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Loss Of Nemp1 Disrupts Female Meiosis And Activates A Conserved Atm-Chk2 Checkpoint, Bilal Ahmad Hakim, Yonit Tsatskis, Ling Zhang, Esther Choi, Ying Zhang, Didier Hodzic, Que Wu, Muyun Zhang, Maryam Pashaei, Kyungwon Ha, Jannette Rusch, Julie A Brill, Miguel Angel Brieño-Enríquez, Andrea Jurisicova, Helen Mcneill Jul 2026

Loss Of Nemp1 Disrupts Female Meiosis And Activates A Conserved Atm-Chk2 Checkpoint, Bilal Ahmad Hakim, Yonit Tsatskis, Ling Zhang, Esther Choi, Ying Zhang, Didier Hodzic, Que Wu, Muyun Zhang, Maryam Pashaei, Kyungwon Ha, Jannette Rusch, Julie A Brill, Miguel Angel Brieño-Enríquez, Andrea Jurisicova, Helen Mcneill

2020-Current year OA Pubs

Female germ cells must preserve the integrity of their genome and generate genetic diversity via meiotic recombination. This challenging process is error prone. Highly conserved checkpoint pathways detect errors in recombination and DNA damage, inducing the death of defective oocytes. Nuclear Envelope Membrane Protein (NEMP) homologs are highly conserved proteins critical for fertility in flies, worms, fish and mice. They localize to the inner nuclear envelope where they provide mechanical support. However, why NEMP homologs are specifically required for fertility is still unclear. Using both Drosophila and mouse models, we establish that loss of NEMP homologs leads to activation of …


Performance Evaluation Of The Xpert® Hcv Test On Fingerstick Blood In A Prospective Observational Clinical Study At Clia-Waived Sites In The United States, Jennifer R Havens, L Madeline Mccrary, Et Al. Jul 2026

Performance Evaluation Of The Xpert® Hcv Test On Fingerstick Blood In A Prospective Observational Clinical Study At Clia-Waived Sites In The United States, Jennifer R Havens, L Madeline Mccrary, Et Al.

2020-Current year OA Pubs

BACKGROUND: A major barrier to hepatitis C virus (HCV) elimination in the United States is the lack of a point-of-care test to confirm the presence of HCV RNA. The purpose of this clinical trial was to evaluate the performance of the Xpert® HCV test at CLIA-waived sites in the United States.

METHODS: Participants at risk and/or with signs/symptoms of HCV infection provided fingerstick blood that was tested on the Xpert® HCV test and venous blood tested using the cobas® HCV and Elecsys® Anti-HCV II tests. Fingerstick blood was collected at CLIA-waived sites by individuals self-trained on collection procedures.

RESULTS: Participants …


The Best Of Both Worlds: How Combining A Large Language Model And A Rule-Based Algorithm Makes Catheter-Associated Urinary Tract Infection Surveillance More Efficient, Joshua Nordman, Claire Najjuuko, Nicholas Jeschke, Rachael E Snyders, Maria Cristina Vazquez Guillamet, Hilary Babcock, Patrick Reich, Andrew Atkinson, Jonas Marschall, Abby Sung, Et Al. Jul 2026

The Best Of Both Worlds: How Combining A Large Language Model And A Rule-Based Algorithm Makes Catheter-Associated Urinary Tract Infection Surveillance More Efficient, Joshua Nordman, Claire Najjuuko, Nicholas Jeschke, Rachael E Snyders, Maria Cristina Vazquez Guillamet, Hilary Babcock, Patrick Reich, Andrew Atkinson, Jonas Marschall, Abby Sung, Et Al.

2020-Current year OA Pubs

BACKGROUND: Catheter-associated urinary tract infection (CAUTI) surveillance is critical for patient safety. Many healthcare systems use electronic algorithms to flag candidate infection events but still require manual chart review to confirm CAUTI cases. We evaluated the use of a large language model (LLM) to enhance CAUTI surveillance.

METHODS: We analyzed 919 potential CAUTI cases flagged by the electronic surveillance algorithm at Barnes-Jewish Hospital from 2021 to 2024. These cases were previously classified as 291 CAUTIs and 628 non-CAUTIs by trained infection preventionists (IPs). Several approaches for applying the National Healthcare Safety Network (NHSN) CAUTI definition after extracting clinical data from …


Recent Advances In Alzheimer's Disease: From Molecular Mechanisms To Therapeutic Strategies, Michelle D Rudman, Jason D Ulrich, David M Holtzman Jul 2026

Recent Advances In Alzheimer's Disease: From Molecular Mechanisms To Therapeutic Strategies, Michelle D Rudman, Jason D Ulrich, David M Holtzman

2020-Current year OA Pubs

Alzheimer's disease (AD) remains the leading cause of dementia worldwide and an escalating global health crisis. The hallmark amyloid plaques and neurofibrillary tangles (NFT) are now known to be accompanied by a complex array of pathologies that culminate in neurodegeneration and cognitive decline. New disease-modifying therapies for AD can now slow cognitive decline through the removal of amyloid plaques from the brain, but treatments to stop or prevent cognitive impairment remain elusive. In this review, we summarize the most recent updates in AD research on pathologic disease mechanisms and therapeutic strategies, highlighting advancements in apolipoprotein E (APOE) biology, neuroimmunology, biomarker …


Tgf-Β Drives The Conversion Of Conventional Nk Cells Into Uterine Tissue-Resident Nk Cells To Support Murine Pregnancy, Josselyn D Barahona, Liping Yang, D Michael Nelson, Wayne M Yokoyama Jul 2026

Tgf-Β Drives The Conversion Of Conventional Nk Cells Into Uterine Tissue-Resident Nk Cells To Support Murine Pregnancy, Josselyn D Barahona, Liping Yang, D Michael Nelson, Wayne M Yokoyama

2020-Current year OA Pubs

Tissue microenvironments shape lymphocyte differentiation to align immune function with local physiological demands. Uterine natural killer (NK) cells are critical for reproductive success, yet the molecular cues in the uterus that instruct their specialized identities remain incompletely understood. Here, we identify a TGF-β-dependent differentiation pathway by which circulating conventional NK cells convert into uterine tissue-resident NK cells during murine pregnancy. Loss of TGF-β receptor II expression in


Multiple Event Segmentation Mechanisms In The Human Brain, Tan T Nguyen, Joset A Etzel, Matthew A Bezdek, Jeffrey M Zacks Jul 2026

Multiple Event Segmentation Mechanisms In The Human Brain, Tan T Nguyen, Joset A Etzel, Matthew A Bezdek, Jeffrey M Zacks

2020-Current year OA Pubs

The human brain segments continuous experience into discrete events, with theoretical accounts proposing two distinct mechanisms: creating boundaries at points of high


Trends In Lung Cancer Survival: Superior Outcomes In Us Veterans Compared With The General Population, Nikki E Rossetti, Brendan T Heiden, Steven Tohmasi, Nahom Seyoum, Theodore Thomas, Whitney S Brandt, Sara Malone, Yan Yan, Ana Baumann, Su-Hsin Chang, Daniel Kreisel, Ruben Nava, Bryan Meyers, Benjamin Kozower, Varun Puri, Et Al. Jul 2026

Trends In Lung Cancer Survival: Superior Outcomes In Us Veterans Compared With The General Population, Nikki E Rossetti, Brendan T Heiden, Steven Tohmasi, Nahom Seyoum, Theodore Thomas, Whitney S Brandt, Sara Malone, Yan Yan, Ana Baumann, Su-Hsin Chang, Daniel Kreisel, Ruben Nava, Bryan Meyers, Benjamin Kozower, Varun Puri, Et Al.

2020-Current year OA Pubs

BACKGROUND: Non-small cell lung cancer (NSCLC) remains the leading cause of cancer-related mortality in the United States, but survival outcomes are shifting with evolving therapies and screening. Recent findings suggest that survival improvements vary across health-care systems, with favorable trends observed in the Veterans Health Administration (VHA). We sought to compare NSCLC survival trends across US health systems.

METHODS: We conducted a retrospective cohort study of patients with NSCLC (2007-2019) using data from the VHA and the National Cancer Database (NCDB), representing the non-VHA US general population. The primary exposure was health system (VHA vs non-VHA), and the primary outcome …


Subunit Composition Of The Katp Channels That Modulate Contractility Of Skeletal Muscle During Fatigue, Rosa Scala, Yuezhou Chen, Berk Mizrak, Gretchen A Meyer, Colin G Nichols Jul 2026

Subunit Composition Of The Katp Channels That Modulate Contractility Of Skeletal Muscle During Fatigue, Rosa Scala, Yuezhou Chen, Berk Mizrak, Gretchen A Meyer, Colin G Nichols

2020-Current year OA Pubs

ATP-sensitive potassium (KATP) channels are among the most expressed ion channels in skeletal muscle sarcolemma. While all KATP subunits can be detected in skeletal muscles, transcripts are enriched for KCNJ11 and ABCC9, suggesting that noncanonical Kir6.2/SUR2A assembly may constitute the majority of sarcolemmal KATP channels, but there has been no systematic dissection of KATP makeup in skeletal muscles. Here, we used a unique collection of murine lines selectively lacking specific channel-forming subunits (knockout, KO), and combined a genetic and pharmacological approach to determine which subunits of KATP channels are functionally relevant for skeletal muscle contraction. Under fatiguing conditions, isometric tetanic …


Long-Term Inactivation Mediated By Different Fgf-A Homologues On Heterologously Expressed Nav1.2 Currents, Yenisleidy Lorenzo-Ceballos, Pedro L Martinez-Espinosa, Xiao-Ming Xia, Christopher J Lingle Jul 2026

Long-Term Inactivation Mediated By Different Fgf-A Homologues On Heterologously Expressed Nav1.2 Currents, Yenisleidy Lorenzo-Ceballos, Pedro L Martinez-Espinosa, Xiao-Ming Xia, Christopher J Lingle

2020-Current year OA Pubs

A-isoforms of cytosolic growth factor homologous factors (FGF11-14) mediate long-term inactivation (LTI) of voltage-dependent sodium (NaV) channels. LTI is a rapid onset process that is competitive with the fast inactivation (IF) intrinsic to NaV channels, with little or no interconversion between inactivated states. Since recovery from LTI is orders of magnitude slower than recovery from IF, repetitive depolarizations lead to use-dependent accumulation of NaV channels in slow recovery states, thereby limiting NaV availability during trains of action potentials. Of the two or more N-terminal splice variants of the various FGF homologues, LTI specifically arises only from the A-isoform of each …


A Conserved Mechanism For Dimerization And Activation Of Superfamily 1a Uvrd-Family Helicases, Binh Nguyen, Kacey N Mersch, Ankita Chadda, Eric A Galburt, Timothy M Lohman Jul 2026

A Conserved Mechanism For Dimerization And Activation Of Superfamily 1a Uvrd-Family Helicases, Binh Nguyen, Kacey N Mersch, Ankita Chadda, Eric A Galburt, Timothy M Lohman

2020-Current year OA Pubs

DNA helicases are ATP-dependent motor proteins that catalyze duplex DNA unwinding and are involved in DNA repair, recombination, and replication restart. Prominent members of the non-hexameric SF1A UvrD-family helicases are Escherichia coli UvrD, Rep, Bacillus stearothermophilus PcrA, and Mycobacterium tuberculosis (Mtb) UvrD1. SF1A monomers are processive 3'-to-5' single-stranded DNA translocases but need to be activated to become DNA helicases. One mechanism of activation is dimerization. Whereas Rep, UvrD, and PcrA form non-covalent dimers, the Mtb UvrD1 helicase forms a redox-dependent covalent dimer. Dimerization of Mtb UvrD1 occurs between the same regulatory domain (2B) within each subunit stabilized by a disulfide …


Patient-Centered Approach To Surgical Prevention Of Ovarian Cancer: A Nonrandomized Clinical Trial, Karen H Lu, Andrea R Hagemann, Et Al. Jul 2026

Patient-Centered Approach To Surgical Prevention Of Ovarian Cancer: A Nonrandomized Clinical Trial, Karen H Lu, Andrea R Hagemann, Et Al.

2020-Current year OA Pubs

IMPORTANCE: Risk-reducing salpingo-oophorectomy (RRSO) is an effective option to prevent ovarian cancer in high-risk individuals, but adverse effects from premature menopause are a barrier to uptake. Interval salpingectomy with delayed oophorectomy (ISDO) may be an effective alternative.

OBJECTIVE: To evaluate the association of ISDO vs RRSO and sexual function and menopausal symptoms.

DESIGN, SETTING, AND PARTICIPANTS: This prospective, multicenter, nonrandomized (patient preference) clinical trial was performed among Women Choosing Surgical Prevention participants with a pathogenic or likely pathogenic germline variant conferring an increased risk for ovarian cancer. Patients from 9 US centers were enrolled from June 2, 2016, to October …


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 …


Characteristics Of Mortality In Hiv-Negative Cryptococcosis Patients: Analysis Of A Cohort Of 743 Patients, Kai Dai, Xinyao Jian, Chongliang Luo, Siguang Wang, Qiyu Pan, Xiaofeng Xu, Jia Liu, Fuhua Peng, Yong Chen, Ying Jiang Jul 2026

Characteristics Of Mortality In Hiv-Negative Cryptococcosis Patients: Analysis Of A Cohort Of 743 Patients, Kai Dai, Xinyao Jian, Chongliang Luo, Siguang Wang, Qiyu Pan, Xiaofeng Xu, Jia Liu, Fuhua Peng, Yong Chen, Ying Jiang

2020-Current year OA Pubs

BACKGROUND: Reports of cryptococcosis among patients without human immunodeficiency virus (HIV) infection are increasing. However, there is still a lack of data regarding the mortality characteristics in this population.

METHOD: The clinical, laboratory, imaging data from 743 HIV-negative patients with cryptococcosis were analyzed. Kaplan-Meier analysis was used to estimate all-cause mortality at 2-week, 10-week, and 1-year, with comparisons between groups using log-rank tests. Risk factor analysis was conducted using Cox models. Additionally, a meta-analysis was conducted on four recent large-scale cohort studies to investigate the differences in 2-week mortality of HIV-negative cryptococcosis across different regions. Statistical analyses were performed using …


Maternal Health And Sociodemographic Characteristics Influence Infant Growth To 24 Months In The Tunza Mwana Cohort: A Prospective Cohort Study, David Taylor Hendrixson, Mark J Manary, Et Al. Jul 2026

Maternal Health And Sociodemographic Characteristics Influence Infant Growth To 24 Months In The Tunza Mwana Cohort: A Prospective Cohort Study, David Taylor Hendrixson, Mark J Manary, Et Al.

2020-Current year OA Pubs

Upstream pathways influencing child growth are complex. Weight-for-age z-score (WAZ) reflects both ponderal and linear growth and can identify children at high mortality risk. Using data from a prospective cohort of 326 mother-child pairs in Kenya, we evaluated whether associations between maternal exposures and child growth outcomes in early and later childhood. Growth trajectories were examined using locally weighted scatterplot smoothing and piecewise linear mixed-effect models with a knot at age 3 months. Poisson regression models examined associations between maternal characteristics and child underweight (WAZ <  -2) and stunting (LAZ <  -2) before and after 3 months. Mean WAZ increased to a peak at 3 months before declining steadily through 24 months. Lower maternal education (adjusted β [aβ] -0.18; 95% CI: -0.24, -0.13), household crowding (aβ -0.2; 95% CI: -0.28, -0.11), lower wealth quintile (aβ -0.04; 95% CI: -0.06, -0.02) and multiparity (aβ -0.16; 95% CI: -0.23, -0.1) were associated with lower monthly rate of change in WAZ prior to age 3 months. Younger maternal age was associated with an increased monthly rate of change in WAZ (aβ = 0.13; 95% CI: 0.08, 0.18) before 3 months and decreased monthly WAZ (aβ -0.02; 95% CI: -0.03, -0.01) after 3 months. Preterm birth was associated with increased risk of underweight in both periods (aRR 2.77; 95% CI: 1.39-5.50). Maternal mental health, intimate partner violence and adverse childhood experiences were not significantly associated with child growth. Maternal nutritional, socio-economic and household-level factors shape early growth, emphasising the need for cross-sectoral programs to support growth.


A Call To Investigate The Association Between Histoplasmosis And Fatigue, Christian Hendrix, Julio Zuniga-Moya, Andrej Spec, Patrick Mazi Jul 2026

A Call To Investigate The Association Between Histoplasmosis And Fatigue, Christian Hendrix, Julio Zuniga-Moya, Andrej Spec, Patrick Mazi

2020-Current year OA Pubs

Historically, infections are subjectively associated with fatigue, a common yet poorly delineated syndrome. The impact on patient quality of life is the ultimate justification to evaluate fatigue in patients with infections. While fungal infections are subjectively associated with fatigue, there are minimal quantifiable fungal research outcomes that evaluate histoplasmosis and fatigue.


Multi-Center Comparison Of Corticotropin Releasing Hormone Vs. Desmopressin Stimulation Responses In Inferior Petrosal Sinus Sampling For Cushing's Disease, Samuel A Tenhoeve, Julie M Silverstein, Albert H Kim, Et Al. Jul 2026

Multi-Center Comparison Of Corticotropin Releasing Hormone Vs. Desmopressin Stimulation Responses In Inferior Petrosal Sinus Sampling For Cushing's Disease, Samuel A Tenhoeve, Julie M Silverstein, Albert H Kim, Et Al.

2020-Current year OA Pubs

OBJECTIVES: Inferior petrosal sinus sampling (IPSS) is important for confirming Cushing's Disease (CD). Due to lack of corticotropin releasing hormone (CRH) availability, desmopressin/DDAVP is being used as the alternative stimulating agent but has limited data regarding testing cutoffs.

DESIGN: We compared the stimulation profiles of desmopressin and CRH in patients with CD.

METHODS: Data from the multi-center Registry of Adenomas of the PItuitary and Related Disorders (RAPID) was evaluated. 93 patients with CD confirmed by pathology or biochemical remission that underwent IPSS testing prior to surgical resection (desmopressin [n = 57], CRH [n = 36] or both [n = 1]). …


Diagnostic Stewardship Of Respiratory Cultures Using Clinical Decision Support In The Picu, Anna C Sick-Samuels, John C Lin, Rebecca G Same, Et Al. Jul 2026

Diagnostic Stewardship Of Respiratory Cultures Using Clinical Decision Support In The Picu, Anna C Sick-Samuels, John C Lin, Rebecca G Same, Et Al.

2020-Current year OA Pubs

IMPORTANCE: Endotracheal aspirate culture (EAC) practices for evaluation of ventilator-associated infections (VAI) vary widely across pediatric hospitals, and overuse can contribute to overdiagnosis and overtreatment for VAI. Diagnostic stewardship strategies to optimize EAC testing practices may reduce overtesting and unnecessary antibiotic treatment.

OBJECTIVE: To evaluate the association of diagnostic stewardship of EACs using clinical decision support with culture rates, antibiotic use, and patient outcomes across a multicenter collaborative of pediatric intensive care units (PICUs).

DESIGN, SETTING, AND PARTICIPANTS: This was a multicenter cohort study with a pre-post study design among the BrighT STAR (Testing Stewardship for Antibiotic Reduction) Quality Improvement …


Prescribed Short-Acting Hormonal Contraceptive Use Among Premenopausal Females, Israel Bacha, Suleepon Uttamapinan, Hannah Harsanyi, Abigail Liberty, Lin Yang, Adetunji T Toriola Jul 2026

Prescribed Short-Acting Hormonal Contraceptive Use Among Premenopausal Females, Israel Bacha, Suleepon Uttamapinan, Hannah Harsanyi, Abigail Liberty, Lin Yang, Adetunji T Toriola

2020-Current year OA Pubs

IMPORTANCE: Hormonal contraceptive use has important implications for both reproductive and general health. However, the patterns and trends of short-acting hormonal contraceptive use among US premenopausal females remain insufficiently characterized.

OBJECTIVE: To evaluate trends in and factors associated with prescribed short-acting hormonal contraceptive use among US premenopausal females.

DESIGN, SETTING, AND PARTICIPANTS: Serial, cross-sectional analyses were conducted using US nationally representative data from the National Health and Nutrition Examination Survey (NHANES), including 10 survey cycles between 1999 to 2000 and 2017 to 2020 (before the COVID-19 pandemic). Participants included noninstitutionalized premenopausal females aged 15 years to younger than 60 years …


Beyond Lactate: Real-Time Resuscitation Targets For Septic Shock During Critical Care Transport, James L Li, Aaron J Lacy, Michael J Defilippo Jul 2026

Beyond Lactate: Real-Time Resuscitation Targets For Septic Shock During Critical Care Transport, James L Li, Aaron J Lacy, Michael J Defilippo

2020-Current year OA Pubs

No abstract provided.


Modern Molecular Profiling Recontextualizes The Nrg/Rtog 0539 Trial And Reveals Hidden High-Risk And Radiotherapy-Resistant Meningiomas, Leeor S Yefet, Clifford Robinson, Et Al. Jul 2026

Modern Molecular Profiling Recontextualizes The Nrg/Rtog 0539 Trial And Reveals Hidden High-Risk And Radiotherapy-Resistant Meningiomas, Leeor S Yefet, Clifford Robinson, Et Al.

2020-Current year OA Pubs

BACKGROUND: Meningiomas exhibit clinical heterogeneity. Radiotherapy (RT) remains the only adjuvant therapy, but tumor-control is variable, and biomarkers are limited. NRG/RTOG-0539 is the first prospective phase 2 trial to stratify meningioma patients for adjuvant RT based on clinical risk. Here, we apply modern molecular tools to this cohort and identify correlates of RT response.

METHODS: Tumor tissue from 100 RTOG-0539 patients was profiled using DNA methylation arrays, RNA sequencing, and whole-exome sequencing. Recurrence scores, Molecular Groups, gene expression, and copy number alterations were compared across clinical groups and between RT responders and non-responders; non-response was defined as progression or death …


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 …


Delayed Diagnosis Of A Rare Metabolic Disorder In Adulthood, Isaiah K Mensah, Angie Carreno Martinez, Taylor Wilson, Miguel Valdez, Maria Laura Duque Lasio Jul 2026

Delayed Diagnosis Of A Rare Metabolic Disorder In Adulthood, Isaiah K Mensah, Angie Carreno Martinez, Taylor Wilson, Miguel Valdez, Maria Laura Duque Lasio

2020-Current year OA Pubs

No abstract provided.


Cumulative Dose Of Chemotherapy And Survival Outcomes In Children With Average-Risk Medulloblastoma Treated On Children's Oncology Group Study Acns0331, Erin Wright, Catherine Billups, Sarah Rush, Yimei Li, Anna Janns, Jeff M Michalski, Ralph Salloum, Peter De Blank Jul 2026

Cumulative Dose Of Chemotherapy And Survival Outcomes In Children With Average-Risk Medulloblastoma Treated On Children's Oncology Group Study Acns0331, Erin Wright, Catherine Billups, Sarah Rush, Yimei Li, Anna Janns, Jeff M Michalski, Ralph Salloum, Peter De Blank

2020-Current year OA Pubs

BACKGROUND: Although survival outcomes for average-risk (AR) medulloblastoma remain excellent, patients experience significant long-term toxicities. To evaluate the effect of therapy dose modifications among children with AR medulloblastoma, we examined the association of cumulative chemotherapy dose with overall survival (OS) and event-free survival (EFS) for patients treated on Children's Oncology Group (COG) study ACNS0331.

METHODS: A cohort of children enrolled on ACNS0331 (medulloblastoma confirmed by methylation, received standard dose craniospinal radiation, and completed all cycles of chemotherapy) were evaluated for cumulative chemotherapy dose intensity continuously and categorically (≥75% or < 75% of planned dose). Cox proportional hazards regression models were used to examine associations of proportion of planned chemotherapy received with outcome. A secondary analysis separately evaluated each of the 4 molecular subgroups: Wnt-activated (WNT), Sonic Hedgehog Activated (SHH), group 3 and group 4.

RESULTS: Two hundred thirty-five children were followed for a median of …


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 …


Laser Interstitial Thermal Therapy Enhances Bidirectional Blood-Brain Barrier Permeability In Glioblastoma, Ryan T Cleary, Yiwei Fu, David Giles, Jinyun Yuan, Diogo P Moniz Garcia, Danny Palmer, Rowland H Han, Timothy Woodiwiss, Alicia B Yang, Dimitrios Mathios, Hong Chen, Albert H Kim Jul 2026

Laser Interstitial Thermal Therapy Enhances Bidirectional Blood-Brain Barrier Permeability In Glioblastoma, Ryan T Cleary, Yiwei Fu, David Giles, Jinyun Yuan, Diogo P Moniz Garcia, Danny Palmer, Rowland H Han, Timothy Woodiwiss, Alicia B Yang, Dimitrios Mathios, Hong Chen, Albert H Kim

2020-Current year OA Pubs

BACKGROUND: Laser interstitial thermal therapy (LITT) is a minimally invasive treatment for glioblastoma that increases blood-brain barrier (BBB) permeability. However, the mechanisms and spatiotemporal features of this effect remain unclear. It is also unknown whether LITT promotes release of circulating tumor DNA (ctDNA).

METHODS: Using our previously developed LITT mouse model, we employed single-cell RNA-sequencing (scRNA-seq) to investigate gene expression changes in endothelial cells following LITT in the naive mouse brain. Brains were also harvested at multiple time points to assess LITT effects on tight junction (TJ) integrity and transcytosis via immunofluorescence and transmission electron microscopy. Human glioblastoma tissues were …


Improving Infant Health Equity: What Have We Learned, What Do We Do, Dewayne M Pursley, F Sessions Cole Jul 2026

Improving Infant Health Equity: What Have We Learned, What Do We Do, Dewayne M Pursley, F Sessions Cole

2020-Current year OA Pubs

The United States neonatal and infant mortality rates have declined substantially over the last six decades. Despite these reductions, significant racial disparities in mortality and other important outcomes have persisted. While increased risk of preterm birth is a major contributor to these differences, racial inequities in risk-adjusted outcomes such as gestational age-specific and major congenital anomaly-associated mortality remain. Race-specific differences in inter- and intra-neonatal intensive care unit (NICU) practices associated with worse outcomes for infants of color suggest opportunities for reducing these disparate health outcomes during and after NICU hospitalization. Identifying NICU-based contributing factors and implementing factor-specific improvement strategies can …


Cardiorespiratory Signatures Of Necrotizing Enterocolitis: A 4-Nicu Study Of Very Low Birth Weight Infants, Sherry L Kausch, Zachary A Vesoulis, Colm P Travers, Carie Taveras, Rachel Benz, Amanda Duncan, Angela K S Gummadi, Katy N Krahn, Rakesh Sahni, Joseph Isler, Namasivayam Ambalavanan, J Randall Moorman, Douglas E Lake, Karen D Fairchild, Brynne A Sullivan Jul 2026

Cardiorespiratory Signatures Of Necrotizing Enterocolitis: A 4-Nicu Study Of Very Low Birth Weight Infants, Sherry L Kausch, Zachary A Vesoulis, Colm P Travers, Carie Taveras, Rachel Benz, Amanda Duncan, Angela K S Gummadi, Katy N Krahn, Rakesh Sahni, Joseph Isler, Namasivayam Ambalavanan, J Randall Moorman, Douglas E Lake, Karen D Fairchild, Brynne A Sullivan

2020-Current year OA Pubs

BACKGROUND: Necrotizing enterocolitis (NEC) is a disorder in very low birth weight (VLBW, < 1500 g) infants, associated with significant morbidity and mortality. Earlier detection of NEC may improve outcomes. We hypothesized that NEC's physiological signature resembles that of sepsis and that our model developed for sepsis, the Pulse Oximetry Warning System (POWS), would also predict NEC.

OBJECTIVES: Assess relationships between continuous heart rate (HR) and oxygen saturation (SpO

METHODS: In a retrospective multicenter analysis, we studied VLBW infants at four level IV NICUs, identifying cases of late-onset sepsis (LOS) and NEC (Bell stages 2 or 3). Using HR and SpO

RESULTS: Among 3914 infants evaluated, 5% had NEC and 13% had LOS. Cardiorespiratory data analysis showed that HR/SpO

CONCLUSION: NEC shares a cardiorespiratory signature with LOS. POWS predicted NEC with a dynamic rise before clinical diagnosis.

IMPACT: A cardiorespiratory early warning score analyzing …


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 …