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Functional Evaluation Of A Novel Rpl30 Mutation And Its Role In Diamond Blackfan Anemia (Dba), Alexandra Prosser, Alexandria Cockrell, Danny Miller, Chris Seidel, Tamara Potapova, John M. Perry, Midhat Farooqi, Erin M. Guest, Jennifer Gerton 2023 Children's Mercy Hospital

Functional Evaluation Of A Novel Rpl30 Mutation And Its Role In Diamond Blackfan Anemia (Dba), Alexandra Prosser, Alexandria Cockrell, Danny Miller, Chris Seidel, Tamara Potapova, John M. Perry, Midhat Farooqi, Erin M. Guest, Jennifer Gerton

Research Days

Background: Bone marrow failure is life-threatening and requires prompt, intensive treatment, which is dependent upon identification of genetic drivers. Although there has been investigation into associated genetic mutations, especially in Diamond Blackfan anemia (DBA), the relationship between genotype and phenotype remains unclear.DBA has been identified as a ribosomopathy, also known as a disease associated with defects in ribosome biogenesis. We identified a novel heterozygous variant (c.167+769C >T) in the noncoding region of RPL30 in a patient with clinical diagnosis of DBA. Clinical RNA sequencing (RNA-seq) suggests the variant generates a novel splice acceptor site resulting in truncated RPL30 transcripts. Elucidation …


Extravasated Brain-Reactive Autoantibodies Perturb Neuronal Surface Protein Expression In Alzheimer's Pathology, Wardah Bajwa, Mary Kosciuk, Randel L. Swanson, Anuradha Krishnan, Venkat Venkataraman, Robert Nagele, Nimish Acharya 2023 Rowan University

Extravasated Brain-Reactive Autoantibodies Perturb Neuronal Surface Protein Expression In Alzheimer's Pathology, Wardah Bajwa, Mary Kosciuk, Randel L. Swanson, Anuradha Krishnan, Venkat Venkataraman, Robert Nagele, Nimish Acharya

Rowan-Virtua Research Day

Background: Increased blood-brain barrier (BBB) permeability is reported in both the neuropathological and in vivo studies in both Alzheimer’s Disease (AD) and age matched cognitively normal, no cognitive impairment (NCI), subjects. Impaired BBB allows various vascular components such as immunoglobulin G (IgG) to extravasate into the brain and specifically bind to various neuronal surface proteins (NSP), also known as brain reactive autoantibodies (BrABs). This interaction is predicted to further enhance deposition of amyloid plaques.

Hypothesis: Interaction between extravasated BrABs and its cognate NSPs lower the expression of that NSPs in AD patients.

Methods: We selected Western blotting technique to study …


Awareness & Prevention Of Health Hazards For Americans Embarking In Space Tourism, Krzysztof Zembrzuski 2023 Rowan University

Awareness & Prevention Of Health Hazards For Americans Embarking In Space Tourism, Krzysztof Zembrzuski

Rowan-Virtua Research Day

Since the beginning of spaceflight, keeping humans healthy has been a serious concern. Prior to 2021, astronauts had to undergo an elite selection process to embark in space travel. Now that commercial spaceflight is a reality, the criteria to experience space has been significantly loosened, raising health concerns to a larger and unhealthier pool of travelers. Most commercial spaceflight clients are anticipated to be middle-aged adults, which implies many will suffer from high blood pressure and heart disease, both of which are frequent ailments in this age group. Because of the massive compression the body undergoes during takeoff and return, …


Social Dominance Alters Stress-Induced Neural Activity And Generates Individual Differences In Stress Vulnerability, Jenna Lee Laymon 2023 University of Tennessee, Knoxville

Social Dominance Alters Stress-Induced Neural Activity And Generates Individual Differences In Stress Vulnerability, Jenna Lee Laymon

Masters Theses

Identifying the physiological and behavioral mechanisms that underlie stress vulnerability is a crucial step toward identifying novel targets for the prevention and treatment of stress-related disorders. Social status is a key environmental factor that contributes to individual variations in stress vulnerability. In particular, achieving a subordinate social status has been shown to produce susceptibility to anxiety-like and depressive-like behavior. In this project, our aim was to identify neural ensembles regulating how dominance status modulated stress-induced changes in avoidant behavior in male and female Syrian hamsters. Using a viral vector that codes for robust activity marker (RAM), we investigated whether stress-induced …


Kir-Based Inhibitory Cars Overcome Car-Nk Cell Trogocytosis-Mediated Fratricide And Tumor Escape, YE NMN LI 2023 The University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences

Kir-Based Inhibitory Cars Overcome Car-Nk Cell Trogocytosis-Mediated Fratricide And Tumor Escape, Ye Nmn Li

Dissertations & Theses (Open Access)

Trogocytosis is an active process that transfers surface material from targeted to effector cells. Using multiple in vivo tumor models and clinical data, we report that chimeric antigen receptor (CAR) activation in natural killer (NK) cells promoted the transfer of the CAR-cognate-antigen from tumor to NK cells, resulting in (1) lower tumor antigen density, thus impairing the ability of CAR-NK cells to engage with their targets, (2) induced self-recognition and continuous CAR-mediated engagement, resulting in fratricide of trogocytic antigen expressing NK cells (NKTROG+) and NK cell hyporesponsiveness. This phenomenon could be offset by a dual-CAR system incorporating both …


Identification Of Molecular Markers Associated With Copd In Non-Smokers And Smokers: A Bioinformatics Analysis, Agede O. Ayodele, Isa M. Wasagu, Ademola E. Fawibe, Alakija K. Salami 2023 University of Ilorin, Ilorin

Identification Of Molecular Markers Associated With Copd In Non-Smokers And Smokers: A Bioinformatics Analysis, Agede O. Ayodele, Isa M. Wasagu, Ademola E. Fawibe, Alakija K. Salami

The University of Louisville Journal of Respiratory Infections

Background

Even though the proportional burden of COPD among never-smokers is significant in both developing and developed nations, accounting for around 30% of all COPD in the community, there is little awareness of the prevalence of COPD in this population. Understanding the molecular processes that underlie COPD in nonsmokers is essential.

Methods

Dataset (GSE146560) was acquired from the Gene Expression Omnibus (GEO). The limma and clusterProfiler software tools were used to identify differentially expressed genes (DEGs) and conduct a functional enrichment analysis respectively.

Results

In all, 10,583 DEGs were found, of which 1,065 were up-regulated and 9,518 were down-regulated. The …


Immobilization And Its Effects On Functional Recovery After Spinal Cord Injury., William H. Gregory 2023 University of Louisville

Immobilization And Its Effects On Functional Recovery After Spinal Cord Injury., William H. Gregory

College of Arts & Sciences Senior Honors Theses

Recovery, or rather the failure to recover, is a perplexing issue of spinal cord injury that is currently being investigated. This issue becomes more puzzling when investigating models in which spinal cord injury (SCI) is studied. There appears to be greater functional recovery experienced by animals within these models after injury as compared to patients in the clinical setting. While many things could contribute to this disparity, one difference that stands out when comparing the basic research model and clinical experience of SCI is the inactivity and limb disuse after the injury. This same level of immobility is rarely accounted …


Analysis Of The Efficacy Of The Modified Finnegan Scoring System, Benjamin Collaer, Victoria Lucia 2023 Oakland University William Beaumont School of Medicine Student

Analysis Of The Efficacy Of The Modified Finnegan Scoring System, Benjamin Collaer, Victoria Lucia

Posters

Neonatal Abstinence Syndrome (NAS) is a constellation of opiate withdrawal symptoms including irritability, inadequate feeding/ growth, and seizures in neonates This condition occurs shortly after birth if the fetus had significant exposure to opiates in-utero. Since 2014, each NAS case at Beaumont Royal Oak and Troy Hospitals has had their treatment dictated by their score on the Modified Finnegan Scoring System (MFSS). This scoring system was created to minimize unnecessary opiate-based treatments for neonates with NAS. The main objective of this study is to analyze the efficacy of the MFSS and observe the change in patient outcomes since its implementation …


Chief Complaint And Geriatric Depression: Assessing Risk For 30- And 90-Day Readmission, Eric James, Michelle Moccia, Victoria Lucia 2023 Oakland University William Beaumont School of Medicine Student

Chief Complaint And Geriatric Depression: Assessing Risk For 30- And 90-Day Readmission, Eric James, Michelle Moccia, Victoria Lucia

Posters

Readmission to the hospital has significant monetary costs and represents a care gap for older adults. This investigation examines how a positive geriatric depression screen and chief complaint contribute to 30- and 90-day readmission risk. Depression recognition with follow-up care is a critical first step to prevent adverse outcomes such as readmission.


Telemedicine Success - A Rapid Review, Anna Carman, Victoria Lucia 2023 Oakland University William Beaumont School of Medicine Student

Telemedicine Success - A Rapid Review, Anna Carman, Victoria Lucia

Posters

Telemedicine involves utilizing telecommunications and technology to deliver healthcare - including diagnosis, consultation, education, care management, and patient self-management - to populations with otherwise limited access to care. It offers a broad-range of benefits, including increased care accessibility, improved continuity of care, and decreased costs, without sacrificing patient satisfaction. However, telemedicine requires unique skills and approaches, unfamiliar to many physicians. We conducted a rapid review of research-validated techniques, across multiple subspecialties, to identify research-validated techniques for maximizing telemedicine appointments, synthesized in a comprehensive list, in order to support clinicians in modern healthcare settings.


A Retrospective Study On The Incidence Of Ckd Diagnosis Post Covid-19 Infection With Variations In Glycemic Control, Eduardo Leon, Jithin John, Nick Ludka, Ramin Homayouni 2023 Oakland University William Beaumont School of Medicine Student

A Retrospective Study On The Incidence Of Ckd Diagnosis Post Covid-19 Infection With Variations In Glycemic Control, Eduardo Leon, Jithin John, Nick Ludka, Ramin Homayouni

Posters

The COVID-19 pandemic has emphasized that the virus can cause multi-organ complications, especially in patients with pre-existing conditions such as type-2 diabetes mellitus (T2DM), who are at higher risk for poor outcomes. Some patients may also develop T2DM post-infection due to the virus's effects on insulin secretion and blood glucose regulation. Glycated hemoglobin (HbA1c) is a useful tool for assessing blood glucose levels over time, diagnosing diabetes and monitoring disease management. Elevated levels of HbA1c have been linked to diabetic nephropathy (DN) and chronic kidney disease (CKD), both of which are potential complications of COVID-19 infection. This study aims to …


Modeling Antihypertensive Therapeutic Inertia And Intensification To Support Clinical Action Toward Hypertension Control, Benjamin Martin 2023 Clemson University

Modeling Antihypertensive Therapeutic Inertia And Intensification To Support Clinical Action Toward Hypertension Control, Benjamin Martin

All Dissertations

Background

Hypertension is the leading modifiable risk factor for cardiovascular disease and consequent mortality worldwide. In the U.S., more than half of hypertension cases remain uncontrolled, despite availability of effective pharmaceutical treatment options. Evidence suggests that therapeutic inertia, defined as clinician failure to initiate or increase therapy when treatment goals are unmet, is the most influential barrier to improving hypertension control. Substantial rates of therapeutic inertia have been reported in ambulatory primary care settings where hypertension is typically treated and managed. Understanding and overcoming the forces driving therapeutic inertia in hypertension management is a critical strategy to reach population health …


Application Of Informatics Tools To Facilitate The Practice Of Precision Medicine With Genomic Testing And Clinical Data, Michael Sayer 2023 Chapman University

Application Of Informatics Tools To Facilitate The Practice Of Precision Medicine With Genomic Testing And Clinical Data, Michael Sayer

Pharmaceutical Sciences (PhD) Dissertations

The practice of precision medicine considers a variety of sources of information to optimize patient care. Factors such as patient demographics, clinical history, and lab test values have well understood effects on treatment outcomes and influence decision making. However, effective inclusion of biomolecular data such as protein expression and DNA sequencing data within the practice of precision medicine needs continued study. Informatics tools offer solutions to allow these complex data sources to be effectively embraced. Utilization of informatics tools to visualize data pertaining to the gene selection practices of pharmacogenomic (PGx) tests effectively communicated large amounts of information into concise …


Iatrogenic Nerve Injuries During Surgeries Of The Neck: A Systematic Review, Tajuldeen Al-Hasani, Jickssa Gemechu, Varna Taranikanti 2023 Oakland University William Beaumont School of Medicine Student

Iatrogenic Nerve Injuries During Surgeries Of The Neck: A Systematic Review, Tajuldeen Al-Hasani, Jickssa Gemechu, Varna Taranikanti

Posters

Iatrogenic nerve injuries in the neck can present with a wide spectrum of symptoms ranging from mild pain, numbness, or weakness, to devastating consequences for patients such as permanent irreversible damage, disability, or even death. Surgical interventions in the neck region, especially those requiring radical dissections in the neck carry a significant risk of iatrogenic injury to several vital nerves passing through the neck such as vagus, phrenic, brachial plexus, cervical plexus, and ansa cervicalis.


Incidence Of Myopathy In Post Covid-19 Patients Undergoing Statin Therapy, Jithin John, Eduardo Leon, Ramin Homayouni 2023 Oakland University William Beaumont School of Medicine Student

Incidence Of Myopathy In Post Covid-19 Patients Undergoing Statin Therapy, Jithin John, Eduardo Leon, Ramin Homayouni

Posters

Statin-associated myositis has been documented since its first use, causing an increase in Creatinine Kinase levels. While some suggest avoiding statins in individuals with COVID-19, recent literature suggests that statin use is protective against SARS-CoV-2 infection due to its antioxidant and anti-inflammatory properties. The role of statin therapy in COVID-19 cases, especially regarding myopathy, remains scarce. We hypothesize that different statin therapies prior to SARS-CoV-2 infection are associated with an increased risk of myopathy and an increase in blood CK levels.


Beyond Covid-19: The Impact Of Recent Pandemics On Medical Students And Their Education: A Scoping Review, Moneb Bughrara, Stephanie Swanberg, Victoria Lucia, Keaton Schmitz, Dawn Jung, Tracy Wunderlich-Barillas 2023 Oakland University William Beaumont School of Medicine Student

Beyond Covid-19: The Impact Of Recent Pandemics On Medical Students And Their Education: A Scoping Review, Moneb Bughrara, Stephanie Swanberg, Victoria Lucia, Keaton Schmitz, Dawn Jung, Tracy Wunderlich-Barillas

Posters

Over the past two years, COVID-19 has greatly altered undergraduate medical education (UME) as well as daily life. Medical schools across the world were disrupted and had to immediately adapt the educational experience to the online environment in order to continue the delivery of quality UME. However, COVID-19 was not the only recent pandemic. This posed the question, were similar disruptions and adaptations also seen in recent past pandemics such as Severe Acute Respiratory Syndrome (SARS) or Middle East Respiratory Syndrome (MERS) that could have prepared UME for COVID-19? This scoping review investigated the educational and personal impact of recent …


Targeting Metabolic Alterations Associated With Smooth Muscle Α-Actin Pathogenic Variant Attenuates Moyamoya-Like Cerebrovascular Disease, Anita Kaw 2023 The Texas Medical Center Library

Targeting Metabolic Alterations Associated With Smooth Muscle Α-Actin Pathogenic Variant Attenuates Moyamoya-Like Cerebrovascular Disease, Anita Kaw

Dissertations & Theses (Open Access)

Heterozygous pathogenic variants in ACTA2, encoding smooth muscle α-actin (α-SMA), predispose to thoracic aortic aneurysms and dissections. De novo missense variants disrupting ACTA2 arginine 179 (p.Arg179) cause a multisystemic disease termed smooth muscle dysfunction syndrome (SMDS), which is characterized by early onset thoracic aortic disease and moyamoya disease-like (MMD) cerebrovascular disease. The MMD-like cerebrovascular disease in SMDS patients is marked by bilateral steno-occlusive lesions in the distal internal carotid arteries (ICAs) and their branches. To study the molecular mechanisms that underlie the ACTA2 p.Arg179 variants, a smooth muscle-specific Cre-lox knock-in mouse model of the heterozygous Acta2 R179C variant, termed …


Regenerative Medicine For Tendon/Ligament Injuries: De Novo Equine Tendon/Ligament Neotissue Generation And Application, Takashi Taguchi 2023 Louisiana State University and Agricultural and Mechanical College

Regenerative Medicine For Tendon/Ligament Injuries: De Novo Equine Tendon/Ligament Neotissue Generation And Application, Takashi Taguchi

LSU Doctoral Dissertations

Tendon and ligament injuries are debilitating conditions across species. Poor regenerative capacities of these tissues limit restoration of original functions. The first study evaluated the effect of cellular administration on tendon/ligament injuries in horses using meta-analysis. The cellular administration was effective in restoring ultrasonographic echogenicity and increasing vascularity during early phase of healing. Additionally, it improved microstructural organization of healed tissue in terms of cellularity and fiber alignment. However, the study did not support its use for increasing rate of return to performance, expression/deposition of tendon-specific genes/proteins, or mechanical properties.

The findings led to the second study that engineered implantable …


Persistently Elevated Hbv Viral-Host Junction Dna In Urine As A Biomarker For Hepatocellular Carcinoma Minimum Residual Disease And Recurrence: A Pilot Study, Selena Y Lin, Dina Halegoua-De Marzio, Peter Block, Yu-Lan Kao, Jesse M. Civan, Fwu-Shan Shieh, Wei Song, Hie-Won Hann, Ying-Hsiu Su 2023 Thomas Jefferson University

Persistently Elevated Hbv Viral-Host Junction Dna In Urine As A Biomarker For Hepatocellular Carcinoma Minimum Residual Disease And Recurrence: A Pilot Study, Selena Y Lin, Dina Halegoua-De Marzio, Peter Block, Yu-Lan Kao, Jesse M. Civan, Fwu-Shan Shieh, Wei Song, Hie-Won Hann, Ying-Hsiu Su

Department of Medicine Faculty Papers

Hepatitis B virus (HBV)-host junction sequences (HBV-JSs) has been detected in the urine of patients with HBV infection. This study evaluated HBV-JSs as a marker of minimum residual disease (MRD) and tumor recurrence after treatment in HBV-hepatocellular carcinoma (HCC) patients. Archived serial urine DNA from two HBV–HCC with recurrence as confirmed by MRI and four HBV-related cirrhosis (LC) patients were used. Urinary HBV-JSs were identified by an HBV-targeted NGS assay. Quantitative junction-specific PCR assays were developed to investigate dynamic changes of the most abundant urinary HBV-JS. Abundant urinary HBV-JSs were identified in two cases of tumor recurrence. In case 1, …


Pimt Is A Novel And Potent Suppressor Of Endothelial Activation, Chen Zhang, Zhifu Guo, Wennan Liu, Kyosuke Kazama, Louis Hu, Xiaobo Sun, Lu Wang, Hyoungjoo Lee, Lin Lu, Xiao-Feng Yang, Ross Summer, Jianxin Sun 2023 Thomas Jefferson University

Pimt Is A Novel And Potent Suppressor Of Endothelial Activation, Chen Zhang, Zhifu Guo, Wennan Liu, Kyosuke Kazama, Louis Hu, Xiaobo Sun, Lu Wang, Hyoungjoo Lee, Lin Lu, Xiao-Feng Yang, Ross Summer, Jianxin Sun

Division of Pulmonary and Critical Care Medicine Faculty Papers

Proinflammatory agonists provoke the expression of cell surface adhesion molecules on endothelium in order to facilitate leukocyte infiltration into tissues. Rigorous control over this process is important to prevent unwanted inflammation and organ damage. Protein L-isoaspartyl O-methyltransferase (PIMT) converts isoaspartyl residues to conventional methylated forms in cells undergoing stress-induced protein damage. The purpose of this study was to determine the role of PIMT in vascular homeostasis. PIMT is abundantly expressed in mouse lung endothelium and PIMT deficiency in mice exacerbated pulmonary inflammation and vascular leakage to LPS(lipopolysaccharide). Furthermore, we found that PIMT inhibited LPS-induced toll-like receptor signaling through its interaction …


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