Digital Commons Network^™

Hes V2.0 Validation And Performance Compared To Galad And Asap In The Heds Cohort, Hashem B El-Serag, Camden Lopez, Michelle Luster, K Rajender Reddy, Neehar Parikh, Amit G Singal, Jorge A Marrero, Aaron P Thrift, Jagpreet Chhatwal, Ziding Feng, Stephanie Page-Lester, Qingchun Jin, Nabihah Tayob, Fasiha Kanwal

Faculty, Staff and Students Publications

Background & aims: We previously developed HES V2.0, a biomarker panel (age, ALT, platelets, etiology, AFP, AFP-L3, DCP, and their 1-year gradients) for early detection of hepatocellular carcinoma (HCC) among patients with cirrhosis. We externally validated HES V2.0 and compared its performance with HES V1.0, GALAD, and ASAP.

Methods: We conducted a PRoBE (prospective specimen-collection, retrospective blinded-evaluation) cohort study in the HEDS (Hepatocellular Carcinoma Early Detection Strategy) cohort of 1,485 patients with cirrhosis, of whom 119 developed HCC. Patient- and test-level true positive rates (TPR) for HCC were calculated at 6, 12, and 24 months before diagnosis, using thresholds at …

Relationship Between Heart Rate Variability And Sleep Among Girls And Boys With Abdominal Pain-Related Disorders Of Gut-Brain Interaction, Kendra J Kamp, Robert L Burr, Camden E Matherne, Emily Simonds, Tasha Murphy, Margaret M Heitkemper, Rona L Levy, Robert J Shulman, Miranda A L Van Tilburg

Faculty, Staff and Students Publications

Background: Children with abdominal pain-related disorders of gut-brain interaction (AP-DGBI) often experience sleep disturbances which may be linked to the autonomic nervous system. Heart rate variability (HRV) is a non-invasive measure of autonomic nervous system activity. Our aim was to examine if HRV was associated with characteristics of disturbed sleep in children with AP-DGBI in order to elucidate the underlying physiological mechanisms of disturbed sleep.

Methods: This analysis used baseline data from a randomized control trial of 156 children ages 7-12 years with AP-DGBI. HRV was measured after dinner using a Polar monitor. Sleep disturbances were evaluated using the Children's …

Examining Sleep-Related Problems In Youth With Misophonia, Kevin M Wagner, Matti Cervin, Catherine E Rast, Mered Parnes, Nicholas Murphy, Samuel Spencer, Eric A Storch, Andrew G Guzick

Faculty, Staff and Students Publications

The relationship between misophonia and sleep-related problems (SRPs) in youth is underexplored. This paucity of research is concerning because SRPs might be elevated among youth with misophonia. If left untreated, SRPs can contribute to long-term health consequences. Thus, in this study we examined the link between misophonia and SRPs in youth aged 8 to 17. In this study, we compared SRPs in 102 children and adolescents with clinically significant misophonia to SRPs in a normative youth sample and a sample of 94 youth with anxiety disorders. We also examined the extent to which SRPs were associated with misophonia severity. Approximately …

Bortezomib And Vorinostat In Combination With Mitoxantrone, Dexamethasone, And Pegasparaginase During Induction And Reinduction For Infants With Acute Lymphoblastic Leukaemia: A Multicentre Single-Arm Phase 1/2 Study, Tanja A Gruber, Sima Jeha, Rebecca J Deyell, Victor Lewis, Bill H Chang, Eric J Lowe, Jamie Frediani, Catherine Vezina, Bruno Michon, Michael Richards, Erin H Breese, Thai-Hoa Tran, Norman Lacayo, Christine Bolen, Sunil Desai, Jennifer L Pauley, Minxuan Huang, Emily Ashcraft, Cheng Cheng, Kirk R Schultz, Linda Stork, Krysta Schlis, Van T Huynh, Nathan Gossai, Yoav H Messinger, Henrique Bittencourt, Terzah M Horton, Uma Athale, Duncan Stearns, Deborah Schiff, Paul S Gaynon

Faculty, Staff and Students Publications

Background: Acute lymphoblastic leukaemia in infants remains a therapeutic challenge. In preclinical studies we previously identified bortezomib and vorinostat as active agents against KMT2A rearranged (KMT2Ar) leukaemia. The aim of this study was to determine the tolerability of incorporating bortezomib and vorinostat into an acute lymphoblastic leukaemia-chemotherapy backbone for newly diagnosed infants with acute lymphoblastic leukaemia both with and without KMT2Ar.

Methods: In this single-arm phase 1/2 study conducted at 18 hospitals in the USA and Canada, we enrolled patients aged 1 year or younger at the time of diagnosis with newly diagnosed acute lymphoblastic leukaemia or undifferentiated leukaemia (with …

Aggregation Of Gene Regulatory Information And Knowledge On Fair Principles Enables Discovery Of Pathogenic Gene Regulatory Variants, Keyang Yu, Haoquan Zhao, Andrea S Wilderman, Tierra R Farris, Jessie E Arce, David Chen, Andrew R Jackson, Yiran Guo, Qi Li, Bosko Jevtic, Dubravka Jevtic, Vuk Milinovic, Yuankun Zhu, Jeremy Costanza, Eric D Wenger, Christopher Nemarich, Lisa Anderson, Aleksandar Mihajlović, Kristin Ardlie, Shaine A Morris, Matthew E Roth, Deanne M Taylor, Adam C Resnick, Lilei Zhang, Aleksandar Milosavljevic

Faculty, Staff and Students Publications

Motivation: Methods for sharing gene regulatory information and knowledge on FAIR principles, particularly in the context of tissue-specific gene regulation, remain poorly defined and implemented, hampering discovery and clinical genetic diagnosis.

Results: We specified FAIR principles for tissue-specific gene regulatory information and knowledge; implemented them by developing a registry of regulatory elements and aggregating FAIR gene regulatory information from several major sources; developed computational tools that utilize these FAIR resources; and demonstrated their utility by associating gene regulatory variants with major subtypes of congenital heart disease.

Bone Marrow Endosteum Houses Hedgehog-Susceptible Dlx5-Expressing Osteoblast Precursor Cells, Keita Kondo, Yuki Matsushita, Shion Orikasa, Yuta Nakai, Aiko Kuroda, Shinsuke Ohba, Wanida Ono, Noriaki Ono

Faculty, Staff and Student Publications

The bone marrow endosteum provides a robust source of bone-making osteoblasts by housing various types of osteoblast precursor cells, including endosteal stem cells expressing fibroblast growth factor receptor 3 (Fgfr3) and their downstream progenitor cell populations. In fetal bone development, Dlx5 marks early perichondrial cells that populate the diaphyseal bone and marrow stroma in the postnatal stages. However, the location of Dlx5-expressing cells in the postnatal bone marrow and how they contribute to osteogenesis remain undefined. Here, we show that Dlx5

Prescription Monitoring Program Review Among Patients With Cancer Receiving Opioids At A Safety-Net Palliative Medicine Clinic, Soraira Pacheco, Linh M T Nguyen, Joseph A Arthur, Christopher M Manuel, Wei Qiao, David Hui

Faculty, Staff and Student Publications

Introduction: Prescription monitoring programs (PMPs) are commonly used to monitor non-medical opioid use (NMOU); however, the effectiveness of PMPs for identifying cancer patients with risk factors is not well known.

Methods: This study assessed the frequency and predictors of concerning PMP findings among cancer patients in a palliative care clinic and examined the ability of PMPs, clinical review, and urine drug testing to identify NMOU behaviors. This was a retrospective analysis of consecutive cancer patients seen by palliative care at a safety-net hospital over four years. Demographic, clinical, and psychosocial risk factors for NMOU were extracted from the medical record. …

Endosteal Stem Cells At The Bone-Blood Interface: A Double-Edged Sword For Rapid Bone Formation: Bone Marrow Endosteal Stem Cells Provide A Robust Source Of Bone-Making Osteoblasts Both In Normal And Abnormal Bone Formation, Keita Kondo, Yuki Matsushita, Shion Orikasa, Yuta Nakai, Aiko Kuroda, Shinsuke Ohba, Wanida Ono, Noriaki Ono

Faculty, Staff and Student Publications

Endosteal stem cells are a subclass of bone marrow skeletal stem cell populations that are particularly important for rapid bone formation occurring in growth and regeneration. These stem cells are strategically located near the bone surface in a specialized microenvironment of the endosteal niche. These stem cells are abundant in young stages but eventually depleted and replaced by other stem cell types residing in a non-endosteal perisinusoidal niche. Single-cell molecular profiling and in vivo cell lineage analyses play key roles in discovering endosteal stem cells. Importantly, endosteal stem cells can transform into bone tumor-making cells when deleterious mutations occur in …

Impella 5.5 Versus Heartmate 3 In Left Ventricular Unloading, Hannah Frederick, Douglas Tran, Erik Sorenson, H. Todd Massey, Albert Hicks, Manjula Ananthram, Bartley P. Griffith, Aakash Shah

The VAD Journal

The Impella 5.5 (Abiomed) is increasingly used as a bridge to durable left ventricular assist device (LVAD) implantation in advanced heart failure, yet most studies focus on survival and transition success rather than left ventricular (LV) unloading or valvular effects. This study addresses this gap by comparing Impella 5.5 and HeartMate 3 (HM3, Abbott) in terms of unloading and cardiac support at similar flow rates. We conducted a retrospective study of nine patients who received Impella 5.5 before HM3 implantation. The primary outcome was the degree of LV unloading, as assessed by changes in left ventricular end-diastolic diameter (LVEDD). There …

Merritt-Putnam Symposium | Tumor-Associated Epilepsy And Epilepsy-Associated Tumors: Exploring The Bidirectional Crosstalk Between Tumors And Seizures, Tracy A Bedrosian, Michael Wong, Erin L Heinzen, Benjamin Deneen, Catherine A Christian-Hinman

Faculty, Staff and Students Publications

Links between cancerous and noncancerous brain tumors and epilepsy have long been recognized. However, recent clinical and preclinical studies emphasize that not only do tumors impinge on surrounding brain tissue in ways that promote hyperexcitability and epileptogenesis, but that neural activity also influences tumor progression. In this review, inspired by the Merritt-Putnam Symposium of the 2025 meeting of the American Epilepsy Society, we present a cross-disciplinary dialog between cancer and epilepsy research, including discussion of tumors and epilepsies that are more prominent in pediatric versus adult populations. First, we discuss the neuropathology, genetics, and surgical outcomes of epileptogenic brain tumors, …

An Interoperable Vaccine Record: A Roadmap To Realization, Xia Jing, Arild Faxvaag, Christian G Nøhr, David Robinson, Paul G Biondich, Timothy D Law, Hua Min, Adam Wright, Yang Gong, Dean F Sittig

Faculty, Staff and Student Publications

Objectives: The objectives of this study were to educate the healthcare professional and the general public about interoperable vaccine records by elaborating on its definition, why we need one, what the challenges are, and what progress has been made in this direction.

Methods: The vaccination practices and vaccine record-keeping in the Nordic countries, the UK, and the USA are used as examples to demonstrate the necessity of interoperable vaccine records. The authors' expertise and experience in interoperability, medicine, and HealthIT, along with the literature, informed this paper's content, structure, and organization. Real-world examples and scenarios illustrate the reality …

Coordinated Stimulation Of Axon Regenerative And Neurodegenerative Transcriptional Programs By Atf4 Following Optic Nerve Injury, Preethi Somasundaram, Madeline M Farley, Melissa A Rudy, Katya Sigal, Andoni I Asencor, David G Stefanoff, Malay Shah, Puneetha Goli, Jenny Heo, Shufang Wang, Nicholas M Tran, Trent A Watkins

Faculty, Staff and Students Publications

Stress signaling is important for determining the fates of neurons following axonal insults. Previously, we showed that the stress-responsive kinase PERK contributes to injury-induced neurodegeneration (Larhammar et al., 2017). Here, we show that PERK acts primarily through activating transcription factor-4 (ATF4) to stimulate not only pro-apoptotic but also pro-regenerative responses following optic nerve damage. Using conditional knockout mice, we find an extensive PERK/ATF4-dependent transcriptional response that includes canonical ATF4 target genes and modest contributions by C/EBP Homologous Protein (CHOP). Overlap with c-Jun-dependent transcription suggests interplay with a parallel stress pathway that orchestrates regenerative and apoptotic responses. Accordingly, neuronal knockout of …

Frequency And Self-Reported Outcomes Of Transcranial Magnetic Stimulation For Obsessive Compulsive Disorder In The U.S. And Latin America, Hala Aziz, Guadalupe Vidal-Martinez, Ogechi C Onyeka, Jacey L Anderberg, Javier Vargas-Medrano, Diana Sotelo, Demi Kourtesi, Renee M Frederick, Josselyn S Muñoz, Dayan Berrones, Vanessa Zavala Cruz, Peter Thompson, Silvina Tonarelli, Andrew D Wiese, James J Crowley, Eric A Storch

Faculty, Staff and Students Publications

Introduction: Obsessive compulsive disorder (OCD) affects about 1-2% of the global population, with roughly 30% of patients not responding to first-line treatments. Transcranial Magnetic Stimulation (TMS) has some support for treatment-resistant OCD but global use is unclear.

Methods: This study describes the frequency with which TMS was reported to be received among a large cohort of individuals who self-identified as Latino-Hispanic in Latin America and the United States. Among 3,391 participants, 76 (2.2%) had completed TMS for OCD.

Results: Recipients who received TMS exhibited more severe current and lifetime OCD symptoms compared to non-recipients. On average, participants underwent 22.61 TMS …

Somatic Genetic Rescue In Zcchc8-Associated Telomere Biology Disorders, Sophie De Tocqueville, Flavia Donaires, Nicholas Decleene, Ibrahima Ba, Mina Nouri, Laëtitia Kermasson, Malika Chelbi, Emmanuel Bergot, Thierry Leblanc, Raphael Borie, Quentin Philippot, Elise Antone, Grégoire Prévot, Elodie Blanchard, Boris Keren, Elodie Lainey, Marilia Catto, Barbara Santana, Settara C Chandrasekharappa, Frank X Donovan, Luiz Fernando Bazzo Catto, Isabelle Callebaut, Neal S Young, Carine Halfon-Domenech, Rodrigo T Calado, Alison A Bertuch, Fernanda Gutierrez-Rodrigues, Caroline Kannengiesser, Patrick Revy

Faculty, Staff and Students Publications

We show that somatic genetic rescue is frequent in telomere biology disorders (TBDs) caused by germ line ZCCHC8 variants. Our results highlight the critical intrinsic role of ZCCHC8 in human hematopoiesis and a potential mechanism for disease modification in TBDs.

Winner's Curse Free Robust Mendelian Randomization With Summary Data, Zhongming Xie, Wanheng Zhang, Jingshen Wang, Chong Wu

Faculty, Staff and Student Publications

In the past decade, the increased availability of genome-wide association studies summary data has popularized Mendelian Randomization (MR) for conducting causal inference. MR analyses, incorporating genetic variants as instrumental variables, are known for their robustness against reverse causation bias and unmeasured confounders. Nevertheless, classical MR analyses using summary data may still produce biased causal effect estimates due to the winner’s curse and pleiotropy issues. To address these two issues and establish valid causal conclusions, we propose a unified robust Mendelian Randomization framework with summary data, which systematically removes the winner’s curse and screens out invalid genetic instruments with pleiotropic effects. …

"The Only Place I Feel Understood": A Mixed Methods Survey Of Adolescent And Caregiver Perspectives On Social Media And Parental Controls, Melanie Watt Ramos, Constance M Wiemann, Lauren A Bretz

Faculty, Staff and Students Publications

Purpose

Methods

Results

Removing Race From Clinical Algorithms: History, Politics, And Medicine, David S. Jones Md, Ph.D.

History of Medicine Seminar

No abstract provided.

Innovative Approaches For Lung Cancer Screening And Interception, Jianjun Zhang, Matthew D Park, Tej Pandya, Elaine Shum, Jia Wu, Simon Heeke, Ramin Salehi-Rad, Thomas U Marron, Zhubo Wei, Hui Li, Torsten G Blum, John V Heymach, Steven M Dubinett, Pan-Chyr Yang, Charles Swanton, Miriam Merad

Faculty, Staff and Student Publications

Lung cancer remains the leading cause of cancer-related deaths worldwide, partly because many patients are diagnosed at late stages, highlighting the urgent need for effective early detection and intervention strategies. Low-dose computed tomography (LDCT)-based screening reduces lung cancer mortality in high-risk populations defined by age and smoking history; however, the uptake of LDCT remains low among eligible individuals. Compounding this issue, modelling studies estimate that nearly half of lung cancers occur in individuals who do not meet eligibility criteria for LDCT-based lung cancer screening under current guidelines. Moreover, LDCT-based screening has inherent limitations, including a high rate of false-positive results …

Supt16h-Associated Neurodevelopmental Disorder And Neurocristopathy: Genetic And Phenotypic Spectrum, Eunhye Lee, Seungmin Sim, Hee-Jung Choi, Eugene Y Liang, Carolyn Le, Roya Bina, Ryan Cohen, Elizabeth George, Soo Yeon Kim, Gifty Bhat, Erin Falsey, Richard Sidlow, Kristin Clinard, Shay Ben-Shachar, Eleina England, Beatriz Menendez, Isabella Herman, Shelly Nielsen, Jaya Punetha, Priya Bhola, J Austin Hamm, Megan A Keeney, Nike Sitzman, Sara Berger, Lakshmi Mehta, Alison J Conn, Lilian Downie, Myla Ashfaq, Hope Northrup, Ange-Line Bruel, Sylvie Odent, Justin O Szot, Noelia Nunez Martinez, Sunju Park, Julie Refkin, Jean-Marc Good, Fabienne Maurer, Cédric Le Caignec, David J Coman, Erin Anderson, Linda J Richards, Ryan J Dean, Caleb Yang, Chulwon Choi, Byung Joon Hwang, Jin Sook Lee, William B Dobyns, Murim Choi, Elliott H Sherr, Jong-Hee Chae, Yun Kee, Emanuela Argilli

Faculty, Staff and Student Publications

SUPT16H encodes a subunit of the FACT (FAcilitates Chromatin Transcription) complex, a histone chaperone essential for maintaining chromatin integrity during transcription, replication, and DNA repair. Pathogenic de novo SUPT16H missense variants have previously been linked to neurodevelopmental disorders in eight individuals. Here, we expand the genotypic and phenotypic spectrum by identifying 24 additional individuals harboring ultrarare heterozygous missense or truncating variants, who share overlapping clinical features including intellectual disability, autism spectrum disorder, hypotonia, and characteristic craniofacial dysmorphism. To elucidate the underlying mechanisms, we generated a supt16h knockout zebrafish model using CRISPR/Cas9. The supt16h loss-of-function (LOF) model recapitulated key patient phenotypes …

Advances In Hpv Vaccination In People Living With Hiv: A Review, Megan Mooberry, J Brooks Jackson, Mary B Rysavy

Faculty, Staff and Student Publications

Human papillomavirus (HPV) is the most common sexually transmitted infection worldwide and is a leading cause of cervical, anal, penile, and oropharyngeal cancers. This review summarizes the epidemiology of HPV and the immunogenicity, clinical efficacy, and current HPV vaccination recommendations among people living with HIV (PLWH). PLWH experience a disproportionate burden of HPV-related infection and HPV-related malignancies. Although HPV vaccines have been shown to be highly effective, vaccination coverage among PLWH remains suboptimal, particularly in low- and middle-income countries. Barriers to vaccination include extended dosing schedules, limited awareness of the vaccine, and misinformation. Evidence indicates HPV vaccines are safe and …

Nci9673 (Part B): Etctn Randomized Phase Ii Study Of Nivolumab With Or Without Ipilimumab In Refractory, Metastatic Squamous Cell Carcinoma Of The Anal Canal, Van K Morris, Kristen K Ciombor, Lianchun Xiao, Joshua K Ochieng, Enrica Marmonti, Blase Polite, Benjamin A Weinberg, John C Krauss, John Hays, Sarbajit Mukherjee, Olivia Aranha, Syma Iqbal, Tony Shields, Al B Benson, Syed Kazmi, Christopher Lieu, Howard Hochster, Jennifer Whisenant, Cara Haymaker, Cathy Eng

Faculty, Staff and Student Publications

Purpose: In the previously completed NCI9673 (part A) single-arm study, the antiprogrammed death (PD)-ligand-1 antibody nivolumab demonstrated efficacy for patients with metastatic anal cancer. In NCI9673 (Part B), we evaluated the anticytotoxic T-cell lymphocyte antigen-4 (CTLA-4) antibody ipilimumab in combination with nivolumab for patients with incurable anal cancer.

Methods: In this phase II NCI ETCTN trial, 100 patients with refractory, incurable anal cancer were randomly assigned to receive nivolumab (480 mg IV once every 4 weeks) alone or with ipilimumab (1 mg/kg IV once every 8 weeks). The primary end point was progression-free survival (PFS). Secondary endpoints included radiographic response, …

Perinatal And Maternal Outcomes By Indication For Delivery In The Second Trimester, Kristen A Cagino, Paula L Mcgee, Maged M Costantine, Michael W Varner, Alan T N Tita, Monica Longo, Barbara J Stoll, John M Thorp, Uma M Reddy, William A Grobman, Dwight J Rouse, Hyagriv N Simhan, Jennifer L Bailit, Lorraine Dugoff, George R Saade, Baha M Sibai

Faculty, Staff and Student Publications

Perinatal and maternal morbidity in the setting of preterm birth may differ by delivery indication. We compared perinatal and maternal outcomes of second-trimester (240/7-276/7 weeks of gestation) deliveries indicated for preeclampsia with severe features (PE-SF), with those following preterm premature rupture of membranes (PPROM).Secondary analysis of an observational cohort study of singleton and twin preterm deliveries before 35 weeks' gestation at 33 hospitals across the United States. Singletons without congenital anomalies who were delivered due to PE-SF or PPROM from 240/7 to 276/7 weeks of gestation were included. The primary outcome was a composite of perinatal morbidity or death, defined …

Steroid Receptor Coactivators - From Basic Research To Translational Opportunities, Yosef Gilad, Sang Jun Han, David M Lonard

Faculty, Staff and Students Publications

The concept of nuclear receptor (NR) coregulation was proposed nearly two decades before it was experimentally validated. According to this model, NRs - executors of a vast array of transcriptional programs - do not act independently but are governed by a network of regulatory proteins that either activate or repress their biological function. NRs identify the genes to be regulated. However, coregulators ultimately serve as the true controllers of transcriptional outcomes. They recruit cofactors and coordinate the activity of transcriptional complexes, thereby shaping NR-mediated gene expression beyond NRs' intrinsic functionality. The Steroid Receptor Coactivator (SRC) family is the most extensively …

The Neuroprotective Effects Of Alpha-Tocopherol As An Anti-Inflammatory Agent: Mechanistic Insights And Therapeutic Challenges, Megumi H Seese, Yuanzhong Xu

The Brown Foundation: Institute of Molecular Medicine

Vitamin E (alpha-tocopherol, αToc), an antioxidant fat-soluble vitamin that prevents lipid peroxidation and modulates pro-inflammatory cytokine production, is well-known to be critical for neuroprotection. However, the underlying mechanism remains poorly understood. Accumulating evidence demonstrates that αToc influences neuroinflammatory processes. Here, we review recent research progress on the effects of αToc on neuroinflammation. Preclinical studies included in this narrative review were identified through PubMed searches using the keywords "alpha-tocopherol AND neuroinflammation or alpha-tocopherol AND brain AND inflammation". While many studies support a neuroprotective role of αToc, the magnitude and direction of its effects vary substantially depending on dosage, route of administration, …

Cardiac Output-Guided Vs. Mean Arterial Pressure-Guided Hemodynamic Management In Craniotomy Patients With Cardiovascular Disease: A Randomized Trial, Na Chen, Minjing Yang, Renhua Li, Chunyan Ye, Lu Wang, Xingyang Liu, Jinghan Wu, Daniel I Sessler, E Wang

Faculty, Staff and Student Publications

We tested the primary hypothesis that cardiac output (CO)-guided versus mean arterial pressure (MAP)-guided hemodynamic management reduces the fraction of patients with 90-day Glasgow Outcome scores ≤ 4 (on a 1–5 scale, 5 better) after supratentorial brain tumor resections in adults with cardiovascular disease. 202 adults were randomized to intraoperative hemodynamic management guided by either CO or MAP. In patients assigned to CO guidance, clinicians targeted CO > 4 L/min and > 90% of baseline values using a combination of fluids and vasoactive agents. In patients assigned to MAP guidance, clinicians targeted MAP within ± 20% of baseline and ≥ 65 mmHg. …

Cml-Like Biology Is A Unifying Feature Of Myeloid/Lymphoid Neoplasms With Tyrosine Kinase Fusions In Lymphoid Blast Phase Comment On: Multilineage Involvement In Abl-Class Fusion-Positive Pediatric B-Cell Acute Lymphoblastic Leukemia: Cml-Like Biology, Wei J Wang, Shimin Hu

Faculty, Staff and Student Publications

No abstract provided.

Unbalanced Chromatin Binding Of Polycomb Complexes Drives Neurodevelopmental Disorders, Rodrigo L Borges, Gretter González-Blanco, Harikumar Arigela, Yingyu Huang, Lucas D Caeiro, Nikolai Fattakhov, Stefano Lepore, Liliana Garcia-Martinez, Matea Maurice, Pushti D Mehta, Emily J Park, Kailynn Macgillivray, Jevithen Nehru, Matthew Chau, Maria C Robayo, Clemer Abad, Alicia Bilbao-Martinez, Fabiola Monteiro, Xi Luo, Song Tan, Daniel Bilbao, Simone Sidoli, Bruno Di Stefano, Katherina Walz, Arneet L Saltzman, Ramiro E Verdun, Ramin Shiekhattar, Lluis Morey

Faculty, Staff and Students Publications

The prevalence of neurodevelopmental disorders (NDDs) in children is increasing, yet their underlying causes remain largely unknown. We identified heterozygous mutations in the Polycomb repressive complex 1 (PRC1) E3 ligases RING1 and RNF2 in individuals with NDDs and revealed distinct mechanisms by which they compromise PRC1 activity. We developed cellular and mouse models carrying the Ring1b

Online Decision Support For Implementing Evidence-Based Hpv Vaccination Strategies In Texas Safety-Net Pediatric Clinics: Impact On Hpv, Mcv, And Tdap Initiation, Ross Shegog, Hanxiao Sun, Erica L Frost, Laura C Thormaehlen, Travis A Teague, Catherine Mary Healy, Hina Azam, Aadeel Khawaja, Laura Aubree Shay, Dale S Mantey, Sally W Vernon, Lara S Savas

Faculty, Staff and Students Publications

Introduction: HPV vaccination rates for adolescents in the United States are below recommended levels. The Adolescent Vaccination Program (AVP) guides pediatric clinics on how to implement evidence-based strategies to increase HPV vaccination rates. These strategies comprise the adoption of (1) immunization champions, (2) provider assessment and feedback, (3) continuing education, and (4) prompts, (5) parent reminders, and (6) parent education. The AVP systems-based intervention has demonstrated increased HPV vaccination rates in large urban pediatric clinic networks. The purpose of this study was to assess the feasibility of using an online decision support tool, the AVP Implementation Tool (AVP-IT), to …

Neurophysiological Connectomic Signatures Of Consciousness During Propofol-Induced General Anesthesia, Yuqin Li, Xiaoxiao Chen, Hui Zheng, Senqi Li, Qingyu Teng, Chengyu Wang, Fali Li, Zhongcong Xie, Daniel Sessler, Zhe Zhang, Peng Xu, Ti-Fei Yuan, Tao Xu

Faculty, Staff and Student Publications

General anesthesia induces reversible changes in consciousness through cortical activity and connectivity alterations, yet the functional connectome dynamics underlying propofol-induced unconsciousness remains unclear. We analyze high-density 128-channel electroencephalogram (EEG) from 31 surgical patients using source localization to identify neurobiological connectome signatures of propofol anesthesia. Propofol anesthesia increases delta and theta functional connectivity and decreases alpha, beta, and gamma connectivity. A classification model and dynamic analysis of consciousness loss reveals that alpha-band connectivity between parietal, occipital, and subcortical regions is critical for sustaining consciousness, with its disruption marking a key transition to unconsciousness. EEG from 46 additional patients under mild sedation …

Expectant Management Vs Medication For Patent Ductus Arteriosus In Preterm Infants: The Pda Randomized Clinical Trial, Matthew M Laughon, Sonia M Thomas, Kristi L Watterberg, Kathleen A Kennedy, Martin Keszler, Namisavayam Ambalavanan, Alexis S Davis, Jonathan L Slaughter, Ronnie Guillet, Tarah T Colaizy, C Michael Cotten, Megan A Dhawan, Carl L Bose, Jennifer Talbert, Sarah Smucny, William E Benitz, Matthew A Rysavy, Robin K Ohls, Mariana C Baserga, Sara B Demauro, Mambarambath Jaleel, Wesley M Jackson, Waldemar A Carlo, Karen M Puopolo, Anna Maria Hibbs, Anup Katheria, Pablo J Sánchez, Carl T D'Angio, Ravi M Patel, Beth Ann Johnson, Valerie Y Chock, Abhay J Bhatt, Stephanie L Merhar, Ryan Moore, Abbot R Laptook, Sarvin Ghavam, Janell Fuller, Shilpa Vyas-Read, Stephen D Kicklighter, Baiba Steinbrekera, Kathryn Anderson, Praveen K Chandrasekharan, Myra H Wyckoff, Cassandra Montoya, Abhik Das, Barbara Do, Samantha Chang, Rosemary D Higgins, Michele C Walsh

Faculty, Staff and Student Publications

Importance: The management of patent ductus arteriosus (PDA) in preterm infants is controversial.

Objective: To determine whether expectant management compared with active treatment of a protocol-defined PDA in preterm infants decreases the incidence of death or bronchopulmonary dysplasia (BPD).

Design, setting, and participants: A randomized clinical trial including infants born at 22 to 28 weeks' gestation and diagnosed with a protocol-defined PDA between the age of 48 hours and 21 days at screening. The trial was conducted from December 2018 to December 2024 at 33 hospitals within the National Institute of Child Health and Human Development Neonatal Research Network. The …