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2026

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Challenge-Based Ex Vivo Immune Profiling Reveals Stimulus-Dependent Peripheral Immune Reprogramming In Alzheimer's Disease, C. A. Naranjo-Galvis, Jovanny Zabaleta, Ney Alliey Rodriguez, Luisa Matilde Salamanca-Duque Jul 2026

Challenge-Based Ex Vivo Immune Profiling Reveals Stimulus-Dependent Peripheral Immune Reprogramming In Alzheimer's Disease, C. A. Naranjo-Galvis, Jovanny Zabaleta, Ney Alliey Rodriguez, Luisa Matilde Salamanca-Duque

School of Medicine Publications

Altered immune function is increasingly recognized as a contributor to Alzheimer's disease (AD); however, it remains unclear whether peripheral immune alterations reflect constitutive inflammation or stimulus-dependent changes in immune responsiveness. Addressing this distinction is critical for understanding immune dysregulation in neurodegenerative diseases. In this study, we applied a challenge-based ex vivo immune profiling approach to characterize functional immune responsiveness in patients with AD and in cognitively healthy older adults. Peripheral blood mononuclear cells were exposed to defined innate, antigenic, and mitogenic stimuli, and cytokine and β-amyloid (Aβ) responses were quantified in culture supernatants. Diagnosis-by-stimulus interaction effects were assessed using generalized …


The Effect Of Cyp1a2 Gene Polymorphisms On Caffeine Pharmacokinetics And Exercise Performance In Male Recreational Athletes, Chloe Masters, Ajmol Ali, Claire Badenhorst, Martin Dickens, Kay Rutherfurd-Markwick Jul 2026

The Effect Of Cyp1a2 Gene Polymorphisms On Caffeine Pharmacokinetics And Exercise Performance In Male Recreational Athletes, Chloe Masters, Ajmol Ali, Claire Badenhorst, Martin Dickens, Kay Rutherfurd-Markwick

Research outputs 2022 to 2026

This study examined the effects of caffeine consumption on endurance exercise performance, and the influence of CYP1A2 gene polymorphisms in caffeine pharmacokinetics and exercise performance. The data sets of two randomised, double blind, placebo-controlled crossover study design experiments have been merged. Thirty-eight recreationally active male participants provided saliva samples for CYP1A2 genotyping (AA homozygotes n = 19; AC heterozygotes n = 19) and completed either a 10-km run or 40-km cycling time trial of 60-min following a single dose of 6 mg·kg−1 caffeine (CAF) or placebo (maltodextrin; PLA) throughout which heart rate (HR) and time to completion (TTC) were …


Nitrogen Use Efficiency Of Rice Expressing Arabidopsis Thaliana Dreb1a Gene, Yanis Anetha Vasquez Valdes Jul 2026

Nitrogen Use Efficiency Of Rice Expressing Arabidopsis Thaliana Dreb1a Gene, Yanis Anetha Vasquez Valdes

Graduate Theses and Dissertations

Rice is a globally consumed crop and feeds more than half of the world’s population. Nitrogen (N) fertilization is required for increasing rice crop production and yield, but producers often overuse N fertilizers, exceeding plant uptake capacity. Around 40% of the applied N is lost through volatilization and denitrification to the environment, causing algal bloom formation, greenhouse gas emissions, and water pollution. Therefore, improving nitrogen use efficiency (NUE) in rice has become a principal objective to achieve sustainable agriculture. NUE is a complex trait in rice that coordinates three processes: nitrogen uptake, transport and assimilation, which together support photosynthesis, biomass …


Evaluation Of Thresholds For Adult Tarnished Plant Bug, Lygus Lineolaris (Beauvois), In Thryvon® Cotton, William Anderson Fletcher Jul 2026

Evaluation Of Thresholds For Adult Tarnished Plant Bug, Lygus Lineolaris (Beauvois), In Thryvon® Cotton, William Anderson Fletcher

Graduate Theses and Dissertations

Tarnished plant bug (TPB) is the most economically damaging insect pest of Mid-South cotton. TPB reduces yield is reduced by damaging squares, terminal growth, and small bolls, resulting in reduced yield. Currently, cotton grown in the Mid-South averages 1-6 insecticide applications per year for control of TPB. The introduction of ThryvOn® cotton technology provides a new management strategy for TPB control. ThryvOn® technology produces the Bacillus thuringiensis (Bt) protein Mpp51Aa2, which has insecticidal activity on TPB. A field study was conducted at five locations in 2024 and seven locations in 2025 across the Mid-South to evaluate different threshold levels for …


The Role Of The Hs1582 Enhancer In The Regulation Of Spry1 In Human Neural Crest Cells, Maia Williams, Vershanna E Morris Jul 2026

The Role Of The Hs1582 Enhancer In The Regulation Of Spry1 In Human Neural Crest Cells, Maia Williams, Vershanna E Morris

Summer Research Program Abstracts

No abstract provided.


Functional Characterization Of A Hepcidin Knockout Mouse Model For The Study Of Acute Pancreatitis, Andrew Schmidt, Amanda Bean, Jiajing Li, Danqing Ren, Suhair Al Salihi, Yanna Cao, Tien Ko Jul 2026

Functional Characterization Of A Hepcidin Knockout Mouse Model For The Study Of Acute Pancreatitis, Andrew Schmidt, Amanda Bean, Jiajing Li, Danqing Ren, Suhair Al Salihi, Yanna Cao, Tien Ko

Summer Research Program Abstracts

No abstract provided.


Microrna Regulation Of Human Trophoblast Stem Cell Proliferation, Eva E. Adams, Madison Vu, Jacqueline G. Parchem Jul 2026

Microrna Regulation Of Human Trophoblast Stem Cell Proliferation, Eva E. Adams, Madison Vu, Jacqueline G. Parchem

Summer Research Program Abstracts

No abstract provided.


Effect Of Pparα Inhibition On Metabolic Maturation In Primary Murine Cardiomyocytes, Aedan Christian S. Villegas, Brenna Servantes, Ximena Medina Romero, Jacqueline Parchem, Tina Oak Findley Jul 2026

Effect Of Pparα Inhibition On Metabolic Maturation In Primary Murine Cardiomyocytes, Aedan Christian S. Villegas, Brenna Servantes, Ximena Medina Romero, Jacqueline Parchem, Tina Oak Findley

Summer Research Program Abstracts

No abstract provided.


Cognitive Decline In Dutch-Type Hereditary And Sporadic Cerebral Amyloid Angiopathy: A 5-Year Follow-Up Study, Rosemarie Van Dort, Vera C.J. Van Stek-Smits, Sanne E. Schriemer, Reinier G.J. Van Der Zwet, Manon R. Schipper, Sabine Voigt, Ellen P. Hart, Vandhana Easwaran, Hamid R. Sohrabi, Kevin Taddei, Samantha L. Gardener, Ralph N. Martins, Steven M. Greenberg, Matthias J.P. Van Osch, Marianne A.A. Van Walderveen, Marieke J.H. Wermer, Ellis S. Van Etten Jul 2026

Cognitive Decline In Dutch-Type Hereditary And Sporadic Cerebral Amyloid Angiopathy: A 5-Year Follow-Up Study, Rosemarie Van Dort, Vera C.J. Van Stek-Smits, Sanne E. Schriemer, Reinier G.J. Van Der Zwet, Manon R. Schipper, Sabine Voigt, Ellen P. Hart, Vandhana Easwaran, Hamid R. Sohrabi, Kevin Taddei, Samantha L. Gardener, Ralph N. Martins, Steven M. Greenberg, Matthias J.P. Van Osch, Marianne A.A. Van Walderveen, Marieke J.H. Wermer, Ellis S. Van Etten

Research outputs 2022 to 2026

Introduction: Cerebral amyloid angiopathy (CAA) is associated with cognitive impairment, but its longitudinal course of cognitive decline remains unclear. We investigated domain-specific cognitive trajectories in Dutch-type hereditary (D-CAA) and sporadic CAA (sCAA) to compare patterns and rates of decline. Methods: We included 181 participants – 93 D-CAA mutation carriers (59 without, 34 with prior intracerebral hemorrhage [ICH]) and 88 with sCAA (57 without, 31 with ICH) – who underwent annual neuropsychological assessment. Longitudinal change in global cognition, memory, processing speed, and executive function was analyzed using linear mixed models. Results: Over 5 years, cognitive decline was subtle but measurable. Memory …


Advanced Mathematics In The Elementary School: Supporting Teachers And Students Through A Resource Compilation, Abigail Friedel Jul 2026

Advanced Mathematics In The Elementary School: Supporting Teachers And Students Through A Resource Compilation, Abigail Friedel

School of Education and Leadership Student Capstone Projects

Addressing the needs of every student within an elementary mathematics classroom is a difficult and time-consuming task that educators are charged with. The range of abilities in a general education classroom can span multiple grade levels, especially in upper elementary. Teachers are often encouraged to focus on students that are below grade level, which can lead to higher ability students being bored and disengaged when they are in the classroom (Livers et al., 2018). To address this issue, this capstone project seeks to answer the question of how can elementary classroom teachers best support their advanced learners in math after …


Enhancing Second Language Acquisition Through Hands-On Learning In French Immersion Schools, Vanessa Hendrikson Jul 2026

Enhancing Second Language Acquisition Through Hands-On Learning In French Immersion Schools, Vanessa Hendrikson

School of Education and Leadership Student Capstone Projects

Learning a second language at school is a valuable experience. However, the journey toward fluency can sometimes be long and challenging for both students and educators. This capstone explores how hands-on learning activities can support second language learning by providing students with meaningful and engaging experiences. It is guided by the research question: How can hands-on learning activities support second language acquisition among students in French immersion schools? Grounded in research on second language acquisition and experiential learning, the project examines how games, manipulatives, and other hands-on activities can help students build their language skills while providing opportunities for authentic …


Rooted In Wonder: Cultivating A Connection To The Environment Through Nature-Based Learning In Central Mexico, Mikaela Tennis Jul 2026

Rooted In Wonder: Cultivating A Connection To The Environment Through Nature-Based Learning In Central Mexico, Mikaela Tennis

School of Education and Leadership Student Capstone Projects

Children are spending less time outdoors and feeling increasingly disconnected from the natural world. This reduced exposure and lack of interaction limits opportunities to form early connections with nature, which have lasting benefits into adulthood. Nature-based learning approaches have been proven to increase a sense of nature connectedness, which in turn strengthens one’s environmental attitudes and behaviors while supporting mental health and well-being. To address limited access to nature-based learning experiences in Central Mexico, this capstone draws from research on nature connectedness, nature-based learning, and nature center design to answer the question, How can a nature-based learning center be designed …


Cultivating Excellence: Empowering Student Success And Resilience Through Character Development, Vanessa Fairchild Jul 2026

Cultivating Excellence: Empowering Student Success And Resilience Through Character Development, Vanessa Fairchild

School of Education and Leadership Student Capstone Projects

The research question addressed in this capstone is: How does character development support academic success and student resilience? Literature regarding character development led to the development of this curriculum, aimed at addressing specific skill deficits within a set of character traits with the desired outcome of improving student success and resilience that will support them in high school and in their years to follow. The target audience is secondary students, specifically within special education. The curriculum features a four-unit, year-long set of weekly lessons which incorporate mindfulness meditation, journal prompt, social stories, and discussion prompts, while connecting each skill to …


Skilful Attacking Trades Off With Defensive Ability In Hermit Crabs, Joshua Le Pla, Sarah M. Lane, Mark Briffa Jul 2026

Skilful Attacking Trades Off With Defensive Ability In Hermit Crabs, Joshua Le Pla, Sarah M. Lane, Mark Briffa

School of Biological and Marine Sciences

The ability to win contests is crucial for securing the valuable resources individuals need to survive and reproduce. Fighting ability can thus be a vital determinant of fitness, and much research has been carried out to characterize the traits that influence fighting ability, or resource-holding potential (RHP). RHP is known to be influenced by a wide range of traits including morphology, physiology, vigour and, more recently, skill. These traits are typically analysed in isolation to identify their individual contributions to winning fights. However, relatively little is known about how different RHP traits may interact and potentially trade off against one …


Nuclear Factor Of Activated T Cells As A Driver Of Tumor Progression And A Target For Precision Therapy, Hira Khan, Khushbakhat Alia, Yusra Al Dhaheri, Muhammad Naseem, Rabah Iratni, Edgar Serfling, Khalid Muhammad Jul 2026

Nuclear Factor Of Activated T Cells As A Driver Of Tumor Progression And A Target For Precision Therapy, Hira Khan, Khushbakhat Alia, Yusra Al Dhaheri, Muhammad Naseem, Rabah Iratni, Edgar Serfling, Khalid Muhammad

All Works

The Nuclear Factor of Activated T Cells (NFAT) family comprises closely related transcription factors. Numerous biological processes including angiogenesis, invasion, migration, proliferation, and cell survival are regulated by the NFAT family. NFATs are overexpressed and have increased transcriptional activity in a variety of human solid tumors and hematological cancers. Beyond tumor cell-intrinsic roles, NFAT has also emerged as an important regulator of the tumor microenvironment (TME), where it can influence immune cell behavior and contribute to mechanisms of immune evasion. The discovery of the multifaceted functions of NFATs has driven the need to further unveil their role in cancer and …


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 …


Cefepime Pharmacokinetics In Critically Ill Children With Multiple Organ Dysfunction Syndrome Using Volumetric Absorptive Microsampling, Victor Amajor, Amanda Bwint, Steven Shein, Janet Hume, Courtney Rowan, Leeanne Flygt, Matthew Malone, Erin Stenson, Scott Weiss, Matt Zinter, Sujatha Kannan, Mary Dahmer, Ryan Nofziger, Manjunath Pai, Athena Zuppa, Nathaniel Rhodes, Mark Hall, Marc Scheetz, Kevin Downes Jul 2026

Cefepime Pharmacokinetics In Critically Ill Children With Multiple Organ Dysfunction Syndrome Using Volumetric Absorptive Microsampling, Victor Amajor, Amanda Bwint, Steven Shein, Janet Hume, Courtney Rowan, Leeanne Flygt, Matthew Malone, Erin Stenson, Scott Weiss, Matt Zinter, Sujatha Kannan, Mary Dahmer, Ryan Nofziger, Manjunath Pai, Athena Zuppa, Nathaniel Rhodes, Mark Hall, Marc Scheetz, Kevin Downes

Department of Pediatrics Faculty Papers

Up to half of critically ill children experience multiple organ dysfunction syndrome (MODS), which worsens outcomes and increases mortality risk. Cefepime is a broad-spectrum antibiotic commonly used in pediatric sepsis, but its pharmacokinetics during MODS has not been evaluated. We performed a prospective, observational study of critically ill children with MODS who were administered cefepime and collected up to 15 whole blood samples over 3 days using volumetric absorptive microsampling (VAMS). We performed nonlinear mixed-effects modeling to develop a population PK model for cefepime in children with MODS. We then reran our final population PK model using estimated plasma concentrations …


Implementing The Walking Impairment Questionnaire For Peripheral Artery Disease Screening And Referral, Lisa Doyle Jul 2026

Implementing The Walking Impairment Questionnaire For Peripheral Artery Disease Screening And Referral, Lisa Doyle

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Peripheral artery disease (PAD) is a leading cause of cardiovascular morbidity, mortality, and lower extremity amputation. At a Level 1 veterans medical center, the absence of a standardized screening and referral process contributed to delayed identification of symptomatic PAD and underutilization of supervised exercise therapy (SET). Between August 2024 and July 2025, only four veterans completed SET despite a large high-risk population, demonstrating a significant gap in evidence-based recommendations and clinical practice.

Aim of the Project: The aim of this project was to improve patient outcomes by standardizing screening for symptomatic PAD using the Walking Impairment Questionnaire (WIQ) to …


The Mental Health Of Athletes: Channeling Frustration, Aggression, Internal/External Behaviors In The Real World To Improve Performance, Jabari Johnson Jul 2026

The Mental Health Of Athletes: Channeling Frustration, Aggression, Internal/External Behaviors In The Real World To Improve Performance, Jabari Johnson

Dissertations

This qualitative study examined how college athletes, 18 years and older, experience and interpret internalizing behaviors and externalizing behaviors within contact and non-contact sports, and how those experiences are shaped by gender, racial/ethnic background, and socioeconomic status. The study addressed a gap in the literature by centering athletes’ own perspectives on how emotions, coping, identity, and performance intersect within collegiate sport contexts. A purposive sample of 12 athletes completed a demographic questionnaire and participated in semi-structured interviews conducted in person between December 2025 and February 2026. Interview transcripts were deidentified and analyzed using reflexive thematic analysis following Braun and Clarke’s …


Conflict-Mediated Group Size Regulation: A Theory Of Supraoptimal And Suboptimal Group Size, Eric Schniter Jul 2026

Conflict-Mediated Group Size Regulation: A Theory Of Supraoptimal And Suboptimal Group Size, Eric Schniter

ESI Working Papers

Observed group sizes rarely match the size that would maximize what each member gets from belonging. We propose a two-part theory in which group size is regulated by two related conflicts: insider-outsider conflict over admission, and within-group conflict as crowding, competition, and social tensions intensify with size. Three strategies are available: admission, exclusion, and fission. The first part shows that even when exclusion is unavailable, fission dynamics alone drive group size away from the optimum in both directions, with the pattern set by how prospective joiners encounter groups and by the geometry of fission. When joiners compare groups across a …


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 …


Incidence And Outcomes Of Treatment-Associated Hepatotoxicity During Pediatric Acute Lymphoblastic Leukemia Induction Therapy: A Reducing Ethnic Disparities In Acute Leukemia (Redial) Consortium Report, Ashley N Chavana, Emily J Mason, John P Woodhouse, Olga A Taylor, Monica M Gramatges, Joanna S Yi, Sandi Pruitt, M Brooke Bernhardt, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Marley Roberts, Rodrigo Erana, Juan Carlos Bernini, Hong Zhu, Philip J Lupo, Karen R Rabin, Michael E Scheurer, Steven D Mittelman, Van Huynh, Etan Orgel, Austin L Brown Jul 2026

Incidence And Outcomes Of Treatment-Associated Hepatotoxicity During Pediatric Acute Lymphoblastic Leukemia Induction Therapy: A Reducing Ethnic Disparities In Acute Leukemia (Redial) Consortium Report, Ashley N Chavana, Emily J Mason, John P Woodhouse, Olga A Taylor, Monica M Gramatges, Joanna S Yi, Sandi Pruitt, M Brooke Bernhardt, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Marley Roberts, Rodrigo Erana, Juan Carlos Bernini, Hong Zhu, Philip J Lupo, Karen R Rabin, Michael E Scheurer, Steven D Mittelman, Van Huynh, Etan Orgel, Austin L Brown

Faculty, Staff and Students Publications

No abstract provided.


Mechanisms Coordinating Exit From The Stem Cell State In Mammals, Emily J Park, Florencia Levin-Ferreyra, Bruno Di Stefano Jul 2026

Mechanisms Coordinating Exit From The Stem Cell State In Mammals, Emily J Park, Florencia Levin-Ferreyra, Bruno Di Stefano

Faculty, Staff and Students Publications

Differentiation requires coordinated exit from the stem cell state, during which gene regulatory networks sustaining self-renewal are dismantled, while lineage-specific programs are activated. This transition is governed by chromatin modifications, transcriptional networks, RNA processing, translational control, and metabolic rewiring that must operate with temporal precision. Despite significant progress in identifying individual regulatory components, understanding how these layers integrate to orchestrate irreversible cell fate commitment remains a fundamental challenge. This review examines common and unique regulatory principles governing stem cell exit, from totipotency during early embryogenesis to tissue-specific stem cell differentiation in adults. We synthesize recent findings on regulatory mechanisms across …


Nuclear-Specific Reductive Carboxylation Of Alpha-Ketoglutarate Fuels Histone Acetylation To Induce Chromatin Accessibility And Gene Activation, Abhisha Sawant Dessai, Nadya A Elhalawany, Tao Dai, Justine J Jacobi, Christian Prechtl, Alphonse N Dimeck, Sierra R Morton, Mark D Long, Prashant K Singh, Nagireddy Putluri, Mariana Lopes, Song Liu, Dominic J Smiraglia, Katerina V Gurova, Peder J Lund, Leah A Gates, Sung Yun Jung, Subhamoy Dasgupta Jul 2026

Nuclear-Specific Reductive Carboxylation Of Alpha-Ketoglutarate Fuels Histone Acetylation To Induce Chromatin Accessibility And Gene Activation, Abhisha Sawant Dessai, Nadya A Elhalawany, Tao Dai, Justine J Jacobi, Christian Prechtl, Alphonse N Dimeck, Sierra R Morton, Mark D Long, Prashant K Singh, Nagireddy Putluri, Mariana Lopes, Song Liu, Dominic J Smiraglia, Katerina V Gurova, Peder J Lund, Leah A Gates, Sung Yun Jung, Subhamoy Dasgupta

Faculty, Staff and Students Publications

Mitochondria remain at the core of cell metabolism, whereas the nucleus integrates cellular and environmental signals to activate genes. However, the mechanisms that directly link cellular metabolism to gene regulation are not well understood. Here we show, a metabolic pathway in the nucleus controls acetylation of histones by nuclear localization of mitochondrial enzymes aconitase (ACO2) and isocitrate dehydrogenase (IDH2). Metabolic tracing studies show that IDH2 and ACO2 catalyze reductive carboxylation of α-ketoglutarate to rapidly synthesize citrate to increase nuclear acetyl-CoA pool. Genetic and proteomic analyses reveal nuclear IDH2 and ACO2 form a complex with KAT2A/GCN5 for acetylation of histones to …


Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira Jul 2026

Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira

Faculty, Staff and Students Publications

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework …


Author Correction: Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth Jul 2026

Author Correction: Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth

Faculty, Staff and Students Publications

This corrects the article "Plasticity and language in the anaesthetized human hippocampus" in volume 654 on page 714.


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, …


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 …


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 …


Cytokine-Based Strategies To Improve Prognostic Enrichment Of Pediatric Ards, E Scott Halstead, Todd M Umstead, Zissis C Chroneos, Cainan Riccio-Baum, S Rameeza Allie, Daniel J Mckeone, Debbie Spear, Ryan A Nofziger, Ronald C Sanders, Danielle Ahn, Jasmine C Dowell, Asdis F Wagner, Neal J Thomas, Prithvi Sendi, W Joshua Frazier, Courtney M Rowan, Parag N Jain, Dalia A Bashir, Stuart H Friess, Brian M Varisco, Jocelyn Grunwell, Aline B Maddux, Stephen T Famularo, Nadir Yehya Jul 2026

Cytokine-Based Strategies To Improve Prognostic Enrichment Of Pediatric Ards, E Scott Halstead, Todd M Umstead, Zissis C Chroneos, Cainan Riccio-Baum, S Rameeza Allie, Daniel J Mckeone, Debbie Spear, Ryan A Nofziger, Ronald C Sanders, Danielle Ahn, Jasmine C Dowell, Asdis F Wagner, Neal J Thomas, Prithvi Sendi, W Joshua Frazier, Courtney M Rowan, Parag N Jain, Dalia A Bashir, Stuart H Friess, Brian M Varisco, Jocelyn Grunwell, Aline B Maddux, Stephen T Famularo, Nadir Yehya

Faculty, Staff and Students Publications

Background: Hyper-inflammation is common to multiple critical care syndromes, including acute respiratory distress syndrome (ARDS) and sepsis, and is associated with worse outcomes. A signature of hyper-inflammatory ARDS has been described in adults using IL-6, TNFR1, and bicarbonate, and has prognostic utility. We investigated the application of this traditional parsimonious signature to pediatric ARDS patients and tested whether we could improve prognostic enrichment using other cytokines.

Methods: We leveraged a prospective multicenter cohort study of 500 children with ARDS (Linking Endotypes and Outcomes in Pediatric Acute Respiratory Distress Syndrome [LEOPARDS]; NCT04113434) study. Plasma samples were obtained within 24 h …