Digital Commons Network^™

A Rare And Challenging Polymicrobial Pleural Infection Involving Cupriavidus Pauculus In A Patient With Rheumatoid Arthritis And Multiple Complications, Moiz Ahmed Khan, Syeda Samiya Kamal, Muhammad Muneeb, Summaya Zafar

The University of Louisville Journal of Respiratory Infections

A 58-year-old female with a 15-year history of rheumatoid arthritis (RA) and a history of treatment consisting of methotrexate, hydroxychloroquine, leflunomide, and chronic prednisolone therapy, presented with fever, productive cough, dyspnea, and left leg cellulitis. She developed septic shock complicated by tension pneumothorax requiring emergency thoracostomy and non-ST-elevation myocardial infarction (NSTEMI). Pleural fluid culture grew Cupriavidus pauculus, a rare environmental gram-negative bacillus, alongside Burkholderia cepacia and Candida parapsilosis, indicating polymicrobial infection which was most likely predisposed by patient's immunosuppressed state from RA and prolonged steroid use. Treatment consisted of trimethoprim/sulfamethoxazole, meropenem, fluconazole, and cardiopulmonary support, and culminated in …

Targeting Oxalate Production By Combining Enzyme Inhibition And Proteolysis Activation: A Novel Therapeutic Approach For Primary Hyperoxaluria Type 1, Fabio Arias, Sumati Rohilla, Yudibeth Sixto-López, Koral S E Richard, Sandeep Das, Sumit K Anand, Pilar Maria Luque-Navarro, Guillermo Bañuelos-Sanchez, Juan Luis Pacheco-García, Reethika Gade, M Peyton Mckinney, Dhananjay Kumar, Jemiah Maxie, W Rylan Corr, Nilesh Pandey, Harpreet Kaur, Jibin Ding, Lin Tan, Elisha Scott, Hyung Nam, Eyal Gottlieb, A Wayne Orr, Nirav Dhanesha, Arif Yurdagul, Angel L Pey, Francisco Franco-Montalbán, José A Gómez Vidal, Oren Rom, Mónica Díaz-Gavilán

Faculty, Staff and Student Publications

Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder caused by hepatic oxalate overproduction due to alanine-glyoxylate aminotransferase (AGXT) deficiency. Therapeutic strategies targeting glycolate oxidase (GO) and lactate dehydrogenase A (LDHA), key enzymes in glyoxylate metabolism, have shown promise in reducing oxalate burden. However, recently approved siRNA therapies remain limited by high cost, unfavorable pharmacokinetics, and limited global accessibility. We report the development of compound 2, a dual GO/LDHA inhibitor (K i = 390 and 40 nM, respectively) that also promotes hydrophobic tag-mediated autophagic degradation of LDHA. Its efficacy was evaluated in Agxt –/– mice, both in primary …

A Framework For Assessing The Trustworthiness Of Scientific Research Findings, Brian A Nosek, David B Allison, Kathleen Hall Jamieson, Marcia Mcnutt, A Beau Nielsen, Susan M Wolf

Children’s Nutrition Research Center Staff Publications

Vigorous debate has erupted over the trustworthiness of scientific research findings in a number of domains. The question "what makes research findings trustworthy?" elicits different answers depending on whether the emphasis is on research integrity and ethics, research methods, transparency, inclusion, assessment and peer review, or scholarly communication. Each provides partial insight. We offer a systems approach that focuses on whether the research is accountable, evaluable, well-formulated, has been evaluated, controls for bias, reduces error, and whether the claims are warranted by the evidence. We tie each of these components to measurable indicators of trustworthiness for evaluating the research itself, …

High-Throughput Multi-Organ Proteomics Workflow For Drug Efficacy And Toxicity Analysis, Yun Xiong, Lin Tan, Wai-Kin Chan, Dandan Zhu, Huimin Zhang, Eric S Yin, Sri Ramya Donepudi, Jibin Ding, Bo Wei, Bao Tran, Sara Martinez, Iqbal Mahmud, Faiza Hanif Waghu, Hamish I Stewart, Daniel J Hermanson, Rehan Akbani, John N Weinstein, Junjie Chen, Philip L Lorenzi

Faculty, Staff and Student Publications

Rapid and comprehensive analysis of complex proteomes across large sample sets is vital for unlocking the potential of systems biology. We present a high-throughput mass spectrometry (MS) proteomics method that integrates narrow-window data-independent acquisition (nDIA) with short-gradient micro-flow chromatography, enabling profiling of >240 samples per day. This optimized MS approach identifies 6,201 and 7,466 human proteins with 1- and 2-min gradients, respectively. As a practical application, we analyzed 507 samples composed of 13 different tissues from mice treated with the enzyme-drug L-asparaginase (ASNase) or its glutaminase-free Q59L mutant, generating a quantitative profile of 11,472 proteins following drug treatment. The MS …

Impaired Arginine, Citrulline And Glutamine Metabolism In Type 2 Diabetes: Insights From A Stable Isotope Study, Mustafa Tosur, Raven A Wierzchowska-Mcnew, Nicolaas E P Deutz, Mariëlle P K J Engelen

Children’s Nutrition Research Center Staff Publications

Context: Arginine (Arg) is an important amino acid in T2D as a potent insulin secretagogue and precursor for nitric oxide (NO). Citrulline (Cit), the substrate for de novo Arg synthesis, is mostly produced from glutamine (Gln).

Objective: We aimed to investigate their metabolism in T2D using novel stable isotope tracer approach.

Methods: We studied 42 individuals (21 with T2D, 21 controls). After overnight fasting, blood samples were collected following pulse administration of stable amino acid tracers. Plasma concentrations and isotopic enrichments were measured by LC-MS/MS, and compartmental analyses were performed to calculate their whole-body production (WBP) rates and kinetics.

Results: …

Dupilumab Beyond The Airway: Decreased Morbidity In A Real-World Analysis, Emma J. Anisman, Spencer Short, Emma Tam, Benjamin F. Bitner, Abdulghafoor Alani, Marc Rosen, Mindy Rabinowitz, Damaris Pena Evertz, Elina Toskala, Gurston G. Nyquist

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Background: Post hoc analyses of clinical trials have characterized dupilumab's adverse effects, yet the real-world impact in chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma is not well described. This study aims to characterize the risks of lymphoma, cardiovascular events, eosinophilia, joint pain, inflammatory arthritis, and sleep apnea in dupilumab-treated CRSwNP and/or asthma patients compared to those not taking dupilumab, and to other biologics.

Methods: This retrospective cohort study used TriNetX, a de-identified database containing over 100 million patient records. Demographics and adverse effects associated with immunotherapy use were collected.

Results: We identified 21,249 dupilumab-treated CRSwNP and/or asthma patients. After …

Genome And Transcriptome-Wide Analyses Identify Multiple Candidate Genes And A Significant Polygenic Contribution In Bicuspid Aortic Valve, Sébastien Thériault, Jacob A Holdcraft, Dinara Sharipova, Adèle Faucherre, Radoslaw M Debiec, Gina M Peloso, Baravan Al-Kassou, Sary Aranki, Elena Ashikhmina Swan, Andrea Ballotta, Michele Bellino, Hanna M Björck, Anne Sophie Boureau, Peter S Braund, François Corriveau, François Dagenais, Lasse Folkersen, Amalia Forte, Michael D Francke, Alessandro Frigiola, Svetlana Gorbatov, Dongchuan Guo, Karam M Habchi, Mahyar Heydarpour, Eric M Isselbacher, Chris Jopling, Fabien Laporte, Solena Le Scouarnec, Zhonglin Li, Peter Lichtner, Carlo Maj, Hasanga D Manikpurage, Christopher P Nelson, Thy B Nguyen, Russell A Norris, Chin Siang Ong, Philippe Pibarot, Tanmoy Roychowdhury, Berardo Sarubbi, Floriane Simonet, Thoralf Sundt, Ida Surakka, Idit Tessler, Cristen J Willer, Susanne Wittmann, Bo Yang, Igor Berezovets, Stefanie A Doppler, Martina Dreßen, Katharina Knoll, Thomas Puehler, Heribert Schunkert, Jean-François Avierinos, Malenka M Bissell, Aidan P Bolger, Yohan Bossé, Eduardo Bossone, María Brion, Rodolfo Citro, Carlo De Vincentiis, G Michael Deeb, Alessandro Della Corte, Christian Dina, Ronen Durst, Stephan Ensminger, Per Eriksson, Arturo Evangelista, Anders Franco-Cereceda, Dan Gilon, Betti Giusti, Simon L Hetherington, Gordon S Huggins, Markus Krane, Thierry Le Tourneau, Giuseppe Limongelli, Patrick Mathieu, David Messika-Zeitoun, Hector I Michelena, Dianna Milewicz, Jochen D Muehlschlegel, David R Murdock, Georg Nickenig, Stefano Nistri, Markus M Nöthen, Francesca Pluchinotta, Siddharth K Prakash, Nilesh J Samani, Jean-Jacques Schott, Tom R Webb, Stéphane Zaffran, Salim Abdelilah-Seyfried, Kim Eagle, Johannes Schumacher, Teresa Trenkwalder, Simon Body

Faculty, Staff and Student Publications

Background: Bicuspid aortic valve (BAV) is a frequent congenital heart defect with a high heritability. Despite this, only a limited number of genes have been associated with the disease, and the molecular mechanisms remain unexplained in most cases. This study aimed to further understand the genetic architecture of BAV.

Methods: A genome-wide association study meta-analysis including 9631 cases among 65 677 participants was performed. Genes were prioritized using transcriptomic analyses based on RNA sequencing in relevant tissues, including human fetal and adult aortic valves. The impact of the knockdown or knockout of 4 candidate genes on cardiac development was verified …

Defining Clinically Relevant Responses In Erectile Function: An Smsna Position Statement, Landon Trost, Faysal Yafi, Alan Shindel, Mohit Khera, Raymond C Rosen, Petar Bajic, Helen Bernie, Martin Gross, Johanna Hannan, Sevann Helo, Lawrence Jenkins Ii, Carol Podlasek, Daniel Watter, Matthew Ziegelmann, Tobias Köhler

Faculty, Staff and Students Publications

Background: To date, no scoring system has adequately defined clinical efficacy of erectile dysfunction (ED) therapies when evaluating differences between cohorts or in meta-analytic studies.

Aim: To outline the minimal criteria required for any therapy to be considered clinically effective in the treatment of ED.

Methods: An analytic review was performed of standardized ED questionnaires, with a particular emphasis placed on the International Index of Erectile Function, Erectile Function Domain (IIEF-EFD), and the minimally clinically important difference (MCID) concept. The data were used to create a societal position statement and recommendations on best practices within clinical trials to determine treatment …

Roux-En-Y Duodenojejunostomy As Surgical Treatment For Congenital Duodenal Obstruction: A Case Report, Ahmad Yani, Albireza Ruhimat

The New Ropanasuri Journal of Surgery

Introduction. Congenital duodenal obstruction is an anatomical abnormality in newborns. Various intrinsic and extrinsic etiologies can cause duodenal obstruction. The surgical treatment that is commonly performed on duodenal obstruction in neonates is duodenoduodenostomy. However, several etiological conditions, such as preduodenal portal vein (PDPV) and pancreatic annulare cause duodenoduodenostomy nearly impossible to perform, so an alternative surgery procedure with a good outcome is necessary.

Case Illustration. A female neonate had been suspected congenital duodenal obstruction since pregnancy due to polyhydramnios. An OGT was inserted with greenish yellow residue after the baby was born. Based on abdominal x-ray examination, a …

Identification Of A Cytokine Biomarker For Prognostic Modeling Of Breast Cancer-Related Lymphedema, Alison J Wu, Neil Lin, Jie Su, Cherie Lin, Madison-Shira Hossack, Wei Shi, Farnoosh Abbas-Aghababazadeh, Wei Xu, Benjamin Haibe-Kains, Simona F Shaitelman, Melissa B Aldrich, Fei-Fei Liu, Jennifer Y Y Kwan

Faculty, Staff and Student Publications

Lymphedema is a chronic complication of breast cancer treatment, and early intervention is crucial to reduce morbidity. This study evaluated the role of blood-based cytokine biomarkers in the prognostication of breast cancer-related lymphedema (BCRL) to improve risk prediction. A secondary analysis of inflammatory biomarkers for BCRL was performed using a previously published cohort of 147 breast cancer patients who had undergone serum cytokine profiling during their treatment at the Princess Margaret Cancer Centre from 2010-2014. Prognostic cytokine variables for lymphedema were selected by regression analysis and independence from known clinical risk factors. Regression-based modeling was employed to integrate prognostic variables …

Effects Of Bungee-Based Training On Physical Performance And Arch Jump Kinematics In Female College Rhythmic Gymnasts, Nasser Abouzeid, Mariola Gepfert, Abdulrahman I. Alaqil, Abdulmalek K. Bursais, Hussein Hashoos, Mohammed S. Alibrahim, Labeeb Z. Moseekh, Amr S. Hamza

Baltic Journal of Health and Physical Activity

Background: The purpose of this study was to examine the effects of an eight-week bungee-based training program on selected physical performance variables and arch jump kinematics in female college rhythmic gymnasts. Material and methods: Eighteen female college students (age: 18.1 ± 0.9 years) were randomly assigned to an experimental group (EG; n = 9) or a control group (CG; n = 9). The EG completed a bungee workout training program three times per week for eight weeks, while the CG followed a traditional rhythmic gymnastics training program. Physical performance variables included vertical jump, leg strength, back strength, standing long jump, …

The Next Layer: Augmenting Foundation Models With Structure-Preserving And Attention-Guided Learning For Local Patches To Global Context Awareness In Computational Pathology, Muhammad Waqas, Rukhmini Bandyopadhyay, Eman Showkatian, Amgad Muneer, Anas Zafar, Frank R Alvarez, Maricel Corredor Marin, Wentao Li, David Jaffray, Cara Haymaker, John V Heymach, Natalie Vokes, Luisa M Solis Soto, Jianjun Zhang, Jia Wu

Faculty, Staff and Student Publications

Foundation models have emerged as powerful feature extractors in computational pathology. However, they typically omit mechanisms for leveraging the global spatial structure of tissues and the local contextual relationships among diagnostically relevant regions-key elements for understanding the tumor microenvironment. Multiple instance learning (MIL) remains an essential next step following the foundation model, designing a framework to aggregate patch-level features into slide-level predictions. We present EAGLE-Net, a structure-preserving, attention-guided MIL architecture designed to augment prediction and interpretability. EAGLE-Net integrates multi-scale absolute spatial encoding to capture global tissue architecture, a top-K neighborhood-aware loss to focus attention on local microenvironments, and background suppression …

Two Faces Of Mitral Stenosis: Uncovering Structural And Hemodynamic Signatures Of Rheumatic And Mitral Annular Calcification-Induced Disease, Mohammad S. Hashemi, Peter Abdelmaseeh, Atif Nehvi, Gregg S. Pressman, Arash Kheradvar

Einstein Health Papers

BACKGROUND: Mitral annular calcification (MAC) is common and associated with increased cardiovascular risk and, when severe, mitral stenosis (MS). MAC-related MS differs anatomically and hemodynamically from rheumatic MS (RMS), challenging standard diagnostic methods. This study compares structural and flow characteristics, including  kinetic energy losses, across MAC-related MS, RMS, and normal mitral valves, and evaluates the applicability of conventional diagnostic metrics in MAC.

METHODS: Three-dimensional transesophageal echocardiographic data sets from 70 patients (22 normal mitral valves, 26 RMS valves, 22 MAC valves) were used to obtain linear, area, and volumetric measurements for valve comparison. Representative valves from each group were converted …

Systematic Evaluation Of Batch Effects In The Cancer Genome Atlas Program Underscores The Need For Batch-Controlled Analysis, Zhongxuan Chen, Stepan Nersisyan, Isidore Rigoutsos, Eric Londin

Alpha Omega Alpha Research Symposium Posters

Purpose: To systematically assess the impact of batch effects on differential expression of isomiR, mRNA, and non-coding RNA (sncRNA) across 13 The Cancer Genome Atlas (TCGA) cancer types and develop a standardized, batch-controlled analysis protocol for TCGA datasets.

Methods: Data analysis and visualization were performed using Python v3.12. Plots were generated using matplotlib and seaborn. isomiR, mRNA, and sncRNA sequences across 13 TCGA cancer types were used. Principal Component Analysis (PCA) was performed using scikit-learn for dimensionality reduction. Differential expression was conducted using DESeq2 under the following protocols: 1) primary tumor samples vs matched normal samples processed in the same …

Clinician Perceptions Of Barriers And Strategies To Improve Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Fabliha Khurshan, Samuel Gidding, Varsha Zadokar, Jonathan M Miller, Anne E Kazak

Department of Pediatrics Faculty Papers

IMPORTANCE: Pediatric hypertension remains underrecognized despite its high prevalence (approximately 5%) and long-term cardiovascular implications. Although guidelines for screening and diagnosis exist, less than 25% of affected children are diagnosed, and more than half do not receive timely follow-up care. Clinician-specific implementation barriers and directly informed strategies, which may alleviate this gap, are insufficiently described.

OBJECTIVE: To identify clinician-reported barriers and actionable recommendations to improve pediatric hypertension detection and follow-up in primary care using the Consolidated Framework for Implementation Research.

DESIGN, SETTING, AND PARTICIPANTS: Semistructured qualitative interviews were conducted between November 1, 2022, and March 31, 2023, with health care …

Cd8+ T Cells In The Tumor Microenvironment Modulate The Response To Endocrine Therapy In Breast Cancer, Fabiana Napolitano, Yunguan Wang, Dhivya R Sudhan, Paula I Gonzalez-Ericsson, Luigi Formisano, Nisha Unni, Shahbano Shakeel, James Z Zhu, Khushi Ahuja, Lei Guo, María Rosario Chica-Parrado, Yuki Matsunaga, Pamela Luna, Chang-Ching A Lin, Yasuaki Uemoto, Kyung-Min Lee, Hongli Ma, Nathaniel J Evans, Alberto Servetto, Saurabh Mendiratta, Spencer D Barnes, Roberto Bianco, Yisheng V Fang, Lin Xu, Jeon Lee, Tao Wang, Justin M Balko, Gordon B Mills, Marilyne Labrie, Ariella B Hanker, Carlos L Arteaga

Faculty, Staff and Student Publications

The role of the tumor immune microenvironment (TIME) in modulating responses to antiestrogen therapy in hormone receptor-positive (HR+) breast cancers remains unclear. We analyzed pre- and on-treatment biopsies from patients with HR+ breast cancer treated with letrozole to induce estrogen deprivation (ED). Stromal tumor-infiltrating lymphocytes, assessed by H&E staining, and immune-related gene sets, including IFN-γ signaling genes, measured by RNA-Seq, were increased in ED-resistant tumors. Cyclic immunofluorescence and spatial transcriptomics revealed an abundance of CD8+ T cells and enhanced antigen processing and immune gene signatures in ED-resistant tumors. In this group, the expression of CXCL9, CXCL10, and CXCL11 - chemokine …

Lysine Demethylase 4a (Kdm4a) Maintains Basal Body Architecture And Protects Against Ciliary Destabilization, Manga Motrapu, Lindsey Hudson, Pratim Chowdhury, Xiaoli Wang, Yuya Nakatani, Sofia Vargas-Hernandez, Sung Y Jung, Menuka Karki, Cheryl Walker, Anna-Karin Gustavsson, Ruhee Dere

Faculty, Staff and Students Publications

Primary cilia are sensory organelles essential for signaling and defects in formation, maintenance or structure underlie diverse ciliopathies. Here, we identify lysine demethylase 4A (KDM4A) as a previously unrecognized mediator of ciliogenesis. Using genetic depletion and pharmacologic inhibition, we show that KDM4A is required for cilia assembly and maintenance. Super-resolution imaging reveals KDM4A localization at the basal body, where it distinctively wraps around the centrioles. We uncover a direct interaction between KDM4A and Rootletin (CROCC), a structural protein mediating centriole cohesion, and demonstrate that KDM4A loss increases inter-centriolar distances, implicating basal body architecture in ciliary failure. Together, these findings define …

Evidence Based Management Of High Ldl-C For Prevention Of Atherosclerotic Cardiovascular Disease In Adult Patients In Resident Run Clinic: A Qi Project, Astha Prasai, Sahej Manesh Singh Arora, Hafsa Jawaid, Aakriti Jain, Omofolarin Babayale, Nauman Naeem, Hina Ukrani, Nawid Latifi, Binita Neupane, Soon-Il Song, Gaurav Sharma

Advances in Clinical Medical Research and Healthcare Delivery

Background:

Atherosclerotic cardiovascular disease (ASCVD) remains the leading cause of death worldwide and in the United States, with significant healthcare and economic burden. Despite clear guideline recommendations, the implementation of ASCVD risk assessment and statin use for primary prevention remains suboptimal.

Methods:

A quality improvement project was conducted at a resident run clinic with an objective to improve ASCVD risk documentation and guideline-based lipid management. A total of 600 patients aged 40-75 years without a history of cardiovascular disease were randomly selected- 300 in the pre-intervention group and 300 in the post-intervention group. The intervention included didactic sessions and quick …

An Exploratory Study Of Social Determinants And Pediatric Lead Exposure In Chemung County, Ny, Jenna Mccracken, Anika Stundtner, Megan Kerbag, Madison Desantis, Jennifer Coseo, Richard Terry

Advances in Clinical Medical Research and Healthcare Delivery

Background: Lead exposure in children is a persistent public health concern due to its irreversible neurological and developmental effects. Children under 6 years old are particularly vulnerable due to frequent hand-to-mouth activity and increased environmental exposure. Existing literature suggests a relationship between adverse social determinants of health (SDOH), such as low parental education and residence in high-poverty areas, and elevated pediatric blood lead levels (BLLs). This study, subsidized through a community service grant from Excellus Blue Cross Blue Shield, aimed to examine the association between BLLs and SDOH among children screened at the ACCEL Community Health Clinic in Chemung County, …

Hallucinations And Diabetes – Could It Be The Hip? An Interesting Case Of Cobalt Poisoning, Mahrukh Tariq, Zauraiz Anjum

Advances in Clinical Medical Research and Healthcare Delivery

Cobalt (Co) poisoning has been described historically in beer-drinkers when cobalt was used as an additive. In present times, this type of poisoning is usually caused by occupational exposure or metal prosthesis breakdown. We present a case of Co poisoning from metal prosthesis breakdown with exceptionally high levels, and thus, some unique symptoms. Interestingly our patient not only had symptoms commonly associated with Co poisoning, e.g., paresthesia, sensory-neural hearing loss, acute kidney failure, but also developed new onset diabetes, which is not commonly associated with this type of pathology. Moreover, when we had this patient under our care, we had …

Late Bioprosthetic Valve Migration- A Rare Entity After Tavi, Sahej Arora, Ghazi Khan, Jeremiah Depta

Advances in Clinical Medical Research and Healthcare Delivery

We present a case of hemolytic anemia due to a rare complication of late bioprosthetic valve migration, who underwent successful treatment with valve in valve transcatheter aortic valve implantation. Our patient with symptomatic moderate aortic stenosis underwent the index procedure a year ago and treated for bacteremia 3 months ago, presented with hemolytic anemia and echocardiography revealing aortic paravalvular leak. The hemolysis was attributed to Bioprosthetic valve dysfunction after a negative hematological workup. The patient's aortography revealed ventricular migration of the valve, not seen on a cardiac CT scan performed before. This was followed by a successful valve in valve …

Neuroinflammation And Its Role In Depression– A Review Of Emerging Biomarkers And Therapeutic Targets, Sophia M. Valerino

Advances in Clinical Medical Research and Healthcare Delivery

Major depressive disorder (MDD) is a prevalent and debilitating mental illness that affects millions globally. Traditionally, the pathophysiology of MDD was thought to be due primarily neurotransmitter imbalances. However, emerging research highlights the role of neuroinflammation in MDD pathogenesis. Elevated levels of pro-inflammatory cytokines, microglial activation, and blood-brain barrier dysfunction have been implicated in the etiology of MDD. Additionally, biomarkers such as C-reactive protein and neuroimaging findings further support the neuroinflammatory hypothesis. This growing body of evidence has led to increased interest in novel treatment approaches, including anti-inflammatory medications and lifestyle interventions, as potential therapeutic strategies. While selective serotonin reuptake …

A Minimally Invasive Palliative Approach Using Radiofrequency Ablation And Cementoplasty In A Painful Metastatic Acetabular Lesion, Liliya S. Agarkov, Korinne Diss, Garrett C. Schneider

Advances in Clinical Medical Research and Healthcare Delivery

Up to 75% of patients with advanced metastatic disease experience excruciating pain that affects their daily life. We elaborate on a case of a 63-year-old male with Stage IV squamous cell lung carcinoma with advanced osseous metastatic lesions who presented with symptoms of ambulatory dysfunction due to a lesion in the right acetabulum. This case report demonstrates how radiofrequency ablation can offer pain relief through meticulous ablation of a metastatic lesion without the necessity and negative side effects of external beam radiation.

Bilateral Congenital Radioulnar Synostosis - Case Report, Derek A. Diangelis, Matthew J. Hudson

Advances in Clinical Medical Research and Healthcare Delivery

A 2-year-old male presented to an orthopedic outpatient office due to a supination defect in both of his upper limbs. X-rays of the affected limbs revealed fusion of the proximal radioulnar joints indicating congenital radioulnar synostosis (CRUS). CRUS is abnormal development of the upper limbs occurring during weeks 3—7 of embryological development. Causes of CRUS include genetic syndromes and spontaneous mutations. Treatment options include nonoperative and surgical treatments, however, treatment is controversial due to a lack of clinical evidence. Proposed screening methods could help improve detection rates and improve clinical management. This report aims to increase awareness of CRUS and …

Patient And Population Impacts Of Multigene Panel And Pembrolizumab Coverage In Metastatic Melanoma, Deirdre Weymann, Emanuel Krebs, Samantha Pollard, Melanie Mcphail, Ian Bosdet, Stephen Yip, Alison M. Weppler, Aly Karsan, Helen Anderson, Tania M. Bubela

Office of the Provost

Background: Targeted treatment or immunotherapy may yield increased, durable responses for melanoma patients. Whether patient-level benefits translate to population health is unknown. This study sought to estimate patient and population impacts of a cancer control policy that reimbursed multigene panel testing and pembrolizumab for metastatic melanoma in British Columbia, Canada.
Methods: This retrospective study examined a population-based cohort of 721 adults diagnosed with metastatic melanoma in British Columbia who received single or multigene testing between 2013 and 2018. We determined patient-level policy impacts using 1:1 genetic algorithm matching of policy-affected patients with historical control patients and Kaplan-Meier analysis and inverse …

Longitudinal Peripheral Blood Transcriptomics Reveal Novel Signatures During Cardiac Allograft Rejection., Rachad Ghazal, Min Wang, Akshatha N. Srinivas, Jenny J. Cao, Hridyanshu Vyas, Duan Liu, Asha Nair, Byron H. Smith, Li Wang, Daniel S. Yip, Parag C. Patel, David E. Steidley, Brian W. Hardaway, Alfredo L. Clavell, Sudhir S. Kushwaha, Walter D. Park, Mark D. Stegall, Howard Eisen, Naveen L. Pereira

Division of Cardiology Faculty Papers

Background: Acute cellularrejection (ACR) remains a major cause of morbidity afterhearttransplantation despite advances in immunosuppression. Whole genometranscriptomicprofiling offers a systems-based, unbiased approach to elucidate the molecular mechanisms underlying ACR. However, noninvasive,longitudinal biomarker assessments capable of capturing the temporal dynamics ofrejection biology remain scarce.

Methods: RNA sequencing ofperipheralblood fromheart transplant recipients before, during, and after ACR was compared with nonrejection controls. Pathway analysis was conducted using differentially expressed genes (DEGs), and a machine learning approach was applied to assessgene-based prediction of ACR.

Results: A total of 235 rejection-specific significant DEGs and 863 postrejection DEGs (false discovery rate < 0.05) were identified. During ACR, DEGs were enriched for T-cell activation/differentiation, apoptosis, and B-cell receptor signaling pathways. By combining the 2 sets of DEGs, a panel of 71 common genes was identified that reflected the significant, longitudinal transcriptomic dynamics of ACR. In an elastic net machine learning-based classifier, DYNLL1 and SERF2 were …

Intraoperative Care And Complications Of Symptomatic Adolescent And Young Adult Patients Undergoing Laparoscopy To Diagnose And/Or To Treat Endometrioses: A Multi-Institutional Review., Jacquelyn R. Evans, Katherine Bergus, Lindsey Asti, Lesley L. Breech, Ruiqi Cen, Yuan Yuan Gong, S Paige Hertweck, Holly R. Hoefgen, Anne H. Horne, Ashli A. Lawson, Seema Menon, Kathleen E. O'Brien, Shashwati Pradhan, Brenna Rachwal, Yolanda R. Smith, Priya Suvarna, Sarah Van Son, Geri Hewitt

Manuscripts, Articles, Book Chapters and Other Papers

STUDY OBJECTIVE: This multi-institutional, retrospective study explores the risks of laparoscopy for diagnosis and treatment of endometriosis to facilitate shared medical decision-making in patients age < 22 years old with chronic pain considering surgery.

METHODS: A retrospective review of patients less than 22 years old who had surgically proven endometriosis at eight pediatric hospitals was completed. Patient demographics, operative interventions, concurrent procedures, and complications were evaluated.

RESULTS: There were 284 patients with pathologically confirmed endometriosis with a median age of 16.86 years (15.51, 18.06). During the index procedure, diagnostic biopsy alone was performed (35.92%), followed by ablation (29.93%), excision (20.07%), excision and ablation (12.68%), and cryoablation (1.41%). Most common …

Diagnostic Challenges Of Anomalous Left Coronary Artery From The Right Pulmonary Artery., Lavina Desai, Sanket Shah, Edo Bedzra, Christopher Mathis

Manuscripts, Articles, Book Chapters and Other Papers

• ALCAPA is a rare congenital heart defect seen in about one in 300,000 live births. • ALCARPA is an even rarer subset of ALCAPA with the LCA originating from the RPA. • Few cases report ALCARPA associated with coarctation of the aorta. • Coarctation and VSD may cause PH with antegrade LCA flow. • These defects are hard to diagnose and require coronary imaging before surgery.

A Case Report Of Milk-Alkali Syndrome Secondary To Excessive Antacid Use, Samir Beso, Layla Abubshait

Einstein Health Papers

INTRODUCTION: Milk-alkali syndrome is characterized by the triad of hypercalcemia, metabolic alkalosis, and acute kidney injury resulting from excessive intake of calcium and absorbable alkali. Despite falling out of prominence with the advent of modern ulcer treatments, milk-alkali syndrome has experienced a resurgence with the widespread availability of over-the-counter calcium preparations, which now account for up to 10% of hypercalcemia cases.

CASE REPORT: A 60-year-old man with multiple comorbidities presented to the emergency department with altered mental status after his scheduled kyphoplasty was canceled due to concerning neurological findings. Laboratory evaluation revealed severe hypercalcemia, marked metabolic alkalosis, and acute kidney …

The Use Of A Standardized Checklist For Image Acquisition: An Obstetric Ultrasound Quality Improvement Study, Ingrid Gichere, Nidhi Leekha, Sikolia Wanyonyi

Obstetrics and Gynaecology, East Africa

Introduction A complete anatomical survey during the mid-trimester ultrasound is critical for detecting fetal anomalies. In sub-Saharan Africa, detection rates remain low, contributing to a significant disease burden. This study evaluated whether implementing a standardized electronic checklist, based on existing guidelines, would improve image acquisition.

Methods We carried out a pre- and post-intervention quasi-experimental quality improvement study. An electronic checklist replaced the previous ultrasound report template. A baseline review involved 385 mid-trimester scans conducted between November 2022 and December 2023. Following checklist implementation and targeted sonographer training, 238 scans were reassessed from July to December 2024. The image acquisition rate …