disorders And Is Associated With Increased Morbidity, Bruno P Chumpitazi, Tonya M Palermo, John M Hollier, Mariella M Self, Danita Czyzewski, Erica M Weidler, Margaret Heitkemper, Robert J Shulman

Children’s Nutrition Research Center Staff Publications

Objectives: To characterize the types of multisite pain experienced by children with functional abdominal pain disorders (FAPDs) and to examine differences in psychosocial distress, functional disability, and health-related quality of life in children with multisite pain vs abdominal pain alone.

Study design: Cross-sectional study of children ages 7-17 years (n = 406) with pediatric Rome III FAPDs recruited from both primary and tertiary care between January 2009 and June 2018. Subjects completed 14-day pain and stool diaries, as well as validated questionnaires assessing abdominal and nonabdominal pain symptoms, anxiety, depression, functional disability, and health-related quality of life.

Results: In total, …

Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis Of The Rsph4a Founder Mutation In Puerto Rico, Wilfredo De Jesús-Rojas, Dalilah Reyes De Jesús, Angélica M Nieves, Ricardo A Mosquera, Juan C Martinez-Cruzado

Faculty, Staff and Student Publications

Genetic mutations in >50 genes, including RSPH4A, can lead to primary ciliary dyskinesia (PCD). RSPH4A mutations affect radial spokes, which alter the configuration of the ciliary ultrastructure and lead to chronic oto-sinopulmonary disease. The RSPH4A [c.921+3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. The average Puerto Rican genetic composition includes 64% European, 21% African ancestral, and 15% Native-American or Taino, a native tribe in the Caribbean at the start of the European colonization, genes. Due to the relatively elevated Taino ancestry on the island, it might have contributed to the endemicity of …

Proof Of Concept: The Use Of Renal Biomarkers In Critically Ill Pediatric Patients For Therapeutic Drug Monitoring, Christopher Lee Shaffer

Theses & Dissertations

Acute kidney injury (AKI) is a serious and common complication in critically ill pediatric patients. The incidence of pediatric AKI continues to increase, especially in patients who undergo surgical correction of congenital heart defects. Serum creatinine and urine output are the most commonly used tools to assess renal function, with international guidelines standardizing AKI-definitions based upon these parameters. However, changes in serum creatinine can occur 24 hours or later after a renal insult event, delaying the diagnosis and potential interventions to reverse injury. It is critical to identify endogenous renal biomarkers within the pediatric population that are both timely and …