Medicine and Health Sciences Commons^™

Müllerian-Type Clear Cell Carcinoma Of Donor Origin In A Male Patient With A Kidney Transplant: Ascertained By Molecular Testing, J Bryan Iorgulescu, Leah K Shaw, Asif Rashid, Priya Rao, Sreedhar Mandayam, Keyur P Patel, Kathleen M Schmeler, Richard K Yang, Pavlos Msaouel

Faculty, Staff and Student Publications

Clear cell carcinomas of Müllerian origin have a strong female predominance and only extremely rarely will arise within the kidney, presumably due to ectopic Müllerian embryogenesis. Herein, we report a unique case of metastatic Müllerian type clear cell carcinoma in a 37-year-old patient who had previously received a transplanted kidney from his father at age 11 (due to severe bilateral vesicoureteral reflux) and remained on chronic immunosuppression. The tumor was highly aggressive and demonstrated somatic mutations in NF2 and SETD2. Imaging of the transplanted kidney did not reveal any clear evidence of malignancy. However, targeted multigene sequencing and short tandem …

In-Utero Exposure To Antibiotics And Risk Of Colorectal Cancer In A Prospective Cohort Of 18 000 Adult Offspring, Caitlin C Murphy, Piera M Cirillo, Nickilou Y Krigbaum, Amit G Singal, Dean P Jones, Timothy Zaki, Barbara A Cohn

Faculty, Staff and Student Publications

BACKGROUND: Incidence rates of colorectal cancer (CRC) are increasing among younger adults and in mid-life, implicating exposures in early life as risk factors. We examined the association between in-utero exposure to antibiotics and risk of CRC in adult offspring.

METHODS: The Child Health and Development Studies is a prospective cohort of women receiving prenatal care between 1959 and 1966 in Oakland, California, with deliveries through June 1967. Diagnosed conditions and all prescribed medications were abstracted from mothers' medical records beginning 6 months prior to pregnancy through delivery. We identified mothers who received antibiotics in pregnancy, including penicillins, tetracyclines, short-acting sulfonamides …

Relationship Between Epa Level Of Supervision With Their Associated Subcompetency Milestone Levels In Pediatric Fellow Assessment., Richard B. Mink, Carol L. Carraccio, Bruce E. Herman, Pnina Weiss, David A. Turner, Diane E J Stafford, Kathleen A. Mcgann, Jennifer Kesselheim, Deborah C. Hsu, Pamela C. High, Jill J. Fussell, Megan L. Curran, Patricia R. Chess, Cary Sauer, Sarah Pitts, Angela Myers, John D. Mahan, Christiane E L Dammann, Tandy Aye, Alan Schwartz, Subspecialty Pediatrics Investigator Network

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Entrustable Professional Activities (EPA) and competencies represent components of a competency-based education framework. EPAs are assessed based on the level of supervision (LOS) necessary to perform the activity safely and effectively. The broad competencies, broken down into narrower subcompetencies, are assessed using milestones, observable behaviors of one's abilities along a developmental spectrum. Integration of the two methods, accomplished by mapping the most relevant subcompetencies to each EPA, may provide a cross check between the two forms of assessment and uncover those subcompetencies that have the greatest influence on the EPA assessment.

OBJECTIVES: We hypothesized that 1) there would be …

Quality Of Life In Male Breast Cancer: Prospective Study Of The International Male Breast Cancer Program (Eortc10085/Tbcrc029/Big2-07/Nabcg), Carolien P Schröder, Elise Van Leeuwen-Stok, Fatima Cardoso, Barbro Linderholm, Coralie Poncet, Antonio C Wolff, Vesna Bjelic-Radisic, Gustavo Werutsky, Miguel H Abreu, Ivana Bozovic-Spasojevic, Irma Den Hoed, Aafke H Honkoop, Maartje Los, Jose P Leone, Nicola S Russell, Tineke J Smilde, Annette W G Van Der Velden, Catherine Van Poznak, Marije M Vleugel, Rachel L Yung, Corneel Coens, Sharon H Giordano, Kathryn J Ruddy

Faculty, Staff and Student Publications

INTRODUCTION: Prospective data about quality of life (QoL) in men with breast cancer (BC) are lacking. A prospective registry (EORTC10085) of men with all BC stages, including a QoL correlative study, was performed as part of the International Male Breast Cancer Program.

METHODS: Questionnaires at BC diagnosis included the EORTC QLQ-C30 and BR23 (BC specific module), adapted for men. High functioning and global health/QoL scores indicate high functioning levels/high QoL; high symptom-focused measures scores indicate high symptoms/problems levels. EORTC reference data for healthy men and women with BC were used for comparisons.

RESULTS: Of 422 men consenting to participate, 363 …

Comparison Of Bacterial Culture With Biofire® Filmarray® Multiplex Pcr Screening Of Archived Cerebrospinal Fluid Specimens From Children With Suspected Bacterial Meningitis In Nigeria, S Obaro, F Hassan-Hanga, N Medugu, Rasaq Olaosebikan, G Olanipekun, B Jibir, S Gambo, Theresa Ajose, Carissa Duru, B Ebruke, H D Davies

Department of Pharmacology and Experimental Therapeutics Faculty Papers

BACKGROUND: Diagnosis of bacterial meningitis remains a challenge in most developing countries due to low yield from bacterial culture, widespread use of non-prescription antibiotics, and weak microbiology laboratories. The objective of this study was to compare the yield from standard bacterial culture with the multiplex nested PCR platform, the BioFire® FilmArray® Meningitis/Encephalitis Panel (BioFire ME Panel), for cases with suspected acute bacterial meningitis.

METHODS: Following Gram stain and bacterial culture on cerebrospinal fluid (CSF) collected from children aged less than 5 years with a clinical suspicion of acute bacterial meningitis (ABM) as defined by the WHO guidelines, residual CSF specimens …

Availability Of Family Caregiver Programs In Us Cancer Centers, J Nicholas Odom, Allison Applebaum, Marie A Bakitas, Tara Bryant, Erin Currie, Kayleigh Curry, Heidi Donovan, Maria E Fernandez, Betty Ferrell, Andres Azuero, Tamryn F Gray, Bailey A Hendricks, Diane Meier, Chandylen Nightingale, Susan Reinhard, Timothy S Sannes, Katherine Sterba, Heather M Young

Faculty, Staff and Student Publications

Importance: Family caregivers provide the majority of health care to the 18 million patients with cancer in the US. Yet despite providing complex medical and nursing care, a large proportion of caregivers report no formal support or training. In recognition of this gap, many interventions to support cancer caregivers have been developed and tested over the past 2 decades. However, there are few system-level data on whether US cancer centers have adopted and implemented these interventions.

Objective: To describe and characterize the availability of family caregiver support programs in US cancer centers.

Design, setting, and participants: This cross-sectional national survey …

Association Of Parental Status And Gender With Burden Of Multidisciplinary Tumor Boards Among Oncology Physicians, Brittney L Chau, Jonnby S Laguardia, Sungjin Kim, Samuel C Zhang, Eric Pletcher, Nina N Sanford, Ann C Raldow, Lisa Singer, Jun Gong, Sukhmani K Padda, Mitchell Kamrava, Tara Cohen, Devarati Mitra, Katelyn M Atkins

Faculty, Staff and Student Publications

IMPORTANCE: Tumor boards are integral to the care of patients with cancer. However, data investigating the burden of tumor boards on physicians are limited.

OBJECTIVE: To investigate what physician-related and tumor board-related factors are associated with higher tumor board burden among oncology physicians.

DESIGN, SETTING, AND PARTICIPANTS: Tumor board burden was assessed by a cross-sectional convenience survey posted on social media and by email to Cedars-Sinai Medical Center cancer physicians between March 3 and April 3, 2022. Tumor board start times were independently collected by email from 22 top cancer centers.

MAIN OUTCOMES AND MEASURES: Tumor board burden was measured …

Safety And Immunogenicity Of Live Viral Vaccines In A Multicenter Cohort Of Pediatric Transplant Recipients, Amy G Feldman, Brenda L Beaty, Jose A Ferrolino, Gabriela Maron, Hillary K Weidner, Saira A Ali, Leandra Bitterfeld, Mary Alice Boulware, Kathleen M Campbell, Emily Carr, Shelley Chapman, Yeh-Chung Chang, Ryan Cunningham, Ronald H Dallas, Keerti L Dantuluri, Bryanna N Domenick, Noelle H Ebel, Scott Elisofon, Rima Fawaz, Marc Foca, Hayley A Gans, Vani V Gopalareddy, Cindy Gu, Nitika A Gupta, Katherine Harmann, Jessica Hollenbeck, Anna R Huppler, Catalina Jaramillo, Nagraj Kasi, Nanda Kerkar, Stacee Lerret, Steven J Lobritto, Maclovio J Lopez, Elizabeth Marini, Alisha Mavis, Sonia Mehra, Lynnette Moats, Sindhu Mohandas, Flor M Munoz, Krupa R Mysore, Ceren Onsan, Nadia Ovchinsky, Kerrigan Perkins, Stacy Postma, Lauren Pratscher, Elizabeth B Rand, Regina K Rowe, Danielle Schultz, Katherine Sear, Megan L Sell, Tanvi Sharma, Janis Stoll, Mychoua Vang, Dominique Villarin, Carly Weaver, Phoebe Wood, Olivia Woodford-Berry, George Yanni, Lara A Danziger-Isakov

Faculty, Staff and Students Publications

IMPORTANCE: Live vaccines (measles-mumps-rubella [MMR] and varicella-zoster virus [VZV]) have not been recommended after solid organ transplant due to concern for inciting vaccine strain infection in an immunocompromised host. However, the rates of measles, mumps, and varicella are rising nationally and internationally, leaving susceptible immunocompromised children at risk for life-threating conditions.

OBJECTIVE: To determine the safety and immunogenicity of live vaccines in pediatric liver and kidney transplant recipients.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study included select pediatric liver and kidney transplant recipients who had not completed their primary MMR and VZV vaccine series and/or who displayed nonprotective serum antibody …

Safety And Immunogenicity Of Live Viral Vaccines In A Multicenter Cohort Of Pediatric Transplant Recipients, Amy G Feldman, Stacy Postma, Janis Stoll, Et Al.

2020-Current year OA Pubs

IMPORTANCE: Live vaccines (measles-mumps-rubella [MMR] and varicella-zoster virus [VZV]) have not been recommended after solid organ transplant due to concern for inciting vaccine strain infection in an immunocompromised host. However, the rates of measles, mumps, and varicella are rising nationally and internationally, leaving susceptible immunocompromised children at risk for life-threating conditions.

OBJECTIVE: To determine the safety and immunogenicity of live vaccines in pediatric liver and kidney transplant recipients.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study included select pediatric liver and kidney transplant recipients who had not completed their primary MMR and VZV vaccine series and/or who displayed nonprotective serum antibody …

Longitudinal Follow-Up Of Netherton’S Syndrome, K. Petit, Christina E. Borchers, Julian Trevino

Dermatology Faculty Publications

Netherton’s Syndrome (NS) is a rare, autosomal recessivegenodermatosis caused by mutations in SPINK5 which encodes LETKI, aserine protease inhibitor.2,4 Consequently, unopposed kallikrein activityresults in an impaired skin barrier and desquamation.2 A triad of atopy,ichthyosis linearis circumflexa, and trichorrhexis invaginata (“bamboohair”) is characteristic of this disease.1 Associated findings includehypereosinophilia and elevated IgE. Histologically, a nonspecificpsoriasiform hyperplasia and dermal lymphocytic infiltrate may beobserved.1,6 Clinically, NS is frequently misdiagnosed as atopic dermatitis(AD) and proves difficult to treat.2 Dupilumab, an IL-4/IL-13 inhibitor withFDA approval for the treatment of atopic dermatitis and prurigo nodularis,may be a promising therapy for patients with NS.3 We present alongitudinal …

A Refined Teach-Back Observation Tool: Validity Evidence In A Pediatric Setting, Mary Ann Abrams, Kristin Garton Crichton, Edward J. Oberle, Stacy Flowers, Timothy N. Crawford, Michael F. Perry, John D. Mahan, Suzanne Reed

Family Medicine Faculty Publications

Background: Teach Back (TB) is recommended to assess and ensure patient understanding, thereby promoting safety, quality, and equity. There are many TB trainings, typically lacking assessment tools with validity evidence. We used a pediatric resident competency-based communication curriculum to develop initial validity evidence and refinement recommendations for a Teach-back Observation Tool (T-BOT).

Objective: This study aimed to develop initial validity evidence for a refined T-BOT and provide guidance for further enhancements to improve essential TB skills training among pediatric residents.

Methods: After an interactive health literacy (HL) training, residents participated in recorded standardized patient (SP) encounters. Raters developed T-BOT scoring …

Emphasizing Others’ Persistence Can Promote Unwarranted Social Inferences In Children And Adults, Jamie Amemiya, Gail D Heyman, Caren M Walker

Faculty, Staff and Student Publications

People often hear stories about individuals who persist to overcome their constraints. While these stories can be motivating, emphasizing others’ persistence may promote unwarranted judgments about constrained individuals who do not persist. Using a developmental social inference task (Study 1a: n = 124 U.S. children, 5 to 12 years of age; Study 1b [n = 135] and Study 2 [n = 120]: U.S. adults), the present research tested whether persistence stories lead people to infer that a constrained individual who does not persist, and instead accepts the lower-quality option that is available to them, prefers it over a …

Ignoring Clustering And Nesting Effects Are Invalid Analysis Choices In A Trial With Clustered Data In Trials Testing Causal Effects Re: "Impact Of A Montessori-Based Nutrition Program On Children's Knowledge And Eating Behaviors", Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Colby J Vorland, Abu Bakkar Siddique, Deborah H Glueck, David B Allison

Children’s Nutrition Research Center Staff Publications

Vitale and Coccia conducted a study to examine the effects of a nutrition education program among school children, and reported statistically significant between-group effects for nutrition knowledge and liking tomatoes. In the study blocks of classrooms were assigned to the study conditions. Thus, with children nested within classrooms, and classrooms nested within blocks, the study has a two-level design, and block is the independent sampling unit. The analysis of the study must account for the two levels of clustering, but it did not. This render the conclusions reported in the paper unsubstantiated. For correcting the scientific record, reanalysis of the …

Expert Panel Curation Of 113 Primary Mitochondrial Disease Genes For The Leigh Syndrome Spectrum, Elizabeth M Mccormick, Kierstin Keller, Julie P Taylor, Alison J Coffey, Lishuang Shen, Danuta Krotoski, Brian Harding, Xiaowu Gai, Marni J Falk, Zarazuela Zolkipli-Cunningham, Shamima Rahman

Children’s Nutrition Research Center Staff Publications

Objective: Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent manifestation of PMD in children, but may also present in adults. A major challenge for accurate diagnosis of LSS in the genomic medicine era is establishing gene-disease relationships (GDRs) for this syndrome with >100 monogenic causes across both nuclear and mitochondrial genomes.

Methods: The Clinical Genome Resource (ClinGen) Mitochondrial Disease Gene Curation Expert Panel (GCEP), comprising 40 international PMD experts, met monthly for 4 years to review GDRs for LSS. The GCEP …

Comparison Of Lotions, Creams, Gels And Ointments For The Treatment Of Childhood Eczema: The Bee Rct, Matthew J Ridd, Sian Wells, Stephanie J Macneill, Emily Sanderson, Douglas Webb, Jonathan Banks, Eileen Sutton, Alison Rg Shaw, Zoe Wilkins, Julie Clayton, Amanda Roberts, Kirsty Garfield, Lyn Liddiard, Tiffany J Barrett, J Athene Lane, Helen Baxter, Laura Howells, Jodi Taylor, Alastair D Hay, Hywel C Williams, Kim S Thomas, Miriam Santer

Faculty, Staff and Student Publications

BACKGROUND: Emollients are recommended for children with eczema (atopic eczema/dermatitis). A lack of head-to-head comparisons of the effectiveness and acceptability of the different types of emollients has resulted in a 'trial and error' approach to prescribing.

OBJECTIVE: To compare the effectiveness and acceptability of four commonly used types of emollients for the treatment of childhood eczema.

DESIGN: Four group, parallel, individually randomised, superiority randomised clinical trials with a nested qualitative study, completed in 2021. A purposeful sample of parents/children was interviewed at ≈ 4 and ≈ 16 weeks.

SETTING: Primary care (78 general practitioner surgeries) in England.

PARTICIPANTS: Children aged …

3-Year Follow-Up Of A Prospective, Multicenter Study Of The Amplatzer Piccolo™ Occluder For Transcatheter Patent Ductus Arteriosus Closure In Children ≥ 700 Grams., Brian H. Morray, Shyam K. Sathanandam, Thomas Forbes, Matthew Gillespie, Darren Berman, Aimee K. Armstrong, Shabana Shahanavaz, Thomas Jones, Toby A. Rockefeller, Henri Justino, David Nykanen, Courtney Weiler, Dan Gutfinger, Evan M. Zahn

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: This study describes 3-year follow-up of 200 infants weighing ≥ 700 grams who underwent transcatheter patent ductus arteriosus (PDA) closure with the Amplatzer Piccolo™ Occluder.

STUDY DESIGN: Between June 2017 and February 2019, 200 children were enrolled in this U.S. study (NCT03055858). PDA closure, survival, and device- or procedure-related events were evaluated. A total of 156 of the available 182 patients (86%) completed the study.

RESULTS: The implant success rate was 95.5% (191/200). At 3 years, PDA closure was observed in 100% (33/33) of patients. Survival was >95% with 9 reported deaths. No deaths were adjudicated as device- or …

The Impact Of Pediatric Ckd On Educational And Employment Outcomes., Lyndsay A. Harshman, Ryan C. Ward, Matthew B. Matheson, Anne Dawson, Amy J. Kogon, Marc B. Lande, Stephen J. Molitor, Rebecca J. Johnson, Camille Wilson, Bradley A. Warady, Susan L. Furth, Stephen R. Hooper

Manuscripts, Articles, Book Chapters and Other Papers

KEY POINTS: This study evaluates educational and employment outcomes in patients with pediatric kidney disease and assesses predictors of educational attainment and employment in young adulthood. Despite high rates of high school graduation, nearly 20% of patients with CKD are unemployed or receiving disability at long-term follow-up.

BACKGROUND: Pediatric patients with CKD are at risk for neurocognitive deficits and academic underachievement. This population may be at risk for lower educational attainment and higher rates of unemployment; however, published data have focused on patients with advanced CKD and exist in isolation from assessment of neurocognition and kidney function.

METHODS: Data from …

Clinical Genome Sequencing: Three Years’ Experience At A Tertiary Children’S Hospital, Runjun D Kumar, Lisa F Saba, Haley Streff, Chad A Shaw, Elizabeth Mizerik, Matthew T Snyder, Dolores Lopez-Terrada, Jennifer Scull

Duncan NRI Faculty and Staff Publications

Purpose: Genome sequencing (GS) may shorten the diagnostic odyssey for patients, but clinical experience with this assay in nonresearch settings remains limited. Texas Children's Hospital began offering GS as a clinical test to admitted patients in 2020, providing an opportunity to study GS utilization, possibilities for test optimization, and testing outcomes.

Methods: We retrospectively reviewed GS orders for admitted patients for a nearly 3-year period from March 2020 through December 2022. We gathered anonymized clinical data from the electronic health record to answer the study questions.

Results: The diagnostic yield over 97 admitted patients was 35%. The majority of GS …

Can Craniosynostosis Be Diagnosed On Physical Examination? A Retrospective Review, Carmen A Zavala, Laura A Zima, Matthew R Greives, Stephen A Fletcher, Manish N Shah, Brandon A Miller, David I Sandberg, Phuong D Nguyen

Faculty, Staff and Student Publications

Craniosynostosis is a developmental craniofacial defect in which one or more sutures of the skull fuse together prematurely. Uncorrected craniosynostosis may have serious complications including elevated intracranial pressure, developmental delay, and blindness. Proper diagnosis of craniosynostosis requires a physical examination of the head with assessment for symmetry and palpation of sutures for prominence. Often, if craniosynostosis is suspected, computed tomography (CT) imaging will be obtained. Recent literature has posited that this is unnecessary. This study aims to address whether physical examination alone is sufficient for the diagnosis and treatment planning of single suture craniosynostosis. Between 2015 and 2022, the Divisions …

Cancer Germline Predisposing Variants And Late Mortality From Subsequent Malignant Neoplasms Among Long-Term Childhood Cancer Survivors: A Report From The St Jude Lifetime Cohort And The Childhood Cancer Survivor Study, Cheng Chen, Na Qin, Mingjuan Wang, Qian Dong, Saima Sultana Tithi, Yawei Hui, Wenan Chen, Gang Wu, Dennis Kennetz, Michael N Edmonson, Michael C Rusch, Andrew Thrasher, John Easton, Heather L Mulder, Nan Song, Noel-Marie Plonski, Kyla Shelton, Cindy Im, Matthew J Ehrhardt, Kim E Nichols, Wendy M Leisenring, Kayla L Stratton, Rebecca Howell, Yutaka Yasui, Smita Bhatia, Gregory T Armstrong, Kirsten K Ness, Melissa M Hudson, Jinghui Zhang, Hui Wang, Deo Kumar Srivastava, Leslie L Robison, Zhaoming Wang

Faculty, Staff and Student Publications

Background: Carriers of cancer predisposing variants are at an increased risk of developing subsequent malignant neoplasms among those who have survived childhood cancer. We aimed to investigate whether cancer predisposing variants contribute to the risk of subsequent malignant neoplasm-related late mortality (5 years or more after diagnosis).

Methods: In this analysis, data were included from two retrospective cohort studies, St Jude Lifetime Cohort (SJLIFE) and the Childhood Cancer Survivor Study (CCSS), with prospective follow-up of patients who were alive for at least 5 years after diagnosis with childhood cancer (ie, long-term childhood cancer survivors) with corresponding germline whole genome or …

Risk Factors For Overweight And Obesity After Childhood Acute Lymphoblastic Leukemia In North America And Switzerland: A Comparison Of Two Cohort Studies, Fabiën N Belle, Christina Schindera, Marc Ansari, Gregory T Armstrong, Maja Beck-Popovic, Rebecca Howell, Wendy M Leisenring, Lillian R Meacham, Jochen Rössler, Ben D Spycher, Emily Tonorezos, Nicolas X Von Der Weid, Yutaka Yasui, Kevin C Oeffinger, Claudia E Kuehni

Faculty, Staff and Student Publications

Background: After childhood acute lymphoblastic leukemia (ALL), sequelae include overweight and obesity, yet with conflicting evidence. We compared the prevalence of overweight and obesity between ≥5-year ALL survivors from the North American Childhood Cancer Survivor Study (CCSS) and the Swiss Childhood Cancer Survivor Study (SCCSS) and described risk factors.

Methods: We included adult childhood ALL survivors diagnosed between 1976 and 1999. We matched CCSS participants (3:1) to SCCSS participants by sex and attained age. We calculated body mass index (BMI) from self-reported height and weight for 1287 CCSS and 429 SCCSS participants; we then compared those with siblings (2034) in …

Partnering With Patients And Families To Improve Diagnostic Safety Through The Ourdx Tool: Effects Of Race, Ethnicity, And Language Preference, Fabienne C Bourgeois, Nicholas J Hart, Zhiyong Dong, Long H Ngo, Catherine M Desroches, Eric J Thomas, Sigall K Bell

Faculty, Staff and Student Publications

BACKGROUND: Patients and families at risk for health disparities may also be at higher risk for diagnostic errors but less likely to report them.

OBJECTIVES: This study aimed to explore differences in race, ethnicity, and language preference associated with patient and family contributions and concerns using an electronic previsit tool designed to engage patients and families in the diagnostic process (DxP).

METHODS: Cross-sectional study of 5,731 patients and families presenting to three subspecialty clinics at an urban pediatric hospital May to December 2021 who completed a previsit tool, codeveloped and tested with patients and families. Prior to each visit, patients/families …

Can Craniosynostosis Be Diagnosed On Physical Examination? A Retrospective Review, Carmen A Zavala, Laura A Zima, Matthew R Greives, Stephen A Fletcher, Manish N Shah, Brandon A Miller, David I Sandberg, Phuong D Nguyen

Faculty, Staff and Student Publications

Craniosynostosis is a developmental craniofacial defect in which one or more sutures of the skull fuse together prematurely. Uncorrected craniosynostosis may have serious complications including elevated intracranial pressure, developmental delay, and blindness. Proper diagnosis of craniosynostosis requires a physical examination of the head with assessment for symmetry and palpation of sutures for prominence. Often, if craniosynostosis is suspected, computed tomography (CT) imaging will be obtained. Recent literature has posited that this is unnecessary. This study aims to address whether physical examination alone is sufficient for the diagnosis and treatment planning of single suture craniosynostosis. Between 2015 and 2022, the Divisions …

Regression Analysis Of General Mixed Recurrent Event Data, Ryan Sun, Dayu Sun, Liang Zhu, Jianguo Sun

Faculty, Staff and Student Publications

In modern biomedical datasets, it is common for recurrent outcomes data to be collected in an incomplete manner. More specifically, information on recurrent events is routinely recorded as a mixture of recurrent event data, panel count data, and panel binary data; we refer to this structure as general mixed recurrent event data. Although the aforementioned data types are individually well-studied, there does not appear to exist an established approach for regression analysis of the three component combination. Often, ad-hoc measures such as imputation or discarding of data are used to homogenize records prior to the analysis, but such measures lead …

Germline Pathogenic Smarca4 Variants In Neuroblastoma, Leora Witkowski, Kim E Nichols, Marjolijn Jongmans, Nienke Van Engelen, Ronald R De Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E Plon, William D Foulkes

Faculty, Staff and Students Publications

Heterozygous germline pathogenic variants (GPVs) in SMARCA4, the gene encoding the ATP-dependent chromatin remodeling protein SMARCA4 (previously known as BRG1), predispose to several rare tumour types, including small cell carcinoma of the ovary, hypercalcemic type, atypical teratoid and malignant rhabdoid tumor, and uterine sarcoma. The increase in germline testing of SMARCA4 in recent years has revealed putative GPVs affecting SMARCA4 in patients with other cancer types. Here we describe 11 patients with neuroblastoma, including four previously unreported cases, all of whom were found to harbour heterozygous germline variants in SMARCA4. Median age at diagnosis was 5 years (range 2 …

Cardiac Magnetic Resonance Imaging To Determine Single Ventricle Function In A Pediatric Population Is Feasible In A Large Trial Setting: Experience From The Single Ventricle Reconstruction Trial Longitudinal Follow Up, Jon Detterich, Michael D Taylor, Timothy C Slesnick, Michael Dilorenzo, Anthony Hlavacek, Christopher Z Lam, Shagun Sachdeva, Sean M Lang, M Jay Campbell, Jennifer Gerardin, Kevin K Whitehead, Rahul H Rathod, Mark Cartoski, Shaji Menon, Felicia Trachtenberg, Russell Gongwer, Jane Newburger, Caren Goldberg, Adam L Dorfman, The Pediatric Heart Network Investigators

Faculty, Staff and Students Publications

The Single Ventricle Reconstruction (SVR) Trial was a randomized prospective trial designed to determine survival advantage of the modified Blalock-Taussig-Thomas shunt (BTTS) vs the right ventricle to pulmonary artery conduit (RVPAS) for patients with hypoplastic left heart syndrome. The primary aim of the long-term follow-up (SVRIII) was to determine the impact of shunt type on RV function. In this work, we describe the use of CMR in a large cohort follow up from the SVR Trial as a focused study of single ventricle function. The SVRIII protocol included short axis steady-state free precession imaging to assess single ventricle systolic function …

Quality Improvement Initiative To Improve Time And Adherence To Revaccination After Hematopoietic Cell Transplantation: Implementation Of A Revaccination Clinic Within The Transplantation Program, Caitlin Elgarten, Anne Wohlschlaeger, Ellen Levy, Katharine Tadley, Lei Wang, Megan Atkinson, Houston Roberson, Timothy Olson, Nancy Bunin, Jennifer Heimall, Brian Fisher, Stephan Grupp, Jason Freedman

Faculty, Staff and Students Publications

Background:

Revaccination after hematopoietic cell transplantation (HCT) is critical to prevent morbidity and mortality from vaccine preventable illnesses. While earlier re-vaccination after HCT is desirable, they may be ineffective if deployed before partial reconstitution of adaptive immunity. Increasingly, personalized approaches to re-vaccination after HCT have replaced time-based protocols in order to minimize unvaccinated time and enhance vaccine effectiveness. Furthermore, for revaccination to be maximally beneficial, compliance with, and timely delivery of the complete revaccination schedule is imperative, but rare, and there is little data on strategies to optimize vaccine delivery.

Objectives:

The global aim of our quality improvement initiative was …

A Cross-Species Proteomic Map Reveals Neoteny Of Human Synapse Development, Li Wang, Kaifang Pang, Li Zhou, Arantxa Cebrián-Silla, Susana González-Granero, Shaohui Wang, Qiuli Bi, Matthew L White, Brandon Ho, Jiani Li, Tao Li, Yonatan Perez, Eric J Huang, Ethan A Winkler, Mercedes F Paredes, Rothem Kovner, Nenad Sestan, Alex A Pollen, Pengyuan Liu, Jingjing Li, Xianhua Piao, José Manuel García-Verdugo, Arturo Alvarez-Buylla, Zhandong Liu, Arnold R Kriegstein

Faculty, Staff and Students Publications

The molecular mechanisms and evolutionary changes accompanying synapse development are still poorly understood1,2. Here we generate a cross-species proteomic map of synapse development in the human, macaque and mouse neocortex. By tracking the changes of more than 1,000 postsynaptic density (PSD) proteins from midgestation to young adulthood, we find that PSD maturation in humans separates into three major phases that are dominated by distinct pathways. Cross-species comparisons reveal that human PSDs mature about two to three times slower than those of other species and contain higher levels of Rho guanine nucleotide exchange factors (RhoGEFs) in the …

Measuring Misophonia In Youth: A Psychometric Evaluation Of Child And Parent Measures, Matti Cervin, Andrew G Guzick, Jane Clinger, Eleanor E A Smith, Isabel A Draper, Wayne K Goodman, Marijn Lijffijt, Nicholas Murphy, Catherine E Rast, Sophie C Schneider, Eric A Storch

Faculty, Staff and Students Publications

BACKGROUND: Misophonia is characterized by intense emotional reactions to specific sounds or visual stimuli and typically onsets during childhood. An obstacle for research and clinical practice is that no comprehensively evaluated measures for pediatric misophonia exist.

METHODS: In a sample of 102 youth meeting the proposed diagnostic criteria of misophonia, we evaluated the child and parent-proxy versions of the self-reported Misophonia Assessment Questionnaire (MAQ; assessing broad aspects of misophonia) and the child version of the Amsterdam Misophonia Scale (A-MISO-S; assessing misophonia severity). Confirmatory and exploratory factor analysis were used to examine factor structures of the measures. Further, child-parent agreement on …

Plasma Amino Acid Signatures Define Types Of Pediatric Diabetes, Mustafa Tosur, Jean W Hsu, Saima Deen, Xiaofan Huang, Danielle Guffey, Serife Uysal, Marcela Astudillo, Maria J Redondo, Farook Jahoor, Ashok Balasubramanyam

Faculty, Staff and Students Publications

BACKGROUND & AIMS: Metabolic biomarkers with pathophysiological relevance is lacking in pediatric diabetes. We aimed to identify novel metabolic biomarkers in pediatric type 1 (T1D) and type 2 diabetes (T2D). We hypothesized that (1) targeted plasma metabolomics, focused on plasma amino acid concentrations, could identify distinctively altered patterns in children with T1D or T2D, and (2) there are specific changes in concentrations of metabolites related to branch chain amino acids (BCAA) and arginine metabolism in children with T2D.

METHODS: In a pilot study, we enrolled children with T1D (n = 15) and T2D (n = 13), and healthy controls (n …