Digital Commons Network^™

Comparative Effectiveness Of En-Bloc Vs Conventional Transurethral Resection For Non-Muscle-Invasive Bladder Cancer A Systematic Review And Meta-Analysis, David E Hinojosa-Gonzalez, Gal Saffati, Troy La, Jackson Cathey, Juan C Angulo-Lozano, Gustavo Salgado-Garza, Jonathan Walsh, Bailey Slawin, Shane Kronstedt, Kate Lowrey, Jeremy R Slawin

Faculty, Staff and Students Publications

Introduction: Transurethral en-bloc resection of bladder tumor (ERBT) has emerged as an alternate technique to conventional transurethral resection of bladder tumor (cTURBT). While theoretically advantageous, the comparative effectiveness of ERBT across various technical approaches remains unclear. We performed an updated systematic review and meta-analysis to evaluate perioperative, pathologic, and oncologic outcomes of ERBT vs. cTURBT.

Methods: We systematically searched PubMed, EMBASE, Scopus, and Google Scholar for randomized controlled trials (RCTs) comparing ERBT and cTURBT. The primary outcome was recurrence-free survival (RFS). Secondary outcomes were operative time, complication rates, detrusor muscle presence, and need for repeated resection. Meta-analyses were performed, with …

Optical Coherence Tomography Enables The Depth-Resolved Measurement Of Cilia Beat Frequency In Ex Vivo Human Fallopian Tubes, Dilara J Long, Tian Xia, Photini F Rice, Deirdre M Scully, Makayla Johnson, Ryan Mistifer, Andrea Aguirre, John M Heusinkveld, Irina V Larina, Jennifer K Barton

Faculty, Staff and Students Publications

Objectives: The movement of cilia in the fallopian tubes (FTs) facilitates important processes involved in fertility, and abnormalities in cilia function are linked with diseases including endometriosis and pelvic inflammatory disease. For the first time, we demonstrate the use of optical coherence tomography (OCT) to create depth-resolved mapping of motile cilia locations and quantify cilia beat frequency (CBF) in human FT samples ex vivo.

Methods: Segments of the FT ampulla were acquired from five patients following salpingectomy under an IRB approved protocol. The samples were longitudinally opened to expose the luminal surface for imaging. A sequence of at least 500 …

Generation Of Induced Pluripotent Stem Cell Lines (Rfsci003-A, Rfsci004-A) From Monozygotic Twins Discordant For Age-Related Macular Degeneration, Naresh Rajendran, Wendy Runyon, Sam Hu, Ajeet Singh, Rinki Ratnapriya, Ritu Kumar, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Age-related macular degeneration (AMD) has significant genetic component, yet monozygotic twins frequently exhibit discordance in disease status, highlighting the role of non-genetic factors. To enable comparative studies of AMD pathogenesis, we generated two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of a monozygotic twin pair discordant for AMD. These iPSC lines offer a unique genetically matched resource to investigate molecular differences between affected and unaffected twins, as well as their responses to genetic, epigenetic, and environmental contributors to AMD development.

Steroids For Pediatric Adenotonsillectomy Pain-A Prospective Multicenter Randomized Trial, Kevin D Pereira, Wiktoria A Gocal, Anna V Borodianski, Mary E Williamson, Hengameh K Behzadpour, Sonal Saraiya, Diego A Preciado, Amal Isaiah

Faculty, Staff and Students Publications

Objective: To compare postoperative caregiver-reported pain control of two steroid regimens following pediatric adenotonsillectomy. Secondary objectives assessed differences in analgesic use, return to normal diet, caregiver calls, adverse effects, and emergency room (ER) visits.

Study design: Prospective randomized pragmatic trial.

Setting: Three academic tertiary care children's hospitals.

Methods: Healthy children aged 3 to 10 undergoing adenotonsillectomy were recruited and randomly assigned to receive either 0.6 mg/kg dexamethasone on postoperative day 3 or prednisolone 0.5 mg/kg days 1 to 3. Both groups continued standard weight-based regimens of acetaminophen and ibuprofen. A blinded research team member performed postoperative telephone surveys using the …

Validation Of An Assay For Ngal In A Pediatric Population, Nazmin Bithi, Ridwan B Ibrahim, Estella L Tam, Radwa Almamoun, Annette C Frenk Oquendo, Ayse Akcan-Arikan, Sridevi Devaraj

Faculty, Staff and Students Publications

Background and objectives: Acute kidney injury (AKI) poses a serious clinical challenge, particularly in high-risk environments, due to its association with increased morbidity and mortality. Traditional diagnostic markers, such as serum creatinine, often detect AKI only after significant kidney damage has occurred, limiting opportunities for early intervention. Neutrophil gelatinase-associated lipocalin (NGAL) has emerged as a promising early biomarker due to its rapid upregulation following kidney ischemia. NGAL supports renal recovery by reducing toxicity and promoting tubular regeneration via heme oxygenase-1 activity. This study aimed to validate the BioPorto ProNephro AKI™ turbidimetric immunoassay for urinary NGAL on the Ortho Vitros XT7600 …

Corrigendum To "Validation Of An Assay For Ngal In A Pediatric Population" [Practical Laboratory Medicine, Plabm 486, E00486], Nazmin Bithi, Ridwan B Ibrahim, Estella Tam, Radwa Almamoun, Annett C Frenk Oquendo, Ayse Akcan-Arikan, Sridevi Devaraj

Faculty, Staff and Students Publications

This corrects the article "Validation of an assay for NGAL in a pediatric population", e00486.

Excision And Regional Flap Reconstruction With Radiation Therapy Of Granuloma Annulare Of The Digit: A Case Report, Austin Y Jiang, Linda K Green, David Netscher

Faculty, Staff and Students Publications

Granuloma annulare (GA) is a benign, often self-limited granulomatous skin condition that typically resolves spontaneously. Treatment is often not required, but topical and injectional corticosteroids are the most common interventions. Excision is effective for diagnosis and temporary treatment, but usually not considered curative. This case report describes the unconventional treatment of a recurrent biopsy-proven GA of the index finger. Due to the combination of the recalcitrant nodules interfering with function and patient preference, the nodules were excised multiple times. Ultimately requiring reconstruction with a pedicled radial forearm flap, the patient thereafter received radiation therapy to prevent recurrence, the combination of …

Fetal Presentation Of A Child With Partial Atrioventricular Septal Defect And Calcium Release Deficiency Syndrome, Alexander J Kiener, Tam Dan N Pham, Christina Y Miyake, James C Wilkinson

Faculty, Staff and Students Publications

No abstract provided.

2d Speckle Tracking Strain Echocardiography In Multisystem Inflammatory Syndrome In Children: A Multicenter Analysis From The Music Study, Francesca Sperotto, Valiantsina Kazlova, Felicia L Trachtenberg, Dongngan T Truong, Sanjeev Aggarwal, Joseph R Block, Tamara T Bradford, Sujatha Buddhe, Audrey Dionne, Andreea Dragulescu, Kanwal M Farooqi, Daniel E Forsha, Therese M Giglia, Ian F Golding, Keren Hasbani, Pei-Ni Jone, Anita Krishnan, Sean M Lang, Carol A Mcfarland, Elizabeth C Mitchell, Elias Moussi Saad, Todd T Nowlen, Ricardo H Pignatelli, Scott Pletzer, Ryan Serrano, Divya Shakti, Shubhika Srivastava, Thor Thorsson, Jodie K Votava-Smith, Hunter C Wilson, Jane W Newburger, Kevin G Friedman

Faculty, Staff and Students Publications

Background: 2D-speckle tracking echocardiography may help detect subclinical ventricular dysfunction, but data in multisystem inflammatory syndrome in children (MIS-C) are scarce. We investigated left ventricular (LV) strain parameters in MIS-C and their association with outcomes.

Methods: We performed an ambi-directional, 32-center cohort study on hospitalized patients with MIS-C (March 2020-November 2021) with at least 1 echocardiogram read by the Core Lab. Generalized estimating equation modeling was used to test associations between LV strain and a composite in-hospital adverse cardiovascular outcome (vasoactive support, arrhythmias, cardiac arrest, extracorporeal support, death, or heart transplant).

Results: Of 349 patients (median age, 8.7 years [interquartile …

De Novo Pathogenic Csf1r Variant Implicates Microglial Dysfunction In Pathogenesis Of Febrile Infection-Related Epilepsy Syndrome, Kristen S Fisher, Jesse M Levine, Alexander Ankar, Ruizhi Duan, Yi Chen Lai, Eyal Muscal, Sarah R Risen, James J Riviello, Pei-Chien Tsai, Daniel G Calame

Faculty, Staff and Students Publications

Febrile infection-related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus following a febrile illness with resulting refractory epilepsy. Evidence supports the presence of immune dysregulation in patients with FIRES, but a monogenic basis for FIRES has not been identified in most cases. We present a case of a previously healthy 16-year-old male with FIRES who was found to have a de novo predicted damaging missense variant in CSF1R on clinical whole genome sequencing, a gene encoding a critical regulator of microglial homeostasis in which pathogenic variants cause adult onset leukoencephalopathy. Molecular modeling demonstrates that the CSF1R variant …

Critical Care Cadets: A Serious Game For Managing Mechanical Ventilation, Daniel Hassumani, Satid Thammasitboon, Fong Lam, Aarti Bavare, Moushumi Sur, Shelley Kumar, Thomas Reeves, Brian Rissmiller

Faculty, Staff and Students Publications

Background: Pediatric critical care medicine (PCCM) fellows require proficiency in mechanical respiratory support and ventilator management strategies. Traditional training methods have limitations, and there is a need to expedite the learning process. Serious games have emerged as effective supplements to traditional teaching methods, promoting knowledge acquisition through immersive and engaging experiences. However, there is a void in the context of complex decision making in mechanical ventilation management.

Objective: To develop a serious game to enhance the knowledge and practical strategies of PCCM fellows in mechanical ventilation management.

Methods: The game was designed on the basis of theory-informed design principles and …

Characteristics And Outcomes Of Children Initiated On High Flow Nasal Cannula And Continuous Positive Airway Pressure At The Emergency Centre Of A District Hospital In South Africa, Jessica Head, Andrew Redfern, Jana Hoole, Liezl Ulbrich, Refilwe More, Daniël J Van Hoving, Eric D Mccollum, Shubhada Hooli

Faculty, Staff and Students Publications

Introduction: High-flow nasal cannula (HFNC) and continuous positive airway pressure delivered via a nasal interface (nCPAP) are increasingly used for paediatric emergency care in South Africa. In Cape Town, initiation of HFNC/nCPAP at a district hospital, in most instances, necessitates transfer to a paediatric high-care facility. We sought to describe the population of children initiated on HFNC/nCPAP and their short-term hospital outcomes post interfacility transfer.

Methods: The authors conducted a one-year retrospective observational study between August 1st 2021, to July 31st, 2022 of children initiated on HFNC or nCPAP in the emergency centre (EC) of Khayelitsha district Hospital and transferred …

Superior Vena Cava And Atrial Cardiomyopathy: Role Of Adjunctive Superior Vena Cava Isolation Ablation In Atrial Fibrillation, Bharat K Kantharia, Xander H T Wehrens, Dominik Linz

Faculty, Staff and Students Publications

No abstract provided.

Women And Kidney Health: Conclusions From A Kidney Disease: Improving Global Outcomes (Kdigo) Controversies Conference, Giorgina Barbara Piccoli, Sofia B Ahmed, Fadi Fakhouri, Vesna D Garovic, Michelle A Hladunewich, Shilpanjali Jesudason, Jai Prakash, Angela C Webster, Elena Zakharova, Michael Cheung, Jennifer M King, Michel Jadoul, Wolfgang C Winkelmayer, Christina M Wyatt

Faculty, Staff and Students Publications

The KDIGO (Kidney Disease: Improving Global Outcomes) Controversies Conference on Women and Kidney Health was convened to identify key sex and gender issues in kidney care, practices for optimizing healthcare in women with kidney diseases, and priorities for future research. Participants emphasized the importance of addressing the influence of sex and gender in diagnosis, risk assessment, prognosis, and treatment of chronic kidney disease (CKD) and its complications, as well as considering issues across the lifespan (puberty, sexual and reproductive health, menopause). CKD is a risk factor for adverse pregnancy outcomes with every type of kidney disease and severity. All women …

High-Fidelity Finite Element Modeling Technique To Improve Sensitivity To Bone Tissue Changes Of Older Adults With Obesity Undergoing Intensive Lifestyle Intervention, Michael A K Liebschner, Daeseung Kim, Nina Klonis, Giulia Gregori, Reina Armamento-Villareal, Clifford Qualls, Dennis T Villareal

Faculty, Staff and Students Publications

Introduction: Obesity presents a significant health risk for the aging population. Research shows that weight loss and regular exercise can greatly improve the functional status of older adults who are obese. However, weight loss may also result in a decrease in bone mass. To properly assess changes in fracture risk due to lifestyle interventions, a direct biomechanical evaluation of bone strength and fracture risk at metabolically active sites is essential.

Methods: Computed tomography scans taken at two different time points of ten human volunteers provided the foundation for this study. A high-fidelity segmentation and modeling approach was taken to generate …

Clinical Phenotype And Outcomes In Autoimmune Encephalitis After Herpes Simplex Virus Encephalitis: A Systematic Review And Meta-Analysis, Jonathan Cleaver, Renetta Chungath, Amy Gimson, Christine Strippel, Bryan Ceronie, Babak Soleimani, Thomas Johnson, Eyal Muscal, Kristen Fisher, Yike Jiang, Timothy A Erickson, Kristy O Murray, Siv Tonje Faret Hovet, Charlotte Aaberg Poulsen, Anna Søgaard Magnussen, Pauline Dumez, Shannon Ronca, Martin Häusler, Annegret Quade, Andrew Swayne, Morten Blaabjerg, Mette Nissen, Alexander J Sandweiss, Jerome Honnorat, Russell Dale, Ming Lim, Michael Eyre, Margherita Nosadini, Lahiru Handunnetthi, Sarosh R Irani, Adam E Handel

Faculty, Staff and Students Publications

Background: Autoimmune encephalitis after herpes simplex virus encephalitis (HSVE-AE) represents the intersection of central nervous system infection and autoimmunity. Defining the phenotype and the safety and effectiveness of immunotherapy in HSVE-AE would help identify immunotherapy candidates, optimise therapeutic strategies, and improve patient outcomes.

Methods: We systematically searched Embase, Medline, PubMed, and Web of Science (2007-2024) for cases meeting consensus criteria for AE after confirmed HSVE. Demographics, phenotype, treatment and outcome data were extracted. Dimensionality reduction, network analysis, and multivariate logistic regression was used to explore age- and diagnosis-specific patterns and outcome predictors.

Results: From 2259 articles screened, 78 studies (225 …

Wandering Spleen In A Pediatric Lung Transplant Patient With Filamin A Deficiency: An Incidental Finding, Savannah Ellis Knight, Mayel Yepez Donado, Maria Carolina Gazzaneo

Faculty, Staff and Students Publications

Background: Filamin A (FLNA) deficiency is a known cause of progressive lung disease and need for pediatric lung transplant; however, what may be less well known to lung transplant providers are the extrapulmonary complications of FLNA deficiencies, such as wandering spleen. We present a patient who underwent a lung transplant for FLNA deficiency and later developed posttransplant abdominal pain.

Case presentation: An 11-year-old female who had previously undergone a bilateral lung transplant due to FLNA deficiency, causing progressive lung disease, presented with abdominal pain and diarrhea. The patient's stool was tested for causes of gastroenteritis using a gastrointestinal pathogen panel …

Changes In Child Placement After Child Abuse Pediatrics Consultation For Suspected Physical Abuse, Kristine A Campbell, Antoinette L Laskey, Daniel M Lindberg, M Katherine Henry, Porcia Vaughn, James D Anderst, Megan M Letson, Angela N Bachim, Nancy S Harper, Carmen M Coombs, Lori D Frasier, Joanne N Wood

Faculty, Staff and Students Publications

Background: The association between child abuse pediatric (CAP) assessments and child welfare outcomes is unknown.

Objective: To determine the association between a CAP determination of the likelihood of physical abuse and change in child placement. We hypothesized that child race would be associated with CAP determination of abuse likelihood and child welfare outcomes.

Participants and setting: Children under age ten years with in-person CAP consultation and referral to child protective services for suspected physical abuse at a U.S. pediatric referral center participating in CAPNET, a CAP research network, from 02/2021 to 01/2023.

Methods: We created a series of generalized estimating …

Spatial Omics Enters The Microscopic Realm: Opportunities And Challenges, Yichen Si, Joo Sang Lee, Goo Jun, Hyun Min Kang, Jun Hee Lee

Faculty, Staff and Students Publications

Spatial transcriptomics (ST) enables systematic profiling of whole-transcriptome gene expression in tissues while preserving spatial context. Recent advances in sequencing- and imaging-based ST technologies have ushered in the era of microscopic-resolution ST (μST), allowing transcriptome mapping at cellular and even subcellular scales with unprecedented precision. Despite these advances, μST faces substantial challenges, including sparse transcript discovery per submicron (or micron)-sized spatial units and data fragmentation across platforms, hindering integration and analysis. There is also a growing demand for scalable, segmentation-free, and universally applicable analysis methods, as well as strategies for 3D mapping, multi-omics integration, and artificial intelligence (AI)-driven spatial analysis. …

Focal Adhesion Kinase Drives Rho/Rock And Mtor Signaling To Protect And Augment Aortic Dissections, Zhen Zhou, Pujun Guan, Ripon Sarkar, Yang Yu, Alexis Richard, Dar Weiss, Yuki Kawamura, Chen Zhang, Yanming Li, Tomas Vaisar, Daniel R Martin, L Maximillian Buja, Zhouxuan Li, Kartik Venkatachalam, Ying H Shen, Scott A Lemaire, Jay D Humphrey, Dianna M Milewicz

Faculty, Staff and Students Publications

Dysfunctional mechanosensing via focal adhesions (FAs) significantly contributes to thoracic aortic dissection in the β-aminopropionitrile mouse model by triggering FA kinase activation and subsequent Rho/ROCK and mTOR signaling pathways. The present findings indicate that these signaling pathways play distinct roles in ascending vs descending dissections. Specifically, in the ascending aorta, smooth muscle cell FA kinase-Rho/ROCK signaling acts as a beneficial adaptive mechanism to prevent dissections, whereas mTOR signaling is pathogenic and contributes to dissections.

A Divergent Cyclic Nucleotide Binding Protein Promotes Plasmodium Ookinete Infection Of The Mosquito, Dominika Kwecka, Zhishuo Wang, Edvardas Eigminas, Lijia Liu, Jennifer C Regan, Choel Kim, Nisha Philip

Faculty, Staff and Students Publications

Colonisation of mosquitos by the malarial parasite is critically reliant on the invasive ookinete stage. Ookinete invasion of mosquito is coordinated by the apical complex, a specialised parasite structure containing components for secretion, attachment and penetration. While studies have investigated cytoskeletal and secretory elements, it is currently unknown if signalling modules are present or functional at the apical complex. Here we elucidate the role of a cryptic cyclic nucleotide-binding protein which we name CBP-O. PbCBP-O showed a marked localisation to the ookinete apex and disruption of the protein severely compromised ookinete invasion of mosquitos. Domain dissection analysis revealed that the …

A Review Of The United States Global Surgery Program Landscape By Website Analysis, Lauren E Cox, Cassandra M D'Amico, Shriya Bhoothapuri, Joseph A Q Karam, Rachel W Davis, Mike M Mallah

Faculty, Staff and Students Publications

Background: Over the past decade, since the 2015 Lancet Commission on Global Surgery (LCoGS) highlighted the global burden of disease attributable to a lack of safe surgical care, medical degree-granting institutions across the United States (US) have worked to increase engagement in global surgery. The research team aimed to analyze the current landscape and provide an overview of all US-based global surgery programs. It was predicted that most medical institutions in the US would not have established programs. For those with global surgery programs, their mission statements and demonstrated output were classified according to a list of five domains, including …

Emergency Department Utilization Among Co-Residing Family Caregivers Of Persons Living With Dementia, Pei-Chun Cha, Craig Rothenberg, Anita N Chary, Justine Seidenfeld, Ula Hwang, Terri Fried, Joan K Monin, Arjun K Venkatesh, Cameron J Gettel

Faculty, Staff and Students Publications

No abstract provided.

Comparative Effectiveness Of Less Vs More Frequent Hydrocortisone Dosing In Septic Shock, Alan Hao, Tianshi David Wu, Keegan Collins, Danielle Guffey, Rebecca Kessinger, Meghna Vallabh, Ali Omranian

Faculty, Staff and Students Publications

Objectives: Guidelines recommend hydrocortisone as an adjunctive treatment in septic shock, but the optimal dosing regimen is unknown. A national shortage of hydrocortisone in 2023 prompted a change in institutional practice for hydrocortisone administration from 50 mg every 6 hours to 100 mg every 12 hours in an effort to reduce waste and conserve vials, creating an opportunity to evaluate the comparative effectiveness of these two regimens. The primary efficacy outcome was time to shock resolution, and secondary outcomes evaluated in this study were mortality, renal replacement therapy (RRT), medication costs, and maximum vasopressor dose attained.

Design: Single-center, retrospective cohort …

Patient-Centered Management Of Heavy Menstrual Bleeding While On Anticoagulation: A Survey Study, Benjamin Barnett, Rushad Patell, Dana Angelini, Leben Tefera, Jordan K Schaefer, Ang Li, Alejandra Gutierrez Bernal, Shruti Chaturvedi, Anjlee Mahajan, Leslie Lake, Jori May, Anna L Parks

Faculty, Staff and Students Publications

Background: Nearly three-quarters of women experience heavy menstrual bleeding (HMB) during anticoagulation treatment for venous thromboembolism (VTE). HMB can lead to medical interventions, impact school or work and diminish quality of life (QOL). While there are several management options for HMB in patients with VTE, we lack information on how patients approach HMB treatment decisions.

Objectives: We examined patients' experience with, perceptions of, and preferences for treatment of HMB while on anticoagulation.

Methods: Clinicians and patient advocates developed a web-based survey that was distributed via patient advocacy organizations and social media between May and June 2024, targeting participants 18 years …

Fluid Assessment Scoring Tool (Fast): Development Of A Novel Fluid Assessment Scoring Tool For Critically Ill Pediatric Patients-A Pilot Study, Mohammed Salameh, Pranali Awadhare, Jennifer Joiner, Michael Scheurer, Utpal Bhalala

Faculty, Staff and Students Publications

Introduction: Monitoring fluid balance (FB) is important yet challenging in the pediatric intensive care unit (PICU). Currently used, conventional methods of fluid assessment are either not feasible or unreliable. Also, there is a lack of composite scores or clinical algorithms that use different parameters of fluid status. We aim to develop a fluid assessment scoring tool (FAST) to clinically assess the fluid status of children in the PICU.

Methods: In this pilot study, we included critically ill patients aged 0-21 years who presented to our PICU between December 2020 and March 2021 and required invasive or non-invasive mechanical ventilation, inotropes, …

Whole-Genome Sequence-Based Association Analysis Of African American Individuals With Bipolar Disorder And Schizophrenia, Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon Lefaive, Jiongming Wang, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, National Heart, Lung, And Blood Institute Trans-Omics For Precision Medicine (Topmed) Consortium;, Genomic Psychiatry Cohort Investigators, Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve A Mccarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Scott

Faculty, Staff and Students Publications

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole-genome sequencing (∼27X) of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study). We increased power by incorporating 14,812 jointly called psychiatrically unscreened ancestry-matched controls from the Trans-Omics for Precision Medicine (TOPMed) Program for a total of …

Longitudinal Meta-Cohort Study Protocol Using Systems Biology To Identify Vaccine Safety Biomarkers, Joann Diray-Arce, Ana C Chang, Sara Moradipoor, Donato Amodio, Bruce Carleton, Wan-Chun Chang, Nigel W Crawford, Meagan Karoly, Annmarie Hoch, Kerry Mcenaney, Tahir S Kafil, Mahitha Donthireddy, Sarah K Steltz, Simon D Van Haren, Asimenia Angelidou, Kinga K Smolen, Hanno Steen, Jessica Lasky-Su, Huyen Tran, Peter Liu, C Buddy Creech, Clare L Cutland, Helen Petousis-Harris, Ishac Nazy, Rae S M Yeung, Sonali Kochhar, Steve Black, Nicholas Wood, Dale Nordenberg, Paolo Palma, Inna G Ovsyannikova, Richard B Kennedy, Gregory A Poland, Al Ozonoff, Robert T Chen, Ofer Levy, Karina A Top, International Network Of Special Immunization Services (Insis) Members

Faculty, Staff and Students Publications

The International Network of Special Immunization Services (INSIS) was established to investigate the causes and risk factors of rare adverse events following immunizations (AEFIs) and develop immunization strategies for mitigating or preventing risk for individuals with prior AEFIs or at risk of AEFIs. INSIS integrates clinical data with multi-omic technologies (e.g., transcriptomics, proteomics, metabolomics) through a global consortium of clinical networks, leading immunology, pharmacogenomics teams to uncover the molecular mechanisms behind AEFIs. The network ensures accurate and standardized data collection and analysis through rigorous data management and quality assurance processes. INSIS also implements harmonized case definitions and protocols for collecting …

C-C Motif Chemokine Receptor-Like 2 Promotes The Interferon-Γ Signaling Response In Myeloid Neoplasms With Erythroid Differentiation And Mutated Tp53, Nour Sabiha Naji, Sergiu Pasca, Theodora Chatzilygeroudi, Pablo Toledano-Sanz, Joseph Rimando, Yuju An, Yashvi Hemani, Brandy Perkins, Xinghan Zeng, Conover Talbot, Bogdan Paun, Abdulmuez Abdulmalik, Chen Lossos, Tatianna R Boronina, Ilias Sinanidis, Panagiotis Tsakiroglou, Priyanka Fernandes, Christopher Esteb, Alexander J Ambinder, Robert N Cole, Rena Xian, Ivana Gojo, Suman Paul, Mark J Levis, Amy E Dezern, Leo Luznik, Styliani Karanika, Linda S Resar, Richard J Jones, Frederick Bunz, Lukasz Gondek, Marios Arvanitis, Theodoros Karantanos

Faculty, Staff and Students Publications

Patients with myeloid neoplasms with loss-of-function TP53 mutations and erythroid differentiation have poor outcomes, and a better understanding of disease biology is required. Upregulation of interferon-γ (IFN-γ) signaling has been associated with acute myeloid leukemia (AML) progression, selection of TP53 mutated clones and chemotherapy resistance, but its drivers remain unclear. In this study, we found that the surface receptor C-C motif chemokine receptor-like 2 (CCRL2) is overexpressed in AML with erythroid differentiation and TP53 mutations compared to other AML subtypes and healthy hematopoietic cells. CCRL2 knockout (KO) suppressed erythroleukemia growth in vitro and in vivo. Further proteomics and transcriptomics analysis …

Conventional Versus Advanced Imaging Selection For Endovascular Treatment Of Basilar Artery Occlusion Strokes, Huanwen Chen, Marco Colasurdo, Hidetoshi Matsukawa, Conor Cunningham, Ilko Maier, Sami Al Kasab, Pascal Jabbour, Joon-Tae Kim, Stacey Quintero Wolfe, Ansaar Rai, Robert M Starke, Marios-Nikos Psychogios, Edgar A Samaniego, Nitin Goyal, Shinichi Yoshimura, Hugo Cuellar, Jonathan A Grossberg, Ali Alawieh, Ali Alaraj, Mohamad Ezzeldin, Daniele G Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Fazeel Siddiqui, Joshua Osbun, Roberto Crosa, Charles Matouk, Min S Park, Michael R Levitt, Waleed Brinjikji, Mark Moss, Travis Dumont, Ergun Daglioglu, Richard Williamson, Pedro Navia, Reade De Leacy, Shakeel Chowdhry, David J Altschul, Alejandro M Spiotta, Peter Kan

Faculty, Staff and Students Publications

Introduction: Endovascular thrombectomy (EVT) is an effective treatment for basilar artery occlusion (BAO) stroke in select patients. While there is a growing body of literature suggesting that advanced imaging modalities such as computed tomography perfusion (CTP) and magnetic resonance (MR) may not be necessary for selecting anterior circulation large vessel occlusion stroke patients for EVT, whether advanced imaging may be superior to conventional imaging (non-contrast CT and CT angiography) in identifying good treatment candidates among BAO patients is less clear.

Patients and methods: This was a multicenter retrospective cohort study of BAO EVT patients treated from 2013 to 2022 in …