Medicine and Health Sciences Commons^™

Dental Rankings: Relevant Or A Psychological Rollercoaster?, Stuart L. Segelnick Dds, Ms

The New York State Dental Journal

It may take a village of dentists honing in on their own rankings to reverse the profession’s downward trend.

Transcatheter Aortic Valve Replacement In Systemic Sclerosis: A Case Series And Review Of Short- And Long-Term Outcomes, Chris T. Derk, Ahmadreza Badali, Esra Mehmetoglu, Anvitha Mummadisetty, Amit Syal, Konstantinos Parperis

Student Papers, Posters & Projects

Objectives: A higher frequency of valvular heart disease is seen among Systemic Sclerosis (SSc) patients. Advanced aortic valve stenosis leads to significant morbidity in these patients with multiple other comorbidities. In this study, we aim to define the short- and long-term outcomes of transcatheter aortic valve replacement (TAVR) procedures in SSc patients. Methods: We undertook a retrospective chart review of all patients with SSc who underwent a TAVR procedure at our institution over a defined 11-year period. Demographics as well as short- and long-term outcomes were identified. Results: Fourteen SSc patients underwent a TAVR procedure between 2012 and 2023. They …

Endorsed Programs News, Reva Darling

The Journal of the Michigan Dental Association

This section provides updates on services and resources endorsed by the MDA to help members succeed in practice. It covers critical compliance topics like OSHA employee alarm standards and emergency evacuation procedures. Financial advice is offered for associates looking to purchase a practice, focusing on credit scores and debt management. Additionally, it promotes tools for increasing revenue through PPO negotiation and lowering insurance costs via risk management training. The source also mentions the availability of free, confidential counseling through the MDA Member Assistance Program.

Selective Icu Admission Following Head And Neck Free Flap Reconstruction: A Retrospective Study, Jacob Parker, Emma Dunn, Alisa Vidwans, Mayte Diaz, William Nick Doyle Bs, Samer Elsamna, Tara Mohktari, Christopher Nickel, Matthew Mifsud

USF-LVHN SELECT

No abstract provided.

Lehigh County Harm Reduction Women’S Outreach, Linda Schiller, Abby S. Letcher Md, Nyann Biery Ms, Heather Diehl, Carnen Ortiz, Bryant Rivera, William Delgado

USF-LVHN SELECT

No abstract provided.

Bacillus Calmette-Guérin–Exposed Non–Muscle-Invasive Bladder Cancer: Survival Benchmarks, Bladder-Sparing Strategies, And Implications For Trial Design, Seyed Behzad Jazayeri, Renzo G. Dinatale, Christopher W Guske, Christian Harrs, Joshua Linscott, Hongzhi Xu, Facundo Davaro, Lexiaochuan Wen, Philippe E. Spiess, Wade J. Sexton, Scott M. Gilbert, Logan Zemp, Michael Poch, Roger Li

USF-LVHN SELECT

No abstract provided.

Remodeling Of The Mouse Liver And Skeletal Muscle Metabolome In Response To Continuous Acute Exercise And Disruption Of Ampk-Glycogen Interactions, Mehdi R. Belhaj, David I. Broadhurst, Thomas Dignan, Jamie Whitfield, Lisa Murray-Segal, Naomi X.Y. Ling, Jonathan S. Oakhill, Bruce E. Kemp, John A. Hawley, Stacey N. Reinke, Nolan J. Hoffman

Research outputs 2022 to 2026

Background/Objectives: Acute exercise remodels many interconnected biochemical pathways in metabolically active tissues. This remodeling involves the activation of the energy-sensing AMP-activated protein kinase (AMPK) to maintain cellular energy homeostasis. Critical energy reserves of glycogen, primarily stored in liver and skeletal muscle and known to interact with AMPK, are utilized to help meet increased energy demands with exercise. However, the breadth of metabolic pathways regulated by acute exercise and AMPK’s interactive roles with glycogen remain incompletely understood. This study therefore aimed to map mouse liver and skeletal muscle metabolite responses to continuous acute exercise and disruption of AMPK-glycogen interactions. Methods: Liquid …

Hyperacute Effects Of Non-Code Dose Bolus Epinephrine In Paediatric Cardiac Intensive Care Patients: Insights From High-Fidelity Physiologic Data., Wesam Sourour, Michael Evans, Kevin Le, Saul Flores, Juan S. Farias, Rohit Seth Loomba

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Non-code dose boluses of epinephrine are utilised in critically ill paediatric patients during periods of hemodynamic deterioration, often with the hopes of preventing a cardiac arrest. Data regarding the physiologic effects of these administrations are limited. The primary aim of this study was to use high-fidelity physiologic data to characterise the effects of intravenous non-code dose bolus epinephrine.

METHODS: Paediatric patients in the cardiac ICU who received non-code dose bolus epinephrine were identified. Those who received fluid boluses or chest compressions within 2 minutes of bolus epinephrine were excluded. Autoregressive integrated moving average analyses with exogenous variables were conducted …

Geographic Access To Pediatric Ecmo And Ecpr: A Geospatial Study Of Transport Networks And Disparities., Allan M. Joseph, Andrew J. Lautz, Carlie N. Myers, Ranjit S. Chima, Juan P. Gurria, Shafee Salloum, Wendy Hasson, Matthew P. Malone, Jenna Miller, Maya L. Dewan

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND AIM: Extracorporeal membrane oxygenation (ECMO) can help children survive severe cardiac and/or respiratory failure, but it is only provided in specialized centers. There are disparities in access by ground transport to ECMO services, but it is unknown to what extent interfacility transfer systems can expand access. Additionally, the number of children who live in proximity to centers that perform extracorporeal cardiopulmonary resuscitation (ECPR) to be potential candidates in case of out-of-hospital cardiac arrest (OHCA) is unknown. We conducted a geospatial analysis to answer these questions.

METHODS: We conducted a geospatial analysis of the Extracorporeal Life Support Organization (ELSO) …

Defining The Society Of Pediatric Liver Transplantation (Split) Research Agenda: A Delphi Consensus Project., Sharad I. Wadhwani, Pooja Reddy Spector, Amy G. Feldman, Katryn N. Furuya, Kayla Hartjes, Chaowapong Jarasvaraparn, Beau Kelly, Stacee M. Lerret, Krupa Mysore, Arti Pawaria, Philip Rosenthal, Amy Shui, Voytek Slowik, Sarah Taylor, Jennifer Vittorio, Pamela L. Valentino, Society Of Pediatric Liver Transplantation (Split)

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Despite major advances in surgical and medical management, only one-third of pediatric liver transplant (LT) recipients remain morbidity-free at 10 years. The Society of Pediatric Liver Transplantation (SPLIT) published a research agenda over 10 years ago, and much progress has been made since then. An updated consensus-driven SPLIT research agenda could guide future research and funding priorities. We aimed to identify and prioritize key research needs across the continuum of pediatric LT care using a modified Delphi consensus approach.

METHODS: We conducted a three-round modified Delphi process among SPLIT members. In round 1, participants submitted open-ended research priorities. In …

Complications Leading To Reoperation After Pediatric Tibial Spine Fracture Fixation., Benjamin R. Caruso, Suzanna M. Ohlsen, Keinan Agonias, Robert L. Van Pelt, Michelle M. Son, Michael G. Saper, Jason Rhodes, J Marc Cardelia, Jay C. Albright, Shital N. Parikh, Kevin G. Shea, Henry B. Ellis, Philip L. Wilson, Members Of The Score Quality Improvement Registry, Sheila Algan, Jennifer J. Beck, Richard E. Bowen, Jennifer M. Brey, Matthew J. Brown, Christian Clark, Allison Crepeau, Eric W. Edmonds, Matthew Ellington, Peter D. Fabricant, Jeremy Frank, Theodore J. Ganley, Daniel W. Green, Benton Heyworth, Ryan Koehler, Alfred A. Mansour, Stephanine Mayer, Scott D. Mckay, Molly C. Meadows, Matthew Milewski, Emily L. Niu, Donna M. Pacicca, Stephanie S. Pearce, Matthew R. Schmitz, Stephen Storer, Curtis Vandenberg, Yi-Meng Yen, Gregory A. Schmale

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Tibial spine fractures (TSFs) are uncommon injuries in pediatric patients, often requiring operative fixation. While complications such as arthrofibrosis and anterior cruciate ligament (ACL) insufficiency have been previously reported, the risk factors associated with unplanned reoperation remain incompletely understood.

PURPOSE: To identify the most common complications leading to reoperation and to evaluate associated risk factors, using a multicenter quality improvement registry.

STUDY DESIGN: Case-control study; Level of evidence, 3.

METHODS: A multicenter registry of operatively treated pediatric TSFs was retrospectively reviewed from July 2018 to March 2025 across 27 institutions. Grade 3 complications were defined as complications resulting in …

Leappt: Leveraging Generative Artificial Intelligence-Pediatric Pulmonology Training. Curriculum And Content Development., Alvin Singh, Erin Khan, Mary Moffatt

Manuscripts, Articles, Book Chapters and Other Papers

After redesigning the curriculum of the pediatric pulmonology fellowship program at Children's Mercy-Kansas City, leadership continued to make changes based on feedback from a faculty survey concerned about the quality and structure of didactics. These changes included leveraging generative artificial intelligence to create a detailed course content outline containing specific objectives and study points for each subject related to pediatric pulmonology. Using the content outline as a foundational reference for learners, fellowship leadership continues to enhance the curriculum by creating testing questions, flipped classroom sessions and evaluations, and hope that these specific changes will help address decreased passing rates on …

Effect Of Dental Treatments On Reduction Of Preterm Birth: A Systematic Review And Meta-Analysis, Camille Thomas, Shakil Ahmed, Vincenzo Berghella, Romina Brignardello-Petersen, Mohamed El-Rabbany, Catherine Devion, Stefania Ronzoni

Department of Obstetrics and Gynecology Faculty Papers

OBJECTIVE: Periodontal disease is associated with increased risk of preterm birth. Effective management during pregnancy may reduce preterm birth, though clinical trial evidence has been inconsistent. This study aimed to assess whether treating dental disease during pregnancy reduces preterm birth.

DATA SOURCES: A systematic search was performed of EMBASE, MEDLINE, PubMed, Cochrane Library, and trial registries up to December 2023 and re-run in January 2025.

STUDY ELIGIBILITY CRITERIA: Randomized controlled trials (RCTs) enrolling pregnant persons with any dental disease randomized to receive dental treatment vs no treatment were included. No language restriction was applied.

STUDY APPRAISAL AND SYNTHESIS METHODS: Data …

Co-Occurring Vocal Symptoms In Speech-Language Pathologists: A Survey Study, Dawn M. Stanley

Journal of Human Services: Training, Research, and Practice

Vocal symptoms among speech-language pathologists (SLPs) are often overlooked in occupational voice research. In a profession where voice is the primary tool, SLPs usually neglect the instrument they ask others to protect. Vocal symptoms may arise due to high vocal demands in clinical and educational settings. Despite their expertise in communication disorders, SLPs remain an understudied population in vocal health. This study surveyed 202 SLPs to examine the experiences of vocal symptoms during clinical practice. Results indicated that SLPs reported co-occurrences of vocal effort and vocal fatigue 29 (22%) which can interfere with vocal quality when treating patients.

Undergraduate Health And Wellbeing Course And Study Away Program To Alaska, Lorraine S. Wallace, Steven J. Mousetes, Jennifer Bickley

Journal of Global Education and Research

High-impact practices, such as diversity/global education, have been shown to positively contribute to student development, engagement, and success. As the US is both culturally and linguistically diverse, domestic study away programs can offer students impactful multicultural educational experiences without leaving the country. The purpose of this study was to describe the design of a health and well-being academic course and accompanying study away program to Alaska for undergraduates at The Ohio State University (OSU). The authors (1) describe the application of the backward design process in guiding ELOs development, (2) provide a sample of course assignments and student responses, and …

Development Of An Automated Platform For Cell Biology Experiments, Dipendra Nepal

Shelby Hall Graduate Research Forum Posters

Cell biology experiments involve repetitive tasks such as pipetting, sample preparation, and imaging, which are typically performed manually. These manual processes can introduce variability, reduce efficiency, and increase the cost of biomedical research. To address these challenges, our lab is developing a modular robotic platform, iEye™, to automate key steps in cell biology workflows [1]. The system is designed as self-contained modules, allowing flexible development and integration of different functionalities. In this work, we focus on a sample preparation module that integrates a 6-degree-of-freedom robotic arm, a motorized stage, and a pneumatic pipetter. This module is being developed to automate …

Brain Computer Interfaces: Enhancing Low-Cost Eeg Performance Through Deep, Anwar Rassoul

Shelby Hall Graduate Research Forum Posters

The field of Brain Computer Interfacing (BCI) has traditionally been confined to clinical and research environments due to the high cost and complexity of medical-grade EEG systems. However, the emergence of low-cost hardware exemplified has catalyzed a shift toward accessible, portable BCI applications. While these devices lower the barrier to entry for developers and researchers, they often suffer from a lower signal-to-noise ratio (SNR). This increased noise makes it difficult to extract the clean neural signatures required for high-accuracy control, particularly when operating in non-shielded, real-world environments.

This research focuses on Steady-State Visually Evoked Potentials (SSVEP), a robust BCI paradigm …

Evolving Landscape Of Respiratory Infections And Amr In The Uae: A 12-Year Nationwide Study Of Regional Burden, Epidemiologic Trends And Policy Implications, Madikay Senghore, Jens Thomsen, Najiba M. Abdulrazzaq, Wei Chen, Eveline Kaambo, Stefan Weber, Fouzia Jabeen, Godfred Antony Menezes, Carole Ayoub Moubareck, Dean B. Everett, Abiola Senok

All Works

Objectives This study characterizes the epidemiological trends and resistance profiles of respiratory tract infections (RTIs) in the United Arab Emirates (UAE) from 2010 to 2022, aiming to inform national control strategies. Method We conducted a retrospective observational study of RTI cases across 345 UAE healthcare settings using data from the national surveillance network. Pathogen identification and resistance profiling were performed using advanced diagnostics and standardized antimicrobial susceptibility testing, in accordance with Clinical and Laboratory Standards Institute (CLSI) guidelines. Results Lower respiratory tract infections (LRI) comprised most cases (73.1%; n = 100,856), including 6416 due to Mycobacterium tuberculosis , while upper …

The Filamentous Ultrastructure Of The Popz Condensate Is Required For Its Cellular Function, Daniel Scholl, Tumara Boyd, Andrew P Latham, Alexandra Salazar, Asma M A M Khan, Steven Boeynaems, Alex S Holehouse, Gabriel C Lander, Andrej Sali, Donghyun Park, Ashok A Deniz, Keren Lasker

Duncan NRI Faculty and Staff Publications

Biomolecular condensates have key roles in regulating cellular processes. Yet, the relationship between atomic features and condensate function remains poorly understood. We studied this relationship using the polar organizing protein Z (PopZ). Here, we revealed hierarchical assembly of PopZ into a filamentous condensate by integrating cryo-electron tomography, biochemistry, single-molecule techniques and molecular dynamics simulations. The PopZ helical domain drives filamentation and condensation, while the disordered region inhibits them. Phase-dependent conformational changes prevent interfilament contacts in the dilute phase and expose client-binding sites in the dense phase. Perturbing filament formation in vitro alters the dynamics of scaffold and client proteins and …

Non-Synaptic Function And Localization Of Syntaxin-Binding Protein 1 In A Mouse Model Of Stxbp1-Related Epileptic Encephalopathy, Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar, Joo Hyun Kim, Wu Chen, Mingshan Xue, Alexey I Nesvizhskii, Michael D Uhler, Jack M Parent, Yu Wang

Duncan NRI Faculty and Staff Publications

Objective: De novo mutations in the syntaxin-binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders. Although STXBP1 has been proposed as a critical presynaptic protein controlling synaptic vesicle exocytosis, clinical phenotypes also suggest that its biological function could be more diverse.

Methods: The expression pattern of STXBP1 was studied using immunostaining in vitro and in vivo. Synaptosome isolation was performed to investigate the synaptic and non-synaptic localization of STXBP1 in the brain. STXBP1 immunoprecipitation followed by mass spectrometry (MS) was conducted to identify protein …

Age-Specific Concentrations And Seroprevalence Of Antibodies Against Salmonella Enteritidis (O:9) And Salmonella Typhimurium (O:4,5) Across Three Sites In Kenya., Esther Muthumbi, Sean Elias, Alfred Mwanzu, Agnes Mutiso, Perpetual Wanjiku, Cecilia Mbae, Godfrey Bigogo, Jennifer Verani, Stefan Flasche, Samuel Kariuki

Population Health, East Africa

Background Seroprevalence studies can indicate the age distribution of first infection with nontyphoidal Salmonella and estimate the rate of infection by age.

Method We collected 1254 paired samples of serum and stool from healthy children and adults in Kilifi, Nairobi, and Siaya counties in Kenya, areas of low, medium, and high incidence of invasive nontyphoidal Salmonella disease, respectively. We quantified the age- and site-specific geometric mean concentrations (GMCs) of IgG and IgA antibodies against S Enteritidis O-antigen (O:9, serogroup D) and S Typhimurium O-antigen (O:4,5, serogroup B) using an in-house standardized enzyme-linked immunosorbent assay. Serum concentrations were estimated against a …

Implementation And Acceptability Of A Community Based Intervention For Cervical Cancer Screening Amongst Women Of Reproductive Age In Kiambu County, Kenya, Redempta Mutisya, Eliphas Gitonga, Molly Maundu, Rosebella Iseme

Population Health, East Africa

Objective In Kenya, cervical cancer is the top cause of cancer deaths and second most prevalent cancer among women aged 15–44. Despite the existence of screening programs, only 13.8% of women participate, with nearly 50% diagnosed late. Lack of knowledge and embarrassment is linked to low uptake. Post-intervention, uptake of screening and acceptability of SMS prompts and self-sampling were evaluated.

Methods Women (18+ years), who had never screened, were randomly chosen from a pre-existing database. They received either usual care (notification of availability of screening services at public health facility), text education, or interactive in-person sessions with self-sample training.

Results …

Serotype-Specific Pneumococcal Invasiveness: A Global Meta-Analysis Of Paired Estimates Of Disease Incidence And Carriage Prevalence, Katherine Gallagher, Fredrick Odiwour, Christian Bottomley, John Ojal, Aisha Adamu, Esther Muthumbi, Eunice Kagucia, Laura Hammitt, Sergio Massora, Betuel Sigaúque

Population Health, East Africa

Background Serotype-specific estimates of pneumococcal invasiveness used in pneumococcal carriage transmission models to predict changes in disease incidence post-vaccination are largely derived from high-income settings. We conducted a systematic review of carriage prevalence and invasive pneumococcal disease (IPD) incidence to calculate case–carrier ratios (CCRs) in different income settings.

Methods We conducted a systematic search of MEDLINE, Embase, and Global Health databases on March 14, 2022, to identify publications on pneumococcal carriage prevalence or IPD incidence; we requested individual-level data from authors of relevant texts. Serotype-specific CCRs, calculated as IPD incidence divided by carriage prevalence, were pooled across settings using random …

Awarded Research Grants As A Pathway To Sustainable Development Goals, Maha Inam, Salim S. Virani, Melaine D'Cruze, Veronica Robi, Peter Gatiti, Anil Khamis

Population Health, East Africa

The United Nations Sustainable Development Goals (SDGs) are a set of global goals that provide an agenda for sustainable growth and development across all sectors and disciplines. However, the contribution of academic institutions from the developing world towards the SDGs has not received adequate attention from the scientific community. A review of all the awarded grants in 2022 and 2023 at an international academic institution was conducted. The objectives outlined in the grant proposals were used to map the SDGs accordingly. A quantitative frequency analysis was conducted to tabulate the results. A total of 293 grants obtained in 2022 and …

Pharmacokinetic Modeling Strategies For Dynamic Hyperpolarized Urea Imaging, Keith A Michel, Collin J Harlan, Christopher M Walker, Matthew E Merritt, Yunyun Chen, Stephen Y Lai, James A Bankson

Faculty, Staff and Student Publications

Purpose: To evaluate pharmacokinetic modeling methods for quantification of tissue perfusion/permeability with hyperpolarized 13C urea.

Methods: Three models for quantitative analysis of dynamic HP urea imaging data were proposed and evaluated in numerical simulations and a thyroid cancer mouse model. A multicompartment model resembling the extended Tofts model for DCE-MRI (Model I) and two simplified models were used. The simplified models each eliminate a volume parameter representing vascular (Model II) or impermeable cellular space (Model III). Signal curves were generated from Model I, and models were fit to these synthetic data to quantify the effects of acquisition settings, bias in …

Communicating Across Languages: Experiences Of Spanish-Speaking People With Dementia And Care Partners In The Emergency Department, Anita N Chary, Victor Lara, Sumin Yoon, Annika R Bhananker, Edgar Ordoñez, Michelle I Suh, Manish N Shah

Faculty, Staff and Students Publications

No abstract provided.

Validation And Longitudinal Trajectory Analysis Of An Ai-Based Ecg Model For Aortic Stenosis: From Community Screening To Pre-Ta\Vr Risk Stratification, Matthew W Segar, Kaleb D Lambeth, Alexander Postalian, Stephanie Coulter, Jasen Gilge, Naveed Razvi, Mohammad Saeed, Robert D Paisley, Ambarish Pandey, Mehdi Razavi

Faculty, Staff and Students Publications

Aims: Early aortic stenosis (AS) detection remains challenging, with many patients presenting late when left ventricular dysfunction may be irreversible. We evaluated whether longitudinal AI-enhanced ECG patterns can predict outcomes years before intervention and assessed the community screening potential of the AK-AVS model.

Methods and results: We conducted two complementary analyses: (1) community validation of the AK-AVS model in 3632 cardiovascular disease-free ARIC participants, and (2) longitudinal trajectory analysis of 7860 ECGs from 2040 TAVR recipients collected up to 10 years pre-procedure. Unsupervised clustering identified distinct AK-AVS trajectories, with mortality associations assessed using Cox regression and net reclassification improvement. In …

Sex Differences In Hospitalizations In The 6 Months Before A Diagnosis Of Transthyretin Amyloid Cardiomyopathy, Chun Shing Kwok, Adnan I Qureshi, Richard P Steeds, Gregg C Fonarow, Biykem Bozkurt, Marianna Fontana, Julian D Gillmore, William E Moody

Faculty, Staff and Students Publications

Background: The influence of sex on the extent of missed opportunities for early diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) has not been characterized.

Objectives: The objective of the study was to determine the rate and causes of hospitalization preceding the index admission with ATTR-CM, stratifying analyses according to sex.

Methods: We conducted a retrospective cohort study of the National Readmissions Database to evaluate the 6-month hospitalizations preceding an index admission with a diagnosis of ATTR-CM.

Results: Between 2018 and 2020, there were 10,975 patients hospitalized with ATTR-CM of whom 4,545 (41.1%) had 1 or more hospital admission within the preceding …

Rab4 Spatially And Functionally Converges With Rab7 In The Degradative Endolysosomal Network, Stephen M Farmer, Shiyu Xu, Yue Yu, Xin Ye, Haoyi Yang, Jing Cai, Beatriz Rios, Wen-Wen Lin, Daniela Covarrubias, Vicky Chuong, Lili Ye, German Zylberberg, Charissa Wang, Erin Furr-Stimming, Qingchun Tong, Oguz Kanca, Hugo J Bellen, Travis I Moore, Sheng Zhang

Faculty, Staff and Students Publications

Rab GTPases are key regulators of endosomal trafficking in eukaryotes. In mammalian cells, Rab4 and Rab7 were shown to localize to distinct compartments, with Rab4 on early endosomes for fast recycling and Rab7 on late endosomes for degradation. Here, we show that in Drosophila, endogenous Rab4 and Rab7 extensively colocalize across tissues and developmental stages. Recruited to the same compartments through mechanisms that do not require the activity of the other, they have opposing effects on endolysosomal size: Rab4 overexpression or Rab7 impairment leads to enlarged endolysosomes, whereas Rab4 loss or constitutively active Rab7 reduces their sizes. Rab4 deficiency suppresses …

Lonp1 Variants Are Associated With Clinically Diverse Phenotypes, Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Daryl A Scott, Tiana M Scott, Seema R Lalani, Mahshid S Azamian, Jill A Rosenfeld, Bret Bostwick, Lindsay C Burrage, Lance H Rodan, Bianca E Russell, Marina Dutra-Clarke, Michael Kruer, Somayeh Bakhtiarim, Hossein Darvish, David J Amor, Shamima Rahman, Karen Stals, Lisa Bradley, Susan Byrne, Leandra K Tolusso, Beatrix Wong, Laura Benedict, Kimberly Wallis, Kestutis Micke, Cindy Colson, Thomas Smol, Sabrina V Southwick, Kristen A Miller, Michelle L Kush, Odelia Chorin, Annick Rothschild, Wei Wang, Yufeng Shen, Wendy K Chung

Faculty, Staff and Students Publications

LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum. Structural mapping of disease-associated missense variants revealed phenotype-specific clustering, with CODAS variants enriched in the proteolytic chamber and NDD variants more broadly distributed. CODAS is caused by biallelic …