Digital Commons Network^™

Double-Crispr Knockout Simulation (Dkosim): A Monte-Carlo Randomization System To Model Cell Growth Behavior And Infer The Optimal Library Design For Growth-Based Double Knockout Screens, Yue Gu, Traver Hart, Luis Leon-Novelo, John Paul Shen

Faculty, Staff and Student Publications

Advances in functional genomic technology, notably CRISPR using Cas9 or Cas12, now allow for large-scale double perturbation screens in which pairs of genes are inactivated, allowing for the experimental detection of genetic interactions (GIs). However, as it is not possible to validate GIs in high-throughput, there is no gold standard dataset where true interactions are known. Hence, we constructed a Double-CRISPR Knockout Simulation (DKOsim), which allows users to reproducibly generate synthetic simulation data where the single gene fitness effect of each gene and the interaction of each gene pair can be specified by the investigator. We adapted Monte-Carlo randomization methods …

Continuous Versus Bolus Norepinephrine Administration To Treat Hypotension After Induction Of General Anaesthesia In Low-To-Moderate Risk Noncardiac Surgery Patients: A Randomised Trial, Kristen K Thomsen, Finn Külls, Christina Vokuhl, Linda Krause, Dominik Müller, Max Bossemeyer, Mirja Wegge, Alina Kröker, Alina Bergholz, Christian Zöllner, Daniel I Sessler, Bernd Saugel

Faculty, Staff and Student Publications

Background: Hypotension after induction of general anaesthesia (postinduction hypotension) is common in patients undergoing noncardiac surgery and frequently requires treatment with vasopressors such as norepinephrine. We tested the hypothesis that giving norepinephrine continuously using a syringe infusion pump, compared with giving it as repeated manual boluses, reduces postinduction hypotension within 15 min after starting induction of general anaesthesia in low-to-moderate risk noncardiac surgery patients.

Methods: Patients undergoing elective noncardiac surgery were randomised to either continuous norepinephrine infusion or manual bolus norepinephrine administration intravenously during induction of general anaesthesia. In both groups, norepinephrine was administered through a peripheral venous catheter. Blood …

Fatigue Survival And Biomechanical Behavior Of Two-Piece Titanium And Zirconia Dental Implants, Jefferson David Melo De Matos, Guilherme Da Rocha Scalzer Lopes, Nathália De Carvalho Ramos, Mário Alexandre Coelho Sinhoreti, Alexandre Luiz Souto Borges, Daher Antonio Queiroz, Marco Antonio Bottino

Faculty, Staff and Student Publications

Background: Titanium implants are considered the gold standard for oral rehabilitation; however, zirconia implants have emerged as a metal-free alternative with promising esthetic and biological properties. Despite these advantages, limited evidence is available regarding their long-term fatigue behavior and fracture resistance.

Material and methods: In this in vitro experimental study conducted at São Paulo State University (UNESP), Brazil, forty implants were divided into two groups (n = 20): zirconia implants (ZZ) and titanium implants (TZ) (4.1 × 10 mm). Implants were embedded in polyurethane blocks according to ISO 14801:2016 specifications. Monolithic zirconia crowns were fabricated using CAD/CAM technology and cemented …

Multiparametric Mri To Predict Response To Irreversible Electroporation Plus Anti-Pd-1 Immunotherapy In Pancreatic Ductal Adenocarcinoma, Qizhen Cao, Mark D Pagel, Charles V Kingsley, Jingfei Ma, James P Long, Xiaoxia Wen, Seth T Gammon, Jorge Delacerda, Sanaz Javadi, Chun Li

Faculty, Staff and Student Publications

Purpose: To investigate contrast-enhanced T1-weighted MRI and diffusion-weighted magnetic resonance imaging (DWI) for early prediction of tumor response to combined irreversible electroporation (IRE) and anti-PD-1 immunotherapy.

Methods: Murine pancreatic ductal adenocarcinoma (PDAC) cells KRAS* were inoculated into the pancreas of C57BL/6 mice. IRE was performed when tumors became palpable. After IRE, mice received six intraperitoneal injections of anti-PD-1 over 2 weeks. T2-weighted MRI, T1-weighted MRI with macromolecular contrast agent poly(L-glutamic acid)-conjugated gadolinium (PG-Gd), and DWI were performed before and after IRE. Survival was analyzed using Kaplan-Meier curves. Mice surviving at least 100 days without recurrence after IRE were considered complete …

Gompertz Growth With A Shared Carrying Capacity Optimally Simulates Primary And Metastatic Tumor Growth Dynamics, Pirmin Schlicke, Preethi Korangath, Xiaoxi Pan, Caner Ercan, Kathleen Gabrielson, Lyndsey Werhane, Yinyin Yuan, Sébastien Benzekry, Robert Ivkov, Heiko Enderling

Faculty, Staff and Student Publications

Background: Cancer is a systemic disease with most deaths attributed to metastatic burden. Primary and metastatic tumors, albeit at different anatomic locations, are interconnected through multiple biological processes. Pre-clinical and clinical observations of growth acceleration of metastases after surgery, or abscopal effects outside the radiation field are widely reported, yet reliably triggering favorable and avoiding unfavorable systemic responses remains an unmet clinical need. Understanding local and systemic tumor interaction dynamics will help guide future treatments.

Methods: We analyze the data of multiple in vivo tumor models. We formalize the systemic interplay of tumors as mathematical differential equation and calibrate parameters …

Structural-Functional Analyses Of The Huntingtin/Hap40 Complex In Drosophila And Humans, Stephen M Farmer, Amanda Solbach, Shiyu Xu, Beatriz Rios, Xin Ye, Amy Gao, Daniela Covarrubias, Yue Yu, Lili Ye, Vicky Chuong, Erin Furr Stimming, Haiqing Zhao, Sheng Zhang

Faculty, Staff and Student Publications

Huntington's disease (HD) is a neurodegenerative disorder caused by an abnormal CAG expansion in the Huntingtin (HTT) gene. Given its simple genetic cause but complex pathogenic mechanisms, interest in targeting HTT for HD treatment is growing, necessitating a clear understanding of HTT regulation. HTT protein primarily exists in a core complex with HAP40, forming a highly ordered structure with two large globular domains connected by a bridge. We previously demonstrated that HAP40 is conserved in

A Topic Modeling Analysis Of Stigma Dimensions, Social, And Related Behavioral Circumstances In Clinical Notes Among Patients With Hiv, Ziyi Chen, Yiyang Liu, Mattia Prosperi, Krishna Vaddiparti, Robert L Cook, Jiang Bian, Yi Guo, Yonghui Wu

Faculty, Staff and Student Publications

Objective: To characterize stigma dimensions, social, and related behavioral circumstances in people living with HIV (PLWHs) seeking care, using natural language processing methods applied to a large collection of electronic health record (EHR) clinical notes from a large integrated health system in the southeast United States.

Methods: We identified a cohort of PLWHs from the University of Florida (UF) Health Integrated Data Repository and performed topic modeling analysis using Latent Dirichlet Allocation (LDA) to uncover stigma-related dimensions and related social and behavioral contexts. Domain experts created a seed list of HIV-related stigma keywords, then applied a snowball strategy to iteratively …

Feasibility Of Identifying Factors Related To Alzheimer’S Disease And Related Dementia In Real-World Data, Yu Huang, Qian Li, Aokun Chen, Yongqiu Li, Yu-Neng Chuang, Xia Hu, Serena Jingchuan Guo, Xing He, Yijiang Pang, Jiayu Zhou, Yonghui Wu, Yi Guo, Jiang Bian

Faculty, Staff and Student Publications

Objective: This study aimed to provide a comprehensive understanding of factors associated with Alzheimer's disease (AD) and AD-related dementias (AD/ADRD), which could aid in studies to develop new treatments for AD/ADRD patients and identify high-risk populations for prevention.

Scope and method: In our study, we summarized the risk factors for AD/ADRD by reviewing existing meta-analyses and review articles on risk and preventive factors for AD/ADRD. From this literature review and the identified AD/ADRD factors, we examined the accessibility of these risk and preventive factors in both structured and unstructured Electronic Health Records (EHRs) data.

Results: In total, we extracted 401 …

Unraveling The Nexus: Tumor Mutational Burden, Pd-L1 Expression, And Oncogenic Alterations In Non-Small Cell Lung Cancer Cytology Specimens, Min Dai, Francis Anthony San Lucas, Hector Alvarez, Leomar Ballester, Hui Chen, Keyur P Patel, Asif Rashid, Shun Rao, Mark J Routbort, Gloria Sura, Keith Sweeney, Gokce Toruner, Peng Wei, Richard Yang, Hyvan Dang, Rajyalakshmi Luthra, Sinchita Roy-Chowdhuri

Faculty, Staff and Student Publications

Background: PD-L1 expression and tumor mutational burden (TMB) are biomarkers for immune checkpoint inhibitor (ICI) therapy in non-small cell lung cancer (NSCLC); however, patients harboring oncogenic alterations have limited benefit from ICIs. The impact of oncogenic alterations on TMB and PD-L1 tumor proportion score in lung cytology specimens is poorly understood. Herein, the association between oncogenic alterations, TMB, and PD-L1 in NSCLC cytology specimens is explored.

Methods: Next-generation sequencing results from 312 NSCLC cytology specimens were retrospectively reviewed that interrogate 610 genes and select immuno-oncology signatures. TMB and PD-L1 immunohistochemical expression across oncogenic alterations were analyzed to explore associations.

Results: …

Baseline Parp-1 Pet Imaging In Patients With Advanced Solid Tumors With Dna Damage Response Mutations, Tarek Daoud, Jiansong Chen, Peng Wei, Franklin Wong, Timothy A Yap, Lilie L Lin

Faculty, Staff and Student Publications

Purpose: Inhibitors of poly(ADP-ribose) polymerase (PARP), an enzyme with numerous roles in DNA damage response signaling, represent a class of anti-cancer drugs approved for treating solid tumors with defects in the DNA damage response. However, additional methods for identifying patients who would benefit from the use of PARP inhibitors are urgently needed. We evaluated a novel radiotracer, 18F-FluorThanatrace ([18F]-FTT), to noninvasively assess PARP activity with PET/CT before treatment and determine associations between uptake, tumor mutation status, and prior receipt of therapy including PARP inhibitors.

Methods: Fifty-two patients with solid tumors underwent whole-body (skull base to thigh) [18F]-FTT PET/CT scans before …

Tumor Flare Reaction With Brentuximab-Vedotin In Mycosis Fungoides, Rishabh Lohray, Seda Purnak, Samruddhi Arkatkar, Madeleine Duvic, Victor Prieto, Carlos Torres-Cabala, Auris Huen

Faculty, Staff and Student Publications

No abstract provided.

Identifying Sorafenib Benefit Among Patients With Hepatocellular Carcinoma: A Transcriptomic And Genomic Approach, Sun Young Yim, Hayeon Kim, Tae Hyung Kim, Sang-Hee Kang, Youngwoo Lee, Eunho Choi, Yang Jae Yoo, Seong Hee Kang, Young-Sun Lee, Young Kul Jung, Yeon Seok Seo, Hyung Joon Yim, Jong Eun Yeon, Kyung Suk Yang, Yitao Tang, Bowha Sohn, Yun Seong Jeong, Hyewon Park, Han Liang, Ju-Seog Lee, Ji Hoon Kim

Faculty, Staff and Student Publications

Background & aims: Sorafenib has been a cornerstone of hepatocellular carcinoma (HCC) therapy; however, its efficacy is limited, and identifying patients who will benefit from sorafenib is challenging. We aimed to identify predictive biomarkers of sorafenib benefit in patients with HCC.

Methods: Gene expression data from 33 HCC tumors treated with sorafenib were analyzed to construct a prediction model aimed at identifying patients with greater benefit from sorafenib treatment. The robustness of the predictor was validated using gene expression data from two phase III clinical trials, IMbrave150 and STORM.

Results: The analysis of transcriptome data revealed a 50-gene signature, the …

Bridging Gaps: Enhancing Sleep And Health Disparities In Latino Families With Young Adults With Autism Using A Culturally Adapted Intervention, Antonio F Pagán, Alejandro L Pagán, Linda Hernandez, Matthew R Cribbet, Katherine A Loveland, Ron Acierno

Faculty, Staff and Student Publications

The present study examined the effects of a culturally adapted intervention, ¡Iniciando! la Adultez, on sleep and health-related quality of life (HRQoL) in Latino young adults with autism spectrum disorder (ASD) and their Spanish-speaking parents. The intervention targeted the transition to adulthood, a period associated with increased challenges in sleep and HRQoL, particularly for underserved Latino populations. Participants included 26 young adults and 38 parents who completed assessments at baseline and post-treatment. The results indicated significant improvements in several HRQoL domains for both groups, with young adults reporting enhanced emotional well-being, social functioning, and general health. Parents experienced notable improvements …

Preoperative First-Line Amlodipine In Phaeochromocytoma/Paraganglioma: Perioperative Haemodynamic Instability And Its Predictors, Chandramouli L, Saba Samad Memon, Anurag Ranjan Lila, Manjiri Karlekar, Aditya Phadte, Vijaya Sarathi, Rohit Barnabas, Sailaja Pramod Bijani, Sameer Rege, Yogesh Prabhakar Takalkar, Amala Kudalkar, Aarti Kulkarni, Nalini Shah, Tushar R Bandgar

Faculty, Staff and Student Publications

Objectives: Preoperative alpha blockade is recommended for phaeochromocytomas and paragangliomas (PPGLs), whereas evidence for calcium channel blockers remains limited. This study evaluated perioperative haemodynamic outcomes with first-line amlodipine for preoperative blockade and identified predictors of intraoperative haemodynamic instability (iHDI).

Methods/design: In this monocentric retrospective study, 35 operated PPGL patients who received preoperative first-line amlodipine (July 2021-March 2024) were analysed. Continuous intraoperative arterial pressure recordings were analysed for episodes and duration of hypertension, hypotension, and iHDI. Biochemical phenotype and tumour characteristics were assessed as predictors.

Results: The cohort (median age: 32 years; 60% female) included 32 phaeochromocytomas and 3 sympathetic paragangliomas. …

Factors Associated With Venous Complications In Lower Extremity Free Flap Reconstruction: A Multivariate Analysis, Bora Kahramangil, Ellen Wang, Imran Rizvi, Jessica R Nye, Kylie Swiekatowski, Alexandra Dunker, Kate Liao, Michael H Haydon, Jeffrey G Trost, Mohin A Bhadkamkar

Faculty, Staff and Student Publications

Background: Due to their dependent location, lower extremity (LE) free flaps (FFs) are at increased risk for venous complications. This study analyzes risk factors of venous complications in LE FFs.

Methods: A single-center retrospective review was conducted of adult patients undergoing LE FF reconstruction from 2016 to 2025. Variables included demographics, wound and operative characteristics, and the number of venous anastomoses. The primary outcome was venous complications, defined as a composite variable encompassing venous congestion, flap loss due to venous causes, and flap hematoma.

Results: The cohort consisted of 370 patients undergoing LE FF reconstructions. Single venous anastomosis was used …

Correction: Prospective Trial Of Cerebrospinal Fluid Filtration After Aneurysmal Subarachnoid Hemorrhage Via Lumbar Catheter Extension (Pillar-Xt), Spiros L Blackburn, Marc A Babi, Andrew W Grande, Omar A Choudhri, Erik F Hauck, Christopher P Kellner, Michael C Giordano, Shivanand P Lad, Aaron R Mccabe

Faculty, Staff and Student Publications

This corrects the article "Prospective Trial of Cerebrospinal Fluid Filtration After Aneurysmal Subarachnoid Hemorrhage via Lumbar Catheter Extension (PILLAR-XT)" in volume 43 on page 934.

Intestinal Fungi Shape The Biology Of The Mammalian Gut, Elena Lindemann-Pérez, J Christian Pérez

Faculty, Staff and Student Publications

No abstract provided.

Exploring Early Antifungal Activity Of Rezafungin As A Stepping-Stone For Shorter Treatment Duration For Candidemia: Pooled Analysis Of 2 Randomized Trials, Luis Ostrosky-Zeichner, Jalal A Aram, Mark Redell, George R Thompson, Oliver A Cornely, James A Mckinnell, Andrej Spec, Peter G Pappas

Faculty, Staff and Student Publications

Background: Guidelines recommend ≥2 weeks of antifungal therapy after candidemia clearance and for invasive candidiasis (IC). This post-hoc analysis evaluates Day 7 pooled data from the phase 2 STRIVE and phase 3 ReSTORE trials to explore early antifungal activity.

Methods: Adults with candidemia and/or IC received weekly rezafungin 400/200 mg or daily caspofungin 70/50 mg for ≤4 weeks. Efficacy was evaluated in the modified intent-to-treat population via all-cause mortality (ACM; primary endpoint; 20% noninferiority margin), mycological eradication, and time to negative blood culture (TTNBC) at days 7, 14, and 30 (TTNBC assessed only in patients with candidemia). Day 7 safety …

Probability Of Fentanyl Adulteration In Cocaine Selectively Decreases Cocaine Demand, Cecilia Nunez, Jin H Yoon, James Mackillop, Margaret C Wardle

Faculty, Staff and Student Publications

Fentanyl-related, cocaine-overdose deaths have drastically increased, yet research on how people who use cocaine perceive fentanyl adulteration is limited. This study developed the novel Adulterated Cocaine Purchasing Task (ACocPT), a modification of the original Cocaine Purchasing Task, to quantify how people respond to fentanyl adulteration in cocaine. In the ACocPT, participants indicated how much cocaine they would purchase when cocaine had no (0%) vs. some (10%) probability of fentanyl adulteration. Study aims were: 1) determine how possible fentanyl adulteration affects cocaine demand, and 2) determine which individual characteristics predict continued demand for cocaine despite fentanyl adulteration. This Amazon Mechanical Turk …

Carotid Endarterectomy Remains A Feasible Bailout For Progressive Disease After Transcarotid Artery Revascularization: A Case Report, Aidin Baghbani, Blaz Podgorsek, Jason B Storch, Gordon H Martin, Naveed U Saqib, Daniel G Miles

Faculty, Staff and Student Publications

Carotid endarterectomy (CEA) remains the gold standard for carotid revascularization, though transcarotid artery revascularization (TCAR) has emerged as a less invasive alternative. We present a 67-year-old man with prior bilateral TCAR who developed severe right internal carotid artery restenosis 14 months after the procedure. Imaging confirmed >80% stenosis due to progressive plaque burden compressing the stent. The patient underwent successful CEA with en bloc stent explant using a standard technique. Recovery was uneventful. This case demonstrates the technical feasibility and safety of surgical stent explant after TCAR and reinforces CEA as a reliable salvage strategy when stent failure or disease …

Carotid Endarterectomy Remains A Feasible Bailout For Progressive Disease After Transcarotid Artery Revascularization: A Case Report, Aidin Baghbani, Blaz Podgorsek, Jason B Storch, Gordon H Martin, Naveed U Saqib, Daniel G Miles

Faculty, Staff and Student Publications

Carotid endarterectomy (CEA) remains the gold standard for carotid revascularization, though transcarotid artery revascularization (TCAR) has emerged as a less invasive alternative. We present a 67-year-old man with prior bilateral TCAR who developed severe right internal carotid artery restenosis 14 months after the procedure. Imaging confirmed >80% stenosis due to progressive plaque burden compressing the stent. The patient underwent successful CEA with en bloc stent explant using a standard technique. Recovery was uneventful. This case demonstrates the technical feasibility and safety of surgical stent explant after TCAR and reinforces CEA as a reliable salvage strategy when stent failure or disease …

A New Era In Advocacy Training: Promoting Safety And Resilience, Elizabeth S Barnert, Lauren Gambill, Sheela Gavvala, Molly K Krager, Lauren Vonholtz, Lois K Lee, Lenore Jarvis

Faculty, Staff and Student Publications

No abstract provided.

Weight Loss And Chronic Rhinosinusitis In The Obese Population: Associations With Disease Risk And Burden, Zain Mehdi, Akshay R Prabhakar, Jagan M R Dwarampudi, Justina R Varghese, Heli Majeethia, Faizaan Khan, Roshan Dongre, Franklin M Wu, Aatin Dhanda, Sebastian Guadarrama-Sistos-Vazquez, Tania Banerjee, Renjie Hu, Amber U Luong, Dennis M Tang, Edward D Mccoul, Mohammad Chaaban, Masayoshi Takashima, Omar G Ahmed

Faculty, Staff and Student Publications

Objective: Obesity is associated with increased risk and severity of chronic rhinosinusitis (CRS), yet the impact of weight loss (WL) on CRS development and burden is not well defined. This study investigates whether weight reduction influences the likelihood of developing CRS and improves clinical outcomes among obese adults.

Methods: Retrospective cohort study using the NIH All of Us database. Obese adults (BMI ≥ 30) with complete demographics and follow-up were included. To assess CRS onset, patients were stratified into sequential WL cohorts and followed for 1 year. To assess CRS outcomes, patients who lost ≥ 5 BMI points were categorized …

How I Do It: The Transtracheal Approach For Awake Cricopharyngeal Botulinum Toxin Injection, Andrew Tritter, Alexander Simko, Karim Asi

Faculty, Staff and Student Publications

This transtracheal technique for cricopharyngeal botulinum toxin injection is a safe and effective option for chemodenervation of this muscle in the awake patient. Its advantages include reduced risk of toxin spread to intrinsic laryngeal muscles, the ability to administer higher doses of botulinum toxin, improved access to the entire length of the cricopharyngeus, and avoidance of general anesthesia.

Dyadic Associations Between Stress And Sleep Quality And Moderating Effects Of Emotional Intimacy And In Survivors Of Young Adult Cancer And Their Spouses: An Observational Study, Haejeong An, Seokhun Kim, Michael Roth, Kathrin Milbury, Dalnim Cho

Faculty, Staff and Student Publications

Background: Survivors of young adult (YA) cancer often experience substantial stress during the transition to survivorship, which may impair sleep. Although the stress-sleep link is well established, its role within survivor-spouse dyads remains unclear. Emotional intimacy may influence how couples regulate stress and affect sleep. This study examined dyadic associations between stress and sleep among survivors of YA cancer and their spouses and significant others (hereafter spouses) and tested emotional intimacy as a moderator.

Methods: A total of 103 survivor of YA cancer-spouse dyads completed self-reported measures of stress, emotional intimacy, and sleep quality. An actor-partner interdependence moderation model was …

Reply To Ozkok Et Al., Vikas Kannojiya, Akshita Sahni, Emily Eickhoff, Neha Zacharia, Nicole St Clair, Noah Schulz, Peter E Hammer, Pedro J Del Nido, Rahul H Rathod, David M Hoganson, Vijay Govindarajan

Faculty, Staff and Student Publications

No abstract provided.

Prkg1 Pathogenic Variants Cause Thoracic Aortic Dissection With Minimal Aortic Dilation: Insights From The Uthealth Houston Multidisciplinary Aortic And Vascular Disease Conference, Ali Askari, Jennifer R Landes, Alana Cecchi, Cihan Duran, Bihong Zhao, Gustavo S Oderich, L Maximilian Buja, Dianna M Milewicz, Anthony L Estrera, Rana O Afifi, Siddharth K Prakash

Faculty, Staff and Student Publications

A single, recurrent, gain-of-function pathogenic variant in PRKG1 (p.Arg177Gln, also referred to as p.Arg192Gln) causes heritable thoracic aortic disease with a high lifetime risk for aortic dissections that frequently occur before there is enlargement of the proximal thoracic aorta. This report summarizes the clinical manifestations of the PRKG1 pathogenic variant in two unrelated families, including early-onset type A dissection, chronic thoracoabdominal dissection with visceral complications, and elective aortic repair of the proximal aorta with minimal enlargement. In both families, multiple individuals experienced acute dissections at young ages that led to five fatalities. These cases illustrate the early onset of manifestations …

Nuclear Receptor Subfamily 4 Group A Member 2 Induces A Warburg-Like Effect And Promotes Phospholipids Synthesis In The Mouse Heart, Sadia Ashraf, Dorcas Odogwu, David D Mcpherson, Romain Harmancey

Faculty, Staff and Student Publications

Myocardial metabolic flexibility is critical to ensuring the heart's capacity to maintain contraction and cellular functions under rapidly evolving environmental conditions. Although it is a tightly regulated process, loss of metabolic flexibility is often regarded as a contributing factor to heart failure. This study aims to determine the effects of the early response transcription factor nuclear receptor subfamily 4 group A member 2 (NR4A2) on cardiac metabolism and the resulting impact on left ventricular function. A multiomics approach combining the analysis of global ventricular gene expression, genome-wide NR4A2 binding, and untargeted metabolomics was used to track the molecular effects of …

Distinct Effects Of Complement C4a And C4b Copy Numbers In Systemic Sclerosis Serological And Clinical Subtypes, Javier Martínez-López, Carlos Rangel-Peláez, Inmaculada Rodriguez-Martin, Alfredo Guillen-Del-Castillo, Carmen P Simeón-Aznar, José L Callejas, Oliver Distler, Susanna M Proudman, Mandana Nikpour, Nicolas Hunzelmann, Gianluca Moroncini, Jeska K De Vries-Bouwstra, Ariane L Herrick, Yannick Allanore, Marta E Alarcon-Riquelme, Lorenzo Beretta, Shervin Assassi, Christopher P Denton, Maureen D Mayes, Javier Martin, Marialbert Acosta-Herrera, Martin Kerick

Faculty, Staff and Student Publications

Objective: Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. The variable copy number (CN) of C4 genes and retroviral human endogenous retrovirus K (HERV-K) element influence its function. Given the relationship of C4 CN with systemic sclerosis (SSc) risk, we assessed associations with SSc clinical and serologic subtypes.

Methods: We compared imputed C4 CNs across SSc subgroups (4,049 anticentromere positive [ACA+]; 2,200 anti-topoisomerase I [ATA+]; 577 anti-RNA polymerase [ARA+]; 1,078 triple-negative [TN] patients; 6,295 limited cutaneous SSc [lcSSc]; and 2,946 diffuse cutaneous …

Vascular Disease Patient Information Page: Hereditary Hemorrhagic Telangiectasia (Hht), Rohan R Kasthuri, Harish Eswaran, Karen Smith, Raj S Kasthuri

Faculty, Staff and Student Publications

No abstract provided.