Medicine and Health Sciences Commons^™

Top Caregiver Concerns In Rett Syndrome And Related Disorders: Data From The Us Natural History Study, Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U Peters, Alan K Percy

Faculty, Staff and Students Publications

OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders.

METHODS: Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) …

Immune-Depleted Tumor Microenvironment Is Associated With Poor Outcomes And Btk Inhibitor Resistance In Mantle Cell Lymphoma, Preetesh Jain, Krystle Nomie, Nikita Kotlov, Vitaiy Segodin, Holly Hill, Chi Young Ok, Ahmed Fetooh, Rashmi Kanagal-Shamanna, Francisco Vega, Alexander Bagaev, Nathan Fowler, Christopher R Flowers, Michael Wang

Faculty, Staff and Student Publications

Mantle cell lymphoma (MCL) is a generally aggressive B cell non-Hodgkin lymphoma (B-NHL). Outcomes of patients have improved in the era of Bruton’s tyrosine kinase inhibitors (BTKi). However, MCL patients can develop resistance to BTKi over time and can progress [1]. Ibrutinib resistance in MCL is correlated with an overexpression of OXPHOS, MYC and PI3K/AKT/m-TOR pathways. Somatic mutations in TP53, KMT2D, NSD2, SMARCA4, CCND1, TRAF2, NFKBIE genes are reported with ibrutinib resistance [2]. A few reports have also demonstrated that a decrease in T cell numbers [3, 4] or a downregulation of effector/cytotoxic …

Trio-Based Gwas Identifies Novel Associations And Subtype-Specific Risk Factors For Cleft Palate, Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Jeffrey C Murray, Gary M Shaw, Lina Moreno Uribe, Seth M Weinberg, Harrison Brand, Mary L Marazita, Robert J Lipinski, Elizabeth J Leslie

Faculty, Staff and Student Publications

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified …

Rare Case Of Prosthetic Joint Infection Caused By Salmonella Enterica - A Case Report, Carlos Ramos, Shyama Appareddy, Peter J. Gonzalez

Research Colloquium

Introduction: Collectively, over 1 million total knee arthroplasties (TKA) and total hip arthroplasties (THA) are performed in the United States each year. In 2010 it was estimated that 1.58% of the United States general population has received a TKA. Prosthetic joint infections (PJI) are the most common indication for a TKA revision1 . In total, S. aureus is responsible for about 50% of all prosthetic joint infections, and about 15% are caused by gram negative pathogens2 .

Objective: This is a case report which describes the presentation and clinical course of a 59-yearold female with Salmonella enterica septic arthritis of …

Prevalence Of Liver Cirrhosis And Its Association With Obesity Among Mexican Americans: An Evidence Synthesis, Alexa Perlick, Abaigeal Thompson, Colton Wayne, Angel Rendon, Jose E. Campo Maldonado

Research Colloquium

Introduction: Chronic liver disease is the 6^th and 7^th leading cause of death in Hispanic men and Hispanics, respectively.¹ In contrast to other causes of liver disease, the prevalence of nonalcoholic liver disease has been growing as is diabetes and obesity.²

Objective: There is a paucity of data regarding the prevalence of cirrhosis for Mexican Americans in South Texas. The aim of this evidence synthesis is to investigate the prevalence of cirrhosis in Hispanic populations and its relationship with obesity.

Methods: PubMed was used to perform a thorough literature search on September10, 2020. The terms “liver …

A Covid-19-Inspired Comprehensive Approach To Resident Wellness And 360-Degree Approach To Pandemic Preparedness And Disinfection Practices, Preet Gudimella, Unnam Nasir, Heidi Pareja

Research Colloquium

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak that had led to the coronavirus disease 2019 (COVID-19) pandemic caused stress for medical residents on the frontline. This motivated our team to implement changes in our residency program’s inpatient service. We approached resident wellness in a comprehensive manner. The changes we implemented at our site had crucial benefits for our inpatient teams. Not only did we implement conventional best practices on infection prevention, we also executed additional safety measures, addressed mental and physical health, and had COVID-19-specific skills training. Consequently, our residents were less stressed, better prepared, and more focused …

It Takes A Big Heart To Shape Atrophic Hepatocytes: Hypoxic Hepatitis Secondary To Congestive Heart Failure, Lina Pedraza Sanchez, Jose Rivera, Cynthia Rivas, Grigoriy Rapoport, Michelle Lopez

Research Colloquium

Introduction: Hypoxic hepatitis (HH) also known as ischemic hepatitis is the result of a hypoperfusion state during diffuse hepatic injury¹. The incidence of HH is 2:1000 of patients within any hospital care level. 94% of HH are related to chronic heart failure (HF). In this setting, hepatic dysfunction occurs as a result of passive venous congestion². The most common predisposing factors are acute heart failure and shock states, however, more than half of the cases are not related to any hemodynamic change, thus, underrecognized.

Case description: A 77-year-old woman is admitted to the hospital for acute …

Multisystem Inflammatory Syndrome In Children (Mis-C): Is There A Relationship To Typhus?, Sravani Mannuru, Juliana Hager, Jacob Smith

Research Colloquium

The United Kingdom first reported in April 2020 a group of eight previously healthy children with a link to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) that presented with systemic inflammation and multi-organ involvement, now named multisystem inflammatory syndrome in children (MIS-C). The Centers of Disease Control and Prevention (CDC) have reported over 1000 cases since the primary discovery as of October 2020 with 20 total deaths. [1] The clinical features of MIS-C have been previously compared to inflammatory syndromes including Kawasaki disease (KD) and toxic shock syndrome (TSS). We describe the clinical presentation and management for 3 pediatric cases with …

Cmv? An Uncommon Etiology For Significant Disease In The Immunocompetent Individual, Ashley Sareen, Cade Call, Sonya Saenz

Research Colloquium

A 51-year-old Hispanic male with Type 2 diabetes mellitus and dyslipidemia was admitted from the ED for evaluation of recurrent fevers, multiple joint pains, and tachycardia. Physical exam findings included cachectic appearance and right inguinal lymphadenopathy. Initial laboratory testing was significant for a WBC of 23,300 (80.2% neutrophils, 13.3% lymphocytes), Hb of 11.1, HCT of 33.1, and ESR of 120. Chest x-ray reported no acute findings and x-ray imaging of affected joints were unremarkable. Blood and urine cultures would eventually return negative. Despite acetaminophen and broad-spectrum antibiotic use, the patient continued with fevers and tachycardia, prompting further infectious and rheumatological …

The Inherited Kras-Variant As A Biomarker Of Cetuximab Response In Nsclc, Joanne Weidhaas, Chen Hu, Ritsuko Komaki, Gregory Masters, George Blumenschein, Joe Chang, Bo Lu, Adam Dicker, Jeffrey Bogart, Yolanda Garces, Samir Narayan, Clifford Robinson, Vivek Kavadi, Joel S Greenberger, Christopher Koprowski, James Welsh, Elizabeth Gore, Robert Macrae, Rebecca Paulus, Jeffrey Bradley

Department of Radiation Oncology Faculty Papers

PURPOSE: RTOG 0617 was a phase III randomized trial for patients with unresectable stage IIIA/IIIB non-small cell lung cancer comparing standard-dose (60 Gy) versus high-dose (74 Gy) radiotherapy and chemotherapy, plus or minus cetuximab. Although the study was negative, based on prior evidence that patients with the KRAS-variant, an inherited germline mutation, benefit from cetuximab, we evaluated KRAS-variant patients in RTOG 0617.

EXPERIMENTAL DESIGN: From RTOG 0617, 328 of 496 (66%) of patients were included in this analysis. For time-to-event outcomes, stratified log-rank tests and multivariable Cox regression models were used. For binary outcomes, Cochran-Mantel-Haenzel tests and multivariable logistic regression …

Usp1 Promotes Cholangiocarcinoma Progression By Deubiquitinating Parp1 To Prevent Its Proteasomal Degradation, Deng Yong Zhang, Yan Zhu, Qiong Wu, Shuoshuo Ma, Yang Ma, Zheng Chao Shen, Zhonglin Wang, Wanliang Sun, Yong Chun Zhou, Dongdong Wang, Shuo Zhou, Zhong Liu, Lawrence N Kwong, Zheng Lu

Faculty, Staff and Student Publications

Despite its involvement in various cancers, the function of the deubiquitinase USP1 (ubiquitin-specific protease 1) is unexplored in cholangiocarcinoma (CCA). In this study, we provide evidence that USP1 promotes CCA progression through the stabilization of Poly (ADP-ribose) polymerase 1 (PARP1), consistent with the observation that both USP1 and PARP1 are upregulated in human CCA. Proteomics and ubiquitylome analysis of USP1-overexpressing CCA cells nominated PARP1 as a top USP1 substrate. Indeed, their direct interaction was validated by a series of immunofluorescence, co-immunoprecipitation (CO-IP), and GST pull-down assays, and their interaction regions were identified using deletion mutants. Mechanistically, USP1 removes the ubiquitin …

Comparative Analysis Of Conformational Dynamics And Systematic Characterization Of Cryptic Pockets In The Sars-Cov-2 Omicron Ba.2, Ba.2.75 And Xbb.1 Spike Complexes With The Ace2 Host Receptor: Confluence Of Binding And Structural Plasticity In Mediating Networks Of Conserved Allosteric Sites, Mohammed Alshahrani, Grace Gupta, Sian Xiao, Peng Tao, Gennady M. Verkhivker

Mathematics, Physics, and Computer Science Faculty Articles and Research

In the current study, we explore coarse-grained simulations and atomistic molecular dynamics together with binding energetics scanning and cryptic pocket detection in a comparative examination of conformational landscapes and systematic characterization of allosteric binding sites in the SARS-CoV-2 Omicron BA.2, BA.2.75 and XBB.1 spike full-length trimer complexes with the host receptor ACE2. Microsecond simulations, Markov state models and mutational scanning of binding energies of the SARS-CoV-2 BA.2 and BA.2.75 receptor binding domain complexes revealed the increased thermodynamic stabilization of the BA.2.75 variant and significant dynamic differences between these Omicron variants. Molecular simulations of the SARS-CoV-2 Omicron spike full-length trimer complexes …

Novel Treatments For Pxe: Targeting The Systemic And Local Drivers Of Ectopic Calcification, Ida Joely Jacobs, Qiaoli Li

Department of Biochemistry and Molecular Biology Faculty Papers

Pseudoxanthoma elasticum (PXE) is a heritable multisystem ectopic calcification disorder. The gene responsible for PXE, ABCC6, encodes ABCC6, a hepatic efflux transporter regulating extracellular inorganic pyrophosphate (PPi), a potent endogenous calcification inhibitor. Recent studies demonstrated that in addition to the deficiency of plasma PPi, the activated DDR/PARP signaling in calcified tissues provides an additional possible mechanism of ectopic calcification in PXE. This study examined the effects of etidronate (ETD), a stable PPi analog, and its combination with minocycline (Mino), a potent inhibitor of DDR/PARP, on ectopic calcification in an Abcc6-/- mouse model of PXE. Abcc6-/- mice, at 4 weeks of …

Paired Liver:Plasma Pfas Concentration Ratios From Adolescents In The Teen-Labs Study And Derivation Of Empirical And Mass Balance Models To Predict And Explain Liver Pfas Accumulationn, Brittney O Baumert, Fabian C Fischer, Flemming Nielsen, Philippe Grandjean, Scott Bartell, Nikos Stratakis, Douglas I Walker, Damaskini Valvi, Rohit Kohli, Thomas Inge, Justin Ryder, Todd Jenkins, Stephanie Sisley, Stavra Xanthakos, Sarah Rock, Michele A La Merrill, David Conti, Rob Mcconnell, Lida Chatzi

Faculty, Staff and Students Publications

Animal studies have pointed at the liver as a hotspot for per- and polyfluoroalkyl substances (PFAS) accumulation and toxicity, however, these findings have not been replicated in human populations. We measured concentrations of seven PFAS in matched liver and plasma samples collected at the time of bariatric surgery from 64 adolescents in the Teen-Longitudinal Assessment of Bariatric Surgery (Teen-LABS) study. Liver:plasma concentrations ratios were perfectly explained (r2 > 0.99) in a multi-linear regression (MLR) model based on toxicokinetic (TK) descriptors consisting of binding to tissue constituents and membrane permeabilities. Of the seven matched plasma and liver PFAS concentrations compared in this …

Opposing Roles For The Α Isoform Of The Catalytic Subunit Of Protein Phosphatase 1 In Inside-Out And Outside-In Integrin Signaling In Murine Platelets, Tanvir Khatlani, Subhashree Pradhan, Kimberly Langlois, Deepika Subramanyam, Rolando E Rumbaut, K Vinod Vijayan

Faculty, Staff and Students Publications

Platelet activation during hemostasis and thrombosis is facilitated by agonist-induced inside–out and integrin αIIbβ3-initiated outside–in signaling via protein kinases and phosphatases. Pharmacological inhibitor studies suggest that the serine/threonine protein phosphatase 1 (PP1) promotes platelet activation. However, since phosphatase inhibitors block all the isoforms of the catalytic subunit of PP1 (PP1c), the role of specific PP1c isoform in platelet signaling remains unclear. Here, we employed a platelet-specific PP1cα−/− mice to explore the contribution of a major PP1 isoform in platelet functions. Loss of PP1cα moderately decreased activation of integrin αIIbβ3, binding of soluble fibrinogen, and aggregation to low-dose thrombin, ADP, and …

Uterine Serous Carcinoma: A Rare Presentation Of An Uncommon Type Of Cancer, Shadi Jafari-Esfahani, Fatimah Bello

Research Colloquium

Introduction: Endometrial adenocarcinoma is the most common type of uterine cancer and is divided into two types; type 1 includes 80 percent of the cases while type 2 comprises 10 to 20 percent, with latter being more aggressive. Type 2 endometrial cancer is of serous or clear cell histology and abnormal uterine bleeding is the most common clinical presentation. This case portrays an infrequent presentation of uterine cancer.

Case Presentation: A 73-year-old woman with past medical history of hypertension and diabetes mellitus type 2 presents to the emergency room with chief complaint of nausea and abdominal bloating for 2 months, …

Hepatic Chylothorax, A Rare Finding In A Patient With Subacute Hepatic Hydrothorax, Oscar Rodrigo Zamudio Herrera, Shadi Jafari-Esfahani, Fatimah Bello

Research Colloquium

Background: The presence of chyle in the pleural space is termed chylothorax. Etiologies include traumatic (iatrogenic, blunt, or penetrating injury) and non-traumatic (non-malignant and malignant). Liver cirrhosis is a rare cause of non-traumatic, nonmalignant chylothorax. We describe a case of a transudative chylothorax in a patient with cirrhosis and hepatic hydrothorax.

Case presentation: A 72-year-old woman presents with complaints of shortness of breath for 7 days, altered mental status, and abdominal distention. Patient has past medical history of diabetes, hypertension, and liver cirrhosis. On arrival, vital signs demonstrated T 96.2 F°, HR 75, RR 16, BP 143/68, and SO2 97%. …

A Case Of Device Lead Induced Severe Tricuspid Regurgitation And Right-Sided Heart Failure, Nina Shyama Appareddy, Michaela Iglesia, Ayman Khaddam, Henry Kwang, Eduardo D. Flores

Research Colloquium

Background: Interference of device leads with closure of the tricuspid leaflets can cause severe tricuspid regurgitation (TR) and right-sided heart failure, as can heart failure with reduced LV function (HfrEF), and left sided valve disease.

Case Presentation: A 78-year-old male with history of coronary artery disease s/p remote coronary bypass, ischemic cardiomyopathy with left ventricular ejection fraction 35-40%, and inducible ventricular tachycardia status post defibrillator presented with worsening dyspnea on exertion, easy fatigue, lower extremity pitting edema, anasarca, abdominal bloating and new systolic murmurs at the right upper and left lower sternal borders. An Echocardiogram demonstrated severe aortic stenosis with …

Pneumocystis Jirovecii Pneumonia In A Newly Diagnosed Aids Geriatric Patient, Ashley Sareen, Nathan Tanner, James Fahey

Research Colloquium

Background: Approximately 40% of new HIV infections originate from people who are unaware of their diagnosis. Median time from infection to diagnosis was 3 years in 2015. Cases of newly diagnosed HIV in the geriatric population are rare.

Case Presentation: 71 year old Hispanic man with history of diabetes and anemia presenting to the hospital with generalized weakness, presyncopal episodes, shortness of breath, loose stools, and falls for past two weeks. He is a poor historian so wife contacted to provide detailed history. Patient with 100 pound weight loss in 6 months. Intravenous drug use 30 years ago, and blood …

Mathematical Modeling Of Radiotherapy: Impact Of Model Selection On Estimating Minimum Radiation Dose For Tumor Control, Achyudhan R Kutuva, Jimmy J Caudell, Kosj Yamoah, Heiko Enderling, Mohammad U Zahid

Faculty, Staff and Student Publications

INTRODUCTION: Radiation therapy (RT) is one of the most common anticancer therapies. Yet, current radiation oncology practice does not adapt RT dose for individual patients, despite wide interpatient variability in radiosensitivity and accompanying treatment response. We have previously shown that mechanistic mathematical modeling of tumor volume dynamics can simulate volumetric response to RT for individual patients and estimation personalized RT dose for optimal tumor volume reduction. However, understanding the implications of the choice of the underlying RT response model is critical when calculating personalized RT dose.

METHODS: In this study, we evaluate the mathematical implications and biological effects of 2 …

Ccdc50 Promotes Tumor Growth Through Regulation Of Lysosome Homeostasis, Penghui Jia, Tian Tian, Zibo Li, Yicheng Wang, Yuxin Lin, Weijie Zeng, Yu Ye, Miao He, Xiangrong Ni, Ji'an Pan, Xiaonan Dong, Jian Huang, Chun-Mei Li, Deyin Guo, Panpan Hou

Faculty, Staff and Student Publications

The maintenance of lysosome homeostasis is crucial for cell growth. Lysosome-dependent degradation and metabolism sustain tumor cell survival. Here, we demonstrate that CCDC50 serves as a lysophagy receptor, promoting tumor progression and invasion by controlling lysosomal integrity and renewal. CCDC50 monitors lysosomal damage, recognizes galectin-3 and K63-linked polyubiquitination on damaged lysosomes, and specifically targets them for autophagy-dependent degradation. CCDC50 deficiency causes the accumulation of ruptured lysosomes, impaired autophagic flux, and superfluous reactive oxygen species, consequently leading to cell death and tumor suppression. CCDC50 expression is associated with malignancy, progression to metastasis, and poor overall survival in human melanoma. Targeting CCDC50 …

Sox7-Positive Endothelial Progenitors Establish Coronary Arteries And Govern Ventricular Compaction, Ivy Kn Chiang, David Humphrey, Richard J Mills, Peter Kaltzis, Shikha Pachauri, Matthew Graus, Diptarka Saha, Zhijian Wu, Paul Young, Choon Boon Sim, Tara Davidson, Andres Hernandez-Garcia, Chad A Shaw, Alexander Renwick, Daryl A Scott, Enzo R Porrello, Emily S Wong, James E Hudson, Kristy Red-Horse, Gonzalo Del Monte-Nieto, Mathias Francois

Faculty, Staff and Students Publications

The cardiac endothelium influences ventricular chamber development by coordinating trabeculation and compaction. However, the endothelial-specific molecular mechanisms mediating this coordination are not fully understood. Here, we identify the Sox7 transcription factor as a critical cue instructing cardiac endothelium identity during ventricular chamber development. Endothelial-specific loss of Sox7 function in mice results in cardiac ventricular defects similar to non-compaction cardiomyopathy, with a change in the proportions of trabecular and compact cardiomyocytes in the mutant hearts. This phenotype is paralleled by abnormal coronary artery formation. Loss of Sox7 function disrupts the transcriptional regulation of the Notch pathway and connexins 37 and 40, …

Blood-Based Transcriptomic Biomarkers Are Predictive Of Neurodegeneration Rather Than Alzheimer's Disease, Artur Shvetcov, Shannon Thomson, Jessica Spathos, Ann-Na Cho, Heather M Wilkins, Shea J Andrews, Fabien Delerue, Timothy A Couttas, Jasmeen Kaur Issar, Finula Isik, Simranpreet Kaur, Eleanor Drummond, Carol Dobson-Stone, Shantel L Duffy, Natasha M Rogers, Daniel Catchpoole, Wendy A Gold, Russell H Swerdlow, David A Brown, Caitlin A Finney

Faculty, Staff and Student Publications

Alzheimer's disease (AD) is a growing global health crisis affecting millions and incurring substantial economic costs. However, clinical diagnosis remains challenging, with misdiagnoses and underdiagnoses being prevalent. There is an increased focus on putative, blood-based biomarkers that may be useful for the diagnosis as well as early detection of AD. In the present study, we used an unbiased combination of machine learning and functional network analyses to identify blood gene biomarker candidates in AD. Using supervised machine learning, we also determined whether these candidates were indeed unique to AD or whether they were indicative of other neurodegenerative diseases, such as …

Normal Values Of Nerve Conduction Studies In Children Aged 7 Days To 14 Years Referred To Electrodiagnosis Clinic Of Iranian Children’S Medical Center, Masood Ghahvechi Akbari, Fazel Mahmoodpoor, Mahmoodreza Ashrafi, Elahe Rezaee, Sahar Ghorbanpour, Seyede Zahra Emami Razavi, Mohaddeseh Azadvari, Reza Shervin Badv, Gholamreza Zamani, Ali Reza Tavasoli, Morteza Heidari, Zahra Rezaei, Setareh Rohani, Mahmoud Mohammadi

Jefferson Institute of Molecular Medicine Papers and Presentations

Background: The normal values of nerve conduction studies (NCS) are different in children compared to adults. Moreover, racial and geographical factors can affect these values.

Objectives: The present study aimed to investigate the normal NCS values in children of different ages.

Methods: The present cross-sectional study included children referred to the Electrodiagnosis Clinic of the Children’s Medical Center in Iran, who had normal NCS results based on the references and had no exclusion criteria. The patients were divided into 8 age groups (7 days to one month, 1 - 3 months, 3 - 6 months, 6 - 12 months, 1 …

The Neuroimmune Regulation And Potential Therapeutic Strategies Of Optic Pathway Glioma, Khushboo Irshad, Yu-Kai Huang, Paul Rodriguez, Jung Lo, Benjamin E Aghoghovwia, Yuan Pan, Kun-Che Chang

Faculty, Staff and Student Publications

Optic pathway glioma (OPG) is one of the causes of pediatric visual impairment. Unfortunately, there is as yet no cure for such a disease. Understanding the underlying mechanisms and the potential therapeutic strategies may help to delay the progression of OPG and rescue the visual morbidities. Here, we provide an overview of preclinical OPG studies and the regulatory pathways controlling OPG pathophysiology. We next discuss the role of microenvironmental cells (neurons, T cells, and tumor-associated microglia and macrophages) in OPG development. Last, we provide insight into potential therapeutic strategies for treating OPG and promoting axon regeneration.

Insulin In Combination With N-Acetylcysteine Protects Hypoxia-Induced Toxicity In 661w Cells, Lili M. Guerra, Laura Valdez, Benxu Cheng, Andrew Tsin

Research Colloquium

Background: Proliferative diabetic retinopathy (PDR) is the leading cause of blindness among working-age adults. Photoreceptors are the most numerous and metabolically demanding cells in the retina thus oxygen is essential for retinal function. It has been reported that photoreceptors found in rat retina are specifically vulnerable to hypoxia. Hypoxia-induced metabolic stress leads to photoreceptor atrophy and retinopathy. Furthermore, photoreceptor cell death is known to occur mainly through apoptosis. However, the protection of hypoxia-induced-cytotoxicity in cone photoreceptor cells has not been investigated extensively. The aim of this study was to determine whether co-treatment of insulin and the N-Acetyl-L-Cysteine (NAC) (a free …

Catheter-Associated Urinary Tract Infections: Patient Characteristics, Treatment, And Clinical Outcomes In One South Texas Acute Care Hospital, Kimberly A. Ambrosini, Jose Campo Maldonado

Research Colloquium

Background: Catheter-associated urinary tract infections (CA-UTIs) account for 40 percent of nosocomial infections worldwide. Their elimination is at the forefront of quality improvement in one South Texas acute care hospital.

Methods: Over a period of 6 months, five CA-UTIs occurred in one South Texas acute care hospital. These cases were identified via regular surveillance by Infection Prevention staff and the Laboratory Department of the hospital. This research reviews patient age, sex, length of stay, bacteria contracted, appropriate antibiotic use, patient characteristics, and overall outcomes.

Results: Between the months of July and December 2021, 5 CAUTIs were contracted. Patients ranged in …

Gene By Environment Interaction And Metabolic-Associated Fatty Liver Disease In Mexican American Patients With Depression, Khalid Sheikh, Vincent P. Diego, Sandra L. Laston, Eron G. Manusov, Sarah Williams-Blangero, John Blangero

Research Colloquium

Knowledge of genetic and environmental (G x E) interaction effects on metabolic-associated fatty liver disease (MAFLD) is limited. The purpose of this study was to examine the impact of G x E interaction effects on MAFLD in Mexican Americans in the Rio Grande Valley (RGV). The environment examined was depression as measured by the Beck Depression Inventory-II (BDI-II). We examined potential G x E interaction in the phenotypic expression of MAFLD, including hepatic steatosis and hepatic fibrosis, using variance component models and likelihood-based statistical inference. Significant G x E interactions were identified for hepatic fibrosis x BDI-II. These findings provide …

Penile Calciphylaxis In An End Stage Renal Disease Patient., Juan Enrique Garcia Lopez, Alain Velazquez Blanco, Aileen Aguilar, Sareena Siyas, Daniel Ibarias Paz, Mays Abdulazeez, Jesus Garza-Tamez, Desmond Adamu

Research Colloquium

Background: Penile Calciphylaxis occurs in about 1–4% of hemodialysis patients worldwide. Associated mortality rates are very high, and hyperparathyroidism is the second most frequently associated disorder. Addressing the resulting metabolic imbalance, and surgical intervention guided by findings of radiological studies may improve quality of life. The pathogenesis is thought to be mediated by vascular smooth muscle cells which differentiate into osteoblast-like cells. Decrease in vascular calcification inhibitory proteins fetuin-A and matrix Gla is found in patients on dialysis causing systemic medial calcification of arterioles, leading to epidermal ischemia, tissue infarction, and ulceration.

Case presentation: 47-year-old male with history of coronary …

Medical Imaging Applications Of Federated Learning, Sukhveer Singh Sandhu, Hamed Taheri Gorji, Pantea Tavakolian, Kouhyar Tavakolian, Alireza Akhbardeh

Faculty, Staff and Student Publications

Since its introduction in 2016, researchers have applied the idea of Federated Learning (FL) to several domains ranging from edge computing to banking. The technique's inherent security benefits, privacy-preserving capabilities, ease of scalability, and ability to transcend data biases have motivated researchers to use this tool on healthcare datasets. While several reviews exist detailing FL and its applications, this review focuses solely on the different applications of FL to medical imaging datasets, grouping applications by diseases, modality, and/or part of the body. This Systematic Literature review was conducted by querying and consolidating results from ArXiv, IEEE Xplorer, and PubMed. Furthermore, …