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Development And Implementation Of Educational Modules On Management Of Neonates With Critical Congenital Heart Disease In The Delivery Room (Learn-Chd)., Noorjahan Ali, Brenda Law, Alyssa R. Thomas, Philip T. Levy, Ruby Gupta, Summer Elshenawy, Danielle Reed, Leeann R. Pavlek, Jennifer Shepherd, Sharada H. Gowda, Molly K. Ball, Beth Ann Johnson, Chloe Joynt Jul 2026

Development And Implementation Of Educational Modules On Management Of Neonates With Critical Congenital Heart Disease In The Delivery Room (Learn-Chd)., Noorjahan Ali, Brenda Law, Alyssa R. Thomas, Philip T. Levy, Ruby Gupta, Summer Elshenawy, Danielle Reed, Leeann R. Pavlek, Jennifer Shepherd, Sharada H. Gowda, Molly K. Ball, Beth Ann Johnson, Chloe Joynt

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Neonates with congenital heart disease may require delivery room interventions beyond standard care. Because existing guidelines and educational programs rarely address these needs, we developed and evaluated targeted educational modules.

METHODS: Teams were randomized to online eLearning modules or directed readings. Individual pre-/post-knowledge scores were compared. Team performance was tested in simulated delivery scenarios including abruption, hypoplastic left heart syndrome, d-transposition of great arteries and congenital complete heart block.

RESULTS: 32 teams from 9 centers participated. The module group had improved knowledge scores (mean change 6% vs -0.3% e-Learning group, p = 0.01). Simulation performance was similar between groups …


Not Just A Pediatric Condition: Down Syndrome Across The Lifespan., Emily Haury, Jacqueline Kitchen, Brenda Rogers Jul 2026

Not Just A Pediatric Condition: Down Syndrome Across The Lifespan., Emily Haury, Jacqueline Kitchen, Brenda Rogers

Manuscripts, Articles, Book Chapters and Other Papers

With increasing life expectancy for individuals with Down Syndrome (DS), there are growing numbers of adult DS patients needing care from primary care physicians who are knowledgeable regarding their health needs and risks. The Global Down Syndrome Foundation (GDSF) Medical Care Guidelines for Adults with Down Syndrome identify important areas of focus: mental health, dementia, diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, hypothyroidism and celiac disease. Additionally, there are unique considerations regarding cancer risk and screenings, as well as vaccination. Young adults with DS should have a structured transition from pediatric to adult care like any patient with chronic illness …


Evaluation Of The Impact Of A Pathology Trainee-Driven Manual Review Process For Reference Testing At A Large Academic Center, Carly Maucione, Christopher W Farnsworth, Mark A Zaydman Jul 2026

Evaluation Of The Impact Of A Pathology Trainee-Driven Manual Review Process For Reference Testing At A Large Academic Center, Carly Maucione, Christopher W Farnsworth, Mark A Zaydman

2020-Current year OA Pubs

BACKGROUND: Increasing reliance on and complexity of laboratory testing necessitates laboratory stewardship initiatives to ensure appropriate test ordering, especially as reference testing costs continue to rise. Prospective manual review processes, although demanding of resources, have been shown to be cost-effective, but literature addressing the value of such a process is lacking.

METHODS: The pathology trainee-driven manual review process of 444 chemistry and microbiology tests on approval at a large academic center was reviewed. Data were extracted from an internal-use call-log and analyzed for test volumes, cancellation rates, and cost savings. A hypergeometric distribution was used to model random variation in …


Enhancing Validation Of Case-Control Omics Signatures Through "Minimalist" Single-Subject Analysis (N-Of-1 Trials): Proof Of Concept In Sepsis, Liam S Wilson, Nima Pouladi, Rachel F Nelson, Elizabeth A Middleton, Neal D Tolley, Mahdieh Shabanian, Colleen Kenost, Robert A Campbell, Matthew T Rondina, Yves A Lussier Jul 2026

Enhancing Validation Of Case-Control Omics Signatures Through "Minimalist" Single-Subject Analysis (N-Of-1 Trials): Proof Of Concept In Sepsis, Liam S Wilson, Nima Pouladi, Rachel F Nelson, Elizabeth A Middleton, Neal D Tolley, Mahdieh Shabanian, Colleen Kenost, Robert A Campbell, Matthew T Rondina, Yves A Lussier

2020-Current year OA Pubs

OBJECTIVE: To evaluate if a single-subject study (S3) design, utilizing paired transcriptome samples from the same patient (eg, "sepsis" vs "recovered"), can replicate transcriptomic signatures from small case-control studies, addressing challenges in patient accrual for rare or sub-stratified diseases.

METHODS: We generated a sepsis gene signature (SGS) comprising 300 differentially expressed genes (DEGs; FDR <  5%) from a human sepsis case-control cohort using general linear models (GLMs). Reproducibility of SGS was assessed through three approaches applied to sub-sampled independent datasets: single-subject analyses (N-of-1-MixEnrich), anticipated to perform better; conventional paired-sample GLM analyses; and a traditional case-control GLM analysis.

RESULTS: SGS reproducibility in GLM analyses was inconsistent at smaller cohort sizes (∼80% reproducibility; n = 5) but stabilized at cohort sizes >6. Remarkably, the single-subject-study approach consistently reproduced SGS in each of the 18 subjects individually (100% reproducibility; n = 1).

DISCUSSION: Conventional GLMs are …


Extending The Fundamental Theorem Of Biomedical Informatics For The Ai Era, Philip R O Payne, Jonathan H Chen, Christopher A Longhurst Jul 2026

Extending The Fundamental Theorem Of Biomedical Informatics For The Ai Era, Philip R O Payne, Jonathan H Chen, Christopher A Longhurst

2020-Current year OA Pubs

BACKGROUND: Charles Friedman's Fundamental Theorem of Biomedical Informatics holds that a person working in partnership with an information resource outperforms that same person unassisted. Since its publication, advances in artificial intelligence (AI), adaptive learning systems, and large-scale data infrastructures have transformed the biomedical ecosystem, extending informatics beyond clinical care into domains such as public health, consumer health, translational science, and the broader life sciences. Such expansion has further underscored the importance of the Fundamental Theorem while also elucidating ways it can be expanded to meet current needs.

OBJECTIVE: To reassess and extend the Fundamental Theorem for the AI era in …


Integration Of A Task Strengthening Strategy For Hypertension Management Into Hiv Care In Nigeria: Baseline Characteristics Of Participants In A Cluster Randomized Controlled Trial, Weixi Chen, Juliet Iwelunmor, Et Al. Jul 2026

Integration Of A Task Strengthening Strategy For Hypertension Management Into Hiv Care In Nigeria: Baseline Characteristics Of Participants In A Cluster Randomized Controlled Trial, Weixi Chen, Juliet Iwelunmor, Et Al.

2020-Current year OA Pubs

BACKGROUND: Improved access to antiretroviral therapy (ART) has increased survival among people living with HIV (PLWH) but also the burden of cardiovascular risk factors like hypertension. While the task-strengthening strategy for hypertension control (TASSH) is a viable integrated care model, evidence of its clinical impact in Africa is limited. This report presents baseline findings from a trial evaluating 2 implementation strategies for integrating TASSH into HIV care across primary health centers (PHCs) in Lagos, Nigeria.

METHODS: A total of 3,504 PLWH on antiretroviral therapy in 30 PHCs were screened, and 830 were enrolled. Baseline data on patient sociodemographic, clinical, laboratory …


Association Between Thumb Hypoplasia, Radial Longitudinal Deficiency, And Radial Polydactyly, Emma Payne, Charles A Goldfarb, M Claire Manske, Apurva Shah, Andrea Bauer, Lindley B Wall, Could Study Group Jul 2026

Association Between Thumb Hypoplasia, Radial Longitudinal Deficiency, And Radial Polydactyly, Emma Payne, Charles A Goldfarb, M Claire Manske, Apurva Shah, Andrea Bauer, Lindley B Wall, Could Study Group

2020-Current year OA Pubs

PURPOSE: The expression of the sonic hedgehog protein has been associated with induction of both radial longitudinal deficiency (RLD) and radial polydactyly in animal studies. We sought to investigate the co-occurrence of thumb hypoplasia/RLD and radial polydactyly in a large registry patient cohort and to investigate the clinical presentations of such patients.

METHODS: The Congenital Upper Limb Differences (CoULD) registry was queried for all patients with contralateral diagnoses of thumb hypoplasia/RLD and radial polydactyly, as defined by the Oberg-Manske-Tonkin classification system, between June 2014 and January 2026. The demographic information, medical and musculoskeletal comorbidities, radiographs, and clinical images were collected. …


Brain Volumes In Fetuses With Congenital Heart Disease And Placental Vascular Abnormalities, Erin A O'Brien, Kaylin Taylor, Joshua S Shimony, Cynthia M Ortinau, Et Al. Jul 2026

Brain Volumes In Fetuses With Congenital Heart Disease And Placental Vascular Abnormalities, Erin A O'Brien, Kaylin Taylor, Joshua S Shimony, Cynthia M Ortinau, Et Al.

2020-Current year OA Pubs

OBJECTIVE: Investigate the association between placental vascular abnormalities and regional brain volumes in congenital heart disease (CHD) fetuses with and without genetic abnormalities.

STUDY DESIGN: Secondary analysis of brain magnetic resonance imaging (MRI) and placental pathology data from 121 CHD fetuses enrolled in prospective neuroimaging studies at two centers.

RESULTS: Placental vascular abnormality was present in 46% of fetuses, and genetic abnormality was present in 19%, including 12% with both abnormalities. Fetuses with the combination of placental and genetic abnormalities had smaller brain volumes compared to fetuses without either abnormality for total brain, subcortical gray matter, brainstem, and cerebellum, with …


Homework Adherence In Exposure-Based Cbt For Youth With Obsessive-Compulsive Disorder: Clinical Outcomes And Predictors Across Treatment, Abigail E Pine, Qimin Liu, Eric A Storch, Daniel A Geller, Brent J Small, Sabine Wilhelm, Joseph F Mcguire Jul 2026

Homework Adherence In Exposure-Based Cbt For Youth With Obsessive-Compulsive Disorder: Clinical Outcomes And Predictors Across Treatment, Abigail E Pine, Qimin Liu, Eric A Storch, Daniel A Geller, Brent J Small, Sabine Wilhelm, Joseph F Mcguire

Faculty, Staff and Students Publications

Exposure-based cognitive behavioral therapy (CBT) is the frontline treatment for pediatric obsessive-compulsive disorder (OCD), but not all youth fully respond to this treatment. While multiple factors may influence CBT response, homework adherence in CBT is a modifiable target that can improve treatment outcomes. This report examines the relationship between homework adherence and clinical outcomes in a large sample of youth with OCD who received exposure-based CBT. Here, 137 youth with OCD between 7 and 17 years old (M = 12.42, SD = 2.88) participated in a randomized controlled trial of exposure-based CBT. Homework adherence was monitored weekly, and OCD severity …


Patient Perspectives On Psychiatric Polygenic Risk Scores In Reproductive Decision-Making And Polygenic Embryo Screening., Lauren A Ginn, Amanda R Merner, Page M Trotter, Kaitlynn P Craig, Abigail C Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M Ayton, Takahiro Soda, Eric A Storch, Gabriel Lázaro-Muñoz, Stacey Pereira Jul 2026

Patient Perspectives On Psychiatric Polygenic Risk Scores In Reproductive Decision-Making And Polygenic Embryo Screening., Lauren A Ginn, Amanda R Merner, Page M Trotter, Kaitlynn P Craig, Abigail C Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M Ayton, Takahiro Soda, Eric A Storch, Gabriel Lázaro-Muñoz, Stacey Pereira

Center for Medical Ethics and Health Policy Staff Publications

Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome-wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions. As individuals with mental illness often identify concern about passing on psychiatric conditions as a key factor in family planning, some may also seek to use psychiatric PRS in reproductive decisions like childbearing or embryo selection for in vitro fertilization. Despite calls for increased regulation, there remains no clinical consensus on the utility of psychiatric PRS in reproductive contexts. Therefore, we conducted semi-structured interviews of adults with …


An Integrated Cardiometabolic Genetic Testing Program In A Predominantly Hispanic Population Within A Community Setting, Bo Yuan, Layla A Abushamat, Stacey Pereira, Surya Narayan Mulukutla, Grace E Tietz, Eric Venner, Sara E Kalla, Breanna Lee, Donna Muzny, Ginger Metcalf, Mullai Murugan, Sarah H Elsea, Senkottuvelan Kadirvel, Lele Li, Joshi Stephen, Shengfeng Xu, Victoria Yi, Monica Sulit, Christie L Kovar, Kimberly Walker, Marie-Claude Gingras, Jianhong Hu, Fei Yan, Taeko Gerber, Viktoriya Korchina, C Michael Fordis, Ruchi Gaba, Mahesh Changlani, Herschl Silberman, Hadley Stevens Smith, Christine M Eng, Jennifer E Posey, Clarisa Medina, Lisa R Treviño, Christie M Ballantyne, Richard A Gibbs, Ashok Balasubramanyam Jul 2026

An Integrated Cardiometabolic Genetic Testing Program In A Predominantly Hispanic Population Within A Community Setting, Bo Yuan, Layla A Abushamat, Stacey Pereira, Surya Narayan Mulukutla, Grace E Tietz, Eric Venner, Sara E Kalla, Breanna Lee, Donna Muzny, Ginger Metcalf, Mullai Murugan, Sarah H Elsea, Senkottuvelan Kadirvel, Lele Li, Joshi Stephen, Shengfeng Xu, Victoria Yi, Monica Sulit, Christie L Kovar, Kimberly Walker, Marie-Claude Gingras, Jianhong Hu, Fei Yan, Taeko Gerber, Viktoriya Korchina, C Michael Fordis, Ruchi Gaba, Mahesh Changlani, Herschl Silberman, Hadley Stevens Smith, Christine M Eng, Jennifer E Posey, Clarisa Medina, Lisa R Treviño, Christie M Ballantyne, Richard A Gibbs, Ashok Balasubramanyam

Center for Medical Ethics and Health Policy Staff Publications

Purpose: This study aimed to apply cardiometabolic genetic testing in a community setting with a predominantly Hispanic population and assess feasibility and perspectives toward genetic testing.

Methods: A genome-sequencing-based genetic panel for cardiometabolic disorders (177 genes related to monogenic conditions, 2 LPA risk alleles, 2 pharmacogenomic loci, and ancestry-adjusted polygenic risk scores for type 2 diabetes and coronary artery disease) was deployed in community cardiology and endocrinology clinics in South Texas. A survey on perceptions toward genetic testing was administered after return of results.

Results: Testing was completed for 776 patients (18-92 years old, 92% Hispanic). 26 patients (3.4%) were …


Biphasic Sleep Is A Feature Of Sleep Disturbance In Syngap1-Rd, Aida Doucoure, Het Patel, Mark A Abboud, Alice Sperry, Sarah K Wanigatunga, Deana Crocetti, Heather Volk, Adam P Spira, Stewart H Mostofsky, Vaishnav Krishnan, Constance Smith-Hicks Jul 2026

Biphasic Sleep Is A Feature Of Sleep Disturbance In Syngap1-Rd, Aida Doucoure, Het Patel, Mark A Abboud, Alice Sperry, Sarah K Wanigatunga, Deana Crocetti, Heather Volk, Adam P Spira, Stewart H Mostofsky, Vaishnav Krishnan, Constance Smith-Hicks

Faculty, Staff and Students Publications

Study objectives: Sleep problems are common in children with SYNGAP1-Related Disorder (SYNGAP1-RD). The use of devices that objectively estimate sleep are complicated by co-occurring sensory disorders in this population. We examined the feasibility and validity of wrist actigraphy to examine sleep and rest-activity rhythms (RAR).

Methods: Data from five children with SYNGAP1-RD and 42 typically developing children were analyzed. All children were asked to wear the Actiwatch-2 for 14 continuous days and caregivers were asked to complete a sleep diary and the Children Sleep Health Questionnaire (CSHQ). Parametric (alpha, beta, acrophase, amplitude, up/down mesor, mesor), nonparametric (intradaily variability, interdaily stability, …


Zeb1 Modifies Ve-Cadherin Signaling In Lymphatic Endothelial Cells, Nada S Ahmed, Joseph L Horder, Charles T Cresswell, Poppy E Harris, Amy P Lynch, Zarah B Tabrizi, Kathryn R Green, James H Hallwood, Anton C Smith, Michael A Portelli, Alexander J Fezovich, Christos Spanos, David S Gardner, Alan Mcintyre, Sarah J Storr, Daniel G Booth, David O Bates, Andrew V Benest Jul 2026

Zeb1 Modifies Ve-Cadherin Signaling In Lymphatic Endothelial Cells, Nada S Ahmed, Joseph L Horder, Charles T Cresswell, Poppy E Harris, Amy P Lynch, Zarah B Tabrizi, Kathryn R Green, James H Hallwood, Anton C Smith, Michael A Portelli, Alexander J Fezovich, Christos Spanos, David S Gardner, Alan Mcintyre, Sarah J Storr, Daniel G Booth, David O Bates, Andrew V Benest

Faculty, Staff and Students Publications

Objective: Zinc finger E-box-binding homeobox 1 (ZEB1) is a transcription factor primarily known for its regulatory roles in epithelial-to-mesenchymal transition (EMT) and cell fate determination. Recent studies suggest that endothelial ZEB1 signaling promotes blood vessel growth and reduces junctional integrity, although the underlying mechanisms remain unclear. Notably, the role of ZEB1 in the lymphatic vasculature is unknown, and the regulation of lymphatic integrity by VE-cadherin remains poorly defined.

Methods: Here, using an integrated proteomic and transcriptomic approach, we identify ZEB1-dependent signaling pathways associated with cell-cell junction reorganization in lymphatic endothelial cells (LECs).

Results: Loss of ZEB1 reduced VE-cadherin phosphorylation at …


Ebneo Commentary: The Lakana Trial: Mass Administration Of Azithromycin To Infants In Mali Did Not Reduce Mortality, Maya I Brasher, Monika S Patil Jul 2026

Ebneo Commentary: The Lakana Trial: Mass Administration Of Azithromycin To Infants In Mali Did Not Reduce Mortality, Maya I Brasher, Monika S Patil

Faculty, Staff and Students Publications

The LAKANA trial: a randomized control trial evaluating the impact of mass administration of azithromycin to infants 1 to 11 months of age in Mali showed no reduction in mortality.


Longitudinal And Cross-Sectional Evidence That Daily Resting And Activity Energy Expenditures Are Independent In Humans, Andrew K Yegian, Elizabeth Pachus, Leanne M Redman, Steven B Heymsfield, K Falkenhain, Alexandra R Harris, Shaji K Chacko, William W Wong, Daniel E Lieberman Jul 2026

Longitudinal And Cross-Sectional Evidence That Daily Resting And Activity Energy Expenditures Are Independent In Humans, Andrew K Yegian, Elizabeth Pachus, Leanne M Redman, Steven B Heymsfield, K Falkenhain, Alexandra R Harris, Shaji K Chacko, William W Wong, Daniel E Lieberman

Faculty, Staff and Students Publications

Total energy expenditure (TEE) is commonly modelled as the sum of resting energy expenditure (REE), activity energy expenditure (AEE), and diet-induced thermogenesis (DIT). This additive model has recently been challenged by the constrained energy balance model, which proposes that reductions in mass-adjusted REE compensate to some extent for increases in AEE, rendering mass-adjusted TEE effectively invariant. We tested these competing models using two complementary approaches. First, we conducted a short-term longitudinal, repeated-measures experiment in 12 adults who completed 10-day periods of high and low physical activity separated by a washout period. TEE was measured with doubly labelled water, AEE with …


Caregiver Satisfaction With Anxiety Treatment For Autistic Youth: A Mixed Methods Examination, Lesley A Norris, Jonathan C Rabner, Marika Marklin, Margaret E Crane, Kathrin Renschler, Emma Jenkins, Joshua Kemp, Eric A Storch, Jeffrey J Wood, Connor M Kerns, Adam B Lewin, Brent J Small, Philip C Kendall Jul 2026

Caregiver Satisfaction With Anxiety Treatment For Autistic Youth: A Mixed Methods Examination, Lesley A Norris, Jonathan C Rabner, Marika Marklin, Margaret E Crane, Kathrin Renschler, Emma Jenkins, Joshua Kemp, Eric A Storch, Jeffrey J Wood, Connor M Kerns, Adam B Lewin, Brent J Small, Philip C Kendall

Faculty, Staff and Students Publications

For Cognitive Behavioral Therapy to best meet the specific needs of autistic youth with co-occurring anxiety and to continue to grow as a sustainable treatment option, it is important to incorporate caregiver perspectives and feedback. Data were drawn from a randomized controlled trial and included 148 caregivers of autistic youth (ages 7-13 years, M = 9.89, SD = 1.79; 23% female; 77.7% White) with co-occurring anxiety disorders randomized to one of two active treatment conditions (Coping Cat, n = 72, or Behavioral Interventions for Anxiety in Children with Autism [BIACA], n = 76). A systematic inductive thematic analysis was used …


Reciprocal Compensation Of Caspase-2 And P53 Regulates The Dna Damage Response In Hct116 Colon Cancer Cells, Karla E Lopez, Leslie Bandera, Luiza E Coutinho, Karen Zúñiga, Sarah Wright, Lisa Bouchier-Hayes Jul 2026

Reciprocal Compensation Of Caspase-2 And P53 Regulates The Dna Damage Response In Hct116 Colon Cancer Cells, Karla E Lopez, Leslie Bandera, Luiza E Coutinho, Karen Zúñiga, Sarah Wright, Lisa Bouchier-Hayes

Faculty, Staff and Students Publications

Caspase-2 has positive and negative effects on tumor growth in different cancer models. The mechanisms determining these dual outcomes of caspase-2 activation are unclear underscoring the need to assess caspase-2 function in different cell types. We report that high caspase-2 expression is associated with lower survival in patients with colon cancer and increased tumor size in HCT116 colon cancer xenografts. We investigated the interplay between caspase-2 and p53 in regulating the proliferation of these cells. While neither of these proteins had much of an effect on cell cycle arrest on their own, deficiency in both caspase-2 and p53 led to …


Asynchronous Transitions From High-Risk Hepatoblastoma To Carcinoma, Xinjian Yu, Stephen Sarabia, Martin Urbicain, Sonal Somvanshi, Roma Patel, Priyanka Rao, Tuan M Tran, Yen-Ping Yeh, Keng-Shih Chang, Yi-Tzu Lo, Jessica Epps, Kathleen A Scorsone, Hua-Sheng Chiu, Emporia Faith Hollingsworth, Cintia R Perez, Mohammad Javad Najaf Panah, Barry Zorman, Jordan Muscal, Milton J Finegold, John A Goss, Rita Alaggio, Angshumoy Roy, Kevin E Fisher, Andras Heczey, Sarah Woodfield, Sanjeev Vasudevan, Kalyani Patel, Ting-Wen Chen, Dolores Lopez-Terrada, Pavel Sumazin Jul 2026

Asynchronous Transitions From High-Risk Hepatoblastoma To Carcinoma, Xinjian Yu, Stephen Sarabia, Martin Urbicain, Sonal Somvanshi, Roma Patel, Priyanka Rao, Tuan M Tran, Yen-Ping Yeh, Keng-Shih Chang, Yi-Tzu Lo, Jessica Epps, Kathleen A Scorsone, Hua-Sheng Chiu, Emporia Faith Hollingsworth, Cintia R Perez, Mohammad Javad Najaf Panah, Barry Zorman, Jordan Muscal, Milton J Finegold, John A Goss, Rita Alaggio, Angshumoy Roy, Kevin E Fisher, Andras Heczey, Sarah Woodfield, Sanjeev Vasudevan, Kalyani Patel, Ting-Wen Chen, Dolores Lopez-Terrada, Pavel Sumazin

Faculty, Staff and Students Publications

Background & aims: Most pediatric hepatocellular tumors are classified as hepatoblastoma (HB) or hepatocellular carcinoma (HCC), yet a subset exhibits mixed histological and molecular features. These hepatoblastomas with carcinoma features (HBCs) include cases provisionally designated as hepatocellular neoplasm-not otherwise specified (HCN-NOS). Their biology remains poorly understood, with unresolved questions about their cellular composition and outcomes. It is unclear whether HBCs comprise hybrid cells with combined HB and HCC characteristics (HBC cells) or admixtures of distinct HB and HCC cells. We characterized the biology, etiology, cellular composition, and evolutionary dynamics of HBCs.

Methods: We performed multi-omics profiling - including single-nucleus RNA …


A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura Jul 2026

A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura

Faculty, Staff and Students Publications

In 2016, the Japan Children's Cancer Group launched a nationwide research initiative to provide central diagnosis incorporating pathology review and molecular profiling for pediatric central nervous system (CNS) tumors. Over the first eight years, 2224 cases were registered. Non-next-generation sequencing analyzes, such as pyrosequencing and NanoString, were routinely performed, mainly for glioma, medulloblastoma, and ependymoma. Additional analyzes, including methylation profiling and RNA sequencing, were conducted for selected diagnostically challenging cases. The most common diagnoses were low-grade glioma (26%), medulloblastoma (18%), germ cell tumor (16%), high-grade glioma (12%), and ependymoma (11%). Diagnostic or targetable alterations were detected in nearly half of …


Age-Appropriate Low Dosing For Food Protein-Induced Enterocolitis Syndrome Oral Food Challenges: Proposing A Standardized Approach, Sara Anvari, Mary Grace Baker, Theresa Bingemann, J Andrew Bird, Terri Brown-Whitehorn, Antonella Cianferoni, Raquel Durban, Malika Gupta, Erin Hosein, George Konstantinou, Stephanie Leonard, Melanie A Ruffner, Allison Schaible, Amy M Scurlock, Pooja Varshney, Antonella Muraro, Alessandro Fiocchi, Alexandra F Santos, Stefania Arasi, Marta Vazquez-Ortiz, Hideaki Morita, Ichiro Nomura, Julia E M Upton, Michael Levin, Eric Lee, Cesar Galvan, Rodrigo Hoyos-Bachiloglu, Pantipa Chatchatee, Kirsten Beyer, George Du Toit, Purificacion Gonzalez-Delgado, Lydia Su Yin Wong, Marion Groetch, Anna Nowak-Wegrzyn Jul 2026

Age-Appropriate Low Dosing For Food Protein-Induced Enterocolitis Syndrome Oral Food Challenges: Proposing A Standardized Approach, Sara Anvari, Mary Grace Baker, Theresa Bingemann, J Andrew Bird, Terri Brown-Whitehorn, Antonella Cianferoni, Raquel Durban, Malika Gupta, Erin Hosein, George Konstantinou, Stephanie Leonard, Melanie A Ruffner, Allison Schaible, Amy M Scurlock, Pooja Varshney, Antonella Muraro, Alessandro Fiocchi, Alexandra F Santos, Stefania Arasi, Marta Vazquez-Ortiz, Hideaki Morita, Ichiro Nomura, Julia E M Upton, Michael Levin, Eric Lee, Cesar Galvan, Rodrigo Hoyos-Bachiloglu, Pantipa Chatchatee, Kirsten Beyer, George Du Toit, Purificacion Gonzalez-Delgado, Lydia Su Yin Wong, Marion Groetch, Anna Nowak-Wegrzyn

Faculty, Staff and Students Publications

Current oral food challenge (OFC) protocols for food protein-induced enterocolitis syndrome (FPIES) exhibit significant variability, creating potential for inconsistent diagnostic outcomes and severe reactions. Based on the published evidence and our clinical experience, we propose a practical, standardized OFC dosing protocol that emphasizes patient safety, goals based on age-appropriate servings (AASs), and clinical monitoring. A recent systematic review reported that most patients with persistent FPIES who underwent OFCs reacted to just 25% of an AAS, with low rates of severe reactions. Thus, we recommend that most patients undergoing a medically supervised FPIES OFC receive a cumulative dose of 25% AAS, …


An Examination Of Buprenorphine And Norbuprenorphine Concentrations In Inpatients Receiving Medications For Opioid Use Disorder, Michèle Haykal, Benjamin Li, Andres Avellaneda Ojeda, Roberto Sanchez, Nancy Shenoi, Asim Shah, Nidal Moukaddam Jul 2026

An Examination Of Buprenorphine And Norbuprenorphine Concentrations In Inpatients Receiving Medications For Opioid Use Disorder, Michèle Haykal, Benjamin Li, Andres Avellaneda Ojeda, Roberto Sanchez, Nancy Shenoi, Asim Shah, Nidal Moukaddam

Faculty, Staff and Students Publications

Background: Interpretation of urine buprenorphine and norbuprenorphine concentrations is widely used to assess adherence during treatment for opioid use disorder. However, the relationships between dose, timing of sample collection, and metabolite ratios remain unclear, leading to potential misinterpretation in clinical practice.

Methods: Data were collected from patients on a psychiatry unit who were either inducted on or continued buprenorphine therapy and underwent urine testing for buprenorphine and its metabolite, norbuprenorphine. Urine samples were collected 16 to 786 min after the last buprenorphine dose. Norbuprenorphine-to-buprenorphine ratios were calculated. Data analysis using Python included polynomial regression and random forest models.

Results: Daily …


Blinded, Bias-Controlled Multi-Rater Evaluation Of Human-Versus-Ai Brain Metastasis Segmentation Using A Hybrid Foundation-Model Framework, Yiding Han, Enze Zhu, Mhd Hasan Ai Mekdash, Omar Awad, Piyush Pathak, Shixiao Liang, Daniel Allan Hamstra, Xizhe Zhang, Zaid Ali Siddiqui, Baozhou Sun Jul 2026

Blinded, Bias-Controlled Multi-Rater Evaluation Of Human-Versus-Ai Brain Metastasis Segmentation Using A Hybrid Foundation-Model Framework, Yiding Han, Enze Zhu, Mhd Hasan Ai Mekdash, Omar Awad, Piyush Pathak, Shixiao Liang, Daniel Allan Hamstra, Xizhe Zhang, Zaid Ali Siddiqui, Baozhou Sun

Faculty, Staff and Students Publications

Background: Accurate segmentation of brain metastases (BM) is essential for diagnosis, stereotactic radiosurgery planning, and longitudinal assessment. However, manual contouring is time-intensive, limiting clinical scalability, and exhibits substantial inter-observer variability. This variability complicates objective assessment of automated segmentation methods and challenges interpretation of model performance.

Purpose: To address these limitations, we developed TUM-SAM, a hybrid foundation-model framework for fully automated BM segmentation, and introduced a bias-controlled, blinded multi-rater evaluation paradigm to determine whether AI-based BM segmentation has reached expert-level performance and whether AI-generated contours are preferred by human experts under unbiased assessment.

Methods: TUM-SAM integrates nnU-Net-based lesion detection with a …


Adlm Guidance Document On Incorporating Gender Diversity In Pathology And Laboratory Medicine, Tiffany A Thomas, Gabrielle N Winston-Mcpherson, Ina Amarillo, Alisha D Berry, Caroline J Davidge-Pitts, Sridevi Devaraj, Zil Goldstein, Brad S Karon, Brooke M Katzman, Mahmoud A Khalifa, Hung S Luu, James H Nichols, Tracy L Stockley, Michelle R Stoffel, Dina N Greene, Matthew D Krasowski Jul 2026

Adlm Guidance Document On Incorporating Gender Diversity In Pathology And Laboratory Medicine, Tiffany A Thomas, Gabrielle N Winston-Mcpherson, Ina Amarillo, Alisha D Berry, Caroline J Davidge-Pitts, Sridevi Devaraj, Zil Goldstein, Brad S Karon, Brooke M Katzman, Mahmoud A Khalifa, Hung S Luu, James H Nichols, Tracy L Stockley, Michelle R Stoffel, Dina N Greene, Matthew D Krasowski

Faculty, Staff and Students Publications

Background: The first international clinical standards of care for the gender-diverse population were formulated in the late 1970s. In the last 15 years, multiple subspecialty societies within the United States have developed clinical care guidelines for those with gender dysphoria, including gender-affirming hormone therapy (GAHT) and surgical treatments. To date, there are no pathology- and laboratory medicine-specific recommendations in the United States for the gender-diverse population.

Content: This document outlines pathology- and laboratory medicine-specific recommendations for providing optimal care to the gender-diverse population, with a predominant focus on the adult population. The scope of this document focuses on the following …


Clinical Features And Dental Pathologies In Maxillary Sinus Fungal Balls And Odontogenic Sinusitis, Eunice Im, Lane Donaldson, Avraham Adelman, Nithin D Adappa, Yi-Wei Chen, Nikita Chapurin, Jennifer E Douglas, Glen E D'Souza, Jacob Eide, Maria Espinosa, Chia-Hsiang Fu, Meha G Fox, Rohit Garg, Edward C Kuan, Michael A Kohanski, Marta Kwiatkowska, Kevin Li, Derek H Liu, Tran Bao Locke, Chih-Feng Lin, Chadi Makary, Alice Ottavi, Peter Papagiannopoulos, James N Palmer, Charles C L Tong, Bobby A Tajudeen, Sanjena Venkatesh, Kimberly Wei, Frederick Yoo, Alison J Yu, Jun Jin, Alberto M Saibene, John R Craig Jul 2026

Clinical Features And Dental Pathologies In Maxillary Sinus Fungal Balls And Odontogenic Sinusitis, Eunice Im, Lane Donaldson, Avraham Adelman, Nithin D Adappa, Yi-Wei Chen, Nikita Chapurin, Jennifer E Douglas, Glen E D'Souza, Jacob Eide, Maria Espinosa, Chia-Hsiang Fu, Meha G Fox, Rohit Garg, Edward C Kuan, Michael A Kohanski, Marta Kwiatkowska, Kevin Li, Derek H Liu, Tran Bao Locke, Chih-Feng Lin, Chadi Makary, Alice Ottavi, Peter Papagiannopoulos, James N Palmer, Charles C L Tong, Bobby A Tajudeen, Sanjena Venkatesh, Kimberly Wei, Frederick Yoo, Alison J Yu, Jun Jin, Alberto M Saibene, John R Craig

Faculty, Staff and Students Publications

Objectives: While maxillary sinus fungal balls (MSFB) can be associated with odontogenic conditions (MSFBO), MSFBO clinical and dental features have not been compared to odontogenic sinusitis (ODS). This multicenter study aimed to compare characteristics of MSFB, MSFBO, and ODS.

Methods: A multicenter international retrospective cohort study was conducted on adults with MSFBs and ODS who underwent sinus surgery. First in MSFBs, it was determined whether different dental conditions were more likely in FB versus non-FB sides. Second, clinical features and dental pathologies were compared between MSFBO and ODS. For analyses, dental conditions were considered individually and as two groups: infectious …


Acute Intermittent Hypoxia And Acute Intermittent Hypercapnic Hypoxia Elicit Cortico-Diaphragmatic Plasticity In People With Chronic Spinal Cord Injury, Alysha Bogard, Michela Mir, Tommy Sutor, Jessica Dunn, Kathryn Cavka, Arian Vistamehr, Hannah Snyder, Joseph Welch, Jayakrishnan Nair, Gina Brunetti, Gordon Mitchell, Emily Fox Jul 2026

Acute Intermittent Hypoxia And Acute Intermittent Hypercapnic Hypoxia Elicit Cortico-Diaphragmatic Plasticity In People With Chronic Spinal Cord Injury, Alysha Bogard, Michela Mir, Tommy Sutor, Jessica Dunn, Kathryn Cavka, Arian Vistamehr, Hannah Snyder, Joseph Welch, Jayakrishnan Nair, Gina Brunetti, Gordon Mitchell, Emily Fox

Department of Physical Therapy Faculty Papers

Respiratory impairment is a leading cause of morbidity and mortality after spinal cord injury (SCI), highlighting the need for interventions that improve breathing function. In people with SCI, acute intermittent hypoxia (AIH) elicits respiratory motor plasticity and improves inspiratory function. However, in uninjured people facilitation of corticospinal diaphragm motor evoked potential (MEP) amplitude occurs only when AIH is combined with mild hypercapnia (acute intermittent hypercapnic hypoxia; AIHH). It remains unclear whether AIHH similarly enhances diaphragm corticospinal excitability after SCI. We tested the hypothesis that AIHH increases diaphragm MEP amplitude and reduces MEP onset latency in individuals with chronic SCI, whereas …


Cerebrovascular Risk With Calcitonin Gene-Related Peptide Monoclonal Antibodies Versus Onabotulinumtoxina In Patients With Migraine: A Real-World Pharmacoepidemiologic Study In The National Institutes Of Health All Of Us Research Program, Sedat Gül, Bradley Ong, Stephen Trudeau, Nicolas Thompson, Hsiangkuo Yuan Jul 2026

Cerebrovascular Risk With Calcitonin Gene-Related Peptide Monoclonal Antibodies Versus Onabotulinumtoxina In Patients With Migraine: A Real-World Pharmacoepidemiologic Study In The National Institutes Of Health All Of Us Research Program, Sedat Gül, Bradley Ong, Stephen Trudeau, Nicolas Thompson, Hsiangkuo Yuan

Department of Jefferson Headache Center Papers and Presentations

AimTo evaluate whether initiation of calcitonin gene-related peptide (CGRP) monoclonal antibodies (mAbs) was non-inferior to initiation of onabotulinumtoxinA with respect to the hazard of ischemic stroke or transient ischemic attack (IS + TIA) in a real-world cohort of adults with migraine.MethodsWe conducted a retrospective, active-comparator, new-user pharmacoepidemiology study using the NIH All of Us Research Program Registered Tier Dataset (v8). Adults with migraine initiating CGRP mAbs (erenumab, fremanezumab, galcanezumab, eptinezumab) were compared with initiators of onabotulinumtoxinA from January 2018 through September 2023. The primary outcome was IS + TIA occurring more than 90 days after treatment initiation. Inverse probability of …


Long-Term Outcomes And Symptom Response Following Hypofractionated Stereotactic Radiotherapy For Intracranial Meningioma, Ryan Shah, Bs, Nilanjan Haldar, Shray Jain, Lauren Holt, Sophia Shah, Hamail Iqbal, Anthony Chen, Christopher J. Farrell, Debanjan Haldar, James J. Evans, Gregory S. Alexander, Wenyin Shi Jul 2026

Long-Term Outcomes And Symptom Response Following Hypofractionated Stereotactic Radiotherapy For Intracranial Meningioma, Ryan Shah, Bs, Nilanjan Haldar, Shray Jain, Lauren Holt, Sophia Shah, Hamail Iqbal, Anthony Chen, Christopher J. Farrell, Debanjan Haldar, James J. Evans, Gregory S. Alexander, Wenyin Shi

Department of Neurology Faculty Papers

Objective: Various radiation dosing regimens exist due to tumor size, location, and patient preference. This study evaluated the long-term outcomes of patients with benign meningiomas treated with hypofractionated stereotactic radiotherapy (SRT)at our institution.

Methods: This is a retrospective review of all patients diagnosed with meningioma at our institution who received hypofractionated SRT (5 fractions). Clinical data, including tumor location, size, prior treatments, demographics, radiation dosimetric information, tumor response, and survival were collected. Kaplan-Meier curves were used to assess local control (LC). Acute and late toxicities were evaluated. Patients were included for analysis if they had at least one post-treatment magnetic …


Current State And Needs Of Clinical Laboratories In Latin America: A Cross-Country Assessment., Alejandro R. Molinelli, Elizabeth L. Palavecino, José C. Jara-Aguirre, Kerry Cosby, Allison Targowski, Barbara Goldsmith, Rosa Sierra-Amor, Juan D. García, Alicia Algeciras-Schimnich, Eugenio H. Zabaleta, Veronica I. Luzzi, Jessica M. Colón-Franco Jul 2026

Current State And Needs Of Clinical Laboratories In Latin America: A Cross-Country Assessment., Alejandro R. Molinelli, Elizabeth L. Palavecino, José C. Jara-Aguirre, Kerry Cosby, Allison Targowski, Barbara Goldsmith, Rosa Sierra-Amor, Juan D. García, Alicia Algeciras-Schimnich, Eugenio H. Zabaleta, Veronica I. Luzzi, Jessica M. Colón-Franco

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The Association for Diagnostics & Laboratory Medicine (ADLM) aims to improve health by providing education to laboratory scientists worldwide. Different regions of the world face unique challenges shaped by their national and regional contexts. However, the needs of clinical laboratories worldwide remain largely understudied. To address this gap, we conducted a comprehensive needs assessment survey among laboratory professionals in the Latin American region. The survey was distributed to over 2708 individuals across Latin American countries and yielded 148 responses. Most respondents were from urban areas (74%) and worked in private hospital laboratories (45%), with microbiology (25%) and chemistry (23%) identified …


Development And Validation Of The A-Tango Organ Failure Score For Acute-On-Chronic Liver Failure In Global Cohorts, Cornelius Engelmann, Nipun Verma, Tingting Qi, Annarein Johanna Catharina Kerbert, Julian Pohl, Carrie Morgan, Michal Kowalski, Fausto Andreola, Marcelo Oscar Silva, Jose Luis Perez Hernandez, Renato Palma-Fernandez, Manuel Mendizabal, Osvely Mendez-Guerrero, Jose Luis Marin, Sebastián Marciano, René Male-Velazquez, Maria Sarai González-Huezo, Adrian Gadano, Fernando Bessone, Carlos Benitez, Oscar Alfredo Beltran Galvis, Mauricio Castillo Barradas, Marco Arrese, Karen Vagner-Danielsen, Peter Jarcuska, Boglarka Balogh, Zsuzsanna Vitalis, Antonella Putignano, Manuel Tufoni, Michael Manns, Claire Francoz, Manuel Romero-Gomez, Stephen Ryder, Pierre Nahon, Sven Francque, Osman Özdogan, Cristina Sole, Jose Presa Ramos, Heinz Zoller, Manuela Merli, Flemming Bendtsen, Thomas Berg, Alexander Zipprich, Pietro Gatti, Juan Acevedo, Martin Janicko, Frank Erhard Uschner, Carmine Gabriele Gambino, Giacomo Zaccherini, Xianbo Wang, Xin Zheng, Guohong Deng, Yan Huang, Zhongji Meng, Yanghang Gao, Zhiping Qian, Xiaobo Lu, Feng Lui, Yu Shi, Jia Shang, Yubao Zheng, Yingli He, Sunil Taneja, Pratibha Garg, Hans Van Vlierberghe, Christian Steib, Rudolf Stauber, German Soriano, Raj Mookerjee, Henning Gronbaek, Andrea De Gottardi, Minneke Coenraad, Rafael Banares, Stefan Zeuzem, Alexander Gerbes, Marco Domenicali, Faouzi Saliba, Francois Durand, Hai Li, Ajay Duseja, Jinjun Chen, Rajiv Jalan Jul 2026

Development And Validation Of The A-Tango Organ Failure Score For Acute-On-Chronic Liver Failure In Global Cohorts, Cornelius Engelmann, Nipun Verma, Tingting Qi, Annarein Johanna Catharina Kerbert, Julian Pohl, Carrie Morgan, Michal Kowalski, Fausto Andreola, Marcelo Oscar Silva, Jose Luis Perez Hernandez, Renato Palma-Fernandez, Manuel Mendizabal, Osvely Mendez-Guerrero, Jose Luis Marin, Sebastián Marciano, René Male-Velazquez, Maria Sarai González-Huezo, Adrian Gadano, Fernando Bessone, Carlos Benitez, Oscar Alfredo Beltran Galvis, Mauricio Castillo Barradas, Marco Arrese, Karen Vagner-Danielsen, Peter Jarcuska, Boglarka Balogh, Zsuzsanna Vitalis, Antonella Putignano, Manuel Tufoni, Michael Manns, Claire Francoz, Manuel Romero-Gomez, Stephen Ryder, Pierre Nahon, Sven Francque, Osman Özdogan, Cristina Sole, Jose Presa Ramos, Heinz Zoller, Manuela Merli, Flemming Bendtsen, Thomas Berg, Alexander Zipprich, Pietro Gatti, Juan Acevedo, Martin Janicko, Frank Erhard Uschner, Carmine Gabriele Gambino, Giacomo Zaccherini, Xianbo Wang, Xin Zheng, Guohong Deng, Yan Huang, Zhongji Meng, Yanghang Gao, Zhiping Qian, Xiaobo Lu, Feng Lui, Yu Shi, Jia Shang, Yubao Zheng, Yingli He, Sunil Taneja, Pratibha Garg, Hans Van Vlierberghe, Christian Steib, Rudolf Stauber, German Soriano, Raj Mookerjee, Henning Gronbaek, Andrea De Gottardi, Minneke Coenraad, Rafael Banares, Stefan Zeuzem, Alexander Gerbes, Marco Domenicali, Faouzi Saliba, Francois Durand, Hai Li, Ajay Duseja, Jinjun Chen, Rajiv Jalan

Faculty, Staff and Students Publications

Background & aims: Acute-on-chronic liver failure (ACLF) is characterised by multiorgan failure and high short-term mortality in hospitalised patients with acute decompensation of cirrhosis. Although the EASL-CLIF criteria are widely used for diagnosis and prognostication, evolving definitions of organ dysfunction and emerging therapies require updated, tailored criteria to improve diagnostic accuracy, treatment assessment, and applicability in clinical trials. We aimed to develop and validate the A-TANGO organ failure (OF) score to refine ACLF diagnosis and enhance its utility for treatment response evaluation and risk stratification.

Methods: We performed a retrospective analysis of prospective observational cohorts. The derivation cohort comprised three …


Reclassifying Pediatric Nafld Using The Steatotic Liver Disease Framework: A Multicenter Retrospective Study From The Nash Crn, Tin Bo Nicholas Lam, Katherine P Yates, Sheila L Noon, Kimberly P Newton, Mark H Fishbein, Jean P Molleston, Stavra A Xanthakos, Ajay K Jain, Miriam B Vos, Niviann M Blondet, Krupa R Mysore, Cynthia A Behling, Laura A Wilson, Jeffrey B Schwimmer Jul 2026

Reclassifying Pediatric Nafld Using The Steatotic Liver Disease Framework: A Multicenter Retrospective Study From The Nash Crn, Tin Bo Nicholas Lam, Katherine P Yates, Sheila L Noon, Kimberly P Newton, Mark H Fishbein, Jean P Molleston, Stavra A Xanthakos, Ajay K Jain, Miriam B Vos, Niviann M Blondet, Krupa R Mysore, Cynthia A Behling, Laura A Wilson, Jeffrey B Schwimmer

Faculty, Staff and Students Publications

Background and aims: The terminology for hepatic steatosis and NAFLD was revised under the umbrella of steatotic liver disease, with metabolic dysfunction-associated steatotic liver disease (MASLD) as the primary subtype. MASLD is defined by hepatic steatosis plus at least 1 cardiometabolic risk factor. A new category, Met-ALD, describes MASLD with alcohol consumption below the defined thresholds for alcohol-associated liver disease (ALD). While adult studies have demonstrated strong concordance between NAFLD and MASLD, the applicability of this framework in children remains unclear.

Approach and results: We assessed children clinically diagnosed with NAFLD and enrolled in the NASH CRN who had available …