Medicine and Health Sciences Commons^™

Microstructural Analysis Does Not Support Altered Interhemispheric Wiring Of The Human Anterior Commissure In Corpus Callosum Dysgenesis, Timothy J Edwards, Ryan J Dean, Gail A Robinson, Jacquelyn Knight, Simone A Mandelstam, Linda J Richards

2020-Current year OA Pubs

BACKGROUND: Individuals with corpus callosum dysgenesis (CCD) lack the clear disconnection syndrome that is characteristic of individuals in whom the corpus callosum has been surgically severed. One potential explanation for this paradox is that the anterior commissure undergoes neuroplastic remodeling in CCD to improve interhemispheric communication between the brain hemispheres.

METHODS: A cohort of sixteen individuals with CCD (and sixteen sex and age-matched neurotypical controls) underwent multi-shell diffusion magnetic resonance high-field imaging (dMRI) at 7-Tesla to assess the anatomy of the anterior commissure for evidence of neuroplasticity.

RESULTS: No significant group-wise differences in midsagittal anterior commissure volumes were detected between …

Shared And Unique Heritability Of Hippocampal Subregion Volumes In Children And Adults, Jacob G Pine, Arpana Agrawal, Ryan Bogdan, Sridhar Kandala, Shelly Cooper, Deanna M Barch

2020-Current year OA Pubs

Behavioral genetic analyses have not demonstrated robust, unique, genetic correlates of hippocampal subregion volume. Genetic differentiation of hippocampal longitudinal axis subregion volume has not yet been investigated in population-based samples, although this has been demonstrated in rodent and post-mortem human tissue work. The following study is the first population-based investigation of genetic factors that contribute to gray matter volume along the hippocampal longitudinal axis. Twin-based biometric analyses demonstrated that longitudinal axis subregions are associated with significant, unique, genetic variance, and that longitudinal axis subregions are also associated with significant shared, hippocampus-general, genetic factors. Our study's findings suggest that genetic differences …

Biopsychosocial Factors Associated With Pain And Pain-Related Outcomes In Adults And Children With Sickle Cell Disease: A Multivariable Analysis Of The Grndad Multicenter Registry, Martha O Kenney, Sana Saif Ur Rehman, Et Al.

2020-Current year OA Pubs

Pain is the primary symptomatic manifestation of sickle cell disease (SCD), an inherited hemoglobinopathy. The characteristics that influence pain experiences and outcomes in SCD are not fully understood. The primary objective of this study was to use multivariable modeling to examine associations of biopsychosocial variables with a disease-specific measure of pain interference known as pain impact. We conducted a secondary analysis of data from the Global Research Network for Data and Discovery national SCD registry. A total of 657 children and adults with SCD were included in the analysis. This sample was 60% female with a median age of 34 …

Parents' Stigmatizing Beliefs About The Hpv Vaccine And Their Association With Information Seeking Behavior And Vaccination Communication Behaviors, Ashley Hedrick Mckenzie, Ross Shegog, Lara S Savas, C Mary Healy, L Aubree Shay, Sharice Preston, Sharon Coan, Travis Teague, Erica Frost, Stanley W Spinner, Sally W Vernon

Faculty, Staff and Student Publications

Parents' stigmatizing beliefs about the HPV vaccine, such as beliefs that it promotes adolescent sexual activity, constitute a notable barrier to vaccine uptake. The purpose of this study is to describe the associations between parents' stigmatizing beliefs about the HPV vaccine, psychosocial antecedents to vaccination, and parents' intentions to vaccinate their children. Parents of vaccine-eligible children (

Pediatric Necrobiotic Xanthogranuloma As A Novel Phenotype Of Ikaros Gain Of Function, Rachel Guess, George Harocopos, Jeffrey J Bednarski, Lynn M Hassmann, Tarin M Bigley

2020-Current year OA Pubs

No abstract provided.

Comparing The Effectiveness Of Mother-Focused Interventions To That Of Mother-Child Focused Interventions In Improving Maternal Postpartum Depression Outcomes: A Systematic Review, Divya Kumar, Waqas Hameed, Bilal Iqbal Avan

Community Health Sciences

Background: Most empirically researched interventions for postpartum depression (PPD) tend to target mothers' depression alone. Harmful effects of PPD on physical and mental health of both mother and child has led researchers to investigate the impact of interventions on PPD and child outcomes together. So far, the evidence is limited regarding how these interventions compare with those focusing only on mothers' depression. This review compares the effectiveness of PPD-improving interventions focusing only on mothers with those focusing on mother and child together.
Methods: Nine electronic databases were searched. Thirty-seven studies evaluating mother-focused (n = 30) and mother-child focused interventions (n …

Rapidiron Trial Follow-Up Study - The Rapidiron-Kids Study: Protocol Of A Prospective Observational Follow-Up Study, Richard Derman, Roopa Bellad, Mrutyunjaya Bellad, Jesse Bradford-Rogers, Michael Georgieff, Zubair Aghai, Simal Thind, Michael Auerbach, Rupsa Boelig, Benjamin Leiby, Vanessa Short, S. Yogeshkumar, Umesh Charantimath, Manjunath Somannavar, Ashalata Mallapur, Ramesh Pol, Umesh Ramadurg, Radha Sangavi, Basavaraj Peerapur, Nasima Banu, Praveen Patil, Amaresh Patil, Subarna Roy, Phaniraj Vastrad, Dennis Wallace, Hemang Shah, Shivaprasad Goudar

Global Health Articles

BACKGROUND: Anemia is a worldwide problem with iron deficiency being the most common cause. When anemia occurs in pregnancy, it increases the risk of adverse maternal, fetal, and postnatal outcomes. It induces preterm births and low birth weight (LBW) deliveries, long-term neurodevelopmental sequelae, and an increased risk of earlier onset of postnatal iron deficiency. Anemia rates are among the highest in South Asia, and India's National Family Health Survey (NFHS-5) for 2019-2021 indicated that over half of pregnant women, and more than 65% of children, in the country are classified as anemic (Sciences IIfP, National Family Health Survey-5, 2019-21, India …

Research Priorities For Children’S Cancer: A James Lind Alliance Priority Setting Partnership In The Uk, Susie Aldiss, Rachel Hollis, Bob Phillips, Ashley Ball-Gamble, Alex Brownsdon, Julia Chisholm, Scott Crowther, Rachel Dommett, Jonathan Gower, Nigel J Hall, Helen Hartley, Jenni Hatton, Louise Henry, Loveday Langton, Kirsty Maddock, Sonia Malik, Keeley Mcevoy, Jessica Elizabeth Morgan, Helen Morris, Simon Parke, Sue Picton, Rosa Reed-Berendt, Dan Saunders, Andy Stewart, Wendy Tarplee-Morris, Amy Walsh, Anna Watkins, David Weller, Faith Gibson

Faculty, Staff and Student Publications

OBJECTIVES: To engage children who have experienced cancer, childhood cancer survivors, their families and professionals to systematically identify and prioritise research questions about childhood cancer to inform the future research agenda.

DESIGN: James Lind Alliance Priority Setting Partnership.

SETTING: UK health service and community.

METHODS: A steering group oversaw the initiative. Potential research questions were collected in an online survey, then checked to ensure they were unanswered. Shortlisting via a second online survey identified the highest priority questions. A parallel process with children was undertaken. A final consensus workshop was held to determine the Top 10 priorities.

PARTICIPANTS: Children and …

Pediatric Endocrinology Milestones 20-Guide To Their Implementation, Cara V Tillotson, Imen Becetti, Katherine Hwu, Laura Page, Sowmya Krishnan, Dianne Stafford, Takara Stanley, Patricia Vuguin, Jennifer M Barker

Faculty, Staff and Students Publications

The Milestones were initiated by the Accreditation Council for Graduate Medical Education (ACGME) to provide a framework for monitoring a trainee's progression throughout residency/fellowship. The Milestones describe stepwise skill progression through six core domains of clinical competency: Patient Care, Medical Knowledge, Interpersonal and Communication Skills, Practice-based Learning and Improvement, Professionalism, and Systems-based Practice. Since their introduction in 2013, several barriers to implementation have emerged. Thus, the ACGME launched the Milestones 2.0 project to develop updated specialty-specific milestones. The Pediatric Endocrinology Milestones 2.0 project aimed to improve upon Milestones 1.0 by addressing common limitations, providing resources for faculty to easily incorporate …

Biomarkers Of Affective Dysregulation Associated With In Utero Exposure To Etoh, Nune Darbinian, Nana Merabova, Gabriel Tatevosian, Mary Morrison, Armine Darbinyan, Huaqing Zhao, Laura Goetzl, Michael Edgar Selzer

Faculty, Staff and Student Publications

INTRODUCTION: Children with fetal alcohol spectrum disorders (FASD) exhibit behavioral and affective dysregulation, including hyperactivity and depression. The mechanisms are not known, but they could conceivably be due to postnatal social or environmental factors. However, we postulate that, more likely, the affective dysregulation is associated with the effects of EtOH exposure on the development of fetal serotonergic (5-HT) and/or dopaminergic (DA) pathways, i.e., pathways that in postnatal life are believed to regulate mood. Many women who use alcohol (ethanol, EtOH) during pregnancy suffer from depression and take selective serotonin reuptake inhibitors (SSRIs), which might influence these monoaminergic pathways in the …

Rotavirus-Mediated Dgat1 Degradation: A Pathophysiological Mechanism Of Viral-Induced Malabsorptive Diarrhea, Zheng Liu, Hunter Smith, Jeanette M Criglar, Antonio J Valentin, Umesh Karandikar, Xi-Lei Zeng, Mary K Estes, Sue E Crawford

Faculty, Staff and Students Publications

Gastroenteritis is among the leading causes of mortality globally in infants and young children, with rotavirus (RV) causing ~258 million episodes of diarrhea and ~128,000 deaths annually in infants and children. RV-induced mechanisms that result in diarrhea are not completely understood, but malabsorption is a contributing factor. RV alters cellular lipid metabolism by inducing lipid droplet (LD) formation as a platform for replication factories named viroplasms. A link between LD formation and gastroenteritis has not been identified. We found that diacylglycerol O-acyltransferase 1 (DGAT1), the terminal step in triacylglycerol synthesis required for LD biogenesis, is degraded in RV-infected cells by …

Genetic And Epigenetic Features Of Bilateral Wilms Tumor Predisposition In Patients From The Children’S Oncology Group Aren18b5-Q, Andrew J Murphy, Changde Cheng, Justin Williams, Timothy I Shaw, Emilia M Pinto, Karissa Dieseldorff-Jones, Jack Brzezinski, Lindsay A Renfro, Brett Tornwall, Vicki Huff, Andrew L Hong, Elizabeth A Mullen, Brian Crompton, Jeffrey S Dome, Conrad V Fernandez, James I Geller, Peter F Ehrlich, Heather Mulder, Ninad Oak, Jamie Maciezsek, Carolyn M Jablonowski, Andrew M Fleming, Prahalathan Pichavaram, Christopher L Morton, John Easton, Kim E Nichols, Michael R Clay, Teresa Santiago, Jinghui Zhang, Jun Yang, Gerard P Zambetti, Zhaoming Wang, Andrew M Davidoff, Xiang Chen

Faculty, Staff and Student Publications

Developing synchronous bilateral Wilms tumor suggests an underlying (epi)genetic predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or genome sequencing (n = 85 tumors from 61 patients with matched germline blood DNA), RNA-seq (n = 99 tumors), and DNA methylation analysis (n = 61 peripheral blood, n = 29 non-diseased kidney, n = 99 tumors). We determine the predominant events for bilateral Wilms tumor predisposition: 1)pre-zygotic germline genetic variants readily detectable in blood DNA [WT1 (14.8%), NYNRIN (6.6%), TRIM28 (5%), and BRCA-related genes (5%)] or 2)post-zygotic epigenetic hypermethylation at 11p15.5 H19/ICR1 that may require analysis of …

Assessing Risk For Complications In Acute Hematogenous Osteomyelitis In Children: Validation Of 2 Predictive Scores, Adriana Sarmiento Clemente, J Chase Mcneil, Kristina G Hultén, Jesus G Vallejo, Michael E Scheurer, Sheldon L Kaplan

Faculty, Staff and Students Publications

Background: Acute hematogenous osteomyelitis (AHO) can be associated with severe complications which can be difficult to predict in the clinical setting. The previously published predictive acute complication score ("A-SCORE") and chronic complication score ("C-SCORE") show promise, however, further external validation is needed.

Methods: We performed a retrospective study of 418 children with AHO and analyzed the performance of A-SCORE (variables included bone abscess, fever after 48 h of starting antibiotics, suppurative arthritis, disseminated disease, and delayed source control) to predict risk for acute complicated course (treatment failure, prolonged admission, and/or need for ≥2 bone debridements) and C-SCORE (includes disseminated disease, …

Apixaban For Prevention Of Thromboembolism In Pediatric Heart Disease, R Mark Payne, Kristin M Burns, Andrew C Glatz, Christoph Male, Andrea Donti, Leonardo R Brandão, Gunter Balling, Christina J Vanderpluym, Frances Bu'lock, Lazaros K Kochilas, Brigitte Stiller, James F Cnota, Otto Rahkonen, Asra Khan, Rachele Adorisio, Serban Stoica, Lindsay May, Jane C Burns, Jose Francisco K Saraiva, Kimberly E Mchugh, John S Kim, Agustin Rubio, Nadia G Chía-Vazquez, Marcie R Meador, Joshua L Dyme, Alison M Reedy, Toni Ajavon-Hartmann, Praneeth Jarugula, Lauren E Carlson-Taneja, Donna Mills, Olivia Wheaton, Paul Monagle

Faculty, Staff and Students Publications

Background: Children with heart disease frequently require anticoagulation for thromboprophylaxis. Current standard of care (SOC), vitamin K antagonists or low-molecular-weight heparin, has significant disadvantages.

Objectives: The authors sought to describe safety, pharmacokinetics (PK), pharmacodynamics, and efficacy of apixaban, an oral, direct factor Xa inhibitor, for prevention of thromboembolism in children with congenital or acquired heart disease.

Methods: Phase 2, open-label trial in children (ages, 28 days to < 18 years) with heart disease requiring thromboprophylaxis. Randomization 2:1 apixaban or SOC for 1 year with intention-to-treat analysis.

Primary endpoint: a composite of adjudicated major or clinically relevant nonmajor bleeding. Secondary endpoints: PK, pharmacodynamics, quality of life, and exploration of efficacy.

Results: From 2017 to 2021, 192 participants were randomized, 129 …

Development And Validation Of A Multiplex Real-Time Pcr Assay For Detection And Quantification Of Streptococcus Pneumoniae In Pediatric Respiratory Samples, Molly Butler, Garrett Breazeale, Eric Mwangi, Elaine Dowell, Samuel R Dominguez, Linda Lamberth, Kristina G Hultén, Sarah A Jung

Faculty, Staff and Students Publications

Streptococcus pneumoniae (Spn) is a bacterial pathogen that causes a range of disease manifestations in children, from acute otitis media to pneumonia, septicemia, and meningitis. Primary Spn laboratory diagnostic identification methods include culture, antigen testing, single-plex real-time PCR, and syndromic PCR panels. However, each method lacks sensitivity, specificity, and/or cost efficiency. We developed and validated a quantitative, multiplex PCR assay using three Spn genomic targets (lytA, piaB, and SP2020) for improved sensitivity and specificity to detect Spn in pleural fluid (PF), bronchoalveolar lavage (BAL), tracheal aspirate (TA), and upper respiratory (UR, research only) samples. Validation testing …

Detection Of Prions In The Urine Of Patients Affected By Sporadic Creutzfeldt-Jakob Disease, M Talke

Faculty, Staff and Student Publications

Objective

Currently, it is unknown whether infectious prions are present in peripheral tissues and biological fluids of patients affected by sporadic Creutzfeldt–Jakob disease (sCJD), the most common prion disorder in humans. This represents a potential risk for inter‐individual prion infection. The main goal of this study was to evaluate the presence of prions in urine of patients suffering from the major subtypes of sCJD.

Methods

Urine samples from sCJD patients spanning the six major subtypes were tested. As controls, we used urine samples from people affected by other neurological or neurodegenerative diseases as well as healthy controls. These samples were …

Rab1a Haploinsufficiency Phenocopies The 2p14-P15 Microdeletion And Is Associated With Impaired Neuronal Differentiation, Jonathan J Rios, Yang Li, Nandina Paria, Ryan J Bohlender, Chad Huff, Jill A Rosenfeld, Pengfei Liu, Weimin Bi, Kentaro Haga, Mitsunori Fukuda, Shayal Vashisth, Kiran Kaur, Maria H Chahrour, Michael B Bober, Angela L Duker, Farah A Ladha, Neil A Hanchard, Kristhen Atala, Anas M Khanshour, Linsley Smith, Carol A Wise, Mauricio R Delgado

Faculty, Staff and Student Publications

Hereditary spastic parapareses (HSPs) are clinically heterogeneous motor neuron diseases with variable age of onset and severity. Although variants in dozens of genes are implicated in HSPs, much of the genetic basis for pediatric-onset HSP remains unexplained. Here, we re-analyzed clinical exome-sequencing data from siblings with HSP of unknown genetic etiology and identified an inherited nonsense mutation (c.523C>T [p.Arg175Ter]) in the highly conserved RAB1A. The mutation is predicted to produce a truncated protein with an intact RAB GTPase domain but without two C-terminal cysteine residues required for proper subcellular protein localization. Additional RAB1A mutations, including two frameshift mutations and …

An Efficacy And Safety Evaluation Of Montelukast + Fluticasone Propionate Vs Fluticasone Propionate In The Treatment Of Cough Variant Asthma In Children: A Meta-Analysis, Zhengbo Wei, Sheng Li

Faculty, Staff and Student Publications

PURPOSE: This study aimed to evaluate the efficacy and safety of montelukast (Mon) + fluticasone propionate (Flu) versus Flu in the treatment of cough variant asthma (CVA) in children.

METHODS: Eligible documents were selected from various databases. Weighted mean difference (WMD) and 95% confidence interval (CI) were used to evaluate continuous variables, and categorical variables were evaluated using risk ratio (RR) and 95% CI. Heterogeneity analysis was performed using Cochran's Q test and I

RESULTS: Nine studies were included, and Flu + Mon was found to significantly improve the total effective rate and reduce cough recurrence compared to Flu. The …

Analysis Of Non-Kinship Foster Parent Training Needs And Their Support Of Foster Youth: An Occupational Therapy Perspective, Mackenzie King, Pam Kasyan-Howe, Kristin Domville, Amy Paul-Ward

Fall 2023 Virtual OTD Capstone Symposium

This poster discusses the training needs of non-kinship foster parents and how they support the youth in their care. A quantitative survey was used to find relationships between experience fostering and foster parent preparedness or desire for additional training. The survey also included a section for participants to write down their training needs; themes from this question are found on the poster. The poster further discusses future recommendations and implications for OT practice in working with this population.

Selection Of Surgical Modality For Massive Splenomegaly In Children, Yong Li, Congjun Wang, Weilong Chen, Chao Chen, Xianming Tang, Hong Wang, Jiabo Chen, Qiang Liu, Wei Li, Yanqiang Li, Peng Chen, Yige Luo, Cheng Su

Faculty, Staff and Student Publications

BACKGROUND: Laparoscopic splenectomy (LS), a treatment for both benign and malignant splenic diseases, can prove technically challenging in patients with massive splenomegaly. In particular, the optimal surgical modality for treating massive splenomegaly in children remains controversial.

METHODS: The clinicopathologic data of 289 pediatric patients undergoing splenectomy for massive splenomegaly were studied in a retrospective analysis. Accordingly, the patients were classified into the LS surgery group and open splenectomy (OS) surgery group. In the laparoscopy cohort, they were separated into two subgroups according to the method of surgery: the multi-incision laparoscopic splenectomy (MILS) and the single-incision laparoscopic splenectomy (SILS) surgery groups, …

Effects Of Antiresorptive Medications On Tooth Root Formation And Tooth Eruption In Paediatric Patients, Yuki Arai, Jeryl D English, Noriaki Ono, Wanida Ono

Faculty, Staff and Student Publications

Tooth eruption is a pivotal milestone for children's growth and development. This process involves with the formation of the tooth root, the periodontal ligament (PDL) and the alveolar bone, as the tooth crown penetrates the bone and gingiva to enter the oral cavity. This review aims to outline current knowledge of the adverse dental effects of antiresorptive medications. Recently, paediatric indications for antiresorptive medications, such as bisphosphonates (BPs), have emerged, and these agents are increasingly used in children and adolescents to cure pathological bone resorption associated with bone diseases and cancers. Since tooth eruption is accompanied by osteoclastic bone resorption, …

Mediators And Moderators Of Active Music Engagement To Reduce Traumatic Stress Symptoms And Improve Well-Being In Parents Of Young Children With Cancer., Sheri L. Robb, Kristin Stegenga, Susan M. Perkins, Timothy E. Stump, Karen M. Moody, Amanda K. Henley, Jessica Maclean, Seethal A. Jacob, David Delgado, Paul R. Haut

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: This trial examined the effects of proximal/distal mediators and moderators of an Active Music Engagement (AME) intervention on young child/parent distress, quality of life, and family function outcomes.

METHODS: Child/parent dyads (n = 125) were randomized to AME or Audio-storybooks attention control condition. Each group received 3 sessions with a credentialed music therapist for 3 consecutive days with data collection at baseline, post-intervention (T2), and 30-days later (T3). Potential proximal mediators included within session child and parent engagement. Potential distal mediators included changes in perceived family normalcy, parent self-efficacy, and independent use of play materials. Potential moderators included parent/child …

Comment On Marsigliante Et Al Effects On Children's Physical And Mental Well-Being Of A Physical-Activity-Based School Intervention Program: A Randomized Study, Raphiel Murden, Jon Agley, Lilian Golzarri-Arroyo, Armando Peña, Danny Valdez, Abu Bakkar Siddique, Moonseong Heo, David B Allison

Children’s Nutrition Research Center Staff Publications

We conducted a critical review of the article “Effects on Children’s Physical and Mental Well-Being of a Physical-Activity-Based School Intervention Program: A Randomized Study”, published in the International Journal of Environmental Research and Public Health in 2023 as part of the Special Issue “Psychomotricity and Physical Education in School Health”. We identified multiple mistakes in the statistical analyses applied. First, the authors claim to have found a statistically significant association between the proposed intervention and change in body composition (body mass index (BMI) percentiles, relative fat mass, and BMI classes) by way of exhibiting differences in nominal significance between the …

Acute And Chronic Kidney Injury During Therapy For Pediatric Acute Leukemia: A Report From The Leukemia Electronic Abstraction Of Records Network (Learn), Wendy Hsiao, Yimei Li, Kelly Getz, Lusha Cao, Edward Krause, Mark Ramos, Judy Lee, Maria Monica Gramatges, Karen R Rabin, Michael E Scheurer, Richard Aplenc, Michelle Denburg, Tamara P Miller

Center for Medical Ethics and Health Policy Staff Publications

Children with acute leukemia are at increased risk of kidney injury. Using electronic health record data from three centers between 2010 and 2018, this study retrospectively described acute kidney injury (AKI) and chronic kidney disease (CKD) prevalence in children with acute lymphoblastic or myeloid leukemia (ALL, AML) using Common Terminology Criteria for Adverse Events (CTCAE) and Kidney Disease Improving Global Outcomes (KDIGO) definitions. AKI during therapy was 25% (ALL) and 32% (AML) using CTCAE, versus 84% (ALL) and 74% (AML) using KDIGO. CKD prevalence was low and Grade 1/Stage 2. Further investigation is needed to optimally define kidney injury in …

"My Gut Feeling Is…": An Ethnographic Study Exploring Interprofessional Communication About Children And Adolescents With Chronic Musculoskeletal Pain In Paediatric Rheumatology., Rebecca R. Lee, Janet E. Mcdonagh, Tim Rapley, Albert Farre, Mark Connelly, Tonya M. Palermo, Karine Toupin-April, Emily Wakefield, Sarah Peters, Lis Cordingley

Manuscripts, Articles, Book Chapters and Other Papers

Interprofessional communication about inflammatory and non-inflammatory musculoskeletal conditions is an important component of assessment and management in paediatric rheumatology. Chronic pain is a feature of some of these conditions which likely influences the extent and type of communication about pain. Research investigating interprofessional communication about paediatric pain is limited but has found that communication is inclusive of the biopsychosocial context of children/adolescents as well as their families. The aim of this ethnographic study was to explore interprofessional communication about children and adolescents with chronic musculoskeletal pain in paediatric rheumatology. We observed forty-five healthcare professionals recruited from 3 UK paediatric rheumatology …

Leukocyte Cell-Derived Chemotaxin 2 Correlates With Pediatric Non-Alcoholic Fatty Liver Disease., Diego Paine-Cabrera, Lisa Harvey, Dakota R. Robarts, Michele T. Pritchard, John Thyfault, Steven A. Weinman, Udayan Apte, Voytek Slowik

Manuscripts, Articles, Book Chapters and Other Papers

Non-alcoholic fatty liver disease (NAFLD), newly renamed metabolic dysfunction-associated liver disease (MASLD), is a leading cause of liver disease in children and adults. There is a paucity of data surrounding potential biomarkers and therapeutic targets, especially in pediatric NAFLD. Leukocyte cell-derived chemotaxin 2 (LECT2) is a chemokine associated with both liver disease and skeletal muscle insulin resistance. Our aim was to determine associations between LECT2 and common clinical findings of NAFLD in pediatric patients. Enzyme-linked immunosorbent assay (ELISA) was used to measure serum LECT2 concentrations in children (aged 2-17 years) with and without NAFLD. LECT2 concentrations were then correlated to …

Sars-Cov-2 Epidemiology And Covid-19 Mrna Vaccine Effectiveness Among Infants And Children Aged 6 Months-4 Years - New Vaccine Surveillance Network, United States, July 2022-September 2023., Ayzsa Tannis, Janet A. Englund, Ariana Perez, Elizabeth J. Harker, Mary Allen Staat, Elizabeth P. Schlaudecker, Natasha B. Halasa, Laura S. Stewart, John V. Williams, Marian G. Michaels, Rangaraj Selvarangan, Jennifer E. Schuster, Leila C. Sahni, Julie A. Boom, Geoffrey A. Weinberg, Peter G. Szilagyi, Benjamin R. Clopper, Yingtao Zhou, Meredith L. Mcmorrow, Eileen J. Klein, Heidi L. Moline

Manuscripts, Articles, Book Chapters and Other Papers

SARS-CoV-2 infection in young children is often mild or asymptomatic; however, some children are at risk for severe disease. Data describing the protective effectiveness of COVID-19 mRNA vaccines against COVID-19-associated emergency department (ED) visits and hospitalization in this population are limited. Data from the New Vaccine Surveillance Network, a prospective population-based surveillance system, were used to estimate vaccine effectiveness using a test-negative, case-control design and describe the epidemiology of SARS-CoV-2 in infants and children aged 6 months-4 years during July 1, 2022-September 30, 2023. Among 7,434 children included, 5% received a positive SARS-CoV-2 test result, and 95% received a negative …

Precision Therapy For A Medically Actionable Atp1a3 Variant From A Genomic Medicine Program In An Underserved Population, Cara P Ford, Rebecca O Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A Schmid

Duncan NRI Faculty and Staff Publications

Background: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing by his public insurance.

Methods: After informed consent was obtained, buccal cells from the proband were collected and whole exome sequencing was performed. Illumina Dragen and Emedgene software was used to analyze the data at Baylor Genetics. The variants were further intepreted according to ACMG …

Incidence And Risk Factors For Neutropenia After Intra-Arterial Chemotherapy For Retinoblastoma, Debora H Lee, Richard Donkor, Matthew N Parvus, Mark J Dannenbaum, Amy C Schefler

Faculty, Staff and Student Publications

Importance: Intra-arterial chemotherapy (IAC) has quickly gained popularity as a mainstay of treatment for retinoblastoma. Intra-arterial chemotherapy has been described as having several advantages over systemic chemotherapy, including reducing systemic toxicity and neutropenia; however, studies on the risk of neutropenia after IAC remain limited.

Objective: To estimate the incidence of neutropenia after IAC, as well as identify risk factors associated with the development of neutropenia.

Design, setting, and participants: This case series included pediatric patients with unilateral or bilateral retinoblastoma who were treated with IAC at a single quaternary care center from July 13, 2013, to January 6, 2023.

Exposure: …

Alk-Rearranged Epithelioid Mesenchymal Neoplasm: Expanding The Spectrum Of Tyrosine Kinase-Altered Mesenchymal Tumors, Catherine K Gestrich, Jessica L Davis, Laura Biederman, Ivy John, Rita Alaggio, Isabella Giovannoni, Michael A Arnold, Archana Shenoy, Amanda Tchakarov, Alyaa Al-Ibraheemi

Faculty, Staff and Student Publications

The anaplastic lymphoma kinase (ALK) gene encodes a receptor tyrosine kinase, and fusions involving this gene have been reported in a variety of mesenchymal neoplasms. ALK-altered tumors with epithelioid morphology have been described in epithelioid inflammatory myofibroblastic sarcoma and epithelioid fibrous histiocytoma. Herein, we describe the clinicopathologic features of 7 ALK-rearranged mesenchymal tumors with epithelioid morphology occurring predominately in the pediatric population. Tumors occurred in 4 females and 3 males with an age ranging from 1 month to 28 years. Five tumors were superficial and solitary, while 1 presented with multiple peritoneal/omental nodules, and 1 presented as a large mediastinal …