Pediatrics Commons^™

Sensory Experiences Questionnaire Unravels Differences In Sensory Profiles Between Mecp2-Related Disorders, Bernhard Suter, Davut Pehlivan, Muharrem Ak, Holly K Harris, Ariel M Lyons-Warren

Faculty, Staff and Students Publications

The methyl CpG-binding protein-2 (MECP2) gene is located on the Xq28 region. Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences between these gene dosage sensitive disorders. Further, research examining sensory processing patterns in persons with RTT and MDS is largely absent. Thus, the goal of this study was to analyze and compare sensory processing patterns in persons with RTT and MDS. Towards this goal, caregivers of 50 female individuals with RTT and 122 …

Neurocritical Care And Neuromonitoring Considerations In Acute Pediatric Spinal Cord Injury, Ajay X Thomas, Jennifer C Erklauer

Faculty, Staff and Students Publications

Management of pediatric spinal cord injury (SCI) is an essential skill for all pediatric neurocritical care physicians. In this review, we focus on the evaluation and management of pediatric SCI, highlight a novel framework for the monitoring of such patients in the intensive care unit (ICU), and introduce advancements in critical care techniques in monitoring and management. The initial evaluation and characterization of SCI is crucial for improving outcomes as well as prognostication. While physical examination and imaging are the main stays of the work-up, we propose the use of somatosensory evoked potentials (SSEPs) and transcranial magnetic stimulation (TMS) for …

Outcomes Of Extracorporeal Cardiopulmonary Resuscitation For In-Hospital Cardiac Arrest Among Children With Noncardiac Illness Categories, Morgann Loaec, Adam S Himebauch, Ron Reeder, Jessica S Alvey, Jonathan A Race, Lillian Su, Javier J Lasa, Julia C Slovis, Tia T Raymond, Ryan Coleman, Bradley J Barney, Todd J Kilbaugh, Alexis A Topjian, Robert M Sutton, Ryan W Morgan

Faculty, Staff and Students Publications

Objectives: The objective of this study was to determine the association of the use of extracorporeal cardiopulmonary resuscitation (ECPR) with survival to hospital discharge in pediatric patients with a noncardiac illness category. A secondary objective was to report on trends in ECPR usage in this population for 20 years.

Design: Retrospective multicenter cohort study.

Setting: Hospitals contributing data to the American Heart Association's Get With The Guidelines-Resuscitation registry between 2000 and 2021.

Patients: Children (< 18 yr) with noncardiac illness category who received greater than or equal to 30 minutes of cardiopulmonary resuscitation (CPR) for in-hospital cardiac arrest.

Interventions: None.

Measurements and main results: Propensity score weighting balanced ECPR and conventional CPR (CCPR) groups on hospital and patient characteristics. Multivariable logistic regression incorporating …

Relevance Of Lymphocyte Proliferation To Pha In Severe Combined Immunodeficiency (Scid) And T Cell Lymphopenia, Roshini S Abraham, Amrita Basu, Jennifer R Heimall, Elizabeth Dunn, Alison Yip, Malika Kapadia, Neena Kapoor, Lisa Forbes Satter, Rebecca Buckley, Richard O'Reilly, Geoffrey D E Cuvelier, Sharat Chandra, Jeffrey Bednarski, Sonali Chaudhury, Theodore B Moore, Hilary Haines, Blachy J Dávila Saldaña, Deepakbabu Chellapandian, Ahmad Rayes, Karin Chen, Emi Caywood, Shanmuganathan Chandrakasan, Mark Thomas Vander Lugt, Christen Ebens, Pierre Teira, Evan Shereck, Holly Miller, Victor Aquino, Hesham Eissa, Lolie C Yu, Alfred Gillio, Lisa Madden, Alan Knutsen, Ami J Shah, Kenneth Desantes, Jessie Barnum, Larisa Broglie, Avni Y Joshi, Gary Kleiner, Jasmeen Dara, Susan Prockop, Caridad Martinez, Talal Mousallem, Joseph Oved, Lauri Burroughs, Rebecca Marsh, Troy R Torgerson, Jennifer W Leiding, Sung Yun Pai, Donald B Kohn, Michael A Pulsipher, Linda M Griffith, Luigi D Notarangelo, Morton J Cowan, Jennifer Puck, Christopher C Dvorak, Elie Haddad

Faculty, Staff and Students Publications

Severe combined immunodeficiency (SCID) is characterized by a severe deficiency in T cell numbers. We analyzed data collected (n = 307) for PHA-based T cell proliferation from the PIDTC SCID protocol 6901, using either a radioactive or flow cytometry method. In comparing the two groups, a smaller number of the patients tested by flow cytometry had < 10% of the lower limit of normal proliferation as compared to the radioactive method (p = 0.02). Further, in patients with CD3+ T cell counts between 51 and 300 cells/μL, there was a higher proliferative response with the PHA flow assay compared to the 3H-T assay (p < 0.0001), suggesting that the method of analysis influences the resolution and interpretation of PHA results. Importantly, we observed many SCID patients with profound T cell lymphopenia having normal T cell proliferation when assessed by flow cytometry. We recommend this test be considered only as supportive in the diagnosis of typical SCID.

Current And Future Perspectives On The Consensus Guideline For Food Protein-Induced Enterocolitis Syndrome (Fpies), Sara Anvari, Melanie A Ruffner, Anna Nowak-Wegrzyn

Faculty, Staff and Students Publications

Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE mediated food allergy presenting with delayed onset of projectile vomiting in the absence of cutaneous and respiratory symptoms. The pathophysiology of FPIES remains poorly characterized. The first international consensus guidelines for FPIES were published in 2017 and provided clinicians with parameters on the diagnosis and treatment of FPIES. The guidelines have served as a resource in the recognition and management of FPIES, contributing to an increased awareness of FPIES. Since then, new evidence has emerged, shedding light on adult-onset FPIES, the different phenotypes of FPIES, the recognition of new food triggers, center-specific …

Scurvy In An Adolescent: A Case Report, Tony Du, Abhay Kulkarni

Faculty, Staff and Students Publications

Scurvy is a rare condition characterized by a deficiency in dietary vitamin C. Historically a disease taught in the context of long ocean voyages with limited vitamin intake, it is now rare in developed nations. The classical physical exam findings include gingival bleeding, perifollicular hemorrhages, and corkscrew hairs. We discuss the case of a 15-year-old female with scurvy whose initial presentation suggested more common diagnoses seen in the emergency department setting. Her course was complicated by a prior history of anorexia nervosa and a restrictive diet that lacked necessary vitamins. Once the patient's dietary habits were identified, a detailed physical …

The Impact Of Kangaroo Care On The Weight Gain Of Premature Infants, Heather Vincequere

SACAD: Scholarly Activities

Premature birth remains a global health concern, affecting approximately 15 million infants annually (WHO, 2023). Kangaroo Care (KC), involving skin-to-skin contact between caregivers and infants, was developed as a promising intervention to mitigate the adverse effects of prematurity. This study aimed to investigate the impact of KC on weight gain among preterm infants in the neonatal intensive care unit (NICU) at Doctors Hospital of Augusta (DHOA). A quasi-experimental quantitative posttest-only design was employed, with eight preterm infants (< 37 weeks gestation) participating in KC for at least 30 minutes daily. Daily weight measurements were collected over a four-week period and compared to the expected weight gain for infants receiving traditional incubator care. Results revealed a statistically significant increase in weight gain among infants receiving KC compared to the historical average for infants in traditional incubator care (t (7) = 2.443, p = 0.022). A large effect size (Cohen's d = 0.864) further supported the significance of these findings. Despite limitations such as a small sample size and convenience sampling, this study emphasizes that KC enhances weight gain in preterm infants, thus improving overall health outcomes. Implementation of KC requires ongoing support from nurse leaders to ensure proper education and successful integration into routine care practices. Nonetheless, continued research with larger samples and improved randomization is warranted to fully understand the long-term benefits of KC in neonatal care settings.

Dissection, Histological Processing, And Gene Expression Analysis Of Murine Supraclavicular Brown Adipose Tissuejove: Peer Reviewed Scientific Video Journal Article Protocols, Mark G Waterstraat, Ziyi Wang, Mari Kogiso, Rommel Caballero-Juarez, Miao-Hsueh Chen

Faculty, Staff and Students Publications

Brown adipose tissue (BAT)-mediated thermogenesis plays an important role in the regulation of metabolism, and its morphology and function can be greatly impacted by environmental stimuli in mice and humans. Currently, murine interscapular BAT (iBAT), which is located between two scapulae in the upper dorsal flank of mice, is the main BAT depot used by research laboratories to study BAT function. Recently, a few previously unknown BAT depots were identified in mice, including one analogous to human supraclavicular brown adipose tissue. Unlike iBAT, murine supraclavicular brown adipose tissue (scBAT) is situated in the intermediate layer of the neck and thus …

Development Of Ige-Mediated Food Allergies In Children With History Of Food Protein-Induced Allergic Proctocolitis: A Series Of Five Cases, Kim L. Tran, Elizabeth L. Wisner, George M. Jeha, Luke A. Wall

School of Medicine Faculty Publications

Food protein-induced allergic proctocolitis (FPIAP) is a non-IgE-mediated allergic condition that presents with hematochezia in otherwise healthy infants. It is most commonly induced by cow's milk protein via breast milk or formula. The prognosis for FPIAP is generally considered favorable with most infants achieving symptomatic resolution after diet modification. Most infants go on to tolerate the offending foods by 1–3 years of age. Over 8 years at our institution, five patients were identified and noted to have FPIAP to cow's milk during infancy with subsequent development of IgE-mediated allergic reaction to cow's milk and other foods. All five cases developed …

Axodetect: An Automated Nerve Image Segmentation And Quantification Workflow For Computational Nerve Modeling, David A Lloyd, Maria Alejandra Gonzalez-Gonzalez, Mario I Romero-Ortega

Faculty, Staff and Students Publications

Objective: Bioelectronic treatments targeting near-organ innervation have unprecedented clinical applications. Particularly in the spleen, the inhibition of the cholinergic inflammatory response by near-organ nerve stimulation has potential to replace pharmacological treatments in chronic and autoimmune diseases. A caveat is that the optimization of therapeutic stimulation parameters relies on in vivo experimentation, which becomes challenging due to the small nerve diameters (2 m), complex anatomy, and mixed axon type composition of the autonomic nerves. Effective development of in silico models requires tools which allow for fast and efficient quantification of axonal composition of specific nerves. Current approaches to generate such …

Treating Your Child's Springtime Allergies, Maggie Mckay, Jay Portnoy

Parent-ish Podcast

The warmer weather is here...but for some, along with it comes seasonal allergies that can make you child feel a little crummy. Dr. Jay Portnoy discusses the cause of seasonal allergies, the pollens and how you can help your child feel better so they can enjoy springtime.

Click here to stream the podcast episode.

Identification Of An Early Survival Prognostic Gene Signature For Localized Osteosarcoma Patients, Tajhal D Patel, Sandra L Grimm, Rupa S Kanchi, Tanmay Gandhi, Amrit Koirala, Jason T Yustein, Cristian Coarfa

Faculty, Staff and Students Publications

Osteosarcoma is the most prevalent bone tumor in pediatric patients. Neoadjuvant chemotherapy has improved osteosarcoma patient survival, however the 5-year survival rate for localized osteosarcoma is 75% with a 30-50% recurrence rate. We, therefore, sought to identify a prognostic gene signature which could predict poor prognosis in localized osteosarcoma patients. Using the TARGET osteosarcoma transcriptomic dataset, we identified a 13-hub gene signature associated with overall survival and time to death of localized osteosarcoma patients, with the high-risk group showing a 22% and the low-risk group showing 100% overall survival. Furthermore, network analysis identified five modules of co-expressed genes that significantly …

The Ethics And Practice Of Periviability Care, Alex C Vidaeff, Joseph W Kaempf

Faculty, Staff and Students Publications

Since the 1960s, the gestational age at which premature infants typically survive has decreased by approximately one week per decade [1]. Survival is now reported at remarkably early gestational ages. In 2022, the Vermont Oxford Network reported neonatal intensive care unit (NICU) survival rates of 21%, 46%, and 63% at 22, 23, and 24 weeks’ gestation [2]. Presently, in industrialized nations, the so-called periviability interval refers to the gestational age period of possible survival that extends from approximately 22 to 25 weeks’ gestation. Newborns born within this period are distinguished by their need for extraordinarily complex …

Oral Feeding Of Infants Who Require Noninvasive Respiratory Support: Retrospective Investigations, Carolyn Barnes

MUSC Theses and Dissertations

There is a dearth of evidence supporting the safety and efficacy of orally feeding infants who require noninvasive respiratory support (NIRS). This dissertation investigates clinical practices surrounding orally feeding infants on NIRS. Manuscript 1 systematically reviews parameters impacting study of this practice. Findings emphasize the dearth of objective data surrounding this practice, and that additional research must be conducted before safety and efficacy outcomes of this practice can be established. Manuscript 2 retrospectively uses electronic health record data to describe which infant populations are orally fed during NIRS use, amount of NIRS used during infant oral feeding, changes in practice …

Childhood Cancer Mutagenesis Caused By Transposase-Derived Pgbd5, Makiko Yamada, Ross R Keller, Rodrigo Lopez Gutierrez, Daniel Cameron, Hiromichi Suzuki, Reeti Sanghrajka, Jake Vaynshteyn, Jeffrey Gerwin, Francesco Maura, William Hooper, Minita Shah, Nicolas Robine, Phillip Demarest, N Sumru Bayin, Luz Jubierre Zapater, Casie Reed, Steven Hébert, Ignas Masilionis, Ronan Chaligne, Nicholas D Socci, Michael D Taylor, Claudia L Kleinman, Alexandra L Joyner, G Praveen Raju, Alex Kentsis

Faculty, Staff and Students Publications

Genomic rearrangements are a hallmark of most childhood tumors, including medulloblastoma, one of the most common brain tumors in children, but their causes remain largely unknown. Here, we show that PiggyBac transposable element derived 5 (Pgbd5) promotes tumor development in multiple developmentally accurate mouse models of Sonic Hedgehog (SHH) medulloblastoma. Most Pgbd5-deficient mice do not develop tumors, while maintaining normal cerebellar development. Ectopic activation of SHH signaling is sufficient to enforce cerebellar granule cell progenitor-like cell states, which exhibit Pgbd5-dependent expression of distinct DNA repair and neurodevelopmental factors. Mouse medulloblastomas expressing Pgbd5 have increased numbers of somatic structural DNA rearrangements, …

The Koolungar Moorditj Healthy Skin Project: Elder And Community Led Resources Strengthen Aboriginal Voice For Skin Health, Bernadette M. Ricciardo, Jacinta Walton, Noel Nannup, Dale Tilbrook, Heather-Lynn Kessaris, Carol Michie, Brad Farrant, Roni Forrest, Annette Garlett, Joanne Hill, Larissa Jones, Natasha Kickett, Sally Smith, Delys Walton, Taleah Ugle, Nadia Rind, Richelle Douglas, Jodie Ingrey, Brenda Carter, Ainslie Poore, Ingrid Amgarth-Duff, Hannah Thomas, Prasad S. Kumarasinghe, Jonathan R. Carapetis, Asha C. Bowen

Journal of the Australian Indigenous HealthInfoNet

In partnership with local Aboriginal Community Controlled Health Organisations, the Elder-led co-designed Koolungar Moorditj Healthy Skin project is guided by principles of reciprocity, capacity building, respect, and community involvement. Through this work, the team of Elders, community members, clinicians and research staff have gained insight into the skin health needs of urban-living Aboriginal koolungar (children); and having identified a lack of targeted and culturally appropriate health literacy and health promotion resources on moorditj (strong) skin, prioritised development of community-created healthy skin resources. Community members self-appointed to Aboriginal Community Advisory Groups (CAG) on Whadjuk (Perth) …

Investigating The Use Of Finerenone In Children With Chronic Kidney Disease And Proteinuria: Design Of The Fiona And Open-Label Extension Studies., Franz Schaefer, Giovanni Montini, Hee Gyung Kang, Johan Vande Walle, Joshua Zaritsky, Michiel F. Schreuder, Mieczyslaw Litwin, Andrea Scalise, Helen Scott, James Potts, Pablo Iveli, Stefanie Breitenstein, Bradley A. Warady

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Proteinuria is a modifiable risk factor for chronic kidney disease (CKD) progression in children. Finerenone, a selective, non-steroidal, mineralocorticoid receptor antagonist (MRA) has been approved to treat adults with CKD associated with type 2 diabetes mellitus (T2DM) following results from the phase III clinical trials FIDELIO-DKD (NCT02540993) and FIGARO-DKD (NCT02545049). In a pre-specified pooled analysis of both studies (N = 13,026), finerenone was shown to have an acceptable safety profile and was efficacious in decreasing the risk of adverse kidney and cardiovascular outcomes and of proteinuria.

OBJECTIVE: FIONA and the associated open-label extension (OLE) study aim to demonstrate that …

Lowest Instrumented Vertebrae In Early Onset Scoliosis: Is There A Role For A More Selective Approach?, Michael J. Heffernan, Claudia Leonardi, Lindsay M. Andras, Bailli Fontenot, Luke Drake, Joshua M. Pahys, John T. Smith, Peter F. Sturm, George H. Thompson, Michael P. Glotzbecker, Tyler A. Tetreault, Benjamin D. Roye, Ying Li

School of Public Health Faculty Publications

Purpose: This purpose of this study was to assess the impact of patient and implant characteristics on LIV selection in ambulatory children with EOS and to assess the relationship between the touched vertebrae (TV), the last substantially touched vertebrae (LSTV), the stable vertebrae (SV), the sagittal stable vertebrae (SSV), and the LIV. Methods: A multicenter pediatric spine database was queried for patients ages 2–10 years treated by growth friendly instrumentation with at least 2-year follow up. The relationship between the LIV and preoperative spinal height, curve magnitude, and implant type were assessed. The relationships between the TV, LSTV, SV, SSV, …

Mental Health Screening In Pediatric Lower Limb Deficiency Population, Emily Marshall, Eileen Shieh, Jeanne M. Franzone, Paul T. Enlow

Department of Pediatrics Faculty Papers

BACKGROUND: Youth with lower limb deficiency (LLD) may be at increased risk for mental health difficulties. However, guidelines around psychosocial screening are not well established.

OBJECTIVE: To describe the implementation and results of a mental health screening process in a multidisciplinary prosthetics clinic.

DESIGN: Survey.

SETTING: Outpatient specialty care clinic located within a children's hospital.

PATIENTS: All patients ages 0-18 years with LLD seen at a monthly multidisciplinary prosthetics clinic between September 2019 and January 2023 (n = 75).

INTERVENTIONS: Not applicable.

MAIN OUTCOMES MEASURES: Quality of life was measured by the Patient-Reported Outcomes Measurement Information System (PROMIS) pediatric proxy …

Mapping Sca1 Regional Vulnerabilities Reveals Neural And Skeletal Muscle Contributions To Disease, Lisa Duvick, W Michael Southern, Kellie A Benzow, Zoe N Burch, Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie A Sheeler, Orion Rainwater, Shannah Serres, Erin B Lind, Tessa Nichols-Meade, Yun You, Brennon O'Callaghan, Huda Y Zoghbi, Marija Cvetanovic, Vanessa C Wheeler, James M Ervasti, Michael D Koob, Harry T Orr

Duncan NRI Faculty and Staff Publications

Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an expanded polyglutamine tract in the widely expressed ataxin-1 (ATXN1) protein. To elucidate anatomical regions and cell types that underlie mutant ATXN1-induced disease phenotypes, we developed a floxed conditional knockin mouse (f-ATXN1146Q/2Q) with mouse Atxn1 coding exons replaced by human ATXN1 exons encoding 146 glutamines. f-ATXN1146Q/2Q mice manifested SCA1-like phenotypes including motor and cognitive deficits, wasting, and decreased survival. Central nervous system (CNS) contributions to disease were revealed using f-ATXN1146Q/2Q;Nestin-Cre mice, which showed improved rotarod, open field, and Barnes maze performance by 6-12 weeks of age. In contrast, …

Pediatric Beta Blocker Therapy: A Comprehensive Review Of Development And Genetic Variation To Guide Precision-Based Therapy In Children, Adolescents, And Young Adults., Mollie Walton, Jonathan B. Wagner

Manuscripts, Articles, Book Chapters and Other Papers

Beta adrenergic receptor antagonists, known as beta blockers, are one of the most prescribed medications in both pediatric and adult cardiology. Unfortunately, most of these agents utilized in the pediatric clinical setting are prescribed off-label. Despite regulatory efforts aimed at increasing pediatric drug labeling, a majority of pediatric cardiovascular drug agents continue to lack pediatric-specific data to inform precision dosing for children, adolescents, and young adults. Adding to this complexity is the contribution of development (ontogeny) and genetic variation towards the variability in drug disposition and response. In the absence of current prospective trials, the purpose of this comprehensive review …

Deep Sequencing Of Candidate Genes Identified 14 Variants Associated With Smoking Abstinence In An Ethnically Diverse Sample, Paul M Cinciripini, David W Wetter, Jian Wang, Robert Yu, George Kypriotakis, Tapsi Kumar, Jason D Robinson, Yong Cui, Charles E Green, Andrew W Bergen, Thomas R Kosten, Steven E Scherer, Sanjay Shete

Faculty, Staff and Student Publications

Despite the large public health toll of smoking, genetic studies of smoking cessation have been limited with few discoveries of risk or protective loci. We investigated common and rare variant associations with success in quitting smoking using a cohort from 8 randomized controlled trials involving 2231 participants and a total of 10,020 common and 24,147 rare variants. We identified 14 novel markers including 6 mapping to genes previously related to psychiatric and substance use disorders, 4 of which were protective (CYP2B6 (rs1175607105), HTR3B (rs1413172952; rs1204720503), rs80210037 on chr15), and 2 of which were associated with reduced cessation (PARP15 (rs2173763), SCL18A2 …

A Journey In Science: Molecular Vaccines For Global Child Health In Troubled Times Of Anti-Science, Peter J Hotez

Faculty, Staff and Students Publications

My scientific life in translational medicine runs in two parallel, yet often converging paths. The first, is four-decade-long commitment to develop new vaccines for parasitic and neglected tropical diseases, as well as pandemic threats. This includes a vaccine for human hookworm infection that I began as an MD-PhD student in New York City in the 1980s, and a new low-cost COVID vaccine that reached almost 100 million people in low- and middle-income countries. Alongside this life in scientific research, is one in public engagement for vaccine and neglected disease diplomacy to ensure that people who live in extreme poverty can …

The Evidence Of Electronic Cigarettes For Harm Reduction Is Not There, Manuel C Pacheco Gallego, Harold J Farber

Faculty, Staff and Students Publications

No abstract provided.

Single Cell Atlas Of Human Gastric Muscle Immune Cells And Macrophage-Driven Changes In Idiopathic Gastroparesis, Lakshmikanth L Chikkamenahalli, Erik Jessen, Cheryl E Bernard, W K Eddie Ip, Margaret Breen-Lyles, Gianluca Cipriani, Suraj R Pullapantula, Ying Li, Shefaa Alasfoor, Laura Wilson, Kenneth L Koch, Braden Kuo, Robert J Shulman, Bruno P Chumpitazi, Travis J Mckenzie, Todd A Kellogg, James Tonascia, Frank A Hamilton, Irene Sarosiek, Richard Mccallum, Henry P Parkman, Pankaj J Pasricha, Thomas L Abell, Gianrico Farrugia, Surendra Dasari, Madhusudan Grover, Niddk Gastroparesis Clinical Research Consortium (Gpcrc)

Faculty, Staff and Students Publications

Gastrointestinal immune cells, particularly muscularis macrophages (MM) interact with the enteric nervous system and influence gastrointestinal motility. Here we determine the human gastric muscle immunome and its changes in patients with idiopathic gastroparesis (IG). Single cell sequencing was performed on 26,000 CD45+ cells obtained from the gastric tissue of 20 subjects. We demonstrate 11 immune cell clusters with T cells being most abundant followed by myeloid cells. The proportions of cells belonging to the 11 clusters were similar between IG and controls. However, 9/11 clusters showed 578-11,429 differentially expressed genes. In IG, MM had decreased expression of tissue-protective and microglial …

When Will The Glomerular Filtration Rate In Former Preterm Neonates Catch Up With Their Term Peers?, Yunjiao Wu, Karel Allegaert, Robert B. Flint, Sebastiaan C. Goulooze, Pyry A.J. Välitalo, Matthijs De Hoog, Hussain Mulla, Catherine M.T. Sherwin, Sinno H.P. Simons, Elke H.J. Krekels, Catherijne A.J. Knibbe, Swantje Völler

Pediatrics Faculty Publications

Aims: Whether and when glomerular filtration rate (GFR) in preterms catches up with term peers is unknown. This study aims to develop a GFR maturation model for (pre)term-born individuals from birth to 18 years of age. Secondarily, the function is applied to data of different renally excreted drugs. Methods: We combined published inulin clearance values and serum creatinine (Scr) concentrations in (pre)term born individuals throughout childhood. Inulin clearance was assumed to be equal to GFR, and Scr to reflect creatinine synthesis rate/GFR. We developed a GFR function consisting of GFRbirth (GFR at birth), and an Emax model dependent on PNA …

Alkindi Sprinkle For Pediatric Patients With Primary Adrenocortical Insufficiency: A Narrative Review, Alan D. Kaye, Munira E. Khaled, Kristin Nicole Bembenick, John Lacey, Anamika Tandon, Rucha A. Kelkar, Alyssa G. Derouen, Corrado Ballaera, Debbie Chandler, Shahab Ahmadzadeh, Sahar Shekoohi, Giustino Varrassi

School of Medicine Faculty Publications

Adrenocortical insufficiency, also known as adrenal insufficiency (AI), is an endocrine disorder characterized by inadequate production of adrenal hormones, including glucocorticoids and mineralocorticoids (MCs). The condition can be categorized as primary, secondary, or tertiary AI, depending on the location of the defect. Classical symptoms of AI include weakness, fatigue, abdominal pain, tachycardia, hypotension, electrolyte imbalances, and hyperpigmentation. In children, the most common cause of AI is classical congenital adrenal hyperplasia, which results from a deficiency in the 21-hydroxylase enzyme. The 21-hydroxylase enzyme produces all steroids, such as cortisol and aldosterone. AI management primarily involves hormone replacement therapy, typically with oral …

Infant Appendicitis: A Case Presentation Of Appendicitis In A Nine-Month-Old Infant With Respiratory Syncytial Virus (Rsv) And Otitis Media And Review Of Literature., Leslie Hueschen, April Mcneill-Johnson

Manuscripts, Articles, Book Chapters and Other Papers

Appendicitis in children < 5 years old is uncommon and even less common in children < 1 year old. Symptoms of appendicitis can be non-specific and mimic other common pediatric diseases, causing delays in diagnosis. Without a timely diagnosis, young children with appendicitis are at risk of developing worsening disease, intra-abdominal abscess, perforation, and bacteremia. We submit a case of a nine-month-old male infant presenting with fever, vomiting, and irritability seen the day prior and treated for otitis media, who was ultimately diagnosed with appendicitis with concomitant viral infection (respiratory syncytial virus and human rhinovirus/enterovirus) and treated with intravenous antibiotics and laparoscopic appendectomy. This case illustrates how easy it is to misdiagnose infant appendicitis due to factors including normal developmental speech barriers, nonspecific presentations, and overlap of symptoms with many other common childhood illnesses, along with a challenging abdominal examination. Delay in diagnosis leads to increased rates of perforation and complications. Providers should trust abnormal physical examination findings, especially abdominal guarding against palpation, and keep a wide differential diagnosis in order to diagnose appendicitis in young children.

Metabolomic Profiles In Jamaican Children With And Without Autism Spectrum Disorder, Akram Yazdani, Maureen Samms-Vaughan, Sepideh Saroukhani, Jan Bressler, Manouchehr Hessabi, Amirali Tahanan, Megan L Grove, Tanja Gangnus, Vasanta Putluri, Abu Hena Mostafa Kamal, Nagireddy Putluri, Katherine A Loveland, Mohammad H Rahbar

Faculty, Staff and Student Publications

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a wide range of behavioral and cognitive impairments. While genetic and environmental factors are known to contribute to its etiology, the underlying metabolic perturbations associated with ASD which can potentially connect genetic and environmental factors, remain poorly understood. Therefore, we conducted a metabolomic case-control study and performed a comprehensive analysis to identify significant alterations in metabolite profiles between children with ASD and typically developing (TD) controls.

OBJECTIVE: To elucidate potential metabolomic signatures associated with ASD in children and identify specific metabolites that may serve as biomarkers for the disorder. …

Nf-Κb As An Inducible Regulator Of Inflammation In The Central Nervous System, Sudha Anilkumar, Elizabeth Wright-Jin

Department of Medicine Faculty Papers

The NF-κB (nuclear factor K-light-chain-enhancer of activated B cells) transcription factor family is critical for modulating the immune proinflammatory response throughout the body. During the resting state, inactive NF-κB is sequestered by IκB in the cytoplasm. The proteasomal degradation of IκB activates NF-κB, mediating its translocation into the nucleus to act as a nuclear transcription factor in the upregulation of proinflammatory genes. Stimuli that initiate NF-κB activation are diverse but are canonically attributed to proinflammatory cytokines and chemokines. Downstream effects of NF-κB are cell type-specific and, in the majority of cases, result in the activation of pro-inflammatory cascades. Acting as …