Digital Commons Network^™

The Mediating Effect Of Socioeconomic Status And Persistent Poverty On Racial And Ethnic Disparities In Pediatric Cancer Mortality In The United States, Josiane Kabayundo, Apu Das, Cheng Zheng, Emma Hymel, Krishtee Napit, Shinobu Watanabe-Galloway

Journal Articles: Epidemiology

BACKGROUND: Socioeconomic (SE) factors have been shown to mediate racial and ethnic disparities in adult cancer mortality. However, evidence in pediatric cancer is limited, especially at finer geographic levels.

OBJECTIVE: Evaluate the mediating effect of socioeconomic status (SES) and persistent poverty in racial and ethnic disparities in childhood cancer mortality using census tract-level data.

METHODS: Data were obtained from the 2006-2020 SEER Incidence Data with Census Tract Attributes Database and included children 0-19 years. Neighborhood-level SES was measured using a composite variable with five categories. Census tracts were classified as persistently poor if 20% or more of the population lived …

Long Covid And Cardiovascular Diseases Among U.S. Adults: Results From The U.S. Medical Expenditure Panel Survey, Geoffrey Y Zhang, John C Lin, Dang Nguyen, Sameed Ahmed M Khatana, Thomas P Giordano

Faculty, Staff and Students Publications

Objective: Long COVID is associated with persistent symptoms including cardiovascular complications; however, the epidemiology and directionality of this association remain unclear.

Methods: Utilizing a retrospective cohort study design with cross-sectional analyses, 8,332 respondents aged 18 and older from the 2022 Medical Expenditure Panel Survey (MEPS) who had a prior COVID-19 infection, were analyzed to determine the temporal association between long COVID and cardiovascular disease (CVD), modeling each as both outcome and exposure in separate analyses.

Results: Long COVID was associated with any CVD diagnosis (OR 1.37; 95% CI: 1.05-1.80), specifically angina (OR 1.81; 95% CI: 1.18-2.77) and myocardial infarction (OR …

Editorial: New Insights On Vascular And Metabolic Diabetic Complications, Hua Mao, John D Imig, Ricardo Espinosa-Tanguma

Faculty, Staff and Students Publications

No abstract provided.

Definitions Of Arginine Availability: A Critical Metabolic Marker Of Physiological Processes, Mustafa Tosur, Farook Jahoor, Ashok Balasubramanyam

Faculty, Staff and Students Publications

No abstract provided.

Modulation Of Corneal Sensory Processing And Pain Responses By Dry Eye And Corneal Wounding, Ebru Yaman, Yangluowa Qu, Kaylin C Arpaia, Fairouz Elsaeidi, Uma Lakshmi Balakrishnan, Lance He, Henry Skrehot, Jehan Alam, Rui Chen, Mary Ann Stepp, Cintia S De Paiva, Stephen C Pflugfelder

Faculty, Staff and Students Publications

Background: Dry eye disease (DED) is a multifactorial disorder of the ocular surface in which tear film instability, epithelial barrier disruption, and neurosensory dysfunction contribute to symptom generation. Although several contributing factors have been identified, how different forms of ocular surface stress affect sensory pathways and behavioral responses remains unclear.

Purpose: This study aimed to evaluate corneal barrier function, sensory responses, and pain-related behaviors across acute and chronic dry eye and corneal injury models, and to assess stimulus-specific responses associated with TRPV1 and TRPM8 mediated pathways.

Methods: Female C57BL/6 J wild type and Mmp9KO mice were evaluated in acute desiccating …

Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos

Faculty, Staff and Students Publications

No abstract provided.

Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer

Faculty, Staff and Students Publications

Background: Ependymoma is a malignancy of the neuroepithelium-derived ependyma that lines the spinal cord and ventricles of the brain, occurring most frequently in young children and older adults. Genetic susceptibility to ependymoma has proven difficult to assess due to disease rarity.

Methods: We performed genome-wide association studies (GWAS) of 478 ependymoma patients and 4,841 disease-free controls of European ancestry. Ependymoma patients consisted of 117 children (< 18 years old) with whole-genome sequencing (WGS), 142 children with genotyping, and 219 adults (≥18 years old) with genotyping. Genotyped samples were imputed using the 1,000 Genomes Project as the reference panel and underwent quality control filtering. The GWAS was performed separately by age group and technology (genotyped or WGS). GWAS variants were considered significant at P < 5 × 10-8.

Results: Among pediatric subjects with WGS data, we identified a significant intronic variant in EDIL3 (rs149378, P = 1.9 × 10-8) and a nearly significant intronic variant in LHX4 (rs79008224, P = 7.2 …

Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove

Faculty, Staff and Students Publications

Importance: Historically considered a skeletal dysplasia characterized by disproportionate short stature, achondroplasia is a condition with multisystemic effects due to the widespread expression of the fibroblast growth factor receptor 3 variant throughout the body, impacting muscle, neurological function, cardiorespiratory health, and health-related quality of life.

Objective: To evaluate the efficacy, safety, and tolerability of once-weekly navepegritide, an investigational prodrug of C-type natriuretic peptide, while assessing benefits beyond growth that may have important implications for complications and health-related quality of life in children with achondroplasia.

Design, setting, and participants: Enrollment for this pivotal phase 2b, randomized, double-blind, placebo-controlled trial (APPROACH) was …

Investigating Food-Related Behaviors In Smith-Magenis Syndrome: Tailoring A Questionnaire For A Rare Disease, Citrine Elatrash, Theresa A Wilson, Alexis C Wood, Sarah H Elsea, Stephanie Sisley

Faculty, Staff and Students Publications

Purpose: Accurate measurement is essential for tracking changes in clinical outcomes. Individuals with Smith-Magenis syndrome (SMS) exhibit challenging and unique food-related behaviors. We sought to determine the best tool to capture their unique food-related behaviors.

Methods: We conducted focus groups with caregivers of individuals with SMS to evaluate two commonly used questionnaires for food-related behaviors- the Food Related Problems Questionnaire (FRPQ) and the Hyperphagia Questionnaire for Clinical Trials (HQ-CT). Based on caregiver input and clinical expertise, we adapted these existing measures into a new tool: the SMS-FRPQ. We then validated this instrument for internal consistency and concurrent validity using online …

Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu

Faculty, Staff and Students Publications

Alzheimer's disease is characterized by complex molecular and cellular heterogeneity, which complicates efforts to identify consistent biomarkers and therapeutic targets. To better characterize the heterogeneity, we applied latent factor modeling to RNA sequencing data from approximately 2,500 human Alzheimer's disease brain samples, uncovering underlying patterns in gene expression. These transcriptional groups demonstrated unique gene expression profiles related to synaptic and neuronal pathways, vasculature development, and protein folding and antigen processing. Notably, this latent factor reflects variation in spatial sampling. Adjusting for the latent factor improved the identification of differentially expressed genes in disease samples. This finding suggests that spatial heterogeneity …

The Words Community Dwelling, Spanish-Preferring Mexican/Mexican American Adults Use To Talk About Alzheimer’S Disease And Genetic Testing: Implications For Education And Outreach, Jamie C Fong, Fatima I Chavez, Karla Silos, Mirna L Arroyo-Miranda, Gabriela Castro Castro, Mark E Kunik, Joshua M Shulman, Luis D Medina

Faculty, Staff and Students Publications

Introduction: Hispanic/Latino (H/L) adults are more likely than non-Hispanic White individuals to have Alzheimer's disease (AD), yet fewer than one in five H/L adults has apolipoprotein E (APOE) Ɛ4, underscoring gaps in understanding genetic risk across H/L heritage groups. H/L adults remain underrepresented in AD research that uses genetic data for participant stratification. To inform culturally appropriate educational materials for 16 million U.S. Spanish speakers, we identified culturally salient words Spanish-preferring H/L adults use to describe AD and genetic testing beyond APOE.

Methods: Community-residing, Spanish-preferring Mexican/Mexican American adults (n = 14) completed freelisting interviews, a method eliciting …

Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz

Faculty, Staff and Students Publications

Single nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving TBX4 have been associated with pulmonary arterial hypertension, ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs). Thus far, all large CNV deletions encompassing entire TBX4 have been found to have arisen de novo. Here, we present a three-generation family with three neonate siblings who died within 35-66 days due to histopathologically diagnosed LLDD. Whole-genome sequencing identified an ~108-kb CNV deletion encompassing TBX4 in all three infants. The deletion was also found in their mother with a history of pneumonia and persistent thick upper airway secretions and in the maternal grandfather …

Driving Impairment In Patients With Movement Disorders: Examining The Baylor Driving Questionnaire By Objective Driving Assessment, Abhishek Lenka, Ruosha Li, Karim Makhoul, Alan Gonzalez, Rory D Mahabir, Joseph Jankovic

Faculty, Staff and Students Publications

Background: The development of a screening tool to identify driving impairment in patients with movement disorders is an unmet need.

Objective: To validate Baylor Driving Questionnaire for Movement Disorders (BDQMD) by objective driving assessment (ODA).

Methods: In this cross-sectional study, 142 patients with various movement disorders completed the 10-item BDQMD and of those, 25 completed ODA using the driver performance analysis system (DPAS).

Results: The mean total BDQMD score for the whole cohort was 14.7 ± 5.6 (range 10-47). Patients who underwent ODA had a mean BDQMD score of 12.8 ± 2.9. Four had minimum driving skill, 20 had average, …

A Nonlinear Relationship Of Evoked Responses Following Charge-Balanced Single-Pulse Electrical Stimulation With Varying Pulse Widths, Isabel A Danstrom, Joshua A Adkinson, Zoe Liu, Meghan E Robinson, Denise Oswalt, Garrett P Banks, Atul Maheshwari, Lu Lin, Ben Shofty, Mohammed Hasen, Alica Goldman, Eleonora Bartoli, Sarah R Heilbronner, Kelly R Bijanki

Faculty, Staff and Students Publications

Background: Single-pulse electrical stimulation (SPES) can help guide neuromodulation therapy in an iterative process to reveal ideal circuits and degrees of engagement. Understanding the relationship between parameter input and neural output will be necessary both to build informative models of the brain's functional connectivity and to improve responses to stimulation-based neuromodulation therapies. Modulating pulse width alters the total charge delivered to neural tissue and is thought to selectively activate fibers with different diameters, potentially shifting therapeutic thresholds. The anterior cingulate cortex (ACC) and orbitofrontal cortex (OFC) are of great clinical relevance to the pathophysiology and treatment of neuropsychiatric disorders.

Objective: …

Case Report: Molecular Diagnostics And Clinical Courses Of Two Adult Spinal Pilocytic Astrocytoma Long-Term Survivors With Gtf2i::Braf Fusion, Lorenzo Argao, Pinar E Zerk, Hsiang-Chih Lu, Zied Abdullaev, Martha Quezado, Michelle L Cassidy, Bennett Mclver, Anna Choi, Marissa Panzer, Renee Tweneboah-Koduah, Lily Polskin, Marta Penas-Prado, Paul Park, Nathan Clarke, Kenneth Aldape, Jacob Mandel, Byram H Ozer

Faculty, Staff and Students Publications

Introduction: Pilocytic astrocytomas are driven by BRAF and mitogen-activated protein kinase (MAPK) alterations, typically KIAA1549::BRAF fusions. A rare GTF2I::BRAF fusion has been described, but little is known about these cases.

Case report: Here, we report two cases with GTF2I::BRAF fusions. Case 1 is a 36-year-old man initially diagnosed with myxopapillary ependymoma at the conus medullaris with three recurrences over 23 years requiring two surgeries, three rounds of radiation therapy, and one round of lapatinib/temozolomide. A distant disease focus in T3/T4 was sampled and tested with modern diagnostic techniques revealing a pilocytic astrocytoma on histology and methylation profiling. The patient has …

Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin

Faculty, Staff and Students Publications

Objective: Suicidal ideation has not been extensively studied in spinocerebellar ataxias (SCAs). The authors examined whether individuals with SCAs have increased suicidal ideation and related factors.

Methods: The authors studied patients with genetically confirmed SCAs enrolled in the Clinical Research Consortium for the Study of Cerebellar Ataxia cohort, examining the percentages of patients with SCA subtypes 1, 2, 3, and 6 who reported suicidal ideation and comparing findings with nationally representative data from the National Survey on Drug Use and Health (NSDUH). Clinical characteristics that may contribute to suicidal ideation in SCAs, including age, disease duration, sex, ataxia severity, depression, …

Age-Related Variations Of The Hemodynamic Response Function Spatially Resolved Across Human Cerebral Cortex, Nooshin J Fesharaki, Amanda Taylor, David Ress

Faculty, Staff and Students Publications

Normal aging leads to regional vascular and neural alterations. Age-related impairments in neurovascular coupling (NVC) affect the blood-oxygen-level-dependent (BOLD) hemodynamic response function (HRF) measured with functional magnetic resonance imaging, causing changes in both amplitude and temporal dynamics. Previously, global, systematic age-related changes in HRF characteristics were demonstrated, consistent with known microvascular aging effects. In this follow-up study, a standard space was used to compare spatially resolved cortical HRF dynamics between sex-balanced groups of young and older adults. The results showed substantial age-related differences in both HRF amplitude and timing across distinct cortical regions. Nearly twice as much cortical area exhibited …

Cultured Ex Vivo Human Brain Tissue Maintains Cell-Type Transcriptional Identities, J P Mcginnis, Sai Mallannagari, Maria Camila Guevara, Joshua Ortiz-Guzman, Benjamin D W Belfort, Suyang Bao, Snigdha Srivastava, Maria Morkas, Emily Ji, Kalman A Katlowitz, Angela Addison, Evelyne K Tantry, Carrie A Mohila, Melissa M Blessing, Nisha Gadgil, Samuel G Mcclugage, David F Bauer, William E Whitehead, Guillermo Aldave, Omar Tanweer, Naser Jaleel, Ali Jalali, Akash J Patel, Sameer A Sheth, Howard L Weiner, Shankar Gopinath, Ganesh Rao, Akdes Serin Harmanci, Daniel Curry, Benjamin R Arenkiel

Faculty, Staff and Students Publications

There is growing recognition of the need for human-based models of the nervous system and its diseases. Studies have investigated the electrophysiological properties of neurons in ex vivo human brain tissue, but the maintenance of other cell types remains unclear. We therefore used single-nucleus RNA sequencing of six patient samples to determine how well various cell types maintain their transcriptional identities over two weeks in organotypic slice culture (day 0, with 83 501 nuclei, and day 14, with 45 738). For each patient sample (two pediatric temporal lobectomies, one adult frontal cortex, two glioblastomas, and one medulloblastoma), we generated correlations …

Disrupted Intrathalamic And Thalamocortical Structural Covariance Networks In Posttraumatic Stress Disorder, Nick Steele, Ahmed Hussain, Delin Sun, C Lexi Baird, Courtney Russell, Neda Jahanshad, Lauren E Salminen, Miranda Olff, Jessie L Frijling, Dick J Veltman, Saskia B J Koch, Laura Nawijn, Mirjam Van Zuiden, Li Wang, Ye Zhu, Gen Li, Dan J Stein, Jonathan Ipser, Sheri Koopowitz, Yuval Neria, Xi Zhu, Orren Ravid, Sigal Zilcha-Mano, Amit Lazarov, Benjamin Suarez-Jimenez, Ashley A Huggins, Jennifer Stevens, Kerry Ressler, Tanja Jovanovic, Sanne J H Van Rooij, Negar Fani, Emily L Dennis, David F Tate, David X Cifu, William C Walker, Elisabeth A Wilde, Ivan Rektor, Pavel Říha, Milissa L Kaufman, Lauren A M Lebois, Justin T Baker, Anthony King, Israel Liberzon, Mike Angstadt, Nicholas D Davenport, Seth G Disner, Scott R Sponheim, Thomas Straube, David Hofmann, Guang Ming Lu, Rongfeng Qi, Amit Etkin, Adi Maron-Katz, Xin Wang, Austin Kunch, Hong Xie, Yann Quidé, Wissam El-Hage, Shmuel Lissek, Hannah Berg, Steven E Bruce, Josh Cisler, Marisa Ross, Ryan Herringa, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine Larson, Terri A Deroon-Cassini, Carissa W Tomas, Jacklynn M Fitzgerald, Brandee Feola, Jennifer U Blackford, Bunmi O Olatunji, Geoffrey May, Steven M Nelson, Evan M Gordon, Chadi G Abdallah, Ruth Lanius, Maria Densmore, Jean Théberge, Richard W J Neufeld, Paul M Thompson, Rajendra A Morey

Faculty, Staff and Students Publications

The thalamus is a heterogeneous structure crucial for corticocortical communication, affective–perceptual integration, motor preparation, and memory-related functions. Posttraumatic stress disorder (PTSD) is characterized by various symptoms that likely relate to thalamic functions. Group-level and individual differential structural covariance (SC) analyses were conducted on intrathalamic, thalamocortical, and thalamosubcortical volumetric networks by segmenting structural MRI data from 2,784 subjects (PTSD n = 1,306; controls n = 1,478) into 25 thalamic nuclei per hemisphere. We found that PTSD was associated with stronger intrathalamic and thalamocortical network strength and stronger SC between the limbic thalamus and the somatomotor and auditory thalamus. PTSD severity was …

Utilizing A Culture System For Horizontal Cells To Study Neural Circuit Assembly In The Developing Mouse Retina, Ross M Perez, Yong H Park, Ajeet Singh, Collin Todora, Marlon F Mattos, Daniela Becerril, Rajashree Venkatraman, Arlene A Hirano, Nicholas C Brecha, Rinki Ratnapriya, Benjamin J Frankfort, Elizabeth Zuniga-Sanchez

Faculty, Staff and Students Publications

The precise wiring of the nervous system relies on neurons extending their processes at the right time and place to find their appropriate synaptic partner. The mechanisms that determine when and where neurons extend their neurites during synaptogenesis remains a central question in the field. In the present study, we used a cell culture system coupled with live imaging to investigate the wiring mechanisms in the developing mouse retina. We focused on horizontal cells which are a class of interneurons in the outer mouse retina known to synapse selectively to the distinct types of photoreceptors. Previous research has shown horizontal …

Using Lotilaner Ophthalmic Solution, 0.25% To Treat Demodex Blepharitis In Patients Who Were Initially Misdiagnosed: A Case Series, Laura M Periman, Richard Lindstrom, Paul Karpecki, Brandon Ayres, Eric Donnenfeld, Marjan Farid, Ian Benjamin Gaddie, Preeya K Gupta, Selina Mcgee, Kelly K Nichols, Stephen Pflugfelder, Christopher E Starr, Nandini Venkateswaran, Elizabeth Yeu, Cecelia Koetting

Faculty, Staff and Students Publications

Introduction: Demodex blepharitis (DB) is a chronic ocular inflammation caused by Demodex mite infestation of the eyelid. DB is often misdiagnosed, as some of its clinical findings and patient-reported outcomes overlap with those of other ocular surface diseases. The Demodex Expert Panel on Treatment and Eyelid Health (DEPTH) has reached consensus on the symptomatology, diagnosis, and treatment of DB. Consensus findings from the DEPTH group include that collarettes are pathognomonic for DB and that lotilaner ophthalmic solution, 0.25%, the first and only FDA-approved treatment for DB, should be the first-line treatment for the disease. This case series highlights two instances …

Common And Recurrent Dysregulated Molecular Network Of Placental Hypoxia And Associated Vasculogenesis And Angiogenesis In Fetal Growth Restriction, Wei Li, Xiaoyi Bai, Oi Ka Chan, Maran Bo Wah Leung, So Ling Lau, Chi Chiu Wang, Tak Yeung Leung

Faculty, Staff and Students Publications

Fetuses with fetal growth restriction (FGR) and selective FGR (sFGR) face elevated health risks both before and after birth. Although the underlying pathomechanisms remain unclear, placental dysfunction is recognized as a major contributing factor. By integrating untargeted transcriptomic data from FGR/sFGR placentae, this study identified 69 differentially expressed mRNAs (DEmRs) and eight differentially expressed miRNAs (DEmiRs). Functional enrichment analysis demonstrated significant enrichment in the angiogenesis and vasculogenesis pathways, with the hypoxia-related genes

Combination Therapy With 308-Nm Excimer Laser, Compound Glycyrrhizin, And Tacrolimus For Pediatric Facial And Cervical Vitiligo, Yingying Qian, Yafen Wu, Wei Li, Qian Chen, Siyuan Song, Ting Zhang

Faculty, Staff and Students Publications

Background: Vitiligo is a common acquired depigmenting disorder in pediatric dermatology. Facial and cervical involvement is particularly distressing due to cosmetic disfigurement, leading to psychosocial impairment in children and significant psychological burden for parents. Safe and effective treatment strategies to halt disease progression and promote repigmentation are urgently needed.

Objective: To evaluate the clinical efficacy, onset of repigmentation, safety, and repigmentation patterns of 308-nm excimer laser combined with oral compound glycyrrhizin and topical 0.03% tacrolimus in children with facial and cervical vitiligo.

Methods: A total of 112 pediatric patients were randomized into two groups: treatment group (n=56, 86 lesions) received …

A Comparative Analysis Of The Sport Mental Health Assessment Tool (Smhat-1) Between Paediatric And Adult Olympic And Paralympic Athletes, Ashley N Triplett, Travis Anderson, Eric G Post, Jessica Bartley, Jeffrey S Shilt, Eric L Dugan, Amber Donaldson, Jonathan Finnoff, William M Adams

Faculty, Staff and Students Publications

Objective: To determine if paediatric athletes exhibit differences in positive screenings on the Sport Mental Health Assessment Tool (SMHAT-1) compared with adults.

Methods: Team USA Olympic and Paralympic paediatric athletes ≤21 years (n=589; 58.8% female; age=19.5±1.7 years) completed the SMHAT-1 between January 2021 and September 2024. A comparative sample of Team USA adult athletes (n=493, 54.2% female; age=27.3±4.9 years) matched for sex and sport was randomly sampled, and the percentage of athletes with a positive screening on each questionnaire was calculated. χ2 analysis compared the proportion of positive screenings between paediatric and adult samples. Piecewise linear regression assessed the association …

Functional Analysis Of Genes Enriched In Male Reproductive Organs: Validation Via Fertility Assessment Of 14 Knockout Mouse Lines, Kazumasa Takemoto, Katarzyna Kent, Kaori Nozawa, Shingo Tonai, Ahn H Pham, Terumi Fujimoto, Thomas X Garcia, Martin M Matzuk, Masahito Ikawa, Keizo Tokuhiro

Faculty, Staff and Students Publications

Tissue-restricted gene expression serves as a key indicator of functional importance within specific organs. Despite advances in high-throughput sequencing and genome editing over the past decade, this principle remains the gold standard for identifying candidate genes for functional studies. In reproductive biology, testis-restricted expression is anticipated to indicate genes crucial for gametogenesis, given the conserved features shared between spermatogenesis and oogenesis. Concurrently, rapid evolution of spermatogenesis-related genes is well documented and thought to arise through duplication and subsequent mutation of ubiquitously expressed genes. In this study, we established 14 knockout (KO) mouse lines for male reproductive organ-enriched genes, all of …

Challenges In The Diagnosis Of Concurrent T-Lymphoblastic Leukemia/Lymphoma And Thymic Neuroendocrine Carcinoma: A Case Report, Kristen Oliveira, Mary Doan, Ying Pei, Marwan Yared, Songlin Zhang

Faculty, Staff and Students Publications

The co-occurrence of T-lymphoblastic leukemia/lymphoma and thymic neoplasia is a rare event that can present a diagnostic challenge. In this case report, we describe a 31-year-old man who was found to have thymic neuroendocrine carcinoma and T-lymphoblastic leukemia/lymphoma 2 years after initial treatment for T-lymphoblastic leukemia/lymphoma. The thymic neuroendocrine carcinoma was initially detected in a malignant pleural effusion, and a retrospective review of a preceding lung biopsy suggested the involvement of both tumors within one tissue sample. Immunohistochemical analysis was imperative in highlighting these two elements because despite their unique cytomorphological characteristics, a limited amount of each component was seen …

Pd-L1-Centric Whole Blood-Based Immune Signature Profiles Of Tuberculosis Patients During Therapy, Johanna Eggeling, Martina Sester, Christoph Lange, Jan Heyckendorf, Barbara Kalsdorf, Anna M Mandalakas, Andrew R Dinardo, David Lewinsohn, Dagmar Schaub, Tina Schmidt, Eva Tolosa, Maja Reimann, Patricia M Sánchez Carballo

Faculty, Staff and Students Publications

This prospective study investigated whole blood-based immune cell biomarkers for pulmonary tuberculosis (TB) immunoprofiling. Blood samples from 34 healthy controls and 51 tuberculosis patients were analyzed at three timepoints: Prior to therapy (T0), after 14 days of therapy (T1), and at the end of treatment (Te). Using multiparameter flow cytometry, 386 immune cell populations were analyzed. Predictive models were developed using two machine learning algorithms. A TB5LF change score, which was based on five cell populations, effectively distinguished tuberculosis patients from controls (AUC = 0.89) and tuberculosis patients before and at the end of treatment (AUC = 0.92). Similarly, the …

A Year In Review On Tuberculosis And Non-Tuberculous Mycobacteria Disease: A 2026 Update For Clinicians And Scientists, Simone Tunesi, Graham Bothamley, Gunar Günther, Yousra Kherabi, Liga Kuksa, Berit Lange, Christoph Lange, Natalie Lorent, Francesca Saluzzo, Martina Sester, Xenia Emilie Sinding Iversen, Marc Tebruegge, Conor Tweed, Anca Vasiliu, Lorenzo Guglielmetti, Tuberculosis Network European Trials Group (Tbnet)

Faculty, Staff and Students Publications

Background: Tuberculosis (TB) remains a major cause of morbidity and mortality worldwide, while infections from non-tuberculous mycobacteria (NTM) represent a growing public health threat. In its 20th year of activity, the Tuberculosis Network European Trials group (TBnet; www.tbnet.eu) is one of the leading research networks in Europe. In this review, we summarize the main advances in TB and NTM that occurred in 2025.

Methods: We conducted a non-systematic review of articles published in 2025, with a strong emphasis on research with current or potential impact on clinical practice. We also selected the most impactful papers regarding the management of adult …

Updates In The Management Of Peanut Allergy, S Shahzad Mustafa, Aikaterini Anagnostou, Matthew Greenhawt

Faculty, Staff and Students Publications

Peanut allergy is a significant rising public health problem affecting both children and adults. Early peanut introduction has been adopted in multiple westernized nations as a preventative strategic measure to reduce the risk of developing peanut allergy, although implementation faces barriers. Multiple therapies to treat peanut allergy have been developed, including oral immunotherapy and omalizumab as approved treatments to provide protection against reactions from accidental exposure and reduce the risk of anaphylaxis, offering options beyond strict avoidance. Strategies in the developmental pipeline include epicutaneous immunotherapy and sublingual immunotherapy. The future is bright for individuals with peanut allergy, as these breakthroughs …

Improving Compliance With Safe Sleep Guidelines For Vulnerable Patients In A Community Safety Net Hospital Neonatal Intensive Care Unit, Andrew Beverstock, Samantha Carlton, Hillary Lee, Thomas Lu, Kelsi Morgan, Ashlee Smith-Patel, Kelli Phillips, Joseph Hagan, Pablo Lohmann, Caraciolo Fernandes, Lisa Owens, Daniela Dinu

Faculty, Staff and Students Publications

Objectives: Congenital diaphragmatic hernia (CDH) often coexists with fetal growth restriction (FGR). The observed-to-expected (O/E) total fetal lung volume (TFLV) is used to assess CDH severity, predict outcomes, and direct fetal interventions. Expected TFLV measurements traditionally rely only on gestation age (GA). This simulation assesses how incorporating weight-adjusted GA norms affects O/E TFLV calculations in patients with isolated CDH and FGR.

Methods: A simulated dataset (n=1,005) utilized published mean fetal weight and TFLV references. Computer-generated variables included observed weights (3rd-10th %ile), O/E TFLV (10-65 %), and percent liver herniation (0-42 %). GA estimates were corrected by weight and used to …