Digital Commons Network^™

Age And Sex Affect The Prevalence And Severity Of Periodontal Conditions In An Academic Setting, Karo Parsegian, Nikolaos Soldatos, Tonia C Carter, Nikola Angelov, Neel Shimpi, Krishna Kumar Kookal, David K Okano, Effie Ioannidou

Faculty, Staff and Student Publications

Background: The aim of the present study was to examine whether age and sex affected the prevalence and severity of periodontal conditions in patients attending an academic dental clinic.

Methods: Electronic health record (EHR) data on the demographic characteristics and periodontal conditions of patients presented for a comprehensive periodontal evaluation were extracted from the institutional dental EHR database. Retrospective analysis of independent associations of age, sex, and other subject characteristics with periodontal conditions was determined using multinomial logistic regression. The null hypothesis stating that age and sex were not associated with the increased prevalence and/or severity of periodontal conditions was …

Mitf Gain-Of-Function Mutation In Metastatic Prostate Cancer: A Rare Finding With Potential Therapeutic Significance, Paul J Pecorin, Nyembezi Dhliwayo, Matthew Demetrious, Ludimila Cavalcante, Veronica Rodriguez-Bravo, Josep Domingo-Domenech, Thomas Westbrook

Faculty, Staff and Students Publications

Background: Prostate cancer is the most common non-cutaneous malignancy in men and remains a leading cause of cancer-related mortality, particularly in aggressive variants. These tumors are usually associated with alterations in TP53, RB1, and PTEN. The microphthalmia-associated transcription factor (MITF) has been implicated in several malignancies, but its role in prostate cancer is less defined.

Case: We report the first case of metastatic prostate adenocarcinoma harboring a gain-of-function MITF E318K mutation. The patient presented with high tumor burden, rapid progression, and evidence of tumor heterogeneity. The E318K mutation, previously linked to melanoma and renal cell carcinoma, enhances MITF transcriptional activity …

Letter To The Editor Regarding “Questionable Indication For Postoperative Radiotherapy After Surgery For Metastases Of The Major Long Bones”: A Cautionary Note On Methodology And Analysis, Shing Fung Lee, Joel A Finkelstein, Peter J Hoskin, Dirk Rades, Eva Oldenburger, Tracy A Balboni, Daniel E Roos, Hans Kreder, Eric L Chang, Samuel Ryu, Amal Khoury, Kristopher Dennis, Candice Johnstone, Sara R Alcorn, Charles B Simone, Stephanie Brown, Jonas Willmann, Joanne M Van Der Velden, Mateusz Spałek, Yvette M Van Der Linden, Joanna Kazmierska, Nicolaus Andratschke, Emily J Martin, Michael Chao, Hany Soliman, Kenny Kwan, Raymond C H Yau, Shengji Yu, Zhenfeng Li, Albert Yee, Ningning Lu, Xinxin Zhang, Gavin P Jones, W L Chan, Adrian W Chan, Chung Ming Chan, Agata Rembielak, Gustavo N Marta, Vassilios Vassiliou, Saverio Caini, Edward Chow, Henry C Y Wong

Faculty, Staff and Students Publications

No abstract provided.

Matching-Adjusted Indirect Comparison Of Acoltremon Ophthalmic Solution 0.003% And Cyclosporine 0.05% Ophthalmic Emulsion For Increased Tear Production In Patients With Dry Eye Disease, Stephen Pflugfelder, Tony Okoro, Margaret Ainslie-Garcia, Anja Haltner, Emily K Prentiss, Elizabeth M Salvo-Halloran, Nikethana Srikanth, Michelle Senchyna, Esen K Akpek

Faculty, Staff and Students Publications

No abstract provided.

Prognostic Value Of Stress Perfusion Cardiac Magnetic Resonance Imaging In Kawasaki Disease With Coronary Artery Aneurysms: A 10-Year Retrospective Cohort Study, Alexander J Kiener, S Kristen Sexson Tejtel, Aimee Liou, Carolyn A Altman, Tam T Doan

Faculty, Staff and Students Publications

Background: Kawasaki disease (KD) with coronary artery aneurysms (CAA) places patients at risk for myocardial ischemia and major cardiac events (MCE). While stress perfusion cardiac magnetic resonance imaging (spCMR) is used for surveillance, its prognostic value has not been established.

Methods: We conducted a retrospective cohort study of KD patients (AHA risk levels 3-5) who underwent clinically indicated vasodilator spCMR at a tertiary pediatric center between October 2014 and December 2024. We evaluated inducible perfusion defects, late gadolinium enhancement (LGE), ventricular function, and MCE (myocardial infarction, ventricular dysfunction, arrhythmia, revascularization, transplant, or death). We performed Cox regression and Kaplan-Meier analyses …

Hospice Enrollments From The Emergency Department Feature Short Admissions And High-Acuity Hospice Care, Helen P Knight, Kourosh Ravvaz, Alexander Fiksdal, Lin Shen, Isaac S Chua, Claire K Ankuda, Haiden A Huskamp, Hojjat Salmasian, Joan M Teno, David W Bates

Faculty, Staff and Students Publications

Medicare beneficiaries frequently visit the emergency department (ED) at the end of life, but little is known about the epidemiology of patients admitted to hospice from the ED. We used 100 percent Medicare fee-for-service claims from the period 2018-20 to describe the frequency of direct ED-to-hospice enrollments, associated patient and hospice agency characteristics, and patient outcomes. In this sample, 4.3 percent of initial enrollments in hospice originated from the ED. ED-to-hospice admissions featured short lengths-of-stay (21.7 percent were two days or less) and high rates of general inpatient level of care at the time of enrollment (23.6 percent). The 10 …

Structural Determinants Of Ligand Response Specificity In The Mast Cell Activating Gpcr, Mrgprx2, Abiodun Adefola R Adeosun, Melina A Agosto, Olivier Lichtarge, Theodore G Wensel

Faculty, Staff and Students Publications

The mast cell-specific G-protein-coupled receptor (GPCR) MRGPRX2 (Mas-Related G Protein-coupled Receptor X2) has roles in itch and pain, and it mediates clinically relevant allergy-like responses to a diverse assortment of drugs. The varied responses of individuals to MRGPRX2 agonists, leading to drug hypersensitivity reactions in some cases, suggests the presence of consequential variants in the population. However, genetic associations with drug responses are poorly understood. We used heterologously-expressed MRGPRX2 to investigate the effect of 18 naturally occurring non-synonymous single nucleotide polymorphisms on activation by representative compounds from several classes, including neuropeptides, opioid agonists, antibiotics, neuromuscular blocking agents, and polycationic aromatic …

Disease-Specific Growth Charts Capture Characteristic Growth Patterns In Children With Pmm2 – Cdg, Kyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, Andrea Miller, Rodrigo T Starosta, Aziza Zeighami, Seishu Horikoshi, Hayden Vreugdenhil, Fernando Scaglia, Tamas Kozicz, Queenie K G Tan, Bradley S Miller, Iván Martínez-Duncker, Gerard T Berry, Peter Mcwilliams, Eva Morava, Yaw Addo

Faculty, Staff and Students Publications

Background: Growth faltering is prevalent in 96% of children with Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). Published long-term growth data is extremely limited. Growth and weight patterns of PMM2-CDG children differ from the general population limiting the utility of existing normative growth charts to track development trajectory in comparison to peers with PMM2-CDG.

Objective: Create PMM2-CDG disease-specific height-, weight-, and BMI-for-age reference growth charts (0-20 years).

Methods: De-identified growth data was provided by Frontiers in Congenital Disorders of Glycosylation Consortium, CDG Care, Minnesota Partnership for Biotechnology and Medical Genomics, and Glycomine, Inc. Semi-parametric modeling techniques were used to develop PMM2-CDG-specific …

Hematologic Markers And Machine Learning In Predicting Placenta Accreta: A Case-Control Study, Michael D Jochum, Kelly D Albrecht, Yamely Mendez Martinez, Victoria Zhang, Sanmay Sarada, Brian Burnett, Christina C Reed, Karin A Fox, Amir A Shamshirsaz, Michael A Belfort, Jessian L Munoz, Hennie A Lombaard

Faculty, Staff and Students Publications

Objective: This study aims to enhance antenatal detection of placenta accreta spectrum (PAS) and predict severe hemorrhage at delivery using machine learning by evaluating the association between antenatal hematologic index trends across trimesters, imaging markers, and patient history.

Methods: We retrospectively analyzed 2017-2023 data from a PAS referral center, including demographics, laboratory results, ultrasounds, and outcomes. Patients with confirmed PAS (cases) were compared to those with antenatal risk but no histopathologic evidence of PAS (controls). Statistical analyses and machine learning models were developed to predict PAS. We also used machine learning to predict severe hemorrhage (>1500 mL) in the …

Fetal Instability And Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis Of 245 Fetal Cardiac And Spina Bifida Procedures, Claire A Naus, Betul Yilmaz Furtun, Jessian L Munoz, Rebecca M Johnson, Carolyn A Altman, Michael A Belfort, Luc Joyeux, Alice King, David G Mann, Shaine Morris, Athar M Qureshi, Magdalena Sanz Cortes, William E Whitehead, Caitlin D Sutton

Faculty, Staff and Students Publications

Objective: The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management.

Methods: We reviewed all fetal atrial septal interventions (FASI) and fetoscopic myelomeningocele (fMMC) repairs with fetal instability performed at our institution between March 2012 and April 2025. We described and compared the frequency, timing, etiology, and management of fetal instability.

Results: During the study period, 28 unique patients underwent 35 FASI procedures, and 210 patients underwent fMMC repair. Fetal instability occurred in 51 of 245 cases (20.8%), with rates varying significantly by procedure type …

A Trans-Omics Gene-Smoking Interaction Study Of Lung Cancer Based On Consortium Data, Ning Xie, Xiaowen Xu, Yanru Wang, Aoxuan Wang, Xiang Wang, Xuan Wang, Mengsheng Zhao, Jiacheng Zhou, Yongyue Wei, Manel Esteller, Zhibin Hu, Hongbing Shen, Rayjean J Hung, Christopher I Amos, Yi Li, David C Christiani, Feng Chen, Yang Zhao, Ruyang Zhang

Faculty, Staff and Students Publications

Rationale: Genetically predicted molecular traits provide a cost-effective approach for identifying biomarkers and uncovering underlying biological mechanisms. We extended this framework to investigate gene-smoking interactions in lung cancer susceptibility.

Objectives: To identify trans-omics gene-smoking interactions affecting lung cancer risk and to assess how biomarkers modify effect of smoking.

Methods: We conducted the first trans-omics gene-smoking interaction study of lung cancer by integrating consortium-scale individual genotype data (27 737 cases vs 449 910 noncases) from the International Lung Cancer OncoArray Consortium (ILCCO-OncoArray), Transdisciplinary Research Into Cancer of the Lung (TRICL), Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO), and the …

Barrett’S Esophagus-Associated Genetic Loci In African Americans: A Case-Control Study Using The All Of Us Research Program, Ashwin Rao, Jinyoung Byun, Aaron P Thrift, Hashem B El-Serag

Faculty, Staff and Students Publications

Background and aims: Barrett's esophagus is the only known precursor lesion to esophageal adenocarcinoma (EAC). Barrett's esophagus and EAC are less common in African Americans than in non-Hispanic Whites. Studies in European populations have identified Barrett's esophagus-associated risk loci; however, none have examined loci in African Americans cohorts. We conducted a case-control targeted replication study to investigate previously identified Barrett's esophagus risk loci in an African Americans cohort in the All of Us (AoU) Research Program.

Methods: We abstracted phenomic and genomic data from 108 African Americans with Barrett's esophagus and 778 African Americans controls in the AoU database. We …

Use Of Plozasiran Across A Spectrum Of Hypertriglyceridemia: Long-Term Efficacy And Safety Data From The Open-Label Extension Period Of Shasta-2 And Muir Trials, Christie M Ballantyne, Alexis Baass, Robert S Rosenson, Robert A Hegele, Stephen J Nicholls, Szilard Vasas, Peter Clifton, Kathryn J Lucas, Denes Pall, Rong Zhou, Nicholas J Leeper, Jennifer Hellawell, Lalitha Aiyer, Gerald F Watts, Daniel Gaudet

Faculty, Staff and Students Publications

Background: Plozasiran, a hepatocyte-targeted siRNA against apolipoprotein C-III, has demonstrated substantial reductions in triglycerides (TGs) and related atherogenic lipoproteins across a spectrum of hypertriglyceridemia (HTG), leading to its approval for familial chylomicronemia syndrome in the United States, and subsequently in Canada and China. Long-term data suggest maintenance of these effects beyond the blinded treatment periods, supporting further evaluation of plozasiran across a broad spectrum of HTG.

Methods: Safety and efficacy were assessed in this open-label extension (OLE) of two phase 2b, randomized, double-blind trials, SHASTA-2 (n = 229) including patients with severe HTG (TG >500 mg/dL) and MUIR ( …

The Soft Cluster Score As A Multifaceted Predictive Model For Postoperative Outcomes, Gwendolyn B Henry, Spoorthi Kamepalli, Carter J Burns, Jeremy Birkmire, George Cholankeril, Avegail Flores, John A Goss, Abbas Rana

Faculty, Staff and Students Publications

Background: Consideration of both donor and recipient factors at the time of an organ offer is crucial in achieving the most optimal outcome given the shortage of available donor organs and waitlist mortality risk. Our aim was to achieve a comprehensive risk assessment for liver transplant patients by creating a series of independent risk index equations for 6 distinct posttransplant endpoints in the transplant continuum of care.

Methods: The Survival Outcomes Following Liver Transplantation (SOFT) Cluster score includes risk indices for patient mortality at 90 d, 1 y, 3 y, and 5 y posttransplant, graft failure at 1 y after …

Spatial Transcriptomics Reveals Coordinated Endothelial And Epithelial Activator Protein-1 Activation In Chronic Lung Allograft Dysfunction, Yasufumi Goda, Tatsuhiko Naito, Mudassir M Banday, Andrew S Potter, Igor Odintsov, Kapil Patel, Nicole Davis, Stefi Lee, Amit Gaggar, Ivan Rosas, Gabriel Loor, Don Hayes, Nirmal S Sharma

Faculty, Staff and Students Publications

Chronic lung allograft dysfunction (CLAD) limits long-term lung graft survival, yet its specific gene expression profiles remain unclear. We performed comprehensive spatial transcriptomic analyses of human lungs from CLAD patients, non-CLAD transplant recipients, and non-transplanted controls. In CLAD, AP-1 target genes, including JUNB and FOS, were significantly upregulated in both the epithelium and endothelium, whereas anti-fibrotic genes such as A2M and surfactant proteins (SFTPA1,2) were upregulated in non-CLAD. The lymphocyte population in CLAD was predominantly composed of T cells, with elevated JAK3-IL7R signaling. TNF and IL-17 signaling pathways were commonly activated in both the epithelium and endothelium, with JUNB and …

Assessment Of Knee Laxity After Retrograde Intramedullary Nailing For Periprosthetic Distal Femur Fractures: A Cadaveric Study., Joshua P Rainey, Lucas A Anderson, Ian M Duensing, Jeremy M Gililland, Patrick J Kellam

Faculty, Staff and Student Publications

Objectives: Periprosthetic distal femur fractures have grown in volume because the rate of primary total knee arthroplasty (TKA) has increased. These injuries are increasingly treated with intramedullary nailing (IMN), but knee instability after retrograde IMN has not been well studied. A cadaveric study was performed to investigate TKA balance after retrograde femoral IMN. The main hypothesis was that retrograde femoral IMN preparation would lead to increased flexion space laxity.

Methods: A medial parapatellar approach and measured resection TKA technique were performed in 8 cadaveric knees. A tensioner was used to measure the flexion and extension spaces in millimeters and the …

Anti-Egfr Liposomal Drug Delivery System Loaded With Agy2 Potentiates The Anti-Cancer Effect Of Agy2 Against Egfr Expressed Pancreatic Cancer, Raviteja Bulusu, Esther Frimpong, Joy Okoro, Sunil Krishnan, Saunjoo Yoon, Bo Han, Xue Zhu, Edward Agyare

Faculty, Staff and Student Publications

Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal malignancies worldwide due to late diagnosis, dense stromal barriers, and resistance to existing chemotherapeutics. To address these limitations, we developed a targeted liposomal delivery system that encapsulates AGY2, a newly synthesized, more potent fluoro pyrimidine nucleoside analog. In this study, epidermal growth factor receptor (EGFR) functionalized liposomal nanoparticles (EGFR-AGY2 LNPs) were optimized using Box–Behnken Design to achieve superior physicochemical stability. The optimized formulation demonstrated nanoscale dimensions (∼121 nm), high entrapment efficiency (∼75%), and strong colloidal stability. Surface antibody conjugation was confirmed by Fourier Transform Infrared Analysis (FTIR) and immunofluorescence analysis, …

Ldm-Morph: Latent Diffusion Model Guided Deformable Image Registration, Jiong Wu, Tinsu Pan, Kuang Gong

Faculty, Staff and Student Publications

Deformable image registration plays an essential role in various medical image tasks. Existing deep learning-based deformable registration frameworks primarily utilize convolutional neural networks (CNNs) or Transformers to learn features to predict the deformations. However, the lack of semantic information in the learned features limits the registration performance. Furthermore, the similarity metric of the loss function is often evaluated only in the pixel space, which ignores the matching of high-level anatomical features and can lead to deformation folding. To address these issues, in this work, we proposed LDM-Morph, an unsupervised deformable registration algorithm for medical image registration. LDM-Morph integrated features extracted …

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

Consciousness is a fundamental component of cognition1, but the degree to which higher-order pattern recognition relies on it remains disputed2,3. Here we demonstrate the persistence of oddball discrimination, semantic processing and online prediction in individuals under general-anaesthesia-induced loss of consciousness4,5. Using high-density Neuropixels microelectrodes6 to record both single-unit and local-field-potential neural activity in the human hippocampus while playing a series of tones to anaesthetized patients, we found that hippocampal neurons and local oscillations retained some detection of oddball tones. This effect size grew over the course of the experiment …

Association Of Infection Frequency And Incident Clonal Hematopoiesis Of Indeterminant Potential, Ajibike Lapite, Vernon A Burk, James Decuir, Junichi Ishigami, Seyedmohammad Saadatagah, Pradeep Natarajan, Christie M Ballantyne, Elizabeth A Platz, Katherine Y King

Faculty, Staff and Students Publications

Clonal hematopoiesis of indeterminant potential (CHIP) is an age-related phenomenon associated with increased risk of hematologic malignancy. Preclinical studies have shown that infection is a driver of CHIP; clinical studies in people living with HIV suggest a relationship between chronic infection and CHIP, but the association between infection frequency and incident CHIP in the general population remains unknown. We leveraged the atherosclerosis risk in communities study to design a closed prospective cohort study. CHIP was determined based on whole-exome sequencing at 2 time points 20 years apart. Included were 3,367 individuals without cancer or CHIP at time 1 and without …

An Obligatory Role For Agrp Neurons In Maintaining Body Temperature During Time-Restricted Feeding, Cunjin Su, Jing Cai, Yuanzhong Xu, Benjamin R Arenkiel, Qingchun Tong

The Brown Foundation: Institute of Molecular Medicine

Homeotherms maintain a steady body temperature through thermoregulation, a process critical for survival during fasting, in which the brain has to defend energy-costly body temperature while reducing energy expenditure to conserve energy reserve; however, the neural basis for defending body temperature remains unclear. Here, we demonstrated that AgRP neuron lesion led to lethality during time-restricted feeding on chow but not on HFD, and caused no obvious impact on HFD-induced obesity or obesity-reducing responses to glucagon-like peptide-1 receptor agonism. The lesion disrupted adaptive feeding behaviors during time-restricted feeding and reduced motivational feeding on chow. Notably, the lethality was caused by hypothermia …

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy And Phenotypic Expansions, Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, Seema R Lalani, Daryl A Scott

Faculty, Staff and Students Publications

Dandy-Walker malformation (DWM) is a rare congenital abnormality of the posterior fossa and the cerebellum and has an incidence of 1 in 10 000 to 30 000 births. Although DWM can present in isolation, it is often associated with other central nervous system (CNS) abnormalities or extra-CNS anomalies (DWM+). A molecular cause is not identified in the majority of individuals with DWM+. This is due, in part, to uncertainty regarding optimal testing strategies and an incomplete understanding of the genetic causes of DWM+. In this study, we analyzed clinical exome sequencing (cES) data from 91 individuals with DWM+ to determine …

Systemic And Metabolic Control Of Liver Regeneration, Lingzhi Hong, Alessandro Di Federico, Bolun Liu, Alissa J Cooper, Joao V Alessi, Phoebe Clark, Waree Rinsurongkawong, Chingyi Young, Hui Li, Kang Qin, Muhammad Aminu, Valentina Santo, Yasir Elamin, Boris Sepesi, Jeff Lewis, Don L Gibbons, Ara A Vaporciyan, J Jack Lee, Xiuning Le, Jia Wu, Sinchita Roy-Chowdhuri, Mark J Routbort, P Andrew Futreal, John V Heymach, Mark M Awad, Adam J Schoenfeld, Jianjun Zhang, Biagio Ricciuti, Lei Deng, Natalie I Vokes

Faculty, Staff and Student Publications

The liver possesses a unique regenerative capacity, driven by mechanisms that extend beyond classical growth factor signaling. Recent studies underscore the importance of metabolic reprogramming, mitochondrial adaptation, and signaling metabolites in promoting tissue injury repair. Dynamic crosstalk between hepatocytes, non-parenchymal cells, and other organs governs the regenerative process. Spatial compartmentalization within the liver and systemic cues from adipose tissue, the pancreas, the gut, the brain, skeletal muscle, and other organs play critical roles in shaping regenerative outcomes. In this review we discuss how the liver's tissue microenvironment and inter-organ communication networks regulate liver regeneration, providing new insights into the complex …

Genetic Testing For Familial Epilepsies: Diagnostic Yield And Genetic Findings, Colin A Ellis, Juliette Copeland, Isabella Velez, Karen L Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle Decampo, Holly Dubbs, Natalie Ginn, Alicia G Harrison, Naomi Lewin, Laina Lusk, Eric D Marsh, Shavonne L Massey, Pamela Pojomovsky Mcdonnell, Jillian L Mckee, Xilma Ortiz-Gonzalez, Anna J Prentice, Katie Rose Sullivan, Sarah M Ruggiero, Mark P Fitzgerald, Ethan M Goldberg, Ingo Helbig

Faculty, Staff and Students Publications

Objective: Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.

Methods: This was a retrospective cohort study of genetic testing performed at pediatric and adult epilepsy genetics clinics. Eligible patients (probands) had epilepsy and one or more first-degree relatives or two or more other relatives with epilepsy. Genetic testing strategies were patient specific, reflecting real-world clinical practice. Familial patterns were classified based on affected relatives of the proband. Diagnostic variants were tested …

Functional Genomics Studies Of Psychiatric Disorders In Individuals Of Latin American Populations: A Scoping Review, Luz M Porras, Isabelle Rodríguez-Lausell, Gabriel Iglesias-Maldonado, Emily Val F Tuliao, Gabriela Martínez, Chelsey Leveque, Julian Tobon, Rachel Eloy, Sintia Belangero, Cynthia M Bulik, Camila M Loureiro, Carolina Muniz Carvalho, Vanessa Ota, Diego Luiz Rovaris, Eric A Storch, Eva Maria Trujillo-Chi Vacuan, Maria M Velasquez, Latin American Genomics Consortium, Marcos L Santoro, Humberto Nicolini, Elizabeth G Atkinson, Janitza L Montalvo-Ortiz, Paola Giusti-Rodríguez

Faculty, Staff and Students Publications

Over the past 15 years, genetic studies of psychiatric disorders have provided important insight into the contribution of both common variants of small effect, as well as rare exonic and copy number variants with large effect sizes. Genome-wide association studies (GWAS) allow us to understand the intricate polygenicity characteristic of many psychiatric disorders. However, a considerable proportion of single nucleotide polymorphisms (SNPs) implicated in these disorders localize to the non-coding regions of the genome. Unraveling the molecular mechanisms that underlie the etiology of psychiatric illnesses requires integration using functional genomics approaches. Functional genomics methods are critical for developing a mechanistic …

Anterior Cutaneous Nerve Entrapment Syndrome From Glucagon-Like Peptide-1 Receptor Agonist Injection, Neha Singh, Elisa Chaparro, Jordan Michael Shapiro, Emanuel Narcis Husu

Faculty, Staff and Students Publications

Anterior cutaneous nerve entrapment syndrome (ACNES) is an underdiagnosed cause of abdominal pain. We report the first documented ACNES case following subcutaneous administration of glucagon-like peptide-1 receptor agonist. A 44-year-old man developed focal, neuropathic abdominal pain coinciding with initiation of tirzepatide injections. Clinical examination confirmed ACNES diagnosis, and pain improved after relocating injections away from the abdomen and initiating multimodal pharmacotherapy. This case emphasizes the need to consider ACNES in patients endorsing focal abdominal pain with concurrent use of glucagon-like peptide-1 therapy and highlights injection site modification as a simple, effective management strategy while exercising self-restraint with respect to workup.

Perinatal Mental Health Screening And Care Among Those With Pregnancy Complications, Alison N Goulding, Terri L Fletcher, Emily S Miller

Faculty, Staff and Students Publications

Perinatal mental health conditions are common and, without effective treatment, can contribute to adverse maternal and child outcomes. In the United States, mental health conditions are a leading cause of maternal morbidity and mortality, contributing to over 20% of pregnancy-related deaths. This expert review aims to assess current literature and provide recommendations regarding mental health care in high-risk patients who experience pregnancy complications. Individuals experiencing pregnancy complications are at increased risk for perinatal mental health conditions, including depression, anxiety, and post-traumatic stress disorder, as compared to those with uncomplicated pregnancies. Despite this increased disease burden, there is limited research on …

Rethinking Flow: The Paradox Of Renoprotection Without Increased Renal Blood Flow In Cardiopulmonary Bypass, Shiksha Mohan, Ronald A Shaju, Sharan Misra, Titiksha Sharma, Veeraj K Sirivolu, Abhinav Rajkumar, Anthony Rodas-Camacho, Aizah Zaidi, Dhruv Dhingra, Ilma Khan, Rishav Bhattacharya, Vishal Pancholy, Shivam Banerjee, Shreyo Ghosh, Shiyi Li, Kenneth K Liao, Carl P Walther, Nandan K Mondal

Faculty, Staff and Students Publications

No abstract provided.

Choline Counteracts Pregnancy Undernutrition-Associated Colitis In Sheep By Restoring Microbiota Driven Bile Acid Metabolism, Weibin Wu, Peng Jiao, Yamei Gu, Huizhen Lu, Caiyun Fan, Zheng Sun, Lizhuang Hao, Shengyong Mao, Jianbo Cheng, Yanfeng Xue

Faculty, Staff and Students Publications

High-fertility sheep experience undernutrition during late gestation, which induces body metabolic disruption and intestinal inflammation. Crucially, the gut microbiota-bile acid axis is a promising intestinal inflammation target, but how choline modulates this axis in livestock enteritis is unknown. This study investigated choline's protective mechanisms against undernutrition-induced intestinal inflammation in sheep, focusing on gut microbiota and bile acid regulation. Choline consistently alleviates colitis severity, restores epithelial barrier integrity, and suppresses intestinal inflammation. These protective effects are accompanied by pronounced remodeling of the colonic microbial ecosystem, characterized by the enrichment of Clostridiales bacterium to elevate bile salt hydrolase activity and regulate bile …

Rural-Urban Differences In Hypertension Prevalence And Control In A Large Regional Health System Cohort, Yordanos M Tiruneh, Susan Mcbride, Huaxin Song, Matthew Decaro, Alaa Rihan, Theresa Byrd, Alex Baham, Jared W Magnani, Elmer V Bernstam, Jarett D Berry

Faculty, Staff and Student Publications

Background: Rural US populations bear a high burden of cardiovascular disease, with hypertension contributing to the rural-urban gap. We examined hypertension prevalence and control across the rural-urban continuum among patients in a large healthcare system in Northeast Texas.

Methods: We analyzed the electronic health record data from 363,539 patients with at least one outpatient encounter between September 2021 and April 2025. We defined hypertension using ICD-10-CM codes, antihypertensive prescriptions, or a blood pressure ≥ 130/80 mm Hg. We classified rurality using the Rural-Urban Commuting Area categories. Multivariable logistic regression models were adjusted for age, sex, race, ethnicity, insurance, and level …