Digital Commons Network^™

Plasma Proteins Associated With Psychosocial Factors And Heart Disease: The Jackson Heart Study, Sara N O'Brien, Madeline G Gillman, Michael D Green, Daniel E Cruz, James S Floyd, Susan Hankinson, Daniel H Katz, Xiaojuan Liu, Michelle C Odden, Bruce M Psaty, Alexander P Reiner, Jerome I Rotter, Stephen S Rich, Robert E Gerszten, Amil Shah, Mario Sims, Usman A Tahir, Lesley F Tinker, Alexis C Wood, Bing Yu, Anthony S Zannas, Laura M Raffield, Láshauntá M Glover

Faculty, Staff and Students Publications

Background: Knowledge of proteomic mechanisms explaining the link between psychosocial stress and cardiovascular disease is limited. This study aimed to (1) identify plasma proteins associated with psychosocial factors and (2) assess associational pathways between psychosocial factors, identified proteins, and incident cardiovascular disease events in a discovery cohort, JHS (Jackson Heart Study), and 2 replication cohorts, the CHS (Cardiovascular Health Study), and the MESA (Multi-Ethnic Study of Atherosclerosis).

Methods: JHS participants from exam 1 (2000-2004) with SomaScan 1.3k platform proteomics data were included (n=2143, mean age=55.3). Depressive symptoms and perceived stress scores were measured via the 20-item Center for Epidemiological Studies …

Development And Pilot Testing Of Transdiagnostic Exposure Therapy/Behavioral Activation For Autistic Adolescents With Internalizing Disorders, Andrew G Guzick, Elizabeth A Kaplan-Kahn, Jessica Szu-Chi Cheng, Callie Murphy, Ogechi C Onyeka, David Riddle, Tracy Dibbs, Leandra N Berry, Robin P Goin-Kochel, Eric A Storch

Faculty, Staff and Students Publications

Internalizing disorders disproportionately affect autistic adolescents, though limited research has focused on tailoring therapy for this population. The purposes of this paper were (1) to describe the development of a transdiagnostic exposure therapy/behavioral activation intervention for autistic adolescents with internalizing disorders, and (2) to present a pilot test of feasibility, acceptability, and efficacy of the intervention. The development of this therapy is described in detail, which prioritized the following domains: (1) building on the existing evidence base of exposure-based cognitive behavioral therapy for autistic youth with anxiety disorders, (2) involving caregivers considerably, (3) incorporating autism-specific considerations into case conceptualization and …

Hiding In Plain Sight: A Call To Prevent Cutaneous Leishmaniasis Transmission In The United States, Juan David Ramírez, Sarah M Gunter, Megan Coffee, Norman Beatty, Dawn M Wetzel

Faculty, Staff and Students Publications

Cutaneous leishmaniasis (CL), once considered a travel-associated tropical disease, is increasingly transmitted within the United States, particularly in southern regions. Despite mounting evidence of local transmission, public health recognition and preventive infrastructure remain limited. This Viewpoint highlights the urgent need to shift the U.S. CL response from questioning endemicity to preventing transmission. We review ecological, clinical, and surveillance data demonstrating the presence of competent vectors, animal reservoirs, and autochthonous human cases. Diagnostic delays, underreporting, and insufficient provider training contribute to missed prevention opportunities. Climate change and peri-urban rodent-human contact data further heighten future risk. A coordinated response is essential, including …

Bridging Access Gaps In Radiotherapy: Knowledge-Based Planning In A Resource-Constrained Clinical Setting, Milton E Ixquiac Cabrera, Erick O Montenegro, Matthew Schmidt, Baozhou Sun, James A Kavanaugh, Taoran Li, Angel Velarde, Vicky De Falla, Francisco Reynoso

Faculty, Staff and Students Publications

Background/purpose: Radiotherapy access in low- and middle-income countries (LMICs) is severely limited by shortages of trained personnel, high patient volumes, and large waiting times for manual treatment planning. Knowledge-based planning (KBP) has shown promise in high-income settings, yet its feasibility in resource-constrained environments remains underexplored. This study aimed to evaluate the feasibility of adapting a KBP model developed at a high-income institution for clinical use at Liga Nacional Contra el Cáncer (LNCC) in Guatemala for gynecological radiotherapy planning.

Materials and methods: A RapidPlan KBP model (Varian-Siemens Healthineers, Palo Alto, CA, USA) originally developed at Washington University in St. Louis using …

A Multi-Institutional Epid-Based 3d Dose Reconstruction Model In A Virtual Phantom For Standardized Patient Qa, Benchmarking And Auditing For Stereotactic Radiosurgery, Benjamin Zwan, Emily Searle, Cameron Stanton, Ching-Ling Teng, Seng Boh Lim, Andrew Dipuglia, Richard Popple, Michael Lovelock, Ashley Cullen, Conor K Mcgarry, Victoria Robinson, Sergei Zavgorodni, Baozhou Sun, Xiaodong Zhao, Matthew Schmidt, Juan-Francisco Calvo-Ortega, Gemma Warner, Andrew Cousins, Michael Barnes, Peter Greer

Faculty, Staff and Students Publications

Background and purpose: For single-isocentre multi-target (SIMT) stereotactic radiosurgery (SRS), benchmarking, auditing and inter-institutional standardisation of dose verification remain challenging as they require specialized equipment and expertise. This work aims to develop and validate an electronic portal imaging device (EPID)-based technique to determine 3D dose in a virtual spherical phantom which is applicable across institutions for SIMT SRS dose verification.

Materials and methods: Small-field output factors from 11 international centres were measured in-water for the TrueBeam linear accelerator, including jaw-defined and high-definition multi-leaf collimator (MLC) fields from 0.5 × 0.5 to 20 × 20 cm2 and depths from 1.5-20 cm. …

Survodutide For The Treatment Of Obesity: Baseline Characteristics Of The Synchronize Cardiovascular Outcomes Trial, Elke Platz, Lee M Kaplan, Carel W Le Roux, Sean Wharton, Svenja Burger, Samina Ajaz Hussain, Martina Brueckmann, Elena Startseva, Constanze Fey, Mikhail N Kosiborod, Biykem Bozkurt

Faculty, Staff and Students Publications

No abstract provided.

Lp(A) Has Specific Effects On Coronary Artery Disease Independent Of Ldl-C: A Mendelian Randomization Study, Moa P Lee, Sarah H Koenigsberg, Mohammad Y Anwar, Laura M Raffield, Zhaotong Lin, Anna F Ballou, John N Booth, Thibaut Davy-Mendez, Helina Kassahun, Shia T Kent, J Antonio G López, Keri L Monda, Kari E North, Rina Yarosh, Christie M Ballantyne, Misa Graff, Christy L Avery

Faculty, Staff and Students Publications

Background: Mendelian randomization studies suggest a causal effect of lipoprotein(a) (Lp(a)) on atherosclerotic cardiovascular disease. Noncardiovascular effects (eg, diabetes risk) are inadequately investigated.

Objectives: In this noninterventional phenome-wide association study designed to better understand the potential causal role of Lp(a), direct causal phenotypic effects of exposure to Lp(a) were estimated. Also, the association between LPA null allele rs41272114 with type 2 diabetes was assessed, and ancestry-specific Lp(a) thresholds were determined.

Methods: In the UK Biobank (n = 425,677 adults, 55% female), we studied 1,456 phenotypes spanning 18 classes using 4 ancestry-specific polygenic risk scores and false discovery rate multiple testing …

A Smoking-Related Plasma Protein Score And Smoking-Related Cancer Risk And Mortality In The Atherosclerosis Risk In Communities Study, Meng Ru, Christopher Douville, Aghiles Guenoun, Hana Zahed, Christie M Ballantyne, Kenneth R Butler, Josef Coresh, David J Couper, Panagis Galiatsatos, Marc J Gunter, Ron C Hoogeveen, Mattias Johansson, Corinne E Joshu, P Martijn Kolijn, Christina M Lill, Jiayun Lu, Michael T Marrone, Giovanna Masala, David C Muller, Anna E Prizment, Raul Zamora-Ros, Nilanjan Chatterjee, Adrienne Tin, Elizabeth A Platz

Faculty, Staff and Students Publications

Background: Self-reported smoking may not fully capture individualized risk of smoking-related cancer, but circulating proteins may reflect biological consequences of smoking. Thus, we developed a score based on smoking-related proteins and evaluated its association with smoking-related cancer.

Methods: This prospective cohort study included 10 563 participants aged 47-70 years in the Atherosclerosis Risk in Communities study. Plasma proteins were measured using the SomaScan Platform (SomaLogic Operating Co, Inc). The score was constructed from proteins associated with current smoking, pack-years, or recent quitting identified by linear regression and elastic net regression. Cox regression was used to estimate adjusted hazard ratios and …

Fructose: Metabolic Signal And Modern Hazard, Richard J Johnson, Miguel A Lanaspa, Dean R Tolan, Marcus D Goncalves, Samir Softic, Kimber L Stanhope, Laura G Sánchez-Lozada, Mark A Herman, Joshua D Rabinowitz

Faculty, Staff and Students Publications

There is much interest in the role of sweeteners such as table sugar (sucrose) and high-fructose corn syrup in obesity and metabolic disease. Both sweeteners consist of glucose and fructose, two six-carbon isomeric sugars. Whereas glucose ingestion may promote obesity through its effects to stimulate insulin secretion, fructose has unique metabolic effects that promote triglyceride synthesis and fat accumulation. These effects arise from fructose's well-known role as a signal of metabolic plenty. Under modern conditions of overnutrition, chronic excess fructose drives features of metabolic syndrome. Emerging evidence further links fructose to cancer and dementia. Here we review the biochemical, molecular …

Plasma Metabolites After 10-Weeks Of Glucose Vs Fructose-Sweetened Beverages In Subjects With Overweight/Obesity, Mélanie Guirette, Danielle E Haslam, Jiantao Ma, Peter J Havel, Kimber L Stanhope, Olga Ilkayeva, Christopher B Newgard, Nicola M Mckeown, Mark A Herman

Faculty, Staff and Students Publications

To identify metabolites as potential biomarkers of fructose vs glucose consumption and related metabolic changes, we conducted exploratory metabolomic profiling of fasting blood samples from participants in a double-blind, parallel-arm trial involving 31 male and female adults with overweight or obesity, both before and after supplementation with glucose- or fructose-sweetened beverages. Orthogonal Partial Least Square Discriminatory Analysis (OPLS-DA) was used to identify metabolites that could discriminate between the 2 intervention groups. Changes in 16 metabolites (5 of which are branched-chain amino acid catabolic pathway metabolites) and the branched chain keto acid (BCKA) composite score showed nominal (FDR adjusted P-value …

Risk Factors When Considering Heart Transplants With Donors Aged 45 Or Above: Development Of A Novel Mortality Risk Score Using Unos Data, Anh Nguyen, Abbas Rana, Alexis Shafii, Gabriel Loor, Andrew Civitello, Todd Rosengart, Kenneth Liao

Faculty, Staff and Students Publications

Background: Current International Society for Heart and Lung Transplantation guidelines support the use of donor hearts aged ≥45 if significant coronary artery disease is excluded and ischemic time remains < 4 hours. This study aimed to identify additional risk factors affecting patient survival and develop a risk score for recipients of older donor hearts.

Methods: We performed a retrospective cohort study of adult heart transplants using donors aged ≥45 from January 2000 to June 2024, using United Network for Organ Sharing data. Multivariable Cox regression identified risk factors for mortality, and the most significant variables were used to construct a risk score.

Results: Of 58,859 adult heart transplants, 9,843 (16.7%) involved donors aged ≥45. Recipient median age was 58 years (interquartile range, 51-64). One-, 5-, …

Reducing Transfusions In Neuromuscular Spinal Fusion: A National Surgical Quality Improvement Program-Pediatrics Quality Improvement Project, Holden Archer, Venessa L Pinto, Farrah Russell, Valentina Briceño, Melissa Ard, Lisa Hensch, Jun Teruya, Tanisha G Daugherty, Wallis Molchen, Ryan D Coleman, Darrell Hanson, Frank T Gerow, Nicole I Montgomery

Faculty, Staff and Students Publications

Background: Pediatric spinal fusion can result in substantial blood loss, particularly in patients with scoliosis related to underlying neuromuscular (NM) disease. Transfusion is frequently required but carries risks including transfusion reactions, alloimmunization, volume overload, and infection.

Local problem: The American College of Surgeons National Surgical Quality Improvement Program-Pediatrics (ACS NSQIP-P) is a nationally validated, risk-adjusted national outcomes registry. At our institution, ACS NSQIP-P data identified our institution as a high outlier in transfusion for neuromuscular scoliosis patients.

Methods: A multidisciplinary group convened from January 2024 to June 2024 to design and implement a perioperative pathway with the primary goal of …

High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology Of Lung Cancer Consortium, Yanhong Liu, Yafang Li, Jinyoung Byun, Vikram R Shaw, Claudio Pikielny, Bo Peng, Chao Cheng, Spiridon Tsavachidis, Xiangjun Xiao, Dakai Zhu, Younghun Han, Ivan P Gorlov, Olga Y Gorlova, Michael Cole, Colette R Gaba, Erin L Crawford, Kristen Purrington, Ellen L Goode, Ping Yang, James Mckay, John K Field, Geoffrey Liu, Rayjean J Hung, Jun Xia, Jiyeon Choi, Matthew B Schabath, Jaclyn Lopiccolo, David C Christiani, Joan Bailey-Wilson, Ann G Schwartz, James C Willey, Diptasri Mandal, Susan M Pinney, Christopher I Amos

Faculty, Staff and Students Publications

Introduction: Rare, deleterious germline variants are key contributors to inherited lung cancer (LC) risk. The Genetic Epidemiology of LC Consortium (GELCC) has curated valuable high-risk LC families and is uniquely positioned to uncover rare, high-penetrance variants underlying familial LC (FLC).

Methods: We performed whole-genome and exome sequencing on germline DNA from 120 high-risk LC families (177 FLC cases, 309 unaffected relatives). We prioritized rare (allele frequency < 1% in the genome aggregation database), potentially deleterious variants present in two or more FLC cases. These variants were then validated in 10,085 sporadic LC (SLC) cases and 612,970 controls.

Results: We identified 118 candidate variants, 28 of which were validated in SLC with strong statistical support. We discovered a novel pathogenic axis of three truncating variants in GALNT6, MUC4, and ERBB3 genes, which …

Phenotypic Diversity And Outcomes In Pediatric Nmda Receptor Encephalitis: A 15-Year Retrospective Study From The Largest Children's Hospital In The United States, Alexander J Sandweiss, Timothy Erickson, Yike Jiang, Varun Kannan, Jonathan M Yarimi, Kristen S Fisher, Nikita Shukla, Tim Lotze, Eyal Muscal, Kristy O Murray

Faculty, Staff and Students Publications

Anti‐NMDAR encephalitis (NMDARE) is an autoantibody‐mediated disorder characterized by seizures, movement disorders, neurocognitive deficits, and psychosis, but the complete phenotypic heterogeneity, and outcomes are incompletely understood in children. This single‐center retrospective analysis of NMDARE at the largest pediatric hospital in the United States between 2009 and 2024 screened 115 patients diagnosed with NMDARE. 103 had sufficient clinical data available for analyses. Two‐thirds were Hispanic, disproportionate to the Houston metro area demographics, and Hispanic patients had a higher CSF white cell count and antibody titer. Approximately one‐half of the patients with idiopathic NMDARE presented with a focal cortical phenotype that localized …

Maternal Fish Intake In The Year Prior To Conception And Birth Defects, National Birth Defects Prevention Study, 1997-2011, Dorothy Kim Waller, Zeyu Miao, Renata H Benjamin, Richard Finnell, Nithya Lakshmi Mohan Dass, Eirini Nestoridi, Marcia C De Oliveira Otto, Julie Peterson, Tunu Ramadhani, Mark A Canfield

Faculty, Staff and Students Publications

Background: Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.

Methods: Using logistic regression, data was analyzed for 29,242 mothers of infants with birth defects and 10,973 mothers of control infants who participated in the National Birth Defects Prevention Study (NBDPS) and delivered between 1997 and 2011. We focused on associations between mothers who reported high fish intake of 2 or more servings of fish per week for the year prior to …

Dolutegravir Developmental Toxicity Is Mitigated By Magnesium And Folate In Zebrafish Embryos, Robert M Cabrera, Ahmed Mohamed, Ryoko Minowa, Katheryn A Neugebauer, Daniel A Gorelick

Faculty, Staff and Students Publications

Integrase strand transfer inhibitors have transformed human immunodeficiency virus (HIV) therapy, yet the widely prescribed drug dolutegravir (DTG) has been linked to developmental toxicity, and its teratogenic mechanism remains unclear. Here, we used zebrafish to dissect DTG toxicity during early vertebrate development. DTG exposure from 2-4 h post-fertilization (hpf) to 24 hpf produced high mortality and abnormal morphology. Co-treatment with folates partially restored normal morphology, whereas calcium had no effect. Strikingly, supplementation with magnesium (Mg) partially rescued DTG-exposed embryos, implicating Mg availability in protection. In competitive binding assays, Mg increased binding of folate to purified folate receptor (FOLR1) by 30% …

Single-Nuclei Transcriptomic Profiling Of Human Myocardium In Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency, Hanna J Tadros, Diwakar Turaga, Yi Zhao, Chang-Ru Tsai, Lalita Wadhwa, Debra L Kearney, Iki Adachi, Xiao Li, James F Martin

Faculty, Staff and Students Publications

No abstract provided.

The "Hallett Sign" Of Functional Jerky Movement Disorder, Jon Stone, Anthony E Lang, Joseph Jankovic, Michele Tinazzi, Barbara A Dworetzky, Alan Carson, Marina A J Tijssen

Faculty, Staff and Students Publications

No abstract provided.

Adhesion G Protein-Coupled Receptors, Tobias Langenhan, Garret R Anderson, Demet Araç, Gabriela Aust, Monserrat Avila-Zozaya, Sofie Morsing Bagger, Patrick Barth, Sandra Berndt, Stephen C Blacklow, Beatriz Blanco-Redondo, Antony A Boucard, James P Bridges, Lara-Sophie Brodmerkel, Kathleen M Caron, Yin Kwan Chung, Andrew N Dates, Virginea De Araujo Farias, Daniel Del Toro, Joseph G Duman, Felix B Engel, David M Favara, Caroline J Formstone, Chaoyu Fu, Alain Garcia De Las Bayonas, Anastasia Georgiadi, David E Gloriam, Randy A Hall, Jörg Hamann, Peter W Hildebrand, Cheng-Chih Hsiao, Bill X Huang, Jonathan A Javitch, Hee-Yong Kim, Robert J Kittel, Gunnar Kleinau, Richard Leduc, Ines Liebscher, Hsi-Hsien Lin, Joshua Linnert, Marie-Gabrielle Ludwig, David C Martinelli, Signe Mathiasen, Daniel Matúš, Mariam Melkumyan, Ana L Moreno-Salinas, Jan Mulder, Michael A Nash, Kasturi Pal, Daniel T Pederick, Nicole A Perry-Hauser, Xianhua Piao, Yu-Qi Ping, Dimitris G Placantonakis, Fabian Pohl, Simone Prömel, Mette M Rosenkilde, Laurent Sabbagh, Richard C Sando, Patrick Scheerer, Torsten Schöneberg, Elena Seiradake, Mareike Selcho, Florian Seufert, Abhishek K Singh, Georgios Skiniotis, Katja Spiess, Norbert Sträter, David Strutt, Thomas C Südhof, Jinpeng Sun, Gregory G Tall, Doreen Thor, Douglas G Tilley, Kimberley F Tolias, Mario Vallon, Erwin G Van Meir, Benoit Vanhollebeke, Giselle R Wiggin, Uwe Wolfrum, Jie Yan, Nathan A Zaidman, Yimin Zou, Nicole Scholz

Faculty, Staff and Students Publications

Adhesion G protein-coupled receptors (aGPCRs) constitute a structurally and functionally distinct group within the superfamily of GPCRs. In 2015, the International Union of Pharmacology invited the Adhesion GPCR Consortium to publish a comprehensive review about aGPCRs and establish a unified nomenclature. Since then, substantial progress has been made in delineating the biological roles, molecular architecture, biochemical properties, expression profiles, ligand repertoire, and activation and signaling strategies of aGPCRs. Commensurate with these advances, their relevance to human pathophysiology has become increasingly apparent. In a coordinated effort, the Adhesion GPCR Consortium has reviewed recent progress in this field and provides a comprehensive …

Adhesion G Protein-Coupled Receptors, Tobias Langenhan, Garret R Anderson, Demet Araç, Gabriela Aust, Monserrat Avila-Zozaya, Sofie Morsing Bagger, Patrick Barth, Sandra Berndt, Stephen C Blacklow, Beatriz Blanco-Redondo, Antony A Boucard, James P Bridges, Lara-Sophie Brodmerkel, Kathleen M Caron, Yin Kwan Chung, Andrew N Dates, Virginea De Araujo Farias, Daniel Del Toro, Joseph G Duman, Felix B Engel, David M Favara, Caroline J Formstone, Chaoyu Fu, Alain Garcia De Las Bayonas, Anastasia Georgiadi, David E Gloriam, Randy A Hall, Jörg Hamann, Peter W Hildebrand, Cheng-Chih Hsiao, Bill X Huang, Jonathan A Javitch, Hee-Yong Kim, Robert J Kittel, Gunnar Kleinau, Richard Leduc, Ines Liebscher, Hsi-Hsien Lin, Joshua Linnert, Marie-Gabrielle Ludwig, David C Martinelli, Signe Mathiasen, Daniel Matúš, Mariam Melkumyan, Ana L Moreno-Salinas, Jan Mulder, Michael A Nash, Kasturi Pal, Daniel T Pederick, Nicole A Perry-Hauser, Xianhua Piao, Yu-Qi Ping, Dimitris G Placantonakis, Fabian Pohl, Simone Prömel, Mette M Rosenkilde, Laurent Sabbagh, Richard C Sando, Patrick Scheerer, Torsten Schöneberg, Elena Seiradake, Mareike Selcho, Florian Seufert, Abhishek K Singh, Georgios Skiniotis, Katja Spiess, Norbert Sträter, David Strutt, Thomas C Südhof, Jinpeng Sun, Gregory G Tall, Doreen Thor, Douglas G Tilley, Kimberley F Tolias, Mario Vallon, Erwin G Van Meir, Benoit Vanhollebeke, Giselle R Wiggin, Uwe Wolfrum, Jie Yan, Nathan A Zaidman, Yimin Zou, Nicole Scholz

Faculty, Staff and Students Publications

Adhesion G protein-coupled receptors (aGPCRs) constitute a structurally and functionally distinct group within the superfamily of GPCRs. In 2015, the International Union of Pharmacology invited the Adhesion GPCR Consortium to publish a comprehensive review about aGPCRs and establish a unified nomenclature. Since then, substantial progress has been made in delineating the biological roles, molecular architecture, biochemical properties, expression profiles, ligand repertoire, and activation and signaling strategies of aGPCRs. Commensurate with these advances, their relevance to human pathophysiology has become increasingly apparent. In a coordinated effort, the Adhesion GPCR Consortium has reviewed recent progress in this field and provides a comprehensive …

Seroprevalence Of Helicobacter Pylori Infection Among Asymptomatic Patients Served By A Safety-Net Healthcare System, Aaron P Thrift, Peyman Dinarvand, Luis Juarez, Jourdan Brown, Daniel Avila, Jennifer Mistica Zafiro Garcia-Villanueva, Lisa C Danek, Hammad Mahmood, Thomas Porter, Ann Gotschall, Noreen F Pirzada, Jaime J Rueda, Lee B Lu, Afroze Ali, Ijeoma Anyakorah, Sanjana J Bhattarai, Anees Fatima, Jessica Garcia, Hung V Nguyen, Bharat Joshi, Malvika Juneja, Misba S Lateef, Najda Mujtaba, Preethi V Nambi, Jay S Orr, Huma Rahman, Stephanie Nguyen, Amna Waqar, Yanyan Chen, David Y Graham, Hashem B El-Serag, Mimi C Tan

Faculty, Staff and Students Publications

Background & aims: Helicobacter pylori screening and eradication is a cost-effective strategy for primary gastric cancer prevention in high-risk populations outside the United States. There is a paucity of population-based H pylori seroprevalence data available in high-risk U.S. groups, particularly data for low-income, uninsured patient populations.

Methods: We used data from a cross-sectional study of a largely underserved, immigrant, and minority patient population. Inclusion criteria included asymptomatic individuals 30-65 years of age without prior H pylori testing or treatment. Consented patients completed a study survey and a blood draw to screen for H pylori using IgG serology. We calculated seroprevalence …

Congenital Aromatase Deficiency In An Adult Male: A Case Report Of Clinical Course And Symptom Reversal With Estrogen Supplementation, Peyton Coady, Arnaav Walia, Beatriz Hernandez, David E Hinojosa-Gonzalez, Adnan El-Achkar, Mohit Khera

Faculty, Staff and Students Publications

Congenital aromatase deficiency is an autosomal recessive CYP19A1 loss-of-function disorder that blocks conversion of androgens to estrogens. A man with homozygous CYP19A1 c.628G > A (exon 5) presented with longstanding fatigue, low libido, and desire to maintain fertility. Physiologic estrogen replacement was started with transdermal estradiol 0.0375 mg. After three months of estrogen therapy, the patient reported markedly improved energy and libido. Follow-up evaluation showed a rise in serum estradiol with normalization of gonadotropins, while maintaining spermatogenesis. This case illustrates the essential role of estrogen in male physiology, sexual function, and fertility. Estradiol replacement can alleviate hypoestrogenic symptoms with preservation of …

Ethical Use Of Artificial Intelligence For Clinical Vignettes, Henna Iqbal, Jennifer J. Park, Yelena Burklin

HCA Healthcare Journal of Medicine

The purpose of this report is to introduce a systematic process model for publishing clinical vignettes through vignette-based learning (VBL), with an emphasis on the ethical use of artificial intelligence (AI). We have provided a comprehensive walk-through outlining the process from initial case identification to the final dissemination of clinical vignettes, and we have highlighted how AI tools can support each step. This guide is intended to be especially beneficial for clinicians and early-career medical professionals aiming to develop and submit their cases for presentations, publications, and other avenues of knowledge sharing.

Predicting Epileptic Seizures From Eeg Signals Using Machine Learning, Hamzah Luqman, Galal M Binmakhashen, Hanan Alali, Marwa Alsleebi, Hamdi A. Al-Jamimi, Motaz Alfarraj, Shahid Bashir, Brent Hedgcock, Ali Mir, Raidah Albaradie

Neurosciences

Objective: To develop a machine learning-based model for predicting epileptic seizures by analyzing electroencephalogram (EEG) signals and classifying the interictal and preictal phases.

Methods: The EEG signals were analyzed in both the time and frequency domains using advanced feature extraction techniques. Three different machine learning approaches were employed, with special focus on long short-term memory (LSTM) networks. Features were extracted and classified to differentiate between seizure and non-seizure phases. The proposed models were evaluated using the publicly available CHB-MIT EEG dataset. The study was conducted between September 2022 and September 2024.

Results: Among the tested models, the LSTM-based approach using …

Epilepsy And Cluster C Personality Disorders: A Saudi Cross-Sectional Study, Mohammed A. Aljaffer, Ahmad H. Almadani, Ayedh H. Alghamdi, Mohammad N. Aljarba, Azzam A. Alotaibi, Mohammed A. Alorayyidh, Abdulaziz M. Alawwad, Rakan S. Alromayan, Faisal M. Alkhunein, Sohaila A. Alshimemeri, Bandar N. Aljafen

Neurosciences

Objective: Epilepsy is a neurological disorder with profound impacts on various aspects of life. It may lead to significant medical and psychiatric comorbidities, one of which is personality disorders (PDs). This study aims to assess the prevalence of Cluster C PDs among adult patients with epilepsy (PWE) at a tertiary care hospital in Riyadh, Saudi Arabia. Method: This cross-sectional study, conducted between January 2024 and April 2025, enroled 360 adult PWE using convenience sampling. The study tool included the Structured Clinical Interview for DSM Disorders criteria, along with additional demographic and epilepsy-related questions developed by the research team. Results: Cluster …

Vo: The Vaccine Ontology, Jie Zheng, Asiyah Yu Lin, Anthony Huffman, Anna Maria Masci, Rebecca Racz, Guanming Wu, Kallan Roan, Edison Ong, Sirarat Sarntivijai, Joy Hu, Eliyas Asfaw, Hayleigh Kahn, Xingxian Li, Xumeng Zhang, Joshua Monickaraj, Nilufer Kosar, Jianfu Li, Warren Manuel, Rashmie Abeysinghe, Hasin Rehana, Benu Bansal, Yuanyi Pan, Jinjing Guo, Virginia He, Justin Song, Andrey I Seleznev, Katelyn Hur, Anna He, Alexander Davydov, Qi Yang, Anna Ostropolets, Randi Vita, Bjoern Peters, Alan Ruttenberg, Alexander D Diehl, Charles Tapley Hoyt, Paola Roncaglia, Rachael P Huntley, Richard H Scheuermann, Melanie Courtot, Thomas Todd, Samantha Sayers, Fang Chen, Xinna Li, Feng-Yu Yeh, Zuoshuang Xiang, Arzucan Ozgur, Patricia L Whetzel, Mark A Musen, Christopher J Mungall, Wolfgang W Leitner, Licong Cui, Lesley A Colby, Harry L T Mobley, Brian D Athey, Gilbert S Omenn, Lindsay G Cowell, Cui Tao, Junguk Hur, Barry Smith, Yongqun He

Faculty, Staff and Student Publications

Vaccines are widely used in both research and clinical settings. To facilitate FAIR data practices, we urgently need to standardize vaccine representation, integrate information across diverse vaccine types, and support computer-assisted reasoning. Accordingly, we have since 2007 developed the community-based Vaccine Ontology (VO), which aligns with the Basic Formal Ontology and adheres to OBO Foundry principles. VO ontologically models vaccines, vaccine components, vaccine immune responses, vaccine investigation studies and other vaccine-related topics. VO represents more than 10,000 vaccines targeting 289 infectious pathogens and cancers in humans and over 30 nonhuman animal species. VO provides mappings to external resources such as …

Cyanosis-Associated Coagulopathy In Neonates Undergoing Cardiopulmonary Bypass: A Scoping Review, Lily Crickmar

Student Works

2. Structured summary:

A. Background: Patients with cyanotic congenital heart disease exhibit coagulation abnormalities related to chronic hypoxemia, which may increase the risk of bleeding and thrombosis, particularly during cardiopulmonary bypass.

B. Objective: This scoping review mapped the existing literature on coagulation disturbances and perioperative hemostatic outcomes in pediatric patients with cyanotic congenital heart disease.

C. Methods: 14 studies meeting the inclusion criteria were identified through structured database searching. The data were collected and synthesized descriptively due to heterogeneity in study design, patient populations, and coagulation assessment methods.

D. Results: Across studies, cyanotic patient physiology was associated with platelet dysfunction, …

Associations Of Regional White Matter Hyperintensities Severity With Different Visual Rating Scales And Domain-Specific Cognitive Impairment, Xiaolu Zheng, Sipei Pan, Yi Man, Zhenghao Shi

Neurosciences

Objective: To explore the association between regional white matter hyperintensities (WMHs) severity and domain-specific cognitive impairment.
Methods: We analyzed 95 WMHs patients retrospectively and evaluated cognitive function. We quantified regional WMHs severity using the Scheltens Rating Scale (SRS) and Cholinergic Pathways Hyper intensities Scale (CHIPS). According to the regional WMHs scores, we divided the patients for intergroup comparisons of WMHs severity with domain-specific cognitive scores via the nonparametric Wilcoxon rank-sum test.
Results: Neither the SRS nor the CHIPS total scores showed statistically correlation with cognitive scores (p > 0.05). However, in the bands lateral ventricles of periventricular hyperintensities …

Comparison Of Free-Hand Technique And Neuronavigation In Intraventricular Shunt Catheter Placement, Ümit Kocaman, Durmuş O Karakoyun, Emre Çavuşoğlu

Neurosciences

Objective: To compare the accuracy and clinical outcomes of proximal catheter placement using neuronavigation guidance versus the traditional free-hand technique in patients undergoing ventriculoperitoneal shunt (VPS) surgery. Methods: We performed a single-surgeon, before–after cohort study: free-hand cases (2013–2019) and neuronavigation cases (2020–2024). Ethics approval was obtained (İzmir Bakırçay University; Approval No. 2407; 20 Aug 2025). The primary endpoint was a composite of first-attempt ventricular entry and absence of postoperative day-1 (POD1) Grade-3 malposition. Secondary endpoints included grades, 12-month proximal tip dysfunction, and operative duration. Results: Fifty-two patients were included (neuronavigation N = 24; free-hand N = 28). Composite success was …

Science First, Formatting Second: Is It Feasible To Adopt A Free-Format Submission Policy?, Anas Alyazidi

Neurosciences

No abstract provided.