Digital Commons Network^™

Asn Kidney Health Guidance On The Management Of Obesity In Persons Living With Kidney Diseases, T Alp Ikizler, Holly J Kramer, Srinivasan Beddhu, Alex R Chang, Allon N Friedman, Meera N Harhay, Elizabeth Yakes Jimenez, Brandon Kistler, Aleksandra Kukla, Kristin Larson, Lindamarie U Lavenburg, Sankar Dass Navaneethan, John Ortiz, Rocio I Pereira, David B Sarwer, Philip R Schauer, Evan M Zeitler

Faculty, Staff and Students Publications

No abstract provided.

Access To Treatment For Chronic Obstructive Pulmonary Disease In The Americas: A Call For Action A Joint Perspective From The Brazilian Thoracic Society, Canadian Thoracic Society, Latin American Thoracic Society, And The American Thoracic Society, Francesca Polverino, Mohit Bhutani, Gustavo Zabert, Frederico Leon Arrabal Fernandes, Karen Czischke, Luiz Fernando Pereira Ferreira, Lian Szabo, Juan P Wisnivesky, Margareth Pretti Dalcolmo, Juan C Celedón

Faculty, Staff and Students Publications

Chronic obstructive pulmonary disease (COPD) is a major public health problem in the Americas (a region of the world comprising North, Central, and South America), although there is substantial variation in disease prevalence, morbidity, and mortality between and within nations. Across the Americas, COPD disproportionately affects vulnerable populations, including minoritized populations and impoverished persons, who are more likely to be exposed to risk factors such as tobacco use, air pollution, infections such as tuberculosis, and biomass smoke, but less likely to have adequate healthcare access. Management of COPD can be challenging across the Americas, with some barriers being specific to …

Bcl-Xl Is Translocated To The Nucleus Via Ctbp2 To Epigenetically Promote Metastasis, Tiantian Zhang, Sha Li, Yingcai Adrian Tan, Xiang Chen, Cheryl Zhang, Zhengming Chen, Bikash Mishra, Joseph Hyungjoon Na, Soyoung Choi, Sandra J Shin, Priyadarshan Damle, Kranthi Kumar Chougoni, Steven R Grossman, Dunrui Wang, Xuejun Jiang, Yi Li, Erika Hissong, Yao-Tseng Chen, Jenny Z Xiang, Yi-Chieh Nancy Du

Faculty, Staff and Students Publications

Nuclear Bcl-xL is found to promote cancer metastasis independently of its mitochondria-based anti-apoptotic activity. How Bcl-xL is translocated into the nucleus and how nuclear Bcl-xL regulates histone H3 trimethyl Lys4 (H3K4me3) modification have yet to be understood. Here, we report that C-terminal Binding Protein 2 (CtBP2) binds to Bcl-xL via its N-terminus and translocates Bcl-xL into the nucleus. Knockdown of CtBP2 by shRNA decreases the nuclear portion of Bcl-xL and reverses Bcl-xL-induced invasion and metastasis in mouse models. Furthermore, knockout of CtBP2 not only reduces the nuclear portion of Bcl-xL but also suppresses Bcl-xL transcription. The binding between Bcl-xL and …

Cohort Expansion And Genotype-Phenotype Analysis Of Rab11a-Associated Neurodevelopmental Disorder, Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C Swanson, Boris Keren, Sandra Whalen, Cyril Mignot, Xiaodong Wang, Qian Chen, Jill A Rosenfeld, Scott Mclean, Rebecca O Littlejohn, Undiagnosed Diseases Network, Lisa Emrick, Lindsay C Burrage, Ruben Attali, Gaetan Lesca, Cecile Acquaviva-Bourdain, Catherine Sarret, Laurie H Seaver, Konrad Platzer, Tobias Bartolomaeus, Cornelia Wünsch, Susann Fischer, Ana Maria Rodriguez Barreto, Jorge L Granadillo, Elisabeth Schreiner, Theresa Brunet, Ulrich A Schatz, Isabelle Thiffault, Sureni V Mullegama, Jacques L Michaud, Fadi F Hamdan, Elsa Rossignol, Philippe M Campeau

Faculty, Staff and Students Publications

Background: GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link between RAB11A variants and developmental and epileptic encephalopathy. In this study, we expand the phenotype of RAB11A-associated neurodevelopmental disorder and explore genotype-phenotype correlations.

Methods: We assessed 16 patients with pathogenic or likely pathogenic RAB11A variants, generally de novo, heterozygous missense variants. One individual had a homozygous nonsense variant, although concomitant with a pathogenic LAMA2 variant, which made their respective contributions to the phenotype difficult to discriminate.

Results: We reinforce the …

Biallelic Loss-Of-Function Variants In Ubap1l And Nonsyndromic Retinal Dystrophies, Ehsan Ullah, Siying Lin, Jiaxiong Lu, Chelsea Bender, Andrew R Webster, Samantha Malka, Savita Madhusudhan, Emma Rees, Denise Williams, Aime R Agather, Catherine A Cukras, Robert B Hufnagel, Rui Chen, Laryssa A Huryn, Gavin Arno, Bin Guan

Faculty, Staff and Students Publications

Importance: Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic basis underlying IRDs remains elusive. Addressing this gap seems important for gaining insights into the genetic landscape of IRDs, which may help improve diagnosis and prognosis and develop targeted therapies in the future.

Objective: To provide a clinical and molecular characterization of 6 patients with IRDs with biallelic disease-causing variants in a novel candidate IRD disease gene.

Design, setting, and participants: This multicenter case series study included 6 patients with …

Prognostic Stratification In Dlbcl Patients With Aberrant Myc Gene, Jian-Rong Li, Vikram R Shaw, Abi Parthasarathy, Yong Li, Christopher I Amos, Chao Cheng

Faculty, Staff and Students Publications

Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease characterized by a subset of patients who exhibit treatment resistance and poor prognoses. Genomic assays have been widely employed to identify high-risk individuals characterized by rearrangements in the MYC, BCL2 and BCL6 genes. These patients typically undergo more aggressive therapeutic treatments; however, there remains a significant variation in their treatment outcomes. This study introduces an MYC signature score (MYCSS) derived from gene expression profiles, specifically designed to evaluate MYC overactivation in DLBCL patients. MYCSS was validated across several independent cohorts to assess its ability to stratify patients based on MYC-related genetic …

A Scoping Review Of Geriatric Emergency Medicine Research Transparency In Diversity, Equity, And Inclusion Reporting, Anita N Chary, Michelle Suh, Edgardo Ordoñez, Lauren Cameron-Comasco, Surriya Ahmad, Alexander Zirulnik, Angela Hardi, Alden Landry, Vivian Ramont, Tracey Obi, Emily H Weaver, Christopher R Carpenter

Faculty, Staff and Students Publications

Introduction: The intersection of ageism and racism is underexplored in geriatric emergency medicine (GEM) research.

Methods: We performed a scoping review of research published between January 2016 and December 2021. We included original emergency department-based research focused on falls, delirium/dementia, medication safety, and elder abuse. We excluded manuscripts that did not include (1) original research data pertaining to the four core topics, (2) older adults, (3) subjects from the United States, and (4) for which full text publication could not be obtained. The primary objective was to qualitatively describe reporting about older adults' social identities in GEM research. Secondary objectives …

Age Modulates The Predictive Value Of Self-Reported Sleepiness For All-Cause Mortality Risk: Insights From A Comprehensive National Database Of Veterans, Arash Maghsoudi, Mehrnaz Azarian, Amir Sharafkhaneh, Melissa B Jones, Hoormehr Nozari, Meir Kryger, Amin Ramezani, Javad Razjouyan

Faculty, Staff and Students Publications

Study objectives: Excessive daytime sleepiness is prevalent and overwhelmingly stems from disturbed sleep. We hypothesized that age modulates the association between excessive daytime sleepiness and increased all-cause mortality.

Methods: We utilized the Veterans' Health Administration data from 1999-2022. We enrolled participants with sleep related International Classification of Diseases 9/10 codes or sleep services. A natural language processing pipeline was developed and validated to extract the Epworth Sleepiness Scale (ESS) as a self-reported tool to measure excessive daytime sleepiness from physician progress notes. The natural language processing's accuracy was assessed through manual annotation of 470 notes. Participants were categorized into normal-ESS …

Universal Clinical Decision Support Tool For Thromboprophylaxis In Hospitalized Covid-19 Patients: Post Hoc Analysis Of The Improve-Dd Cluster Randomized Trial, Mark Goldin, Nikolaos Tsaftaridis, Ioannis Koulas, Jeffrey Solomon, Michael Qiu, Tungming Leung, Kolton Smith, Kanta Ochani, Thomas Mcginn, Alex C Spyropoulos

Faculty, Staff and Students Publications

Background: Inpatient and extended postdischarge thromboprophylaxis of COVID-19 patients remains suboptimal despite antithrombotic guidelines.

Objectives: To determine whether a novel electronic health record-agnostic clinical decision support (CDS) tool incorporating the International Medical Prevention Registry on Venous Thromboembolism plus D-dimer (IMPROVE-DD) venous thromboembolism (VTE) scores increases appropriate inpatient and extended postdischarge thromboprophylaxis and improves outcomes in COVID-19 inpatients.

Methods: This post hoc analysis of the IMPROVE-DD cluster randomized trial evaluated thromboprophylaxis CDS among COVID-19 inpatients at 4 New York hospitals between December 21, 2020, and January 21, 2022. Hospitals were randomized 1:1 to CDS (intervention, n = 2) vs no CDS …

Blocking Il-17a Signaling Decreases Lung Inflammation And Improves Alveolarization In Experimental Bronchopulmonary Dysplasia, Meagan Goates, Amrit Shrestha, Shyam Thapa, Matthew Bettini, Roberto Barrios, Binoy Shivanna

Faculty, Staff and Students Publications

Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease of preterm infants that is associated with life-long morbidities. Inflammatory insults contribute to BPD pathogenesis. Although the proinflammatory cytokine, IL-17a, plays a role in various neonatal inflammatory disorders, its role in BPD pathogenesis is unclear. To test the hypothesis that blocking IL-17a signaling decreases lipopolysaccharide (LPS)-mediated experimental BPD in neonatal mice, wild-type mice were injected intraperitoneally with phosphate-buffered saline or LPS during the saccular lung developmental phase. Pulmonary IL-17a expression was determined by enzyme-linked immunosorbent assay and by flow cytometry. LPS-injected mice had higher pulmonary IL-17a protein levels and IL-17a

Time To Treatment Versus Health Care Utilization In Compression Fractures Treated With Vertebral Augmentation: The Vertebral Augmentation Care Pathways Case Series, Emanuel Narcis Husu, Edward S Yoon, Neal H Shonnard, Justine Norwitz, Nell Shonnard, Douglas P Beall

Faculty, Staff and Students Publications

Background: There is little data on the economics of the timing of percutaneous vertebral augmentation (PVA) for vertebral compression fractures (VCFs).

Case report: The purpose of this case series is to compare health care utilization (HCU) costs vs the time to treatment (TTT) of the VCF. The BenchMarket Medical VCF Registry (now Talosix) was utilized. Patients receiving acute or intermediate treatment had the greatest pain and function improvement and the lowest HCU costs. Patients receiving delayed treatment had the least improvement and the highest (3-fold) HCU costs. Any TTT delay resulted in higher HCU costs and diminished benefits. The most …

Challenges And Rewards Of In Vivo Synaptic Density Imaging, And Its Application To The Study Of Depression, Ruth H Asch, Chadi G Abdallah, Richard E Carson, Irina Esterlis

Faculty, Staff and Students Publications

The development of novel radiotracers for Positron Emission Tomography (PET) imaging agents targeting the synaptic vesicle glycoprotein 2 A (SV2A), an integral glycoprotein present in the membrane of all synaptic vesicles throughout the central nervous system, provides a method for the in vivo quantification of synaptic density. This is of particular interest in neuropsychiatric disorders given that synaptic alterations appear to underlie disease progression and symptom severity. In this review, we briefly describe the development of these SV2A tracers and the evaluation of quantification methods. Next, we discuss application of SV2A PET imaging to the study of depression, including a …

Eyelid Reconstruction, Srinithya R Gillipelli, Diego M Quirarte, Winston R Owens, Matthew J Parham, Austin Y Jiang, Katherine J Williams, Amy S Xue

Faculty, Staff and Students Publications

Reconstruction of the eyelid is a complex process that requires an understanding of eyelid anatomy and various reconstructive techniques to restore function and appearance. The eyelids, essential for globe protection, moisture retention, and expression, contain the lacrimal system and intricate musculature that make reconstruction challenging. Tumor excision commonly results in defects in the eyelid that require careful reconstructive planning, with consideration for defect dimensions, location, and involvement of surrounding tissue. This review presents reconstructive techniques commonly used in the management of eyelid defects.

To Manipulate Or Not? Management Of Pediatric Knee Arthrofibrosis Following Operative Fixation Of Tibial Spine Fractures, Matthew J Folkman, Neeraj M Patel, Alexandra C Stevens, Aristides I Cruz, R Jay Lee, Indranil Kushare, Theodore J Ganley, Henry Ellis, Peter Fabricant, Daniel Green, Benjamin Johnson, Scott Mckay, Gregory Schmale, Yi-Meng Yen, R Justin Mistovich

Faculty, Staff and Students Publications

Background: Knee arthrofibrosis is a common complication after surgical fixation of tibial spine fractures. However, there is no standardized treatment modality for resultant arthrofibrosis, with some surgeons electing for nonoperative management, while others prefer manipulation under anesthesia with a possible arthroscopic lysis of adhesions, if indicated. To better understand indications and outcomes from these treatment modalities for arthrofibrosis, we examined patients treated by both approaches.

Methods: We performed a multicenter retrospective case series of patients with arthrofibrosis after tibial spine fracture surgery. Arthrofibrosis was defined as loss of knee extension ≥10.0° and/or knee flexion ≥25.0° compared to the contralateral, uninjured …

Synaptic Plasticity In The Injured Brain Depends On The Temporal Pattern Of Stimulation, Quentin S Fischer, Djanenkhodja Kalikulov, Gonzalo Viana Di Prisco, Carrie A Williams, Philip R Baldwin, Michael J Friedlander

Faculty, Staff and Students Publications

Neurostimulation protocols are increasingly used as therapeutic interventions, including for brain injury. In addition to the direct activation of neurons, these stimulation protocols are also likely to have downstream effects on those neurons' synaptic outputs. It is well known that alterations in the strength of synaptic connections (long-term potentiation, LTP; long-term depression, LTD) are sensitive to the frequency of stimulation used for induction; however, little is known about the contribution of the temporal pattern of stimulation to the downstream synaptic plasticity that may be induced by neurostimulation in the injured brain. We explored interactions of the temporal pattern and frequency …

Genetic Risk Factors In Isolated Dystonia Escape Genome-Wide Association Studies, Björn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, Tobias Reinberger, Lisa-Marie Nuxoll, Gamze Kilic-Berkmen, Joel S Perlmutter, Sebastian Loens, Carlos Cruchaga, Andre Franke, Valerija Dobricic, Frauke Hinrichs, Anne Grözinger, Eckart Altenmüller, Steven Bellows, Sylvia Boesch, Susan B Bressman, Kevin R Duque, Alberto J Espay, Andreas Ferbert, Jeanne S Feuerstein, Samuel Frank, Thomas Gasser, Bernhard Haslinger, Robert Jech, Frank Kaiser, Christoph Kamm, Katja Kollewe, Andrea A Kühn, Mark S Ledoux, Ebba Lohmann, Abhimanyu Mahajan, Alexander Münchau, Trisha Multhaupt-Buell, Alexander Pantelyat, Sarah E Pirio Richardson, Deborah Raymond, Stephen G Reich, Rachel Saunders Pullman, Barbara Schormair, Nutan Sharma, Azadeh Hamzehei Sichani, Kristina Simonyan, Jens Volkmann, Aparna Wagle Shukla, Juliane Winkelmann, Laura J Wright, Michael Zech, Kirsten E Zeuner, Simone Zittel, Meike Kasten, Yan V Sun, Tobias Bäumer, Norbert Brüggemann, Laurie J Ozelius, Hyder A Jinnah, Christine Klein, Inke R König

Faculty, Staff and Students Publications

Background: Despite considerable heritability, previous smaller genome-wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia.

Objective: The objective of this study was to perform a large-scale GWAS in a well-characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia.

Methods: Array-based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation.

Results: This GWAS identified no common genome-wide significant …

Comparative Effectiveness Of Different Corticosteroid Regimens In Severe Alcohol-Associated Hepatitis, Alvi Husni Islam, Luis Antonio Díaz, Francisco Idalsoaga, Leonardo Guizzetti, Rokhsana Mortuza, Winston Dunn, Ashwani K Singal, Douglas Simonetto, Carolina Ramirez-Cadiz, Wei Zhang, Steve Qian, Joaquín Cabezas, Shiv K Sarin, Rakhi Maiwall, Prasun K Jalal, Fatima Higuera-De La Tijera, Lubomir Skladany, Natalia Bystrianska, Diego Rincon, Kristina R Chacko, Meritxell Ventura Cots, Guadalupe Garcia-Tsao, Juan G Abraldes, Patrick S Kamath, Marco Arrese, Vijay Shah, Ramon Bataller, Juan Pablo Arab

Faculty, Staff and Students Publications

No abstract provided.

A Phase 1 Study Of Abi-009 (Nab-Sirolimus) In Combination With Temozolomide And Irinotecan In Pediatric Patients With Recurrent Or Refractory Solid Tumors, Including Cns Tumors-A Children's Oncology Group Pediatric Early Phase Clinical Trial Network Study Advl1514, Stuart L Cramer, Alyssa Terry Reddy, Charles Gene Minard, Stephan Voss, Elizabeth Fox, Xiaowei Liu, Kristina Denic, Joel M Reid, Brenda J Weigel

Faculty, Staff and Students Publications

BACKGROUND: Nab-sirolimus (ABI-009, nab-rapamycin; Aadi Bioscience Inc. [Aadi]) is a human albumin-bound form of sirolimus nanoparticles, a potent mTOR inhibitor. This phase I trial was conducted to define dose-limiting toxicities (DLT), maximum tolerated or recommended phase II dose (MTD/RP2D), and pharmacokinetics of Nab-sirolimus in combination with temozolomide and irinotecan.

METHODS: Using a rolling 6 design, Nab-sirolimus was administered intravenously (IV) on days (D) 1 and 8 of cycle (C) 1. In subsequent cycles, Nab-sirolimus was administered D1 and D8 in combination with temozolomide (125 mg/m

RESULTS: Thirty-three patients were enrolled, 32 were eligible. Dose determination included 17 evaluable patients, median …

Serum Levels Of Total Bile Acids Are Associated With An Increased Risk Of Hcc In Patients With Cirrhosis, Hashem B El-Serag, Aaron P Thrift, Hao Duong, Jing Ning, Saira Khaderi, Amit G Singal, Sumeet K Asrani, Jorge A Marrero, Hannah Powell, Kinza Rizwan, Omar Najjar, Christopher I Amos, Michelle Luster, Abeer Al-Sarraj, Emad Salem, Michael E Scheurer, Jagpreet Chhatwal, Salma Kaochar, Fasiha Kanwal

Faculty, Staff and Students Publications

BACKGROUND: Previous studies have reported higher circulating bile acid levels in patients with HCC compared to healthy controls. However, the association between prediagnostic bile acid levels and HCC risk among patients with cirrhosis is unclear.

METHODS: We measured total BA (TBA) concentration in serum samples collected from a prospective cohort of patients with cirrhosis who were followed until the development of HCC, death, or last study date. Competing risk proportional hazard-adjusted models were used to estimate the association between tertiles of serum TBA levels and the risk of developing HCC. We quantified the incremental predictive value of serum bile acid …

Pkc-Mediated Phosphorylation Governs The Stability And Function Of Celf1 As A Driver Of Emt In Breast Epithelial Cells, Shebna Massey, Natee Kongchan, Yang Gao, Arindam Chaudhury, Emuejevoke Olokpa, Jason Karch, Anna Malovannaya, Chonghui Cheng, Xiang Zhang, Joel R Neilson

Faculty, Staff and Students Publications

Epithelial to mesenchymal transition (EMT) is believed to be a principal factor contributing to cancer metastasis. The post-transcriptional and post-translational mechanisms underlying EMT are comparatively underexplored. We previously demonstrated that the CELF1 RNA binding protein is necessary and sufficient to drive the EMT of breast epithelial cells, and that the relative protein expression of CELF1 in this context was dictated at the post-translational level. Here, we elucidate the mechanism of this regulation. Mass spectrometric analysis of CELF1 isolated from mesenchymal MCF-10A cells identified multiple sites of serine and threonine phosphorylation on the protein, correlating with the increased stability of this …

Metabolites Link Intake Of A Healthy Diet To Better Insulin And Glucose Homeostasis In The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Alexis C Wood, Danielle J Lee, Patricia A Sheridan, Elizabeth T Jensen, Gautam Ramesh, Alain G Bertoni, Stephen S Rich, Yii-Der I Chen, David M Herrington, Jerome I Rotter, Mark O Goodarzi

Faculty, Staff and Students Publications

BACKGROUND: Dietary quality has been linked to better glycemic control, but the precise molecular mechanisms giving rise to these associations are not fully understood.

OBJECTIVES: To examine the association of metabolites associated with the intake of a healthy diet with measures of insulin/glucose homeostasis.

METHODS: Using cross-sectional data from 295 United States adults, the associations between 3 diet pattern scores and metabolome-wide metabolites were estimated via linear regression models, which controlled for demographic factors and health behaviors. Subsequently, the associations between the diet-related metabolites with 6 measures of glucose/insulin homeostasis were examined in similar models. A Bonferroni correction was applied …

Telemedicine For Patients With Systemic Lupus Erythematosus In A Publicly Funded Hospital System: Retrospective Study, Sebastian Bruera, Kristen Andrews Staggers, Maria Eugenia Suarez-Almazor, Sandeep Krishna Agarwal

Faculty, Staff and Students Publications

BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that requires frequent clinic and laboratory visits. However, patients with SLE, particularly those who are underresourced, have unacceptably high rates of no-shows.

OBJECTIVE: This study aims to determine no-show rates associated with telemedicine visits during the COVID-19 pandemic in comparison to no-show rates associated with contemporaneous and historic in-person visits.

METHODS: We performed a retrospective cohort study in a publicly funded county hospital system in Houston, Texas. We identified a cohort of established patients with SLE by the International Classification of Diseases codes that were independently confirmed as SLE by …

Conservative Approach Versus Percutaneous Coronary Intervention In Patients With Spontaneous Coronary Artery Dissection From A National Population-Based Cohort Study, Chayakrit Krittanawong, Beatriz Castillo Rodriguez, Song Peng Ang, Yusuf Kamran Qadeer, Zhen Wang, Mahboob Alam, Samin Sharma, Hani Jneid

Faculty, Staff and Students Publications

BACKGROUND: Spontaneous coronary artery dissection (SCAD) is a rare and often underdiagnosed cause of acute coronary syndrome (ACS), predominantly affecting younger women without traditional cardiovascular risk factors. The management of SCAD remains a subject of debate, likely secondary to inconclusive evidence. This study aims to compare the clinical outcomes of SCAD patients treated with optimal medical therapy (OMT) versus those who underwent percutaneous coronary intervention (PCI) using a national population-based cohort.

METHODS: We conducted a retrospective analysis using the National Inpatient Sample (NIS) database from 2016 to 2020. The study included patients identified with SCAD using the ICD-10-CM (the International …

Trends And Disparities In Coronary Artery Disease And Obesity-Related Mortality In The United States From 1999-2022, Mushood Ahmed, Hira Javaid, Aimen Shafiq, Zain Ali Nadeem, Areeba Ahsan, Abdullah Nofal, Raheel Ahmed, Mahboob Alam, Marat Fudim, Gregg C Fonarow, Mamas A Mamas

Faculty, Staff and Students Publications

BACKGROUND: Almost half of the US adult population has obesity, which predisposes to atherosclerosis and can lead to poor prognosis in coronary artery disease (CAD). We aim to identify CAD and obesity-related mortality trends among adults in the United States stratified by age, sex, race and geographical location.

METHODS: The CDC-WONDER database was used to extract death certificate data for adults aged ≥ 25 years. Crude mortality rates (CMR) and age-adjusted mortality rates (AAMRs) per 100,000 persons were calculated, and temporal trends were described by calculating annual percent change (APC) and the average APC (AAPC) in the rates using Joinpoint …

National Liver Cancer Screening Trial (Tracer) Study Protocol, Amit G Singal, Neehar D Parikh, Fasiha Kanwal, Jorge A Marrero, Sneha Deodhar, Stephanie Page-Lester, Camden Lopez, Ziding Feng, Nabihah Tayob

Faculty, Staff and Students Publications

BACKGROUND: Professional guidelines recommend HCC screening in at-risk patients using semi-annual ultrasound with or without alpha-fetoprotein (AFP); however, this strategy has limited effectiveness due to low adherence and sensitivity. Increasing data support the potential role of blood-based biomarker panels, which could improve both aspects. The biomarker panel GALAD, comprised of sex, age, and 3 blood biomarkers (AFP, AFP-L3, and des-carboxy prothrombin des-carboxy prothrombin), has shown high sensitivity and specificity in biomarker phase II (case-control) and phase III (retrospective cohort) validation studies. However, prospective validation in a large phase IV biomarker clinical utility trial is necessary before its adoption in practice. …

Economic And Humanistic Burden Of Rheumatoid Arthritis: Results From The Us National Survey Data 2018-2020, Yinan Huang, Jieni Li, Sandeep Krishna Agarwal

Faculty, Staff and Students Publications

OBJECTIVE: Our objective was to estimate the economic and humanistic burden among US adults with rheumatoid arthritis (RA).

METHODS: This study analyzed results from the Medical Expenditure Panel Survey from 2018 to 2020. Adults (aged ≥18 years) self-reporting with RA or with the presence of the International Classification of Disease, 10th Revision clinical modification codes were identified. Healthcare expenditures (inpatient care, outpatient care, emergency department, office visits, prescription medications, home health, and others) were measured. The Short Form 12 Health Survey physical component summary (PCS), mental component summary (MCS), activities of daily living (ADL), and instrumental ADL (IADL) were measured. …

Understanding Loss Of Internal Rotation After Reverse Shoulder Arthroplasty: A Narrative Review Of Current Literature, Mihir Sheth, Raymond Kitziger, Anup A Shah

Faculty, Staff and Students Publications

BACKGROUND: Functional internal rotation (fIR) can be limited after reverse shoulder arthroplasty (RSA) and can result in difficulties performing activities of daily living (ADLs). The goal of this narrative review is to summarize the growing body of research on optimizing fIR after RSA that may be useful to clinical practice.

METHODS: A narrative review of recent literature on IR after RSA.

RESULTS: IR required for ADLs is a compound motion involving multiple joints and planes; for this reason, the term "functional internal rotation" can be used to differentiate this motion from glenohumeral IR. Measuring IR by vertebral level is limited …

Effectiveness Of Original Monovalent And Bivalent Covid-19 Vaccines Against Covid-19-Associated Hospitalization And Severe In-Hospital Outcomes Among Adults In The United States, September 2022-August 2023, Jennifer Decuir, Diya Surie, Yuwei Zhu, Adam S Lauring, Manjusha Gaglani, Tresa Mcneal, Shekhar Ghamande, Ithan D Peltan, Samuel M Brown, Adit A Ginde, Aimee Steinwand, Nicholas M Mohr, Kevin W Gibbs, David N Hager, Harith Ali, Anne Frosch, Michelle N Gong, Amira Mohamed, Nicholas J Johnson, Vasisht Srinivasan, Jay S Steingrub, Akram Khan, Laurence W Busse, Abhijit Duggal, Jennifer G Wilson, Nida Qadir, Steven Y Chang, Christopher Mallow, Jennie H Kwon, Matthew C Exline, Nathan I Shapiro, Cristie Columbus, Ivana A Vaughn, Mayur Ramesh, Basmah Safdar, Jarrod M Mosier, Jonathan D Casey, H Keipp Talbot, Todd W Rice, Natasha Halasa, James D Chappell, Carlos G Grijalva, Adrienne Baughman, Kelsey N Womack, Jillian P Rhoads, Sydney A Swan, Cassandra Johnson, Nathaniel Lewis, Sascha Ellington, Fatimah S Dawood, Meredith Mcmorrow, Wesley H Self, Investigating Respiratory Viruses In The Acutely Ill (Ivy) Network

Faculty, Staff and Students Publications

BACKGROUND: Assessments of COVID-19 vaccine effectiveness are needed to monitor the protection provided by updated vaccines against severe COVID-19. We evaluated the effectiveness of original monovalent and bivalent (ancestral strain and Omicron BA.4/5) COVID-19 vaccination against COVID-19-associated hospitalization and severe in-hospital outcomes.

METHODS: During September 8, 2022 to August 31, 2023, adults aged ≥ 18 years hospitalized with COVID-19-like illness were enrolled at 26 hospitals in 20 US states. Using a test-negative case-control design, we estimated vaccine effectiveness (VE) with multivariable logistic regression adjusted for age, sex, race/ethnicity, admission date, and geographic region.

RESULTS: Among 7028 patients, 2924 (41.6%) were …

Residential Proximity To Oil And Gas Developments And Childhood Cancer Survival, Thanh T Hoang, Rutu A Rathod, Omar Rosales, Maria I Castellanos, Jeremy M Schraw, Elyse Burgess, Erin C Peckham-Gregory, Abiodun O Oluyomi, Michael E Scheurer, Amy E Hughes, Philip J Lupo

Faculty, Staff and Students Publications

Background: Environmental toxicants may impact survival in children with cancer, but the literature investigating these associations remains limited. Because oil and gas developments emit several hazardous air pollutants, the authors evaluated the relationship between residential proximity to oil or gas development and survival across 21 different pediatric cancers.

Methods: The Texas Cancer Registry had 29,730 children (≤19 years old) diagnosed with a primary cancer between 1995 to 2017. Geocoded data were available for 285,266 active oil or gas wells and 109,965 horizontal wells. The authors calculated whether each case lived within 1000 m (yes/no) from each type of oil or …

Loss-Of-Function In Rbbp5 Results In A Syndromic Neurodevelopmental Disorder Associated With Microcephaly, Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Odelia Chorin, Annick Rothschild, Ortal Barel, Milena Mariani, Maria Iascone, Han Xue, Undiagnosed Diseases Network, Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y Mah-Som, Stephanie Sacharow, Farrah Rajabi, Carrie Costin, Shinya Yamamoto, Oguz Kanca, Hugo J Bellen, Jill A Rosenfeld, Christina G S Palmer, Stanley F Nelson, Michael F Wangler, Julian A Martinez-Agosto

Faculty, Staff and Students Publications

PURPOSE: Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 (HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 and has not been implicated in human disease.

METHODS: We identify 5 unrelated individuals with de novo heterozygous variants in RBBP5. Three nonsense/frameshift and 2 missense variants were identified in probands with neurodevelopmental symptoms, including global developmental delay, intellectual disability, microcephaly, and short stature. Here, we investigate the pathogenicity of the variants through protein structural analysis and transgenic Drosophila models.

RESULTS: Both missense p.(T232I) and p.(E296D) variants affect evolutionarily conserved amino acids located at the …