Medicine and Health Sciences Commons^™

Assessment And Management Of Magnesium And Trace Element Status In Children With Ckd Stages 2-5, On Dialysis And Post-Transplantation: Clinical Practice Points From The Pediatric Renal Nutrition Taskforce., Jetta Tuokkola, Caroline E. Anderson, Sheridan Collins, Pearl Pugh, Molly R Wong Vega, Matthew Harmer, Lyndsay A. Harshman, Christina L. Nelms, Barry Toole, An Desloovere, Fabio Paglialonga, Nonnie Polderman, José Renken-Terhaerdt, Rukshana Shroff, Evelien Snauwaert, Stella Stabouli, Johan Vande Walle, Bradley A. Warady, Vanessa Shaw, Larry A. Greenbaum

Manuscripts, Articles, Book Chapters and Other Papers

Children and young people with chronic kidney disease (CKD) are at risk for deficiency or excess of magnesium and trace elements. Kidney function, dialysis, medication, and dietary and supplemental intake can affect their biochemical status. There is much uncertainty about the requirements of magnesium and trace elements in CKD, which leads to variation in practice. The Pediatric Renal Nutrition Taskforce is an international team of pediatric kidney dietitians and pediatric nephrologists, formed to develop evidence-based clinical practice points to improve the nutritional care of children with CKD. PICO (patient, intervention, comparator, and outcomes) questions led the literature searches, which were …

Natural History Of Primary Retroperitoneal Extra-Visceral Perivascular Epithelioid Cell Tumors (Pec): A Study From Transatlantic And Australasian Retroperitoneal Sarcoma Working Group (Tarpswg), Eyal Mor, Sameer Apte, Catherine Mitchell, Carolyn Nessim, Max Almond, Bruno Vincenzi, Jose Antonio Gonzalez Lopez, Lee Cranmer, Michael J Wagner, Aviram Nissan, Miguel Henriques Abreu, Markus Albertsmeier, Mathilda Knoblauch, Adam Barlow, Emily Z Keung, Giovanni Grignani, Jason L Hornick, Alessandro Gronchi, David E Gyorki

Faculty, Staff and Student Publications

Background: Perivascular epithelioid cell tumors (PEComa) are a rare family of mesenchymal tumors that include several subtypes. There are very limited data describing the natural history of patients with extra-visceral retroperitoneal PEComas of the retroperitoneum. The aim of this study is to describe the clinical features, treatment patterns, outcomes, and diagnostic challenges of primary extra-visceral retroperitoneal or abdominopelvic PEComa over the past decade.

Patients and methods: This is a retrospective analysis of all extra-visceral, non-renal, retroperitoneal, or abdominopelvic PEComas treated at participating centers over the past 10 years.

Results: A total of 77 patients from 13 centers were included. The …

Relationship Between Quantitative Mri Ute T2* Of Acl Autografts And Bmi-Normalized Knee Laxity Within The First Year After Acl Reconstruction, Alonso Figueroa, Tomasz Bugajski, Dillon Humpal, Manickam Kumaravel, Walter Lowe, Payam Zandiyeh

Faculty, Staff and Student Publications

Background: The anterior cruciate ligament reconstruction (ACLR) graft undergoes a remodeling process that affects its structural properties. Ultrashort echo time T2* (UTE-T2*) imaging has been instrumental in examining this process. However, more research is needed on the postoperative relationship between UTE-T2* of the graft and its mechanical properties.

Purpose: To longitudinally examine ACL graft changes after ACLR using UTE-T2* decay coefficients and knee laxity and explore their relationship.

Study design: Case series; Level of evidence, 4.

Methods: A total of 31 patients who underwent ACLR had magnetic resonance imaging of their knees at 1, 6, and 12 months after surgery …

Alterations In Region-Specific Gray Matter Volume Underlying Callous Unemotional Traits In Adolescents, Johannah Bashford-Largo, Ru Zhang, R James R Blair, Karina S Blair, Jaimie Elowsky, Matthew Dobbertin, Ahria J Dominguez, Melissa Hatch, Tyler Patrick, Sahil Bajaj

Faculty, Staff and Student Publications

Background: Callous-unemotional (CU) traits during adolescence, for example, shallow affect or lack of remorse, have been shown to be a risk marker for antisocial behavior. Only a few studies have investigated structural brain alterations underlying CU traits, and findings are inconclusive. The study examines CU symptomatology and gray matter volume (GMV) associations.

Methods: Structural brain MRI data were collected from a sample of 578 adolescents (60% male) with a mean age of 14.85 years (SD = 2.30; range = 10-19 years). CU traits were indexed via the Inventory for Callous Unemotional Traits (ICU). Region-wise volumetric parameters were obtained following parcellation …

Measurement-Based Care For Depression In Youth: Practical Considerations For Selecting Measures To Assess Depression, Associated Features And Functioning, Cynthia Garza, Diana Chapa, Catherine Hernandez, Hayley Aramburu, Taryn L. Mayes, Graham J. Emslie

School of Medicine Publications

Identification and management of major depressive disorder (MDD) in children and adolescents remains a significant area of public health need. The process for identifying depression (e.g. screening) and management (e.g. measurement based care [MBC]) is substantially enhanced by utilization of clinical measures and rating scales. Measures can be self- or caregiver reported or clinician rated. They can aid recognition of at-risk individuals for future assessment and assist in clinical diagnosis and management of depression. In addition to assessing symptoms of depression, rating scales can be used to assess important associated features (e.g. anxiety, trauma) and functional outcomes (e.g. quality of …

Engagement In And Correlates Of Total Cutaneous Exams And Skin Self-Exams Among Young Melanoma Survivors And Their Family, Sharon L Manne, Deborah A Kashy, Sherry Pagoto, Susan K Peterson, Carolyn J Heckman, Joseph Gallo, Adam Berger, David B Buller, Alexandria Kulik, Sara Frederick, Morgan Pesanelli

Faculty, Staff and Student Publications

Young adult melanoma survivors and their close family (first degree relatives/FDRs) are at increased risk for developing a melanoma, but little is known about engagement in and correlates of their clinical skin exam (CSE) and skin self-examination (SSE) behaviors. Five hundred and seventy-four YA survivors and their FDRs completed an online survey assessing engagement in CSE and SSE, as well as measures of background factors, cognitive and psychosocial factors, CSE and SSE planning, and family influences. Approximately 90% of YAs had a CSE and 90% performed SSE in the last year, but engagement in CSE among FDRs was lower (63.2%, …

Aging And The Spectral Properties Of Brain Hemodynamics, Ki Yun Park, Abraham Z Snyder, Manu S Goyal, Timothy O Laumann, John J Lee, Babatunde Adeyemo, Nicholas Metcalf, Andrei G Vlassenko, Joshua S Shimony, Eric C Leuthardt

2020-Current year OA Pubs

Cerebral glucose metabolism (CMRGlc) systematically decreases with advancing age. We sought to identify correlates of decreased CMRGlc in the spectral properties of fMRI signals imaged in the task-free state. Lifespan resting-state fMRI data acquired in 455 healthy adults (ages 18-87 years) and cerebral metabolic data acquired in a separate cohort of 94 healthy adults (ages 25-45 years, 65-85 years) were analyzed. The spectral properties of the fMRI data were characterized in terms of the relative predominance of slow versus fast activity using the spectral slope (SS) measure. We found that the relative proportion of fast activity increases with advancing age …

Upper And Lower Airway Microbiota Across Infancy And Childhood, Ariel J Hernandez-Leyva, Anne L Rosen, Christopher P Tomera, Elaina E Lin, Elikplim H Akaho, Allison M Blatz, William R Otto, Joey Logan, Lisa R Young, Rebecca M Harris, Samantha A Whiteside, Andrew L Kau, Audrey R Odom John

2020-Current year OA Pubs

BACKGROUND: The upper and lower respiratory tracts feature distinct environments and responses affecting microbial colonization but investigating the relationship between them is technically challenging. We aimed to identify relationships between taxa colonizing the nasopharynx and trachea across childhood.

METHODS: We employed V4 16S rRNA gene sequencing to profile nasopharyngeal swabs and tracheal aspirates collected from 172 subjects between 20 weeks and 18 years of age. These samples were collected prior to elective procedures over the course of 20 weeks in 2020 from subjects enrolled in a cross-sectional study. After extraction, sequencing, and quality control, we studied the remaining 147 of …

Functional Outcomes In Pediatric Patients On Renal Replacement Therapy In A Worldwide Registry, Kristin J Dolan, Katja M Gist, Abby Basalely, Gabriella Bottari, Abhishek Chakraborty, Mihaela Damian, Dana Fuhrman, Denise C Hasson, Catherine Joseph, Dave Kwiatkowski, Susan Martin, Jenn Nhan, Nicolas Ollberding, David T Selewski, Danielle Soranno, Michelle C Starr, Amy Strong, Sameer Thadani, Huaiyu Zang, Ayse Akcan Arikan

Faculty, Staff and Students Publications

Background and hypothesis: Mortality rates of children supported with continuous renal replacement therapy (CRRT) have improved, yet morbidity remains high. We aimed to evaluate the functional outcomes of children receiving CRRT using Functional Status Scale (FSS). We hypothesized that children receiving CRRT will have worse FSS compared with their baseline and acquire new morbidity at hospital discharge and 6 and 12 months post-discharge, and that lack of renal recovery will contribute to worsening functional status.

Methods: This is a retrospective chart review from The Worldwide Exploration of Renal Replacement Outcomes Collaborate in Kidney Disease (WE-ROCK), an international multi-center registry. Twenty-eight …

Motion Impact Score For Detecting Spurious Brain-Behavior Associations, Benjamin P Kay, David F Montez, Scott Marek, Joshua S Siegel, Babatunde Adeyemo, Timothy O Laumann, Athanasia Metoki, Roselyne J Chauvin, Andrew N Van, Vahdeta Suljic, Samuel R Krimmel, Ryland L Miller, Dillan J Newbold, Annie Zheng, Nicole A Seider, Kristen M Scheidter, Julia S Monk, Jarod L Roland, Evan M Gordon, Abraham Z Snyder, Deanna M Barch, Nico U F Dosenbach, Et Al.

2020-Current year OA Pubs

In-scanner head motion introduces systematic bias to resting-state fMRI functional connectivity (FC) not completely removed by denoising algorithms. Researchers studying traits associated with motion (e.g. psychiatric disorders) need to know if their trait-FC relationships are impacted by residual motion to avoid reporting false positive results. We devised Split Half Analysis of Motion Associated Networks (SHAMAN) to assign a motion impact score to specific trait-FC relationships. SHAMAN distinguishes between motion causing overestimation or underestimation of trait-FC effects. We assessed 45 traits from n = 7270 participants in the Adolescent Brain Cognitive Development (ABCD) Study. After standard denoising with ABCD-BIDS and without …

Buprenorphine/Naloxone Therapy For Opioid Withdrawal, Medication-Assisted Treatment, And Pain Management In An Adolescent Patient, Sindhu H. Manjunath, Michael Spickler, Annas Aljassem

Conference Presentation Abstracts

Introduction: Opioid addiction is a chronic disorder centered around craving and compulsive use of prescription or non-medical opioids. The last three decades have seen a dramatic increase in opioid use order (OUD) in the United States, with about 87,000 adolescents in the 12–17 age group estimated to have OUD in 2019. Less than 10% receive medication-assisted treatment (MAT). We present a case of a 17-year-old male who received treatment with buprenorphine-naloxone (Suboxone) for withdrawal management, MAT and acute pain.

Case Description: A 17-year-old-male with a history of anxiety, depression, and attention deficit/hyperactivity disorder (ADHD) presented to the emergency department (ED) …

Toward A Clinically Actionable, Electronic Health Record-Based Machine Learning Model To Forecast 90-Day Change In Hemoglobin A1c In Youth With Type 1 Diabetes: Feasibility And Model Development Study, Erin M. Tallon, David D. Williams, Cintya Schweisberger, Colin Mullaney, Brent Lockee, Diana Ferro, Craig Vandervelden, Mitchell S. Barnes, Angelica Cristello Sarteau, Anna R. Kahkoska, Susana R. Patton, Sanjeev Mehta, Ryan Mcdonough, Marcus Lind, Leonard D'Avolio, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Clinicians currently lack an effective means for identifying youth with type 1 diabetes (T1D) who are at risk for experiencing glycemic deterioration between diabetes clinic visits. As a result, their ability to identify youth who may optimally benefit from targeted interventions designed to address rising glycemic levels is limited. Although electronic health records (EHR)-based risk predictions have been used to forecast health outcomes in T1D, no study has investigated the potential for using EHR data to identify youth with T1D who will experience a clinically significant rise in glycated hemoglobin (HbA1c) ≥0.3% (approximately 3 mmol/mol) between diabetes clinic visits. …

Associations Between Adhering To 24-Hour Movement Guidelines And Anxiety Among Adolescents Across Intersectional Identities: Kyrbs 2020-2022., Suryeon Ryu, Eun Young Lee, Zan Gao

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Identifying preventive measures for adolescent mental health is a global public health priority, as poor mental health heightens the risk of early death from related issues, including suicide. This study examined the associations between adherence to the 24-Hour Movement Guidelines and anxiety among a nationally representative sample of South Korean adolescents, using an intersectional identity framework.

METHODS: Data from the 2020-2022 Korea Youth Risk Behavior Surveys were analyzed. Adolescents aged 12-17 years were grouped based on adherence to guidelines: none, physical activity (PA), sedentary behavior (SB), sleep, two guideline combinations, and all three. Anxiety was the mental health outcome. …

Physical Activity, Screen Time, Dietary Habits, And Health Outcomes Among Children And Adolescents In The Middle East And North Africa Region: A Narrative Review, Shaikha Eisa Alnaqbi, Rahab Sohail, Hadia M. Radwan, Maysm N. Mohamad, Falak Zeb, Haydar Hasan, Mona Hashim, Tareq Osaili, Sharifa Alblooshi, Ayesha S. Al Dhaheri, Lily Stojanovska, Leila Cheikh Ismail

All Works

Background/objectives: Fat mass and obesity associated (FTO) gene and anthropometric measurements might be associated with breast cancer (BC) risk. This study aimed to assess the interactions between single nucleotide polymorphism (SNP) rs9939609 of the FTO gene, anthropometric indices, and BC risk among pre- and post-menopause women with overweight/obesity in Pakistan. Methods: This retrospective case–control study conducted on a convenience sample of 200 women divided into two groups: a case group comprised of 100 women diagnosed with BC, and control group comprised of 100 (age and menopausal status matched healthy women). Physical activity was assessed using validated questionnaire. Data on body …

Antiviral Use Among Children Hospitalized With Laboratory-Confirmed Influenza Illness: A Prospective, Multicenter Surveillance Study., James W. Antoon, Justin Z. Amarin, Olla Hamdan, Tess Stopczynski, Laura S. Stewart, Marian G. Michaels, John V. Williams, Eileen J. Klein, Janet A. Englund, Geoffrey A. Weinberg, Peter G. Szilagyi, Jennifer E. Schuster, Rangaraj Selvarangan, Christopher J. Harrison, Julie A. Boom, Leila C. Sahni, Flor M. Muñoz, Mary Allen Staat, Elizabeth P. Schlaudecker, James D. Chappell, Benjamin R. Clopper, Heidi L. Moline, Angela P. Campbell, Andrew J. Spieker, Samantha M. Olson, Natasha B. Halasa

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Guidelines state that all hospitalized children with suspected or confirmed influenza receive prompt treatment with influenza-specific antivirals. We sought to determine the frequency of, and factors associated with, antiviral receipt among hospitalized children.

METHODS: We conducted active surveillance of children presenting with fever or respiratory symptoms from 1 December 2016 to 31 March 2020 at 7 pediatric medical centers in the New Vaccine Surveillance Network. The cohort consisted of children hospitalized with influenza A or B confirmed by clinical or research testing. The primary outcome was frequency of antiviral receipt during hospitalization. We used logistic regression to obtain adjusted …

Association Between Climate Change Awareness And Depression & Anxiety: Findings From A U.S. Sample, Stanley Nkemjika, Colvette Brown, Henry Onyeaka, Srikanta Banerjee, Jennifer Oliphant

Department of Psychiatry and Human Behavior Faculty Papers

BACKGROUND: Exploring the connection between climate change awareness and overall well-being is crucial, particularly in how it impacts both the environment and mental health. The mental health consequences of climate change and its awareness have not been thoroughly examined, especially in the U.S. In this study, the relationship between awareness of climate change and depression or anxiety among U.S. adults was explored. Similarly, the role of climate change awareness has not been explored in relation to mental health concerns.

METHODS: Based on the HINTS-6 dataset, a nationally representative, cross-sectional survey conducted by the National Cancer Institute, a variety of statistical …

Evaluation Of In Vivo Car Transgene Levels In Tisagenlecleucel-Treated Patients With Relapsed/Refractory B-All And Dlbcl., Rakesh Awasthi, Stephan A. Grupp, Edward R. Waldron, Gregory A. Yanik, Constantine S. Tam, Susana Rives, Joseph P. Mcguirk, Michael A. Pulsipher, Ulrich Jaeger, Douglas Myers, Peter Borchmann, Stephen J. Schuster, Heather E. Stefanski, Michael R. Bishop, Abhijit Chakraborty, Aisha Masood, André Baruchel, Edmund K. Waller

Manuscripts, Articles, Book Chapters and Other Papers

Tisagenlecleucel is a CD19-directed autologous chimeric antigen receptor (CAR) T-cell therapy. Quantitative polymerase chain reaction assays are highly sensitive in defining in vivo kinetics by measuring CAR transgene in peripheral blood. This study aimed to identify clinically meaningful CAR T-cell blood levels that correlated with response/relapse. In pediatric/young adult patients with relapsed/refractory (R/R) B-cell acute lymphoblastic leukemia (B-ALL), maximum CAR T-cell blood levels were higher in patients with ongoing complete remission and in patients with CD19- relapse relative to those with CD19+ relapse. In adult patients with R/R diffuse large B-cell lymphoma (DLBCL), no apparent association between in vivo kinetics …

Co-Occurrence Of Congenital Anomalies And Childhood Brain Tumors In 22 Million Live Births, Thanh T Hoang, Jeremy M Schraw, Charles Shumate, Tania A Desrosiers, Wendy N Nembhard, Mahsa Yazdy, Eirini Nestoridi, Amanda E Janitz, Russell S Kirby, Jason L Salemi, Jean Paul Tanner, Tiffany M Chambers, Michael D Taylor, Chad D Huff, Sharon E Plon, Philip J Lupo, Michael E Scheurer

Faculty, Staff and Students Publications

Background: Children born with a congenital anomaly have a higher risk of developing a brain tumor during childhood or adolescence, but the co-occurrence between specific types of congenital anomalies and specific types of childhood brain tumors (CBTs) is not well described. This study characterized the associations between specific congenital anomalies and CBTs.

Methods: We leveraged a population-based registry linkage study of births (1990-2018), congenital anomalies, and cancer from 9 states (n = 22,599,099 births). Congenital anomalies were classified as major structural without a known chromosomal or genetic syndrome, chromosomal, neurofibromatosis, and/or tuberous sclerosis complex. CBT classification was based on the …

An Evolutionary Preamble Towards A Multilevel Framework To Understand Adolescent Mental Health: An International Delphi Study, Federica Sancassiani, Vanessa Barrui, Fabrizio Bert, Sara Carucci, Fatma Charfi, Giulia Cossu, Arne Holte, Jutta Lindert, Simone Marchini, Alessandra Perra, Samantha Pinna, Antonio Egidio Nardi, Alessandra Scano, Cesar A Soutullo, Massimo Tusconi, Diego Primavera

Faculty, Staff and Student Publications

Background/objectives: Adolescence is a sensitive developmental window shaped by both vulnerabilities and adaptive potential. From an evolutionary standpoint, mental health difficulties in this period may represent functional responses to environmental stressors rather than mere dysfunctions. Despite increasing interest, integrative models capturing the dynamic interplay of risk and protective factors in adolescent mental health remain limited. This study presents a holistic, multi-level framework grounded in ecological and evolutionary theories to improve understanding and intervention strategies.

Methods: A two-round Delphi method was used to develop and validate the framework. Twelve experts in adolescent mental health evaluated a preliminary draft derived from the …

Risk Of Clonal Hematopoiesis In Families Exposed To Radiation Following The Chornobyl Accident, Mitchell J Machiela, Irenaeus Chan, Kelly Bolton, Et Al.

2020-Current year OA Pubs

Radiation exposure is a well-established risk factor for leukemia. Clonal hematopoiesis (CH), the expansion of mutated hematopoietic cells, is also associated with increased leukemia risk and its frequency is higher in cancer patients following radiotherapy and chemotherapy. We investigated whether low to moderate environmental ionizing radiation determined by state-of-the-art dosimetric analysis was associated with CH in the Chornobyl Family Study (CFS). Our study conducted targeted high-depth sequencing and array genotyping to identify and characterize clonal hematopoiesis of indeterminate potential (CHIP) and mosaic chromosomal alterations (mCAs) in 882 participants from 292 CFS families. Fathers had mean bone marrow radiation doses of …

Scenario Projections Of Covid-19 Burden In The Us, 2024-2025, Sara L Loo, Sung-Mok Jung, Lucie Contamin, Emily Howerton, Samantha J Bents, Harry Hochheiser, Michael C Runge, Claire P Smith, Erica C Carcelén, Katie Yan, Joseph C Lemaitre, Emily Przykucki, Clifton D Mckee, Koji Sato, Allison L Hill, Matteo Chinazzi, Jessica T Davis, Clara Bay, Alessandro Vespignani, Shi Chen, Rajib Paul, Daniel Janies, Jean-Claude Thill, Sean M Moore, T Alex Perkins, Ajitesh Srivastava, Majd Al Aawar, Kaiming Bi, Shraddha Ramdas Bandekar, Anass Bouchnita, Spencer J Fox, Lauren Ancel Meyers, Przemyslaw Porebski, Srinivasan Venkatramanan, Bryan Lewis, Jiangzhuo Chen, Madhav Marathe, Michal Ben-Nun, James Turtle, Pete Riley, Katriona Shea, Cécile Viboud, Justin Lessler, Shaun Truelove

Faculty, Staff and Student Publications

Importance: COVID-19 remains a disease with high burden in the US, prompting continued debate about optimal targets for annual vaccination.

Objective: To project COVID-19 burden in the US for April 2024 to April 2025 under 6 scenarios of immune escape (20% and 50% per year) and levels of vaccine recommendation (no recommendation, vaccination for individuals at high risk only, vaccination for all eligible groups) and to assess the potential benefit of vaccine recommendations in reducing disease burden.

Design, setting, and participants: For this decision analytical model, the US Scenario Modeling Hub, a collaborative modeling effort, convened 9 teams to provide …

Trends In Radiation Use From 2004 To 2020 Among Adolescents And Young Adults With Hodgkin Lymphoma, Kelsey L Corrigan, Amy M Berkman, Jillian Gunther, Clark R Andersen, Susan Wu, Amber Gibson, Branko Cuglievan, Miriam B Garcia, Gohar Manzar, Penny Fang, Brian De, Sairah Ahmed, Cesar Nunez, Michelle A T Hildebrandt, David C Mccall, Susan K Parsons, Michael E Roth

Faculty, Staff and Student Publications

Background: Hodgkin lymphoma has excellent survival rates in adolescents and young adults (AYA, diagnosed between ages 15 and 39 years). However, survivors are at risk of treatment-related late effects. Whereas radiotherapy (RT) de-escalation/omission has emerged as an approach to minimize late effects, no prior studies have evaluated RT use over time in AYAs with Hodgkin lymphoma.

Methods: Using the National Cancer Database, we identified 40,717 AYAs diagnosed with Hodgkin lymphoma between 2004 and 2020. Differences in sociodemographic and clinical variables were assessed using a two-sample two-sided t test or χ2 test. RT use was summarized per year by frequency with …

Clinical Testing For Covid-19, Influenza, And Rsv In Hospitalized Youths, 2016-2024., Ariana P. Toepfer, Rachel E. Rutkowski, Leila C. Sahni, Geoffrey A. Weinberg, Marian G. Michaels, Rangaraj Selvarangan, Mary Allen Staat, Natasha Halasa, Janet A. Englund, Julie A. Boom, Peter G. Szilagyi, Jennifer E. Schuster, Elizabeth P P. Schlaudecker, Laura S. Stewart, Eileen J. Klein, Samantha M. Olson, Sascha Ellington, Meredith L. Mcmorrow, Heidi L. Moline, Fatimah S. Dawood, New Vaccine Surveillance Network Collaborators

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Studies of COVID-19, influenza, and respiratory syncytial virus (RSV) disease clinical epidemiology, disease burden, and vaccine effectiveness often rely on clinical testing to identify cases, particularly with increasing use of electronic health record data. However, few data are available describing clinical testing practices to inform interpretation of these studies.

OBJECTIVE: To characterize clinical testing frequency for SARS-CoV-2, influenza, and RSV among children and adolescents hospitalized with acute respiratory illness during the 2016 to 2024 respiratory illness seasons by age, intensive care unit admission, and time period (2016-2020 and each season in 2020-2024); estimate the case fraction missed by clinical …

Mepolizumab Alters Gene Regulatory Networks Of Nasal Airway Type-2 And Epithelial Inflammation In Urban Children With Asthma, Courtney L Gaberino, Michelle A Gill, Jeffrey Stokes, Et Al.

2020-Current year OA Pubs

Mepolizumab (anti-IL5 therapy) reduces asthma exacerbations in urban children with exacerbation-prone eosinophilic asthma. We previously utilized nasal transcriptomics to identify inflammatory pathways (gene co-expression modules) associated with asthma exacerbations despite this therapy. In this study, we applied differential gene correlation analysis on these targeted gene co-expression modules to gain better insight into the treatment effects on correlation structure within gene networks. Mepolizumab treatment resulted in loss of correlation amongst eosinophil-specific genes but conservation and even strengthening of correlation amongst mast cell-specific genes, T2 cytokines, and airway epithelial inflammatory genes. Notably, mepolizumab induced significant gain in correlation of genes associated with …

De Novo Pathogenic Csf1r Variant Implicates Microglial Dysfunction In Pathogenesis Of Febrile Infection-Related Epilepsy Syndrome, Kristen S Fisher, Jesse M Levine, Alexander Ankar, Ruizhi Duan, Yi Chen Lai, Eyal Muscal, Sarah R Risen, James J Riviello, Pei-Chien Tsai, Daniel G Calame

Faculty, Staff and Students Publications

Febrile infection-related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus following a febrile illness with resulting refractory epilepsy. Evidence supports the presence of immune dysregulation in patients with FIRES, but a monogenic basis for FIRES has not been identified in most cases. We present a case of a previously healthy 16-year-old male with FIRES who was found to have a de novo predicted damaging missense variant in CSF1R on clinical whole genome sequencing, a gene encoding a critical regulator of microglial homeostasis in which pathogenic variants cause adult onset leukoencephalopathy. Molecular modeling demonstrates that the CSF1R variant …

Intracranial Rhizomucor Pusillus Mucormycosis In An Adolescent Triggering A Stroke Alert: A Case Report And A Systematic Review Of Pediatric Cases, Rima El Atrache, Melissa Mizerik, Joaquin Francisco Ruiz Lopez, Eric Engstrom, Karla Patricia Salazar, Mikael C Guzman-Karlsson, Daniel Davila-Williams, Sonali Sen, Kristen S Fisher, Jennifer C Erklauer

Faculty, Staff and Students Publications

Mucormycosis is a rare, life-threatening opportunistic infection primarily affecting immunocompromised patients. The available literature on Rhizomucor pusillus (R pusillus) infections of the central nervous system (CNS) in children is very limited. We present the case of an immunocompromised adolescent with intracranial mucormycosis due to R pusillus manifesting with stroke-like symptoms. This case highlights this rare condition's diagnostic complexity and management challenges. We include a review of the available literature on pediatric R pusillus CNS infections to increase awareness among health care providers.

Utilization Of Outpatient Mental Health Services During And 2 Years After The Covid-19 Pandemic, Michelle A Hayek, Hye-Chung Kum, Sulki Park, Robert Ohsfeldt, Mark A Lawley, Michelle J Bovin

The Brown Foundation: Institute of Molecular Medicine

Objective: Analyze the impact of COVID-19 on outpatient mental health (OP-MH) utilization patterns, particularly telehealth, across eight different MH conditions with a 2-year follow-up.

Methods: This population-based cohort study uses a 5% random sample of Medicare beneficiaries aged ≥18 and newly diagnosed with one of the eight MH disorders: psychotic, depressive, bipolar, anxiety, trauma-related, substance-use, other MH disorders, and two or more MH disorders. Monthly OP-MH utilization patterns were compared among patients in 2020-2021 newly diagnosed in 2019 to comparable prepandemic cohorts newly diagnosed in 2017. Multiple logistic regression models were conducted to examine differences in telehealth utilization across MH …

Polygenic Prediction Of Body Mass Index And Obesity Through The Life Course And Across Ancestries, Roelof A J Smit, Kaitlin H Wade, Qin Hui, Joshua D Arias, Xianyong Yin, Malene R Christiansen, Loic Yengo, Michael H Preuss, Mariam Nakabuye, Ghislain Rocheleau, Sarah E Graham, Victoria L Buchanan, Geetha Chittoor, Marielisa Graff, Marta Guindo-Martínez, Yingchang Lu, Eirini Marouli, Saori Sakaue, Cassandra N Spracklen, Sailaja Vedantam, Emma P Wilson, Shyh-Huei Chen, Teresa Ferreira, Yingjie Ji, Tugce Karaderi, Kreete Lüll, Moara Machado, Deborah E Malden, Carolina Medina-Gomez, Amy Moore, Sina Rüeger, Masato Akiyama, Matthew A Allison, Marcus Alvarez, Mette K Andersen, Vivek Appadurai, Liubov Arbeeva, Eric Bartell, Seema Bhaskar, Lawrence F Bielak, Joshua C Bis, Sailalitha Bollepalli, Jette Bork-Jensen, Jonathan P Bradfield, Yuki Bradford, Caroline Brandl, Peter S Braund, Jennifer A Brody, Ulrich Broeckel, Kristoffer S Burgdorf, Brian E Cade, Qiuyin Cai, Silvia Camarda, Archie Campbell, Marisa Cañadas-Garre, Jin-Fang Chai, Alessandra Chesi, Seung Hoan Choi, Paraskevi Christofidou, Christian Couture, Gabriel Cuellar-Partida, Rebecca Danning, Frauke Degenhardt, Graciela E Delgado, Alessandro Delitala, Ayşe Demirkan, Xuan Deng, Alexander Dietl, Maria Dimitriou, Latchezar Dimitrov, Rajkumar Dorajoo, Fabian Eichelmann, Anders U Eliasen, Jorgen E Engmann, Michael R Erdos, Zammy Fairhurst-Hunter, Aliki-Eleni Farmaki, Jessica D Faul, Juan-Carlos Fernandez-Lopez, Lukas Forer, Mirjam Frank, Sandra Freitag-Wolf, Lars G Fritsche, Christian Fuchsberger, Tessel E Galesloot, Yan Gao, Frank Geller, Olga Giannakopoulou, Franco Giulianini, Anette P Gjesing, Anuj Goel, Scott D Gordon, Mathias Gorski, Jakob Grove, Xiuqing Guo, Stefan Gustafsson, Jeffrey Haessler, Thomas F Hansen, Aki S Havulinna, Simon J Haworth, Nancy Heard-Costa, Daiane Hemerich, Heather M Highland, George Hindy, Yuk-Lam Ho, Edith Hofer, Elizabeth Holliday, Katrin Horn, Whitney E Hornsby, Jouke-Jan Hottenga, Hongyan Huang, Jie Huang, Alicia Huerta-Chagoya, Shaofeng Huo, Mi Yeong Hwang, Chii-Min Hwu, Hiroyuki Iha, Daisuke D Ikeda, Masato Isono, Anne U Jackson, Iris E Jansen, Yunxuan Jiang, Ingegerd Johansson, Anna Jonsson, Torben Jørgensen, Ioanna P Kalafati, Masahiro Kanai, Stavroula Kanoni, Line L Kårhus, Anuradhani Kasturiratne, Tomohiro Katsuya, Takahisa Kawaguchi, Rachel L Kember, Katherine A Kentistou, Daeeun Kim, Han-Na Kim, Young Jin Kim, Marcus E Kleber, Maria J Knol, Azra Kurbasic, Marie Lauzon, Phuong Le, Rodney Lea, Jong-Young Lee, Wen-Jane Lee, Hampton L Leonard, Hengtong Li, Shengchao A Li, Xiaohui Li, Xiaoyin Li, Jingjing Liang, Honghuang Lin, Kuang Lin, Jun Liu, Xueping Liu, Ken Sin Lo, Jirong Long, Laura Lores-Motta, Jian'an Luan, Valeriya Lyssenko, Leo-Pekka Lyytikäinen, Anubha Mahajan, Md Zubbair Malik, Vasiliki Mamakou, Massimo Mangino, Ani Manichaikul, Jonathan Marten, Manuel Mattheisen, Aaron F Mcdaid, Quanshun Mei, Heike Meiselbach, Tori L Melendez, Yuri Milaneschi, Jason E Miller, Iona Y Millwood, Pashupati P Mishra, Ruth E Mitchell, Line T Møllehave, Nina Mononen, Sören Mucha, Matthias Munz, Juha Mykkänen, Masahiro Nakatochi, Giuseppe Giovanni Nardone, Christopher P Nelson, Maria Nethander, Chu Won Nho, Aneta A Nielsen, Ilja M Nolte, Suraj S Nongmaithem, Raymond Noordam, Ioanna Ntalla, Teresa Nutile, Anita Pandit, Marc Pauper, Eva R B Petersen, Liselotte V Petersen, Francesco Piluso, Ozren Polašek, Alaitz Poveda, Saiju Pyarajan, Laura M Raffield, Hiromi Rakugi, Julia Ramirez, Asif Rasheed, Dennis Raven, Nigel W Rayner, Carlos Riveros, Rebecca Rohde, Daniela Ruggiero, Sanni E Ruotsalainen, Kathleen A Ryan, Maria Sabater-Lleal, Aurora Santin, Richa Saxena, Markus Scholz, Botong Shen, Jingchunzi Shi, Jae Hun Shin, Carlo Sidore, Julia Sidorenko, Xueling Sim, Roderick C Slieker, Albert V Smith, Jennifer A Smith, Laura J Smyth, Lorraine Southam, Valgerdur Steinthorsdottir, Liang Sun, Fumihiko Takeuchi, Kent D Taylor, Bamidele O Tayo, Catherine Tcheandjieu, Natalie Terzikhan, Paola Tesolin, Alexander Teumer, Elizabeth Theusch, Deborah J Thompson, Gudmar Thorleifsson, Paul R H J Timmers, Stella Trompet, Constance Turman, Simona Vaccargiu, Sander W Van Der Laan, Peter J Van Der Most, Jan B Van Klinken, Jessica Van Setten, Shefali S Verma, Niek Verweij, Yogasudha Veturi, Carol A Wang, Chaolong Wang, Jun-Sing Wang, Lihua Wang, Ya Xing Wang, Zhe Wang, Helen R Warren, Wen Bin Wei, Wanqing Wen, William A Wheeler, Ananda R Wickremasinghe, Matthias Wielscher, Bendik S Winsvold, Andrew Wong, Matthias Wuttke, Rui Xia, Ken Yamamoto, Jingyun Yang, Jie Yao, Hannah Young, Noha A Yousri, Lei Yu, Lingyao Zeng, Weihua Zhang, Xinyuan Zhang, Jing-Hua Zhao, Wei Zhao, Wei Zhou, Martina E Zimmermann, Magdalena Zoledziewska, Leen M 'T Hart, Linda S Adair, Hieab H H Adams, Carlos A Aguilar-Salinas, Fahd Al-Mulla, Donna K Arnett, Folkert W Asselbergs, Bjørn Olav Åsvold, John Attia, Bernhard Banas, Stefania Bandinelli, Lawrence J Beilin, David A Bennett, Tobias Bergler, Dwaipayan Bharadwaj, Ginevra Biino, Eric Boerwinkle, Carsten A Böger, Judith B Borja, Claude Bouchard, Donald W Bowden, Ivan Brandslund, Ben Brumpton, Julie E Buring, Mark J Caulfield, John C Chambers, Giriraj R Chandak, Stephen J Chanock, Nish Chaturvedi, Yii-Der Ida Chen, Zhengming Chen, Ching-Yu Cheng, Yoon Shin Cho, Kaare Christensen, Ingrid E Christophersen, Marina Ciullo, John W Cole, Francis S Collins, Maria Pina Concas, Richard S Cooper, Miguel Cruz, Francesco Cucca, Michael J Cutler, Scott M Damrauer, Thomas M Dantoft, Gert J De Borst, Eco J C De Geus, Lisette C P G M De Groot, Philip L De Jager, Dominique P V De Kleijn, H Janaka De Silva, George V Dedoussis, Anneke I Den Hollander, Shufa Du, Douglas F Easton, Kai-Uwe Eckardt, Petra J M Elders, A Heather Eliassen, Patrick T Ellinor, Sölve Elmståhl, Jeanette Erdmann, Michele K Evans, Diane Fatkin, Bjarke Feenstra, Mary F Feitosa, Luigi Ferrucci, Jose C Florez, Ian Ford, Myriam Fornage, Andre Franke, Paul W Franks, Barry I Freedman, Christian Gieger, Giorgia Girotto, Yvonne M Golightly, Clicerio Gonzalez-Villalpando, Penny Gordon-Larsen, Harald Grallert, Struan F A Grant, Niels Grarup, Lyn Griffiths, Vilmundur Gudnason, Christopher Haiman, Hakon Hakonarson, Torben Hansen, Catharina A Hartman, Andrew T Hattersley, Caroline Hayward, Iris M Heid, Chew-Kiat Heng, Christian Hengstenberg, Karl-Heinz Herzig, Alex W Hewitt, Haretsugu Hishigaki, David M Hougaard, Carel B Hoyng, Paul L Huang, Wei Huang, Wen-Yi Huang, Jennifer E Huffman, Steven C Hunt, Nina Hutri, Kristian Hveem, Elina Hyppönen, William G Iacono, Sahoko Ichihara, M Arfan Ikram, Carmen R Isasi, Marjo-Riitta Jarvelin, Zi-Bing Jin, Karl-Heinz Jöckel, Jost B Jonas, Peter K Joshi, Pekka Jousilahti, J Wouter Jukema, Mika Kähönen, Yoichiro Kamatani, Kui Dong Kang, Jaakko Kaprio, Sharon L R Kardia, Fredrik Karpe, Norihiro Kato, Maryam Kavousi, Frank Kee, Thorsten Kessler, Amit V Khera, Chiea Chuen Khor, Lambertus A L M Kiemeney, Bong-Jo Kim, Eung Kweon Kim, Hyung-Lae Kim, Paulus Kirchhof, Mika Kivimaki, Woon-Puay Koh, Heikki A Koistinen, Alexander Kokkinos, Jaspal S Kooner, Charles Kooperberg, Peter Kovacs, Adriaan Kraaijeveld, Peter Kraft, Ronald M Krauss, Meena Kumari, Zoltan Kutalik, Markku Laakso, Leslie A Lange, Claudia Langenberg, Lenore J Launer, Hyejin Lee, Nanette R Lee, Terho Lehtimäki, Rozenn N Lemaitre, Huaixing Li, Liming Li, Wolfgang Lieb, Xu Lin, Lars Lind, Allan Linneberg, Ching-Ti Liu, Jianjun Liu, Markus Loeffler, Barry London, Fan Lu, Steven A Lubitz, David A Mackey, Patrik K E Magnusson, Joann E Manson, Gregory M Marcus, Pedro Marques Vidal, Nicholas G Martin, Winfried März, Fumihiko Matsuda, Mark I Mccarthy, Robert W Mcgarrah, Matt Mcgue, Amy Jayne Mcknight, Sarah E Medland, Dan Mellström, Andres Metspalu, Braxton D Mitchell, Paul Mitchell, Dennis O Mook-Kanamori, Trevor A Mori, Andrew D Morris, Lorelei A Mucci, Patricia B Munroe, Mike A Nalls, Saman Nazarian, Amanda E Nelson, Matt J Neville, Christopher Newton-Cheh, Christopher S Nielsen, Harri Niinikoski, Kjell Nikus, Markus M Nöthen, Adesola Ogunniyi, Claes Ohlsson, Albertine J Oldehinkel, Lorena Orozco, Katja Pahkala, Päivi Pajukanta, Colin N A Palmer, Esteban J Parra, Cristian Pattaro, Oluf Pedersen, Craig E Pennell, Brenda W J H Penninx, Louis Perusse, Annette Peters, Patricia A Peyser, David J Porteous, Danielle Posthuma, Chris Power, Peter P Pramstaller, Michael A Province, Bruce M Psaty, Qibin Qi, Jia Qu, Daniel J Rader, Olli T Raitakari, Loukianos S Rallidis, Dabeeru C Rao, Susan Redline, Dermot F Reilly, Alexander P Reiner, Sang Youl Rhee, Paul M Ridker, Michiel Rienstra, Samuli Ripatti, Marylyn D Ritchie, Fernando Rivadeneira, Dan M Roden, Frits R Rosendaal, Jerome I Rotter, Igor Rudan, Femke Rutters, Seungho Ryu, Charumathi Sabanayagam, Babatunde Salako, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Dharambir K Sanghera, Naveed Sattar, Börge Schmidt, Helena Schmidt, Reinhold Schmidt, Matthias B Schulze, Heribert Schunkert, Laura J Scott, Rodney J Scott, Peter Sever, Wayne H H Sheu, M Benjamin Shoemaker, Xiao-Ou Shu, Eleanor M Simonsick, Mario Sims, Andrew B Singleton, Moritz F Sinner, J Gustav Smith, Harold Snieder, Tim D Spector, Beatrice Spedicati, Meir J Stampfer, Klaus J Stark, David P Strachan, Yasuharu Tabara, E Shyong Tai, Hua Tang, Jean-Claude Tardif, Thangavel A Thanaraj, Anke Tönjes, Tiinamaija Tuomi, Jaakko Tuomilehto, Maria-Teresa Tusié-Luna, Rob M Van Dam, Pim Van Der Harst, Nathalie Van Der Velde, Cornelia M Van Duijn, Natasja M Van Schoor, Veronique Vitart, Marie-Claude Vohl, Uwe Völker, Peter Vollenweider, Henry Völzke, Scott Vrieze, Niels H Wacher-Rodarte, Mark Walker, Gurpreet S Wander, Nicholas J Wareham, Richard M Watanabe, Hugh Watkins, David R Weir, Thomas M Werge, Elisabeth Widen, Gonneke Willemsen, Walter C Willett, James F Wilson, Peter W F Wilson, Tien Y Wong, Jeong-Taek Woo, Alan F Wright, Huichun Xu, Chittaranjan S Yajnik, Jian Yang, Mitsuhiro Yokota, Jian-Min Yuan, Eleftheria Zeggini, Babette S Zemel, Wei Zheng, Xiaofeng Zhu, M Carola Zillikens, Alan B Zonderman, John-Anker Zwart, Goncalo R Abecasis, Themistocles L Assimes, Adam Auton, Michael Boehnke, Daniel I Chasman, Tõnu Esko, Kari Stefansson, Guillaume Lettre, Cecilia M Lindgren, Maggie C Y Ng, Christopher J O'Donnell, Unnur Thorsteinsdottir, Peter M Visscher, Robin G Walters, Thomas W Winkler, Andrew R Wood, Panos Deloukas, Timothy M Frayling, Anne E Justice, Tuomas O Kilpeläinen, Adam E Locke, Karen L Mohlke, Kari E North, Yukinori Okada, Cristen J Willer, Kristin L Young, Segun Fatumo, Jeanne M Mccaffery, Nicholas J Timpson, Joel N Hirschhorn, Yan V Sun, Sonja I Berndt, Ruth J F Loos

Faculty, Staff and Student Publications

Polygenic scores (PGSs) for body mass index (BMI) may guide early prevention and targeted treatment of obesity. Using genetic data from up to 5.1 million people (4.6% African ancestry, 14.4% American ancestry, 8.4% East Asian ancestry, 71.1% European ancestry and 1.5% South Asian ancestry) from the GIANT consortium and 23andMe, Inc., we developed ancestry-specific and multi-ancestry PGSs. The multi-ancestry score explained 17.6% of BMI variation among UK Biobank participants of European ancestry. For other populations, this ranged from 16% in East Asian-Americans to 2.2% in rural Ugandans. In the ALSPAC study, children with higher PGSs showed accelerated BMI gain from …

Parent Needs, Recommendations, And Systemic Challenges Affecting Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Samuel Gidding, Varsha Zadokar, Jonathan M. Miller, Anne E Kazak

Department of Pediatrics Faculty Papers

Pediatric hypertension (HTN) affects 3%-5% of children in the United States, yet only 25% are diagnosed and 60% lack recommended follow-up care. Skepticism about elevated blood pressure (BP) readings and reluctance to use antihypertensive medications by parents and clinicians highlight the need for stakeholder-informed strategies to address these challenges. This study examined parents' perceived needs, their recommended strategies to improve HTN detection, and contextual health system challenges. Parents and clinicians from 10 pediatric primary care clinics participated in semi-structured qualitative interviews. Only parents of children with documented stage 2 BP readings and a HTN diagnosis, but with gaps in care …

"My Child Needs A Chance And A Choice To Talk About Their Pain": Parents' Experiences And Perspectives Of Pain Communication In Paediatric Rheumatology., Rebecca R. Lee, Jade Edwards, Danielle C. Mountain, Janet E. Mcdonagh, Mark Connelly, Tonya Palermo, Sarah Peters

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To investigate parents' experiences and perspectives about pain communication with healthcare professionals in paediatric rheumatology.

METHODS: Data were collected using semi-structured telephone interviews with parents of children/adolescents recruited from three UK tertiary paediatric rheumatology centres. A framework analysis was used to characterise parents' experiences and perspectives.

RESULTS: Eighteen parents participated. Their children had a median age of 13 years (SD= 3.16 years, Range= 6-16 years, 55 % male), with diagnoses of chronic primary pain (e.g. Ehlers Danlos syndrome/Hypermobility) and chronic secondary pain (e.g. Juvenile Idiopathic Arthritis). Data were organised into four themes: 1) Parents' active role in pain communication, …