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Full-Text Articles in Medicine and Health Sciences

Stmnd1 Is A Phylogenetically Ancient Stathmin Which Localizes To Motile Cilia And Exhibits Nuclear Translocation That Is Inhibited When Soluble Tubulin Concentration Increases, Xiang Deng, Bryan O Seguinot, Gary Bradshaw, Jong Suk Lee, Shannon Coy, Marian Kalocsay, Sandro Santagata, Timothy Mitchison Jun 2024

Stmnd1 Is A Phylogenetically Ancient Stathmin Which Localizes To Motile Cilia And Exhibits Nuclear Translocation That Is Inhibited When Soluble Tubulin Concentration Increases, Xiang Deng, Bryan O Seguinot, Gary Bradshaw, Jong Suk Lee, Shannon Coy, Marian Kalocsay, Sandro Santagata, Timothy Mitchison

Faculty, Staff and Student Publications

Stathmins are small, unstructured proteins that bind tubulin dimers and are implicated in several human diseases, but whose function remains unknown. We characterized a new stathmin, STMND1 (Stathmin Domain Containing 1) as the human representative of an ancient subfamily. STMND1 features a N-terminal myristoylated and palmitoylated motif which directs it to membranes and a tubulin-binding stathmin-like domain (SLD) that contains an internal nuclear localization signal. Biochemistry and proximity labeling showed that STMND1 binds tubulin, and live imaging showed that tubulin binding inhibits translocation from cellular membranes to the nucleus. STMND1 is highly expressed in multiciliated epithelial cells, where it localizes …


A Bayesian Quasi-Likelihood Design For Identifying The Minimum Effective Dose And Maximum Utility Dose In Dose-Ranging Studies, Feng Tian, Ruitao Lin, Li Wang, Ying Yuan Jun 2024

A Bayesian Quasi-Likelihood Design For Identifying The Minimum Effective Dose And Maximum Utility Dose In Dose-Ranging Studies, Feng Tian, Ruitao Lin, Li Wang, Ying Yuan

Faculty, Staff and Student Publications

Most existing dose-ranging study designs focus on assessing the dose-efficacy relationship and identifying the minimum effective dose. There is an increasing interest in optimizing the dose based on the benefit-risk tradeoff. We propose a Bayesian quasi-likelihood dose-ranging design that jointly considers safety and efficacy to simultaneously identify the minimum effective dose and the maximum utility dose to optimize the benefit-risk tradeoff. The binary toxicity endpoint is modeled using a beta-binomial model. The efficacy endpoint is modeled using the quasi-likelihood approach to accommodate various types of data (e.g. binary, ordinal or continuous) without imposing any parametric assumptions on the dose-response curve. …


Adaptive Bayesian Information Borrowing Methods For Finding And Optimizing Subgroup-Specific Doses, Jingyi Zhang, Ruitao Lin, Xin Chen, Fangrong Yan Jun 2024

Adaptive Bayesian Information Borrowing Methods For Finding And Optimizing Subgroup-Specific Doses, Jingyi Zhang, Ruitao Lin, Xin Chen, Fangrong Yan

Faculty, Staff and Student Publications

In precision oncology, integrating multiple cancer patient subgroups into a single master protocol allows for the simultaneous assessment of treatment effects in these subgroups and promotes the sharing of information between them, ultimately reducing sample sizes and costs and enhancing scientific validity. However, the safety and efficacy of these therapies may vary across different subgroups, resulting in heterogeneous outcomes. Therefore, identifying subgroup-specific optimal doses in early-phase clinical trials is crucial for the development of future trials. In this article, we review various innovative Bayesian information-borrowing strategies that aim to determine and optimize subgroup-specific doses. Specifically, we discuss Bayesian hierarchical modeling, …


Salpingectomy For Ovarian Cancer Prevention: Video Education For The Surgeon, Emily Macarthur, Kara Long Roche, Joseph Sakran, Sunil H Patel, Peter Najjar, Karen H Lu, Megan Gornet, Anja S Frost, Meghan Walrath, Tom Bauer, Gyyong Oh, Rebecca Stone Jun 2024

Salpingectomy For Ovarian Cancer Prevention: Video Education For The Surgeon, Emily Macarthur, Kara Long Roche, Joseph Sakran, Sunil H Patel, Peter Najjar, Karen H Lu, Megan Gornet, Anja S Frost, Meghan Walrath, Tom Bauer, Gyyong Oh, Rebecca Stone

Faculty, Staff and Student Publications

Given the unremitting obstacles to effectively screen for and treat ovarian cancer (OC), prevention is a necessary countermeasure. The recent discovery of the fallopian tube as the origin of the most common and deadly type of OC, high grade serous cancer (HGSC), makes prevention through salpingectomy possible (Madsen et al., 2015). Opportunistic salpingectomy (OS) is the practice of removing the post-reproductive fallopian tubes at the time of other intraperitoneal surgery, or for sterilization in lieu of tubal ligation, to decrease OC risk (Falconer et al., 2015). The safety, effectiveness, and reach of OS as a primary prevention strategy depends on …


Cascade Genetic Testing: An Underutilized Pathway To Equitable Cancer Care?, Roni Nitecki Wilke, Erica M Bednar, Sara Pirzadeh-Miller, Sayoni Lahiri, Isabel C Scarinci, Charles A Leath Iii, Melissa K Frey, Karen H Lu, J Alejandro Rauh-Hain Jun 2024

Cascade Genetic Testing: An Underutilized Pathway To Equitable Cancer Care?, Roni Nitecki Wilke, Erica M Bednar, Sara Pirzadeh-Miller, Sayoni Lahiri, Isabel C Scarinci, Charles A Leath Iii, Melissa K Frey, Karen H Lu, J Alejandro Rauh-Hain

Faculty, Staff and Student Publications

The Precision Medicine Initiative was launched upon the potential of genomic information to tailor medical care. Cascade genetic testing represents a powerful application of precision medicine and involves the process of familial diffusion or the "cascade" of genomic risk information. When an individual (proband) is found to carry a cancer-associated germline pathogenic mutation, the information should be cascaded or shared with at-risk relatives. First degree relatives have a 50% likelihood of carrying the same cancer-associated mutation. This process of cascade testing offers at-risk relatives the opportunity for genetic testing and, for those who also carry the cancer-associated mutation, genetically targeted …


Forecasting Acute Kidney Injury And Resource Utilization In Icu Patients Using Longitudinal, Multimodal Models, Yukun Tan, Merve Dede, Vakul Mohanty, Jinzhuang Dou, Holly Hill, Elmer Bernstam, Ken Chen Jun 2024

Forecasting Acute Kidney Injury And Resource Utilization In Icu Patients Using Longitudinal, Multimodal Models, Yukun Tan, Merve Dede, Vakul Mohanty, Jinzhuang Dou, Holly Hill, Elmer Bernstam, Ken Chen

Faculty, Staff and Student Publications

Background: Advances in artificial intelligence (AI) have realized the potential of revolutionizing healthcare, such as predicting disease progression via longitudinal inspection of Electronic Health Records (EHRs) and lab tests from patients admitted to Intensive Care Units (ICU). Although substantial literature exists addressing broad subjects, including the prediction of mortality, length-of-stay, and readmission, studies focusing on forecasting Acute Kidney Injury (AKI), specifically dialysis anticipation like Continuous Renal Replacement Therapy (CRRT) are scarce. The technicality of how to implement AI remains elusive.

Objective: This study aims to elucidate the important factors and methods that are required to develop effective predictive models of …


Developing A Computational Representation Of Human Physical Activity And Exercise Using Open Ontology-Based Approach: A Tai Chi Use Case, Eloisa Nguyen, Rebecca Z Lin, Yang Gong, Cui Tao, Muhammad Tuan Amith Jun 2024

Developing A Computational Representation Of Human Physical Activity And Exercise Using Open Ontology-Based Approach: A Tai Chi Use Case, Eloisa Nguyen, Rebecca Z Lin, Yang Gong, Cui Tao, Muhammad Tuan Amith

Faculty, Staff and Student Publications

Many studies have examined the impact of exercise and other physical activities in influencing the health outcomes of individuals. These physical activities entail an intricate sequence and series of physical anatomy, physiological movement, movement of the anatomy, etc. To better understand how these components interact with one another and their downstream impact on health outcomes, there needs to be an information model that conceptualizes all entities involved. In this study, we introduced our early development of an ontology model to computationally describe human physical activities and the various entities that compose each activity. We developed an open-sourced biomedical ontology called …


Hypofractionated Radiotherapy For Glioblastoma: A Large Institutional Retrospective Assessment Of 2 Approaches, Thomas H Beckham, Michael K Rooney, Mary F Mcaleer, Amol J Ghia, Martin C Tom, Subha Perni, Susan Mcgovern, David Grosshans, Caroline Chung, Chenyang Wang, Brain De, Todd Swanson, Arnold Paulino, Wen Jiang, Sherise Ferguson, Chirag B Patel, Jing Li, Debra N Yeboa Jun 2024

Hypofractionated Radiotherapy For Glioblastoma: A Large Institutional Retrospective Assessment Of 2 Approaches, Thomas H Beckham, Michael K Rooney, Mary F Mcaleer, Amol J Ghia, Martin C Tom, Subha Perni, Susan Mcgovern, David Grosshans, Caroline Chung, Chenyang Wang, Brain De, Todd Swanson, Arnold Paulino, Wen Jiang, Sherise Ferguson, Chirag B Patel, Jing Li, Debra N Yeboa

Faculty, Staff and Student Publications

Background: Glioblastoma (GBM) poses therapeutic challenges due to its aggressive nature, particularly for patients with poor functional status and/or advanced disease. Hypofractionated radiotherapy (RT) regimens have demonstrated comparable disease outcomes for this population while allowing treatment to be completed more quickly. Here, we report our institutional outcomes of patients treated with 2 hypofractionated RT regimens: 40 Gy/15fx (3w-RT) and 50 Gy/20fx (4w-RT).

Methods: A single-institution retrospective analysis was conducted of 127 GBM patients who underwent 3w-RT or 4w-RT. Patient characteristics, treatment regimens, and outcomes were analyzed. Univariate and multivariable Cox regression models were used to estimate progression-free survival (PFS) and …


A New Computed Tomography Score-Based Staging For Melioidosis Pneumonia To Predict Progression, Yang Chen, Dehuai He, Yehua Wu, Xiangying Li, Kaifu Yang, Yuefu Zhan, Jianqiang Chen, Xiaobo Zhou Jun 2024

A New Computed Tomography Score-Based Staging For Melioidosis Pneumonia To Predict Progression, Yang Chen, Dehuai He, Yehua Wu, Xiangying Li, Kaifu Yang, Yuefu Zhan, Jianqiang Chen, Xiaobo Zhou

Faculty, Staff and Student Publications

infectious disease prevalent in tropical regions. Chest computed tomography (CT) has emerged as a valuable tool for assessing the severity and progression of lung involvement in melioidosis pneumonia. However, there persists a need for the quantitative assessment of CT characteristics and staging methodologies to precisely anticipate disease progression. This study aimed to quantitatively extract CT features and evaluate a CT score-based staging system in predicting the progression of melioidosis pneumonia.

Methods: This study included 97 patients with culture-confirmed melioidosis pneumonia who presented between January 2002 and December 2021. Lung segmentation and annotation of lesions (consolidation, nodules, and cavity) were used …


Clinical Information Retrieval: A Literature Review, Sonish Sivarajkumar, Haneef Ahamed Mohammad, David Oniani, Kirk Roberts, William Hersh, Hongfang Liu, Daqing He, Shyam Visweswaran, Yanshan Wang Jun 2024

Clinical Information Retrieval: A Literature Review, Sonish Sivarajkumar, Haneef Ahamed Mohammad, David Oniani, Kirk Roberts, William Hersh, Hongfang Liu, Daqing He, Shyam Visweswaran, Yanshan Wang

Faculty, Staff and Student Publications

UNLABELLED: Clinical information retrieval (IR) plays a vital role in modern healthcare by facilitating efficient access and analysis of medical literature for clinicians and researchers. This scoping review aims to offer a comprehensive overview of the current state of clinical IR research and identify gaps and potential opportunities for future studies in this field. The main objective was to assess and analyze the existing literature on clinical IR, focusing on the methods, techniques, and tools employed for effective retrieval and analysis of medical information. Adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we conducted an …


Performance Analysis Of Hybrid Deep Learning Framework Using A Vision Transformer And Convolutional Neural Network For Handwritten Digit Recognition, Vanita Agrawal, Jayant Jagtap, Shruti Patil, Ketan Kotecha Jun 2024

Performance Analysis Of Hybrid Deep Learning Framework Using A Vision Transformer And Convolutional Neural Network For Handwritten Digit Recognition, Vanita Agrawal, Jayant Jagtap, Shruti Patil, Ketan Kotecha

Faculty, Staff and Student Publications

Digitization created a demand for highly efficient handwritten document recognition systems. A handwritten document consists of digits, text, symbols, diagrams, etc. Digits are an essential element of handwritten documents. Accurate recognition of handwritten digits is vital for effective communication and data analysis. Various researchers have attempted to address this issue with modern convolutional neural network (CNN) techniques. Even after training, CNN filter weights remain unchanged despite the high identification accuracy. As a result, the process cannot flexibly adapt to input changes. Hence computer vision researchers have recently become interested in Vision Transformers (ViTs) and Multilayer Perceptrons (MLPs). The shortcomings of …


Man With Chest Pain, Fever, And Surprising Finding On Bedside Ultrasound, Omoyeni O Clement, Benjamin L Cooper Jun 2024

Man With Chest Pain, Fever, And Surprising Finding On Bedside Ultrasound, Omoyeni O Clement, Benjamin L Cooper

Faculty, Staff and Student Publications

No abstract provided.


Why Do Cochlear Implant Candidates Defer Surgery? A Retrospective Case-Control Study, Masanari G Kato, Vivian F Kaul, Diana Hallak, Lisa Zhang, Aaron C Moberly, Yin Ren Jun 2024

Why Do Cochlear Implant Candidates Defer Surgery? A Retrospective Case-Control Study, Masanari G Kato, Vivian F Kaul, Diana Hallak, Lisa Zhang, Aaron C Moberly, Yin Ren

Faculty, Staff and Student Publications

Objective(s): Despite undergoing thorough cochlear implant (CI) candidacy evaluation and counseling, some patients ultimately elect against implantation. This study sought to identify patient-related and socioeconomic factors predicting CI deferral.

Methods: A retrospective study of adult (≥18 years old) CI candidates presenting between 2007 and 2021 at a tertiary academic CI center was performed. The primary outcome was device implantation. Data collected included age, gender, hearing status, race, zip code of residence, median family income (MFI), distance traveled from the CI center, marital status, employment status, and insurance status. Multivariable binary logistic regression was performed to identify predictors of implantation.

Results: …


Closure Of Dialysis Clinics In The United States In 2021-2023, Kamyar Kalantar-Zadeh, Dawn P Edwards, David Henner, Daniel L Landry, Donald A Molony, Preethi Yerram, On Behalf Of The Medical Advisory Council Of The National Forum Of Esrd Networks Jun 2024

Closure Of Dialysis Clinics In The United States In 2021-2023, Kamyar Kalantar-Zadeh, Dawn P Edwards, David Henner, Daniel L Landry, Donald A Molony, Preethi Yerram, On Behalf Of The Medical Advisory Council Of The National Forum Of Esrd Networks

Faculty, Staff and Student Publications

No abstract provided.


Variations In Trochlear Morphology Of Contemporary And Legacy Total Knee Arthroplasty Prostheses: A Review Of 22 Designs, Nikhil Gattu, Marriah Sutton, David B Doherty, Nicholas D Lanfermeijer, David Rodriguez-Quintana, Sabir K Ismaily, Camryn A Pletka, Philip C Noble, Shuyang Han Jun 2024

Variations In Trochlear Morphology Of Contemporary And Legacy Total Knee Arthroplasty Prostheses: A Review Of 22 Designs, Nikhil Gattu, Marriah Sutton, David B Doherty, Nicholas D Lanfermeijer, David Rodriguez-Quintana, Sabir K Ismaily, Camryn A Pletka, Philip C Noble, Shuyang Han

Faculty, Staff and Student Publications

Background: The morphology of the trochlear compartment of total knee arthroplasty (TKA) prostheses is a major determinant of postoperative patello-femoral kinematics, particularly with unresurfaced patellae. The objective of this study was to quantify and compare the trochlear morphology of a large series of contemporary and legacy TKA designs.

Methods: The 3-dimensional surface models of 22 femoral components (13 contemporary and 9 legacy) were created using high-resolution laser scanning. The trochlear profile of each component was analyzed from proximal to distal in 15° increments around the trochlear axis. In each profile, the following variables were measured: sulcus angle, medio-lateral deviation of …


Development Of An Antioxidant-Rich Sugar-Free Plantain Candy And Assessment Of Its Shelf Life In A Flexible Laminate, Poulami Sarkar, Paramita Bhattacharjee, Bidhan Das Jun 2024

Development Of An Antioxidant-Rich Sugar-Free Plantain Candy And Assessment Of Its Shelf Life In A Flexible Laminate, Poulami Sarkar, Paramita Bhattacharjee, Bidhan Das

Faculty, Staff and Student Publications

RESEARCH BACKGROUND: Candy is a popular confection worldwide, and it would be beneficial to society if it were converted into a source of antioxidant molecules to eliminate its adverse health effects. The amount of antioxidants available even in fruit candies is questionable due to the high thermal processing losses they undergo and the presence of various food additives. Plantains (

EXPERIMENTAL APPROACH: To accomplish the first objective, lyophilized plantain powder, sorbitol and mannitol were used as base materials with minimal additives under minimal processing conditions to reduce processing loss. Sensory, proximate, physicochemical and phytochemical properties, including the antioxidant synergy among …


Trends In Shortages Of Lead Chelators From 2001 To 2022, James D Whitledge, Pelayia Soto, Kieran M Glowacki, Diane P Calello, Erin R Fox, Maryann Mazer-Amirshahi Jun 2024

Trends In Shortages Of Lead Chelators From 2001 To 2022, James D Whitledge, Pelayia Soto, Kieran M Glowacki, Diane P Calello, Erin R Fox, Maryann Mazer-Amirshahi

Faculty, Staff and Student Publications

OBJECTIVE: The study aims to describe drug shortages affecting lead chelators in the United States from 2001 through 2022.

METHODS: Drug shortage data were retrieved from the University of Utah Drug Information Service from January 1, 2001, through December 31, 2022. Shortages of first- and second-line lead chelators were analyzed. Drug class, formulation, administration route, shortage reason, shortage duration, generic status, single-source status, and presence of temporally overlapping shortages were examined. Total shortage months, percentages of study period on shortage, and median shortage durations were calculated.

RESULTS: Thirteen lead chelator shortages were reported during the study period. Median duration was …


Preventative Treatment Of Tuberous Sclerosis Complex With Sirolimus: Phase I Safety And Efficacy Results, Jamie K Capal, David M Ritter, David Neal Franz, Molly Griffith, Kristn Currans, Bridget Kent, E Martina Bebin, Hope Northrup, Mary Kay Koenig, Tomoyuki Mizuno, Alexander A Vinks, Stephanie L Galandi, Wujuan Zhang, Kenneth D R Setchell, Kelly M Kremer, Carlos M Prada, Hansel M Greiner, Katherine Holland-Bouley, Paul S Horn, Darcy A Krueger Jun 2024

Preventative Treatment Of Tuberous Sclerosis Complex With Sirolimus: Phase I Safety And Efficacy Results, Jamie K Capal, David M Ritter, David Neal Franz, Molly Griffith, Kristn Currans, Bridget Kent, E Martina Bebin, Hope Northrup, Mary Kay Koenig, Tomoyuki Mizuno, Alexander A Vinks, Stephanie L Galandi, Wujuan Zhang, Kenneth D R Setchell, Kelly M Kremer, Carlos M Prada, Hansel M Greiner, Katherine Holland-Bouley, Paul S Horn, Darcy A Krueger

Faculty, Staff and Student Publications

Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

Methods: We conducted a phase 1 clinical trial of sirolimus, treating five patients until 12 months of age. Enrolled infants had to be younger than 6 months of age with no history of seizures and no clinical indication for sirolimus treatment. Adverse events (AEs), tolerability, and blood concentrations of sirolimus measured by …


Pegvaliase For The Treatment Of Phenylketonuria: Final Results Of A Long-Term Phase 3 Clinical Trial Program, Cary O Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A Thomas, Jerry Vockley, Roberto T Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G Levy, Shaun Jones, Barbara K Burton Jun 2024

Pegvaliase For The Treatment Of Phenylketonuria: Final Results Of A Long-Term Phase 3 Clinical Trial Program, Cary O Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A Thomas, Jerry Vockley, Roberto T Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G Levy, Shaun Jones, Barbara K Burton

Faculty, Staff and Student Publications

Phenylketonuria (PKU) is a genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase (PAH), which results in phenylalanine (Phe) accumulation in the blood and brain, and requires lifelong treatment to keep blood Phe in a safe range. Pegvaliase is an enzyme-substitution therapy approved for individuals with PKU and uncontrolled blood Phe concentrations (>600 μmol/L) despite prior management. Aggregated results from the PRISM clinical trials demonstrated substantial and sustained reductions in blood Phe with a manageable safety profile, but also noted individual variation in time to and dose needed for a first response. This analysis reports longer-term aggregate findings …


Open Tibial Shaft Fracture Fixation Strategies: Intramedullary Nailing, External Fixation, And Plating, Michelle Shen, Nirmal Tejwani Jun 2024

Open Tibial Shaft Fracture Fixation Strategies: Intramedullary Nailing, External Fixation, And Plating, Michelle Shen, Nirmal Tejwani

Faculty, Staff and Student Publications

Tibial shaft fractures are one of the most common orthopaedic injuries. Open tibial shaft fractures are relatively common because of the paucity of soft tissue surrounding the bone. Despite the prevalence of these injuries, the optimal fixation strategy is still a topic of debate. The purpose of this article was to review the current literature on open tibial shaft fracture fixation strategies including intramedullary nailing, external fixation, and plating.


Insurance Coverage During Transitions: Evidence From Medicaid Automatic Enrollment For Children Receiving Supplemental Security Income, Stephanie Rennane, Danielle Sobol, Bradley D Stein, Andrew Dick Jun 2024

Insurance Coverage During Transitions: Evidence From Medicaid Automatic Enrollment For Children Receiving Supplemental Security Income, Stephanie Rennane, Danielle Sobol, Bradley D Stein, Andrew Dick

Faculty, Staff and Student Publications

OBJECTIVES: To analyze relationships between Medicaid automatic enrollment for child Supplemental Security Income (SSI) recipients and health insurance coverage during transitions.

DATA SOURCES AND STUDY SETTING: Medical Expenditure Panel Study, 2000-2020 and National Survey for Children with Special Health Care Needs, 2001-2010.

STUDY DESIGN: Leveraging variation in SSI-Medicaid automatic enrollment status across regions and over time, we estimate a regression model to quantify associations between automatic enrollment and insurance coverage. We validate our findings in the NS-CSHCN.

DATA COLLECTION: Our sample includes children receiving SSI for a disability. We also analyze a subsample of children newly enrolled in SSI.

PRINCIPAL …


The Unusual Substrate Specificity Of Escherichia Coli Cardiolipin Synthase C Does Not Require The Product Of The Transcriptionally Engaged Ymdb Gene, Katsuhiro Sawasato, Mikhail Bogdanov Jun 2024

The Unusual Substrate Specificity Of Escherichia Coli Cardiolipin Synthase C Does Not Require The Product Of The Transcriptionally Engaged Ymdb Gene, Katsuhiro Sawasato, Mikhail Bogdanov

Faculty, Staff and Student Publications

Polycistronic transcription and translation of ymdB-clsC have been thought to be required for full activity of ClsC. The authentic initiation codon of the clsC gene is present within the open reading frame of the upstream located ymdB gene. ClsC translated from authentic initiation codon drives cardiolipin (CL) synthesis without transcriptionally paired YmdB. YmdB is not necessary for the substrate specificity of ClsC utilizing phosphatidylethanolamine (PE) as a co-substrate.


A Novel Missense Variant Located Within The Zinc Finger Domain Of The Gli3 Gene Was Identified In A Vietnamese Pedigree With Index Finger Polydactyly, Thy Ngoc Nguyen, Giang Son Tran, Hai Duc Hoang, Long Giang Nguyen Jun 2024

A Novel Missense Variant Located Within The Zinc Finger Domain Of The Gli3 Gene Was Identified In A Vietnamese Pedigree With Index Finger Polydactyly, Thy Ngoc Nguyen, Giang Son Tran, Hai Duc Hoang, Long Giang Nguyen

Faculty, Staff and Student Publications

BACKGROUND: Polydactyly, particularly of the index finger, remains an intriguing anomaly for which no specific gene or locus has been definitively linked to this phenotype. In this study, we conducted an investigation of a three-generation family displaying index finger polydactyly.

METHODS: Exome sequencing was conducted on the patient, with a filtration to identify potential causal variation. Validation of the obtained variant was conducted by Sanger sequencing, encompassing all family members.

RESULTS: Exome analysis uncovered a novel heterozygous missense variant (c.1482A>T; p.Gln494His) at the zinc finger DNA-binding domain of the GLI3 protein within the proband and all affected family members. …


Common Epilepsy Variants From The General Population Are Not Associated With Epilepsy Among Individuals With Tuberous Sclerosis Complex, Melissa A Richard, Philip J Lupo, Erik A Ehli, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Elizabeth M Bebin, Kit Sing Au, Hope Northrup, Laura S Farach Jun 2024

Common Epilepsy Variants From The General Population Are Not Associated With Epilepsy Among Individuals With Tuberous Sclerosis Complex, Melissa A Richard, Philip J Lupo, Erik A Ehli, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Elizabeth M Bebin, Kit Sing Au, Hope Northrup, Laura S Farach

Faculty, Staff and Student Publications

Common genetic variants identified in the general population have been found to increase phenotypic risks among individuals with certain genetic conditions. Up to 90% of individuals with tuberous sclerosis complex (TSC) are affected by some type of epilepsy, yet the common variants contributing to epilepsy risk in the general population have not been evaluated in the context of TSC-associated epilepsy. Such knowledge is important to help uncover the underlying pathogenesis of epilepsy in TSC which is not fully understood, and critical as uncontrolled epilepsy is a major problem in this population. To evaluate common genetic modifiers of epilepsy, our study …


Incidence And Factors In Delayed Neurological Deficits After Subarachnoid Hemorrhage In Mice, William Wroe, Ari Dienel, Sungha Hong, Kanako Matsumura, Jose Guzman, Kiara Torres, Angelica Bernal, Hussein A Zeineddine, Peeyush Thankamani Pandit, Spiros L Blackburn, Devin W Mcbride Jun 2024

Incidence And Factors In Delayed Neurological Deficits After Subarachnoid Hemorrhage In Mice, William Wroe, Ari Dienel, Sungha Hong, Kanako Matsumura, Jose Guzman, Kiara Torres, Angelica Bernal, Hussein A Zeineddine, Peeyush Thankamani Pandit, Spiros L Blackburn, Devin W Mcbride

Faculty, Staff and Student Publications

Background: Delayed cerebral ischemia (DCI) is one of the most feared complications in aneurysmal subarachnoid hemorrhage (SAH). Animal models are crucial to studying the disease mechanisms and potential treatments. DCI in rodents was thought to not exist; herein we examine literature and our experience with DCI in rodents.

Methods: Daily behavioral performance was assessed every day from day 1 to up to 7 days post-SAH on mice from 5 different studies that used the endovascular perforation model. Performance was graded using an 8-test sensorimotor neuroscore previously described. The daily neuroscore was then used to identify the incidence and timing of …


Characterization Of Disease Burden, Treatment And Comorbidities In A Large, Real-World Cohort Of Patients With Atopic Dermatitis: The Corevitas Atopic Dermatitis Registry, Jonathan I Silverberg, Angel Cronin, Eric A Jones, Swapna S Dave, Robert R Mclean, Jeffrey Greenberg, Bruce Strober, Thomas Bieber, Melinda Gooderham, Amy S Paller, Eric L Simpson Jun 2024

Characterization Of Disease Burden, Treatment And Comorbidities In A Large, Real-World Cohort Of Patients With Atopic Dermatitis: The Corevitas Atopic Dermatitis Registry, Jonathan I Silverberg, Angel Cronin, Eric A Jones, Swapna S Dave, Robert R Mclean, Jeffrey Greenberg, Bruce Strober, Thomas Bieber, Melinda Gooderham, Amy S Paller, Eric L Simpson

Faculty, Staff and Student Publications

No abstract provided.


Confirmation And Inheritance Of Glufosinate Resistance In An Amaranthus Palmeri Population From North Carolina, Eric A L Jones, Jeffrey C Dunne, Charles W Cahoon, Katherine M Jennings, Ramon G Leon, Wesley J Everman Jun 2024

Confirmation And Inheritance Of Glufosinate Resistance In An Amaranthus Palmeri Population From North Carolina, Eric A L Jones, Jeffrey C Dunne, Charles W Cahoon, Katherine M Jennings, Ramon G Leon, Wesley J Everman

Faculty, Staff and Student Publications

A putative glufosinate‐resistant Amaranthus palmeri population was reported in 2015 in Anson County, North Carolina. The results from dose–response assays conducted in the field suggested plants were surviving lethal rates of glufosinate. Dose–response assays conducted in the glasshouse determined the Anson County accession exhibited reduced susceptibility to glufosinate compared to three glufosinate‐susceptible populations. The LD50 values (210–316 g ai ha−1) for the Anson County population were always higher than the LD50 values (118–158 g ai ha−1) for the tested susceptible populations from the dose–response assays. Anson County plants that survived lethal glufosinate rates were reciprocally crossed with susceptible plants to …


Total Hip Arthroplasty With Subtrochanteric Osteotomy For Crowe Iv Dysplasia Using An Extensile Direct Anterior Approach: A Surgical Technique, Brian T Muffly, Erik M Hegeman, Braden E Hartline, Keerat Singh, Ajay Premkumar, George N Guild Jun 2024

Total Hip Arthroplasty With Subtrochanteric Osteotomy For Crowe Iv Dysplasia Using An Extensile Direct Anterior Approach: A Surgical Technique, Brian T Muffly, Erik M Hegeman, Braden E Hartline, Keerat Singh, Ajay Premkumar, George N Guild

Faculty, Staff and Student Publications

The direct anterior approach (DAA) has been increasing in popularity for primary total hip arthroplasty (THA). Despite previously documented anatomic limitations to its direct distal extension, alternative exposure methods have been described to safely access the femoral diaphysis and facilitate increasingly complex primary and revision THA scenarios. The DAA has several purported advantages compared to alternative approaches (eg, posterior and lateral-based), including its muscle-sparing nature, use of an internervous plane, and preservation of posterior stabilizing structures. Proponents of the DAA cite decreased postoperative pain, quicker recovery times, potentially lower dislocation rates, ease of intraoperative fluoroscopy, and improved implant placement/restoration of …


Management Of Aortoesophageal Fistula Primarily Using Esophageal Preservation, Alexander Mills, Akiko Tanaka, Ashley Dawson, Robert Hetz, Holly Smith, Michael Lopez, Hazim Safi, Anthony Estrera Jun 2024

Management Of Aortoesophageal Fistula Primarily Using Esophageal Preservation, Alexander Mills, Akiko Tanaka, Ashley Dawson, Robert Hetz, Holly Smith, Michael Lopez, Hazim Safi, Anthony Estrera

Faculty, Staff and Student Publications

Objective: Aortoesophageal fistula is a rare, life-threatening condition. There is no consensus regarding the surgical management of the esophagus in this condition.

Methods: We retrospectively evaluated 13 patients diagnosed with aortoesophageal fistulas at a single institution from 2003 to 2021. Descriptive statistics were used to analyze patient characteristics, operative characteristics, and patient outcomes. Kaplan-Meier survival analysis was performed.

Results: Patients' mean age was 63.5 years, and 6 (46.2%) were female. The most common presenting symptoms were hemoptysis/hematemesis (69.2%), chest/back pain (46.2%), and fever (38.5%). Twelve patients (92.3%) had a history of aortic procedures. The median time between the index operation …


Adverse Pregnancy Outcomes And Long-Term Mortality In Women, Casey Crump, Jan Sundquist, Kristina Sundquist Jun 2024

Adverse Pregnancy Outcomes And Long-Term Mortality In Women, Casey Crump, Jan Sundquist, Kristina Sundquist

Faculty, Staff and Student Publications

Importance: Women with adverse pregnancy outcomes, such as preterm delivery or preeclampsia, have higher future risks of cardiometabolic disorders; however, little is known about their long-term mortality risks. A better understanding of such risks is needed to facilitate early identification of high-risk women and preventive actions.

Objective: To determine long-term mortality risks associated with 5 major adverse pregnancy outcomes in a large population-based cohort of women.

Design, setting, and participants: This national cohort study in Sweden used the Swedish Medical Birth Register, containing prenatal and birth information for nearly all deliveries in Sweden since 1973, to identify women who had …