Diagnosis Commons^™

An Analysis Of Pediatric Retinoblastoma Medical Malpractice Litigation, Victoria Miller, Alyssa D. Reese, Katherine Foote, Alejandro Navarro, Andrew Galfano, Christian Hietanen

Department Surgery Faculty Publications

BACKGROUND: Retinoblastoma is a cancer of the retina that is most commonly diagnosed in the pediatric population. Unfortunately, this cancer can spread, leading to poor outcomes such as enucleation. The purpose of this study was to determine the characteristics of medical malpractice litigation associated with a diagnosis of retinoblastoma in the pediatric population.

METHODS: A search for all available cases associated with "retinoblastoma" in the Westlaw Campus Research Legal Database was conducted. This spanned from database inception to August 2023. Cases were included if there was a complaint of medical malpractice related to retinoblastoma present in a pediatric patient. Demographic …

35 Individuals With Huwe1-Related Neurodevelopmental Disorder And Suggested Clinical Evaluations, Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillman, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano

Department of Pediatrics Faculty Publications

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well …

The Crucial Role Of Machine Learning Models In Predicting Current Childhood Asthma: Model Comparison, Calibration, And Shap-Based Interpretation, Aditya Chakraborty, A. K.M. Raquibul Bashar

Epidemiology, Biostatistics, & Environmental Health Faculty Publications

Background: Asthma is one of the most prominent chronic diseases in children and one of the most challenging ailments to diagnose in infants and preschoolers in the United States. Predictive models can be instrumental in improving early diagnosis, personalized treatment strategies, and disease progression. By utilizing nationalized data, this study focuses on building and comparing high-performing analytical predictive models based on the relevant risk factors and identifying the most influential predictors.

Methods: We analyzed cross-sectional BRFSS Asthma Call-Back Survey data (2011-2020; N = 9,813) and randomly split participants into training and testing sets. An XGBoost model (hyperparameters tuned via grid …

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 …

External Validation Of The Phoenix Sepsis Score In Children With Suspected Community-Acquired Sepsis, Elliot Long, Meredith Borland, Shane George, Shefali Jani, Eunicia Tan, Natalie Phillips, Amit Kochar, Simon Craig, Anna Lithgow, Arjun Rao, Stuart Dalziel, Ed Oakley, Stephen Hearps, Ben Gelbart, Sarah Mcnab, Fran Balamuth, Scott Weiss, Nathan Kuppermann, Charlotte Brad, Amanda Williams, Franz Babl

Department of Medicine Faculty Papers

IMPORTANCE: The novel Phoenix Sepsis Score and sepsis criteria were derived and validated using a multicountry dataset and proposed as a new definition for sepsis in children.

OBJECTIVE: To externally validate the Phoenix Sepsis Score and sepsis criteria in a cohort of children hospitalized with suspected community-acquired sepsis.

DESIGN, SETTING, AND PARTICIPANTS: This diagnostic study used data from the multicenter, multicountry Sepsis Epidemiology in Australian and New Zealand Emergency Departments (SENTINEL) study, collected from 2021 to 2023 and including 90-day follow-up. Children admitted to the hospital through 11 emergency departments in Australia and New Zealand and treated with parenteral antibiotics …

Multiparametric Mri Along With Machine Learning Predicts Prognosis And Treatment Response In Pediatric Low-Grade Glioma, Anahita Fathi Kazerooni, Adam Kraya, Komal Rathi, Meen Chul Kim, Arastoo Vossough, Nastaran Khalili, Ariana Familiar, Deep Gandhi, Neda Khalili, Varun Kesherwani, Debanjan Haldar, Hannah Anderson, Run Jin, Aria Mahtabfar, Sina Bagheri, Yiran Guo, Qi Li, Xiaoyan Huang, Yuankun Zhu, Alex Sickler, Matthew R Lueder, Saksham Phul, Mateusz Koptyra, Phillip Storm, Jeffrey Ware, Yuanquan Song, Christos Davatzikos, Jessica Foster, Sabine Mueller, Michael J Fisher, Adam Resnick, Ali Nabavizadeh

Department of Neurosurgery Faculty Papers

Pediatric low-grade gliomas (pLGGs) exhibit heterogeneous prognoses and variable responses to treatment, leading to tumor progression and adverse outcomes in cases where complete resection is unachievable. Early prediction of treatment responsiveness and suitability for immunotherapy has the potential to improve clinical management and outcomes. Here, we present a radiogenomic analysis of pLGGs, integrating MRI and RNA sequencing data. We identify three immunologically distinct clusters, with one group characterized by increased immune activity and poorer prognosis, indicating potential benefit from immunotherapies. We develop a radiomic signature that predicts these immune profiles with over 80% accuracy. Furthermore, our clinicoradiomic model predicts progression-free …

Magnetization Transfer Ratio In The Typically Developing Pediatric Spinal Cord: Normative Data And Age Correlation, Sara Naghizadeh Kashani, Iswarya Vel, Zahra Sadeghi Adl, Shiva Shahrampour, Devon Middleton, Mahdi Alizadeh, Laura Krisa, Scott Faro, Slimane Tounekti, Julien Cohen-Adad, Feroze Mohamed

Department of Radiology Faculty Papers

BACKGROUND AND PURPOSE: This study presents automated atlas-based magnetization transfer (MT) measurements of the typically developing pediatric cervical spinal cord (SC). We report normative MT ratio (MTR) values from the whole cervical cord white matter (WM) and WM tracts, examining variations with age, sex, height, and weight.

METHODS: MT scans of 33 healthy females (mean age = 12.8) and 22 males (mean age = 13.09) were acquired from the cervical SC (C2-C7) using a 3.0 T MRI. Data were processed using the SC Toolbox, segmented, and registered to the PAM50 template. Affine and non-rigid transformations co-registered the PAM50 WM atlas …

Serological Proteomic Screening And Evaluation Of A Recombinant Egg Antigen For The Diagnosis Of Low-Intensity Schistosoma Mansoni Infections In Endemic Area In Brazil, Vanessa Silva-Moraes, Lisa Marie Shollenberger, William Castro-Borges, Ana Lucia Teles Rabello, Donald A. Harn, Lia Carolina Soares Medeiros, Wander De Jesus Jeremias, Liliane Maria Vidal Siqueira, Caroline Stephane Salviano Pereira, Maria Luysa Camargos Pedrosa, Nathalie Bonatti Franco Almeida, Aureo Almeida, Jose Roberto Lambertucci, Nidia Francisca De Figueiredo Carneiro, Paulo Marcos Zech Coelho, Refaella Fortini Queiroz Grenfell

Biological Sciences Faculty Publications

Background

Despite decades of use of control programs, schistosomiasis remains a global public health problem. To further reduce prevalence and intensity of infection, or to achieve the goal of elimination in low-endemic areas, there needs to be better diagnostic tools to detect low-intensity infections in low-endemic areas in Brazil. The rationale for development of new diagnostic tools is that the current standard test Kato-Katz (KK) is not sensitive enough to detect low-intensity infections in low-endemic areas. In order to develop new diagnostic tools, we employed a proteomics approach to identify biomarkers associated with schistosome-specific immune responses in hopes of developing …

Innocent Heart Murmur., Arpan R. Doshi

Manuscripts, Articles, Book Chapters and Other Papers

Heart murmur is the most common reason for a referral to a pediatric cardiologist. Virtually all children have a heart murmur during their childhood. Less than 1% of murmurs are pathological in children. Innocent/functional heart murmur is the most common type of heart murmur. There are multiple theories proposed to identify etiology of innocent heart murmur with varying consensus, but everybody agrees that innocent heart murmur does not carry any morbidity or mortality risk. Even today, heart murmur is associated with high physician uncertainty and parental anxiety. Extensive cardiac evaluation for such a benign finding is also associated with high …

A Multicenter Study To Evaluate Pulmonary Function In Osteogenesis Imperfecta., Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey Krischer, Mary Mullins, Peter H. Byers, Robert A. Sandhaus, Michaela Durigova, Francis H. Glorieux, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Members Of The Brittle Bone Disorders Consortium, Eric T. Rush, Sandesh C S Nagamani

Manuscripts, Articles, Book Chapters and Other Papers

Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV₁ ), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV₁ which do not follow the expected trends of the …

The Influence Of Age On The Diagnostic Performance Of White Blood Cell Count And Absolute Neutrophil Count In Suspected Pediatric Appendicitis., Richard G. Bachur, Peter S. Dayan, Nanette C. Dudley, Lalit Bajaj, Michelle D. Stevenson, Charles G. Macias, Manoj K. Mittal, Jonathan Bennett, Kelly A. Sinclair, Michael C. Monuteaux, Anupam B. Kharbanda

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: White blood cell (WBC) count and absolute neutrophil count (ANC) are a standard part of the evaluation of suspected appendicitis. Specific threshold values are utilized in clinical pathways, but the discriminatory value of WBC count and ANC may vary by age. The objective of this study was to investigate whether the diagnostic value of WBC count and ANC varies across age groups and whether diagnostic thresholds should be age-adjusted.

METHODS: This is a multicenter prospective observational study of patients aged 3-18 years who were evaluated for appendicitis. Receiver operator characteristic curves were developed to assess overall discriminative power of …

Reducing Overutilization Of Testing For Clostridium Difficile Infection In A Pediatric Hospital System: A Quality Improvement Initiative., J Michael Klatte, Rangaraj Selvarangan, Mary Anne Jackson, Angela Myers

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: Study objectives included addressing overuse of Clostridium difficile laboratory testing by decreasing submission rates of nondiarrheal stool specimens and specimens from children ≤12 months of age and determining resultant patient and laboratory cost savings associated with decreased testing.

METHODS: A multifaceted initiative was developed, and components included multiple provider education methods, computerized order entry modifications, and automatic declination from laboratory on testing stool specimens of nondiarrheal consistency and from children ≤12 months old. A run chart, demonstrating numbers of nondiarrheal plus infant stool specimens submitted over time, was developed to analyze the initiative's impact on clinicians' test-ordering practices. A …

A Study Into The Diagnosis Of Obesity In Infants Less Than Two Years Old In The State Of Virginia, Lindsay Ann Bruno

Senior Honors Projects, 2010-2019

In 2007, the CDC reported approximately 12.5 million children and adolescents in the U.S. were obese. Among 24-month old clinically obese children, only 23% were diagnosed as obese. The most concerning is the prevalence of obesity in 6-month olds; 16% of 6-month old infants in the U.S. are obese, of which only 14% are diagnosed as being obese. Previous research concentrates on the factors that influence infant obesity, but does not address the prevalence of diagnosing obesity in children, particularly those under two years of age. The purpose of this project was to pioneer a survey exploring the prevalence of …

Management Of Pediatric Acute Appendicitis In The Computed Tomographic Era., Kuojen Tsao, Shawn D. St Peter, Patricia A. Valusek, Troy L. Spilde, Scott J. Keckler, Abhilash Nair, Daniel J. Ostlie, G W. Holcomb Iii

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND/PURPOSE: The treatment options for complicated appendicitis in children continue to evolve. Optimal management of complicated appendicitis relies on an accurate preoperative diagnosis. We examined the accuracy of our preoperative diagnosis including computed tomography (CT) and the influence on the management of children with perforated and nonperforated appendicitis.

METHODS: Following IRB approval, a 6-year review of all patients that underwent an appendectomy for suspected appendicitis was performed. Treatments included immediate operations and initial nonoperative management (antibiotic therapy +/- percutaneous drainage of abscess). Appendicitis was confirmed by histological examination.

RESULTS: One thousand seventy-eight patients underwent appendectomy for suspected appendicitis. Preoperative CT …