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2024

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Articles 541 - 570 of 596

Full-Text Articles in Biomedical Engineering and Bioengineering

Multi-Magnetic Material Transcranial Magnetic Stimulation Coils Development And Electric Field Measurement & Modeling Using Machine Learning, Mohannad Tashli Jan 2024

Multi-Magnetic Material Transcranial Magnetic Stimulation Coils Development And Electric Field Measurement & Modeling Using Machine Learning, Mohannad Tashli

Theses and Dissertations

Transcranial Magnetic Stimulation (TMS) is a safe, effective, and non-invasive therapy for treating several psychiatric and neurological disorders. TMS is Food and Drug Administration (FDA) approved treatment and is commonly applied to patients who do not respond to medications for the treatment of clinical depression, smoking cessation, obsessive-compulsive disorder and migraine. Recently, there has been an increase in the development of electromagnetic neuromodulation techniques targeted at enhancing the effectiveness of TMS devices for the treatment of mental diseases. In TMS stimulation, focality is an important factor which determines the specificity of the pulses induced in different brain tissues. The electromagnetic …


Muscle-Nerve Signaling And Its Role In Myogenesis, Synaptogenesis, And Regeneration, James T. Redden Jan 2024

Muscle-Nerve Signaling And Its Role In Myogenesis, Synaptogenesis, And Regeneration, James T. Redden

Theses and Dissertations

Despite only comprising 0.1% of the myofiber surface area, a healthy motor endplate is densely packed with acetylcholine receptors (AChRs) responsible for mediating activity between the connected motor neuron and skeletal muscle via the neurotransmitter, acetylcholine. Loss of the endplate, known as fragmentation, is caused by car crashes, deep lacerations, and other traumatic injuries to the innervating nerve or direct injuries to the limb muscle(s) with intramuscular denervation as a common comorbidity. In both cases, endplate fragmentation begins within a week of injury proceeding muscle atrophy causing decreased mobility, paralysis, and quality of life. Endplate fragmentation of intact muscle fibers …


T Cell Polarization Regulates The Inflammatory Response And Tissue Regeneration At The Peri-Implant Interface, Derek Avery Jan 2024

T Cell Polarization Regulates The Inflammatory Response And Tissue Regeneration At The Peri-Implant Interface, Derek Avery

Theses and Dissertations

Unresolved healing and localized chronic inflammation are common occurrences after biomaterial implantation, resulting in unfavorable clinical outcomes such as implant failure or fibrous encapsulation. T cells are adaptive immune cells found in lymph nodes, thymus, spleen, bone marrow, and around biomaterials, significantly impacting the degree of inflammation and wound healing. T cells are vital for inflammatory cytokine production and modulation of innate immune cells, including neutrophils and macrophages. T cells can be differentiated into two primary subsets, CD4+ and CD8+ T cells, playing distinctive roles in various pathologies and disease states. While T cells have been characterized well …


An Optical Aptamer-Based Carbon Nanosensor For Cortisol Detection, Jessica Kretli Zanetti Jan 2024

An Optical Aptamer-Based Carbon Nanosensor For Cortisol Detection, Jessica Kretli Zanetti

Dissertations and Theses

Cortisol is a hormone related to numerous biological functions. This hormone is primarily associated with regulating the body’s stress response, including its effects on metabolism, immune function, and energy balance. Additionally, it plays a critical role in maintaining physiological homeostasis during periods of physical or psychological stress. Consequently, it is critical to monitor levels of this hormone to understand different vital processes it can impact. This work presents the development of an optical aptamer-based carbon nanosensor for the detection of cortisol. The sensor utilizes single-walled carbon nanotubes (SWCNTs) functionalized with a specific DNA aptamer to achieve high specificity and sensitivity. …


Using Mechanical Interventions To Enhance Drug Transport To Bone Tumors, Michelle Gelbs Jan 2024

Using Mechanical Interventions To Enhance Drug Transport To Bone Tumors, Michelle Gelbs

Dissertations and Theses

Bone metastasis occurs when cancer cells spread from a primary site to a secondary location in bone. Current treatments for metastatic bone tumors typically involve systemic chemotherapy, bisphosphonates, radiotherapy, or surgery; however, due to morphological changes in the tumor microenvironment and elevated interstitial fluid pressure, tissue penetration of therapeutic agents is often more limited in cancerous tumors compared to normal tissue. Weight-bearing mechanical loading applied to bone, as well as other mechanical stimulations such as vibration, have been shown to cause loading-induced bone deformations that increase convective transport via interstitial fluid flow. We hypothesize that mechanical loading can increase the …


Optimizing Transcranial Focused Ultrasound: Calibration, Neuro Navigation, And Bold Fmri Evidence Of Neuromodulation, Amilcar J. Malave Jan 2024

Optimizing Transcranial Focused Ultrasound: Calibration, Neuro Navigation, And Bold Fmri Evidence Of Neuromodulation, Amilcar J. Malave

Dissertations and Theses

This thesis presents the development, calibration, and initial implementation of transcranial focused ultrasound (tFUS) for neuromodulation in a human study. The primary objectives were to design a system capable of delivering precise and safe ultrasound stimulation to targeted brain regions and to conduct preliminary trials to assess its effects on brain activity. A custom calibration device was developed to ensure accurate measurement of acoustic pressure, addressing challenges such as voltage alterations caused by changes in system impedance. Additionally, a neuro-navigation tool was created to facilitate precise targeting of the right subgenual anterior cingulate cortex (right sgACC), enabling accurate placement of …


Modulation Of Motor Learning With High-Intensity Transcranial Electric Stimulation, Gavin Hsu Jan 2024

Modulation Of Motor Learning With High-Intensity Transcranial Electric Stimulation, Gavin Hsu

Dissertations and Theses

Research thus far on noninvasive, transcranial electric stimulation have produced mixed results from in vivo human experiments. This work tests the hypothesis that applying higher stimulation intensities would induce intracranial electric fields that more closely match the higher magnitudes used in animal and in vitro studies and subsequently yield more robust effects. As done commonly in the literature, we targeted the motor cortex (M1), specifically in the context of neuroplastic changes taking place during motor learning in healthy adult humans. This work also seeks a better understanding of the neural correlates underlying motor skill learning.

Through multiple large-sample studies, this …


Mechanisms For Regenerative Intervertebral Disc Healing During Early Growth In Mice, Danielle N. D'Erminio Jan 2024

Mechanisms For Regenerative Intervertebral Disc Healing During Early Growth In Mice, Danielle N. D'Erminio

Dissertations and Theses

Annulus Fibrosus (AF) defects of intervertebral discs (IVDs) cause painful disability, for example when herniated tissue compresses against adjacent nerves. Discectomy, the current standard of treatment to address herniation, does not repair AF defects and can result in re-herniation and recurrent pain. As such there is a need for improved AF repair strategies. It has previously been established that neonatal mice functionally regenerate following severe AF injury providing a model of successful innate AF repair processes that contrasts the poor healing of adult mice. This dissertation focuses on identifying mechanisms of AF regenerative healing in neonatal mice subjected to severe …


Development Of Glutathione-Responsive Disulfide-Containing Poly(Beta-Amino Esters) With Varied Hydrophilicity And Acrylate Functionality, Anastasiia Aronova Jan 2024

Development Of Glutathione-Responsive Disulfide-Containing Poly(Beta-Amino Esters) With Varied Hydrophilicity And Acrylate Functionality, Anastasiia Aronova

Theses and Dissertations--Chemical and Materials Engineering

Smart biomaterials are becoming promising for therapeutic deliveries due to their ability to respond to changes in the environment. Redox-responsive hydrogels are a promising type of smart polymer that can swell and degrade according to cellular oxidative stress levels. Glutathione, abundant in cells, is crucial in redox-responsive biomaterials, serving as a key reactive molecule. This study explored the degradation kinetics of glutathione-responsive poly(β-amino ester) (PBAE) polymers created through a single-step Michael addition. We examined how disulfide content influences the degradation kinetics of these PBAE networks. Additionally, we investigated how the hydrophilicity and functionality of acrylate affect the degradation of disulfide-containing …


Sustained Release Systems For Endometrial Cancer, Claire E. Rowlands Jan 2024

Sustained Release Systems For Endometrial Cancer, Claire E. Rowlands

Theses and Dissertations--Chemical and Materials Engineering

Endometrial cancer (EC) is the sixth most common cancer in women worldwide and is the most common cancer of female reproductive organs. From 2007-2016 there has been a global rise in incidence of EC of 1.3 %. Typically, EC is treated with surgery, but at later stages surgery is less effective requiring chemotherapy and/or radiation therapy. These treatment options are less effective than surgery and there are very few FDA approved chemotherapies for EC. The minuscule number of effective treatment options as well as an increase in incidence shows the need for creating improved treatments for EC. There has been …


On The Modes Of Nanosecond Pulsed Plasmas For Combustion Ignition Of Quiescent Ch₄-Air Mixtures, Chunqi Jiang, Akash C. Dhotre, Meimei Lai, Sayan Biswas, James R. Macdonald, Isaac W. Ekoto Jan 2024

On The Modes Of Nanosecond Pulsed Plasmas For Combustion Ignition Of Quiescent Ch₄-Air Mixtures, Chunqi Jiang, Akash C. Dhotre, Meimei Lai, Sayan Biswas, James R. Macdonald, Isaac W. Ekoto

Bioelectrics Publications

The effect of transient plasma modes on ignition kernel development are discussed here for a quiescent CH4-air combustion model system. A 10 ns high-voltage pulse was applied to a pin-to-pin electrode in lean fuel-air mixtures at room temperature and atmospheric pressure. High-impedance streamer, transient spark and low-impedance spark discharges were identified based on pulse waveforms of voltage and current. A sustained ignition kernel expansion was observed when the plasma discharge transitioned into a transient spark or spark discharge. The minimum ignition energy was obtained at the transient spark mode, which has less than a third of the energy …


Simultaneous Evaluation Of Tibiofemoral And Patellofemoral Mechanics In Total Knee Arthroplasty: A Combined Experimental And Computational Approach, Yashar A. Behnam, Ahilan Anantha Krishnan, Hayden Wilson, Chadd W. Clary Jan 2024

Simultaneous Evaluation Of Tibiofemoral And Patellofemoral Mechanics In Total Knee Arthroplasty: A Combined Experimental And Computational Approach, Yashar A. Behnam, Ahilan Anantha Krishnan, Hayden Wilson, Chadd W. Clary

Center for Orthopaedic Biomechanics: Faculty Scholarship

Contemporary total knee arthroplasty (TKA) has not fully restored natural patellofemoral (P-F) mechanics across the patient population. Previous experimental simulations have been limited in their ability to create dynamic, unconstrained, muscle-driven P-F articulation while simultaneously controlling tibiofemoral (T-F) contact mechanics. The purpose of this study was to develop a novel experimental simulation and validate a corresponding finite element model to evaluate T-F and P-F mechanics. A commercially available wear simulator was retrofitted with custom fixturing to evaluate whole-knee TKA mechanics with varying patella heights during a simulated deep knee bend. A corresponding dynamic finite element model was developed to validate …


Biom 1720: Introduction To Biomedical Engineering Tools, Stephen Strain Jan 2024

Biom 1720: Introduction To Biomedical Engineering Tools, Stephen Strain

Biomedical Engineering Syllabi Archive

Course Description: Use of computer tools for data analysis, presentation, documentation; introduction to programming; individual and group design projects.


Biom 3110: Medical Physiology (Syllabus), Bradford D. Pendley Jan 2024

Biom 3110: Medical Physiology (Syllabus), Bradford D. Pendley

Biomedical Engineering Syllabi Archive

Course Description: Basic principles of human physiology and how these are applied in medicine and biomedical engineering problem and devices; physiological principles using appropriate mathematical and engineering models to construct an understanding of how the body works as an integrated system.


Biom 4784: Biomedical Design Studio (Syllabus), Amy Curry Jan 2024

Biom 4784: Biomedical Design Studio (Syllabus), Amy Curry

Biomedical Engineering Syllabi Archive

Course Description: Laboratory experience dedicated to the design, development, and fabrication of a final prototype for use in conducting engineering analysis and design loop feedback. Responsibilities will include frequent team meetings, mentor advising, and group brainstorming along with prototype designing, technical drawings, fabrication, engineering analysis, and verification/validation. Deliverables for each team will be a prototype, final design specification report with engineering reports, and a final team presentation.


Biom 4410/Mech 4397: Engineering Practicum (Syllabus), Sheila Moses, Jeff Marchetta, Amy Curry Jan 2024

Biom 4410/Mech 4397: Engineering Practicum (Syllabus), Sheila Moses, Jeff Marchetta, Amy Curry

Biomedical Engineering Syllabi Archive

Course Description: Preparation for professional practice through experiential learning under the supervision of an experienced engineer with oversight by a member of the department’s faculty. Regular reporting throughout course required.


Biom 4782: Biomedical Design Practicum (Syllabus), Amy Curry Jan 2024

Biom 4782: Biomedical Design Practicum (Syllabus), Amy Curry

Biomedical Engineering Syllabi Archive

Course Description: Practical application of biomedical design principles with emphasis on project management, teamwork, prototype production, risk analysis and management, technical drawings, patent review with claim development, market analysis, regulatory issues, professional and ethical responsibilities of a biomedical engineer, engineering analysis/reports, incorporation of standards, prototype verification/validation, and presentation skills.


Insights Into The Heart Microstructure: A Case Study, Sarah Bulger Jan 2024

Insights Into The Heart Microstructure: A Case Study, Sarah Bulger

Honors Undergraduate Theses

This thesis focuses on better understanding the structures of the heart at the micro-scale. Cardiomyocytes and the branching of cardiomyocytes are of specific interest. A literature review was performed to extract key information on cardiomyocyte size, the branching type and frequency of cardiomyocytes, and cardiomyocytes' organization in general. The purpose of conducting the literature review was to find quantifiable data on the micro-structure of the heart. Three studies in particular provided data on the branching of cardiomyocytes. Two of these studies were conducted on rat hearts, while one other study was conducted on human hearts. The methods and terminology between …


The Regulation Of Laryngeal Cancer Cell Phenotype And Proliferation By 24r,25-Dihydroxyvitamin D3 Is Correlated With Erα Isoform Expression, Cydney Dennis Jan 2024

The Regulation Of Laryngeal Cancer Cell Phenotype And Proliferation By 24r,25-Dihydroxyvitamin D3 Is Correlated With Erα Isoform Expression, Cydney Dennis

Theses and Dissertations

Laryngeal cancer is the most common type of head and neck cancer and is associated with poor prognosis due to common delayed diagnoses. The sex disparities associated with laryngeal cancer are constantly growing, as the risk of malignancy in males is continually increasing compared to women. Due to the high chance of late-stage diagnosis requiring aggressive treatments, there is a high demand for less aggressive treatment options and early-stage diagnostic markers. The apparent sex disposition of the larynx, the correlation between sex hormones, and the risk of malignancy in aging men suggest that estrogen may play a role in laryngeal …


Dna I-Motifs: Biophysical Characterization And Structure-Property Correlation As Foundation For Functional Material Design, Alexander Minasyan Jan 2024

Dna I-Motifs: Biophysical Characterization And Structure-Property Correlation As Foundation For Functional Material Design, Alexander Minasyan

Graduate Research Theses & Dissertations

Over the past decades, nucleic acids have emerged as crucial frameworks with significance in biological systems and functional material engineering. Cytosine-rich deoxyribonucleotide sequences can form quadruplex structures a.k.a. i-motifs. Recently, i-motifs have attracted scientific interest in biological and material design areas.

In this work, we systematically investigate an effect of structured and unstructured modifications such as hairpins, stems, loops and overhangs on the kinetic and thermodynamic properties of DNA i-motifs. We demonstrate that the modifications can influence i-motif’s stability and folding/unfolding rates: thus, double stranded stems and hairpins are the best at stabilizing i-motifs and increasing kinetic rates of folding. …


Reevaluating The Paradox: Does Low-Dose Radiation From A-Bombs Affect Lifespan And Cancer Mortality?, Razieh Rashidfar, Zeynab Seyedi Sarhad, Seyed Mohammad Javad Mortazavi, Lembit Sihver Jan 2024

Reevaluating The Paradox: Does Low-Dose Radiation From A-Bombs Affect Lifespan And Cancer Mortality?, Razieh Rashidfar, Zeynab Seyedi Sarhad, Seyed Mohammad Javad Mortazavi, Lembit Sihver

Informatics and Engineering Systems Faculty Publications

No abstract provided.


A 3d Co-Culture Model Of Senescent Cell Burden And Salivary Gland Fibrosis, Stephen Rose Jan 2024

A 3d Co-Culture Model Of Senescent Cell Burden And Salivary Gland Fibrosis, Stephen Rose

Electronic Theses & Dissertations (2024 - present)

Patients with head and neck cancer often suffer collateral radiation damage to the salivary glands, leading to fibrosis. Histological examinations indicate that radiation encourages fibrosis by promoting cellular changes leading to both senescent and myofibroblast phenotypes, coupled with a significant loss of regenerative and acinar cells. Chronic hypofunction remains a primary concern, even with modified radiation approaches to sparing salivary glands. Current treatments primarily offer symptomatic relief without rectifying irreversible glandular tissue damage. This limitation arises, in part, from a deficiency in predictive preclinical models to study this multifaceted problem.

We introduce a 3D in vitro microtissue model to address …


Engineering Mussel Foot Protein 5 (Mfp5) For Enhanced Adhesive Performance In Tendon And Bone Repair, Ziyue Zhu Jan 2024

Engineering Mussel Foot Protein 5 (Mfp5) For Enhanced Adhesive Performance In Tendon And Bone Repair, Ziyue Zhu

McKelvey School of Engineering Graduate Student Theses & Dissertations

This study explores the development of Mussel Foot Protein 5 (MFP5) bioadhesives to improve tendon-to-tendon and tendon-to-bone adhesive outcomes. MFP5, known for its underwater adhesive properties, was synthesized using recombinant techniques and optimized through coacervation and cross-linking. Adhesion tests demonstrated the superior performance of the optimized MFP5 adhesive on the tendon and bone samples. Improved protein concentration testing and purification methods enhanced MFP5 yield and consistency. Future research will focus on further standardization, exploring alternative purification methods, and evaluating the adhesive's performance in animal models. This study lays a foundation for developing robust MFP5-based bioadhesives, potentially revolutionizing surgical repair techniques …


In Vivo Measurement Of Nadh Fluorescence Lifetime In Skeletal Muscle Via Fiber-Coupled Time-Correlated Single Photon Counting, Kathryn M. Priest, Jacob V. Schluns, Nathania Nischal, Colton L. Gattis, Jeffery C. Wolchok, Timothy J. Muldoon Jan 2024

In Vivo Measurement Of Nadh Fluorescence Lifetime In Skeletal Muscle Via Fiber-Coupled Time-Correlated Single Photon Counting, Kathryn M. Priest, Jacob V. Schluns, Nathania Nischal, Colton L. Gattis, Jeffery C. Wolchok, Timothy J. Muldoon

Biomedical Engineering Faculty Publications and Presentations

Nicotinamide adenine dinucleotide (NADH) is a cofactor that serves to shuttle electrons during metabolic processes such as glycolysis, the tricarboxylic acid cycle, and oxidative phosphorylation (OXPHOS). NADH is autofluorescent, and its fluorescence lifetime can be used to infer metabolic dynamics in living cells. Fiber-coupled time-correlated single photon counting (TCSPC) equipped with an implantable needle probe can be used to measure NADH lifetime in vivo, enabling investigation of changing metabolic demand during muscle contraction or tissue regeneration. This study illustrates a proof of concept for point-based, minimally-invasive NADH fluorescence lifetime measurement in vivo. Volumetric muscle loss (VML) injuries were …


The Sexually Dimorphic Role Of Connexin 43 In Bone Remodeling And Disuse-Induced Bone Loss, Gabriel A. Hoppock Jan 2024

The Sexually Dimorphic Role Of Connexin 43 In Bone Remodeling And Disuse-Induced Bone Loss, Gabriel A. Hoppock

Theses and Dissertations

Bone loss is frequently experienced by individuals undergoing long-term disuse, such as prolonged bedrest, immobilization due to paralysis or injury, and conditions such as spaceflight. Under normal physiological conditions, bone remodeling is balanced by bone-forming osteoblasts and bone-resorbing osteoclasts, and the activity of osteoblasts and osteoclasts is orchestrated by osteocytes. Osteocytes are the most abundant cell type found in bone and ample evidence suggests they are bone’s main mechanosensory cell type. Therefore, understanding osteocyte biology and responses to mechanical signals, or lack thereof during unloading, may lead to new therapeutic targets to combat bone loss during disuse. Previous data has …


Method For Continuous Fabrication Of Multi-Functional Nanogels, Hu Yang, Da Huang Jan 2024

Method For Continuous Fabrication Of Multi-Functional Nanogels, Hu Yang, Da Huang

Patents

Nanogels and methods of synthesizing and using these nanogels are provided. The nanogels are formed by mixing a building block (e.g., polymer), crosslinker, preferably a target (e.g., biomedical compound or molecule), and a solvent in a multi-inlet vortex mixer, so as to cause the polymer and crosslinker to react and form a chemically crosslinked polymer network. In embodiments including a target, the target will be interspersed in and among that network and can be physically embedded and/or chemically bound therein.


Flexible Fitting Of Alphafold2-Predicted Models To Cryo-Em Density Maps Using Elastic Network Models: A Methodological Affirmation, Maytha Alshammari, Jing He, Willy Wriggers Jan 2024

Flexible Fitting Of Alphafold2-Predicted Models To Cryo-Em Density Maps Using Elastic Network Models: A Methodological Affirmation, Maytha Alshammari, Jing He, Willy Wriggers

Computer Science Faculty Publications

Motivation: This study investigates the flexible refinement of AlphaFold2 models against corresponding cryo-electron microscopy (cryo-EM) maps using normal modes derived from elastic network models (ENMs) as basis functions for displacement. AlphaFold2 generally predicts highly accurate structures, but 18 of the 137 models of isolated chains exhibit a TM-score below 0.80. We achieved a significant improvement in four of these deviating structures and used them to systematically optimize the parameters of the ENM motion model.

Results: We successfully refined four AlphaFold2 models with notable discrepancies: lipid-preserved respiratory supercomplex (TM-score increased from 0.52 to 0.69), flagellar L-ring protein (TM-score increased from 0.53 …


Enhanced Skin Cancer Diagnosis Through Grid Search Algorithm-Optimized Deep Learning Models For Skin Lesion Analysis, Rudresh Pillai, Neha Sharma, Sheifali Gupta, Deepali Gupta, Sapna Juneja, Saurav Malik, Hong Qin, Mohammed S. Alqahtani, Amel Ksibi Jan 2024

Enhanced Skin Cancer Diagnosis Through Grid Search Algorithm-Optimized Deep Learning Models For Skin Lesion Analysis, Rudresh Pillai, Neha Sharma, Sheifali Gupta, Deepali Gupta, Sapna Juneja, Saurav Malik, Hong Qin, Mohammed S. Alqahtani, Amel Ksibi

Computer Science Faculty Publications

Skin cancer is a widespread and perilous disease that necessitates prompt and precise detection for successful treatment. This research introduces a thorough method for identifying skin lesions by utilizing sophisticated deep learning (DL) techniques. The study utilizes three convolutional neural networks (CNNs)-CNN1, CNN2, and CNN3-each assigned to a distinct categorization job. Task 1 involves binary classification to determine whether skin lesions are present or absent. Task 2 involves distinguishing between benign and malignant lesions. Task 3 involves multiclass classification of skin lesion images to identify the precise type of skin lesion from a set of seven categories. The most optimal …


Implementation Of Bayesian Statistics To Answer Diverse Engineering Questions: Applications In Cancer Immunology And Engineering Education, Anika C. Pirkey Jan 2024

Implementation Of Bayesian Statistics To Answer Diverse Engineering Questions: Applications In Cancer Immunology And Engineering Education, Anika C. Pirkey

Graduate Theses, Dissertations, and Problem Reports (ETD)

Quantitative Systems Pharmacology (QSP) refers to a mechanistic modeling approach used for assessing potential therapeutics by linking the molecular and cellular level mechanisms of the disease and therapeutic to the system-wide dynamics and clinical endpoints relevant to the disease. Although the field of QSP is still in its relative infancy, the mathematical methodology employed to predict the kinetics of these systems are not new and can be applied to a wide variety of systems. For instance, similar to QSP’s goal of guiding the development of novel therapeutics for various disease states, there exists a need to develop novel interventions in …


Identification And Characterization Of Two Novel Kcnh2 Mutations Contributing To Long Qt Syndrome, Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M. Cordeiro, Makarand Deo Jan 2024

Identification And Characterization Of Two Novel Kcnh2 Mutations Contributing To Long Qt Syndrome, Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M. Cordeiro, Makarand Deo

Electrical & Computer Engineering Faculty Publications

We identified two different inherited mutations in KCNH2 gene, or human ether-a-go-go related gene (hERG), which are linked to Long QT Syndrome. The first mutation was in a 1-day-old infant, whereas the second was in a 14-year-old girl. The two KCNH2 mutations were transiently transfected into either human embryonic kidney (HEK) cells or human induced pluripotent stem-cell derived cardiomyocytes. We performed associated multiscale computer simulations to elucidate the arrhythmogenic potentials of the KCNH2 mutations. Genetic screening of the first and second index patients revealed a heterozygous missense mutation in KCNH2, resulting in an amino acid change (P632L) in the …