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Full-Text Articles in Medicine and Health Sciences

Dual-Systems And Fuzzy-Trace Theory Predictions Of Covid-19 Risk Taking In Young Adults, Sarah M. Edelson, Valerie F. Reyna, Bridget B. Hayes, David M. N. Garavito May 2024

Dual-Systems And Fuzzy-Trace Theory Predictions Of Covid-19 Risk Taking In Young Adults, Sarah M. Edelson, Valerie F. Reyna, Bridget B. Hayes, David M. N. Garavito

Articles

Risk-reduction behaviors are the first line of defense in viral epidemics. Choosing to not engage in risk-reduction behaviors produced millions of preventable deaths from COVID-19. Understanding why this happens and how to predict it is important for theory development and public policy. We took four approaches to this problem: experimentally varying theory-driven predictors (social rewards, transmission risk, and mandatory/voluntary regulations) in choice scenarios, further probing choices in specific scenarios predicted to elicit risk taking, conducting hierarchical regressions with demographic and theory-driven predictors for both scenario types, and conducting corresponding regressions for self-reported protective behaviors. The sample consisted of 247 young …


Community-Acquired Pneumonia: A Us Perspective On The Guideline Gap, Maricar Malinis, Lilian Abbo, Jose A Vazquez, Luis Ostrosky-Zeichner May 2024

Community-Acquired Pneumonia: A Us Perspective On The Guideline Gap, Maricar Malinis, Lilian Abbo, Jose A Vazquez, Luis Ostrosky-Zeichner

Faculty, Staff and Student Publications

Community-acquired pneumonia continues to be one of the most common causes of morbidity and mortality due to infectious disease. The aetiologies, clinical presentations, diagnostic modalities and therapeutic options are changing and outpacing the creation of management guidelines. This educational article summarizes a roundtable activity sponsored by an unrestricted educational grant by Paratek that included US experts discussing these changes and identifying gaps in the current guidelines.


Mdm2 Inhibitors For Cancer Therapy: The Past, Present, And Future, Wei Wang, Najah Albadari, Yi Du, Josef F Fowler, Hannah T Sang, Wa Xian, Frank Mckeon, Wei Li, Jia Zhou, Ruiwen Zhang May 2024

Mdm2 Inhibitors For Cancer Therapy: The Past, Present, And Future, Wei Wang, Najah Albadari, Yi Du, Josef F Fowler, Hannah T Sang, Wa Xian, Frank Mckeon, Wei Li, Jia Zhou, Ruiwen Zhang

Faculty, Staff and Student Publications

Since its discovery over 35 years ago, MDM2 has emerged as an attractive target for the development of cancer therapy. MDM2's activities extend from carcinogenesis to immunity to the response to various cancer therapies. Since the report of the first MDM2 inhibitor more than 30 years ago, various approaches to inhibit MDM2 have been attempted, with hundreds of small-molecule inhibitors evaluated in preclinical studies and numerous molecules tested in clinical trials. Although many MDM2 inhibitors and degraders have been evaluated in clinical trials, there is currently no Food and Drug Administration (FDA)-approved MDM2 inhibitor on the market. Nevertheless, there are …


Examining The Association Between Abstinence From Smoking And Healthcare Costs Among Patients With Cancer, George Kypriotakis, Seokhun Kim, Maher Karam-Hage, Jason D Robinson, Jennifer A Minnix, Janice A Blalock, Yong Cui, Diane Beneventi, Bumyang Kim, I-Wen Pan, Ya-Chen Tina Shih, Paul M Cinciripini May 2024

Examining The Association Between Abstinence From Smoking And Healthcare Costs Among Patients With Cancer, George Kypriotakis, Seokhun Kim, Maher Karam-Hage, Jason D Robinson, Jennifer A Minnix, Janice A Blalock, Yong Cui, Diane Beneventi, Bumyang Kim, I-Wen Pan, Ya-Chen Tina Shih, Paul M Cinciripini

Faculty, Staff and Student Publications

Continuous tobacco use in cancer patients is linked to substantial healthcare costs due to increased risks and complications, whereas quitting smoking leads to improved treatment outcomes and cost reductions. Addressing the need for empirical evidence on the economic impact of smoking cessation, this study examined the association between smoking cessation and healthcare cost utilization among a sample of 930 cancer patients treated at The University of Texas MD Anderson Cancer Center’s Tobacco Research and Treatment Program (TRTP). Applying conditional quantile regression and propensity scores to address confounding, our findings revealed that abstinence achieved through the TRTP significantly reduced the median …


Examining Patient Preferences And Perceptions Of Provider Communication Strategies For Variant Reclassification In Hereditary Cancer Genetic Testing, Mitchell Mcelfresh, Katie Hutto, Gwen Reiser, Bronson Riley, Charlie King May 2024

Examining Patient Preferences And Perceptions Of Provider Communication Strategies For Variant Reclassification In Hereditary Cancer Genetic Testing, Mitchell Mcelfresh, Katie Hutto, Gwen Reiser, Bronson Riley, Charlie King

Capstones: Genetic Counseling

Genetic testing plays a role in oncology care by providing insight into patient’s cancer risk and guiding medical management. Variants in genes are classified by their potential to cause disease according to the five-tier system recommended by the American College of Medical Genetics (ACMG). Reclassification of variants is fluid and can lead to both changes in medical management and challenging discussions. Previous research has described methods genetic counselors use for recontacting patients about reclassification, but not whether these methods align with patient preferences. This study employed a mixed methods survey for patients in Nebraska (recruited via flyer and mail) and …


Tsyn-Seq: A T-Cell Synapse-Based Antigen Identification Platform, Yimei Jin, Takahiko Miyama, Alexandria Brown, Tomo Hayase, Xingzhi Song, Anand K Singh, Licai Huang, Ivonne I Flores, Lauren K Mcdaniel, Israel Glover, Taylor M Halsey, Rishika Prasad, Valerie Chapa, Saira Ahmed, Jianhua Zhang, Kunal Rai, Christine B Peterson, Gregory Lizee, Jennifer Karmouch, Eiko Hayase, Jeffrey J Molldrem, Chia-Chi Chang, Wen-Bin Tsai, Robert R Jenq May 2024

Tsyn-Seq: A T-Cell Synapse-Based Antigen Identification Platform, Yimei Jin, Takahiko Miyama, Alexandria Brown, Tomo Hayase, Xingzhi Song, Anand K Singh, Licai Huang, Ivonne I Flores, Lauren K Mcdaniel, Israel Glover, Taylor M Halsey, Rishika Prasad, Valerie Chapa, Saira Ahmed, Jianhua Zhang, Kunal Rai, Christine B Peterson, Gregory Lizee, Jennifer Karmouch, Eiko Hayase, Jeffrey J Molldrem, Chia-Chi Chang, Wen-Bin Tsai, Robert R Jenq

Faculty, Staff and Student Publications

Tools for genome-wide rapid identification of peptide-major histocompatibility complex targets of T-cell receptors (TCR) are not yet universally available. We present a new antigen screening method, the T-synapse (Tsyn) reporter system, which includes antigen-presenting cells (APC) with a Fas-inducible NF-κB reporter and T cells with a nuclear factor of activated T cells (NFAT) reporter. To functionally screen for target antigens from a cDNA library, productively interacting T cell-APC aggregates were detected by dual-reporter activity and enriched by flow sorting followed by antigen identification quantified by deep sequencing (Tsyn-seq). When applied to a previously characterized TCR specific for the E7 antigen …


Fam86a Methylation Of Eef2 Links Mrna Translation Elongation To Tumorigenesis, Joel William Francis, Simone Hausmann, Sabeen Ikram, Kunlun Yin, Robert Mealey-Farr, Natasha Mahealani Flores, Annie Truc Trinh, Tourkian Chasan, Julia Thompson, Pawel Karol Mazur, Or Gozani May 2024

Fam86a Methylation Of Eef2 Links Mrna Translation Elongation To Tumorigenesis, Joel William Francis, Simone Hausmann, Sabeen Ikram, Kunlun Yin, Robert Mealey-Farr, Natasha Mahealani Flores, Annie Truc Trinh, Tourkian Chasan, Julia Thompson, Pawel Karol Mazur, Or Gozani

Faculty, Staff and Student Publications

eEF2 post-translational modifications (PTMs) can profoundly affect mRNA translation dynamics. However, the physiologic function of eEF2K525 trimethylation (eEF2K525me3), a PTM catalyzed by the enzyme FAM86A, is unknown. Here, we find that FAM86A methylation of eEF2 regulates nascent elongation to promote protein synthesis and lung adenocarcinoma (LUAD) pathogenesis. The principal physiologic substrate of FAM86A is eEF2, with K525me3 modeled to facilitate productive eEF2-ribosome engagement during translocation. FAM86A depletion in LUAD cells causes 80S monosome accumulation and mRNA translation inhibition. FAM86A is overexpressed in LUAD and eEF2K525me3 levels increase through advancing LUAD disease stages. FAM86A knockdown attenuates LUAD cell proliferation and suppression …


Using A Novel Approach To Explore Women's Caesarean Birth Experience, Linda J. Deys, Valerie Wilson, Sara Bayes, Shahla Meedya May 2024

Using A Novel Approach To Explore Women's Caesarean Birth Experience, Linda J. Deys, Valerie Wilson, Sara Bayes, Shahla Meedya

Research outputs 2022 to 2026

How a woman experiences birth is influenced by how she is treated, and who has power and control in the birthing environment. Focus on 'delivery' of an infant disregards the transformative event for the woman, with poorer physical and psychological outcomes. New evidence is needed to understand how to prevent trauma and improve maternal wellbeing.This paper presents a feminist methodology to view the lived experience of caesarean birth. Feminist birthing theories integrated with a phenomenological perspective provide insight for those working in maternity care and create a novel framework for researchers considering the position of women in a medicalised healthcare …


De Novo Genome Assembly For The Coppery Titi Monkey (Plecturocebus Cupreus): An Emerging Nonhuman Primate Model For Behavioral Research, Susanne P Pfeifer, Alexander Baxter, Logan E Savidge, Fritz J Sedlazeck, Karen L Bales May 2024

De Novo Genome Assembly For The Coppery Titi Monkey (Plecturocebus Cupreus): An Emerging Nonhuman Primate Model For Behavioral Research, Susanne P Pfeifer, Alexander Baxter, Logan E Savidge, Fritz J Sedlazeck, Karen L Bales

Faculty, Staff and Students Publications

The coppery titi monkey (Plecturocebus cupreus) is an emerging nonhuman primate model system for behavioral and neurobiological research. At the same time, the almost entire absence of genomic resources for the species has hampered insights into the genetic underpinnings of the phenotypic traits of interest. To facilitate future genotype-to-phenotype studies, we here present a high-quality, fully annotated de novo genome assembly for the species with chromosome-length scaffolds spanning the autosomes and chromosome X (scaffold N50 = 130.8 Mb), constructed using data obtained from several orthologous short- and long-read sequencing and scaffolding techniques. With a base-level accuracy of ∼99.99% in chromosome-length …


Comprehensive Atrial Fibrillation Burden And Symptom Reduction Post-Ablation: Insights From Decaaf Ii, Charbel Noujaim, Ala Assaf, Chanho Lim, Han Feng, Hadi Younes, Mario Mekhael, Nour Chouman, Ghaith Shamaileh, Abdel Hadi El Hajjar, Tarek Ayoub, Nino Isakadze, Mihail G Chelu, Nassir Marrouche, Eoin Donnellan May 2024

Comprehensive Atrial Fibrillation Burden And Symptom Reduction Post-Ablation: Insights From Decaaf Ii, Charbel Noujaim, Ala Assaf, Chanho Lim, Han Feng, Hadi Younes, Mario Mekhael, Nour Chouman, Ghaith Shamaileh, Abdel Hadi El Hajjar, Tarek Ayoub, Nino Isakadze, Mihail G Chelu, Nassir Marrouche, Eoin Donnellan

Faculty, Staff and Students Publications

Aims: Traditional atrial fibrillation (AF) recurrence after catheter ablation is reported as a binary outcome. However, a paradigm shift towards a more granular definition, considering arrhythmic or symptomatic burden, is emerging. We hypothesize that ablation reduces AF burden independently of conventional recurrence status in patients with persistent AF, correlating with symptom burden reduction.

Methods and results: Ninety-eight patients with persistent AF from the DECAAF II trial with pre-ablation follow-up were included. Patients recorded daily single-lead electrocardiogram (ECG) strips, defining AF burden as the proportion of AF days among total submitted ECG days. The primary outcome was atrial arrhythmia recurrence. The …


Integrated Transcriptomics And Histopathology Approach Identifies A Subset Of Rejected Donor Livers With Potential Suitability For Transplantation, Ankita Srivastava, Alexandra Manchel, John Waters, Manju Ambelil, Benjamin K. Barnhart, Jan B. Hoek, Ashesh P. Shah, Rajanikanth Vadigepalli May 2024

Integrated Transcriptomics And Histopathology Approach Identifies A Subset Of Rejected Donor Livers With Potential Suitability For Transplantation, Ankita Srivastava, Alexandra Manchel, John Waters, Manju Ambelil, Benjamin K. Barnhart, Jan B. Hoek, Ashesh P. Shah, Rajanikanth Vadigepalli

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND: Liver transplantation is an effective treatment for liver failure. There is a large unmet demand, even as not all donated livers are transplanted. The clinical selection criteria for donor livers based on histopathological evaluation and liver function tests are variable. We integrated transcriptomics and histopathology to characterize donor liver biopsies obtained at the time of organ recovery. We performed RNA sequencing as well as manual and artificial intelligence-based histopathology (10 accepted and 21 rejected for transplantation).

RESULTS: We identified two transcriptomically distinct rejected subsets (termed rejected-1 and rejected-2), where rejected-2 exhibited a near-complete transcriptomic overlap with the accepted livers, …


The Long Non-Coding Rna Gene C027288.3 Plays A Role In Human Endometrial Stromal Fibroblast Decidualization, Rupak Thapa, Kevin Marmo, Liang Ma, Donald S Torry, Brent M Bany May 2024

The Long Non-Coding Rna Gene C027288.3 Plays A Role In Human Endometrial Stromal Fibroblast Decidualization, Rupak Thapa, Kevin Marmo, Liang Ma, Donald S Torry, Brent M Bany

2020-Current year OA Pubs

During the secretory phase of the menstrual cycle, endometrial fibroblast cells begin to change into large epithelial-like cells called decidual cells in a process called decidualization. This differentiation continues more broadly in the endometrium and forms the decidual tissue during early pregnancy. The cells undergoing decidualization as well as the resulting decidual cells, support successful implantation and placentation during early pregnancy. This study was carried out to identify new potentially important long non-coding RNA (lncRNA) genes that may play a role in human endometrial stromal fibroblast cells (hESF) undergoing decidualization in vitro, and several were found. The expression of nine …


Cytotoxic Sigma-2 Ligands Trigger Cancer Cell Death Via Cholesterol-Induced-Er-Stress, Rony Takchi, Bethany C Prudner, Qingqing Gong, Takaomi Hagi, Kenneth F Newcomer, Linda X Jin, Suwanna Vangveravong, Brian A Van Tine, William G Hawkins, Dirk Spitzer May 2024

Cytotoxic Sigma-2 Ligands Trigger Cancer Cell Death Via Cholesterol-Induced-Er-Stress, Rony Takchi, Bethany C Prudner, Qingqing Gong, Takaomi Hagi, Kenneth F Newcomer, Linda X Jin, Suwanna Vangveravong, Brian A Van Tine, William G Hawkins, Dirk Spitzer

2020-Current year OA Pubs

Sigma-2-ligands (S2L) are characterized by high binding affinities to their cognate sigma-2 receptor, overexpressed in rapidly proliferating tumor cells. As such, S2L were developed as imaging probes (ISO1) or as cancer therapeutics, alone (SV119 [C6], SW43 [C10]) and as delivery vehicles for cytotoxic drug cargoes (C6-Erastin, C10-SMAC). However, the exact mechanism of S2L-induced cytotoxicity remains to be fully elucidated. A series of high-affinity S2L were evaluated regarding their cytotoxicity profiles across cancer cell lines. While C6 and C10 displayed distinct cytotoxicities, C0 and ISO1 were essentially non-toxic. Confocal microscopy and lipidomics analysis in cellular and mouse models revealed that C10 …


A Genetic Association Study Of Circulating Coagulation Factor Viii And Von Willebrand Factor Levels, Paul S De Vries, Paula Reventun, Michael R Brown, Adam S Heath, Jennifer E Huffman, Ngoc-Quynh Le, Allison Bebo, Jennifer A Brody, Gerard Temprano-Sagrera, Laura M Raffield, Ayse Bilge Ozel, Florian Thibord, Deepti Jain, Joshua P Lewis, Benjamin A T Rodriguez, Nathan Pankratz, Kent D Taylor, Ozren Polasek, Ming-Huei Chen, Lisa R Yanek, German D Carrasquilla, Riccardo E Marioni, Marcus E Kleber, David-Alexandre Trégouët, Jie Yao, Ruifang Li-Gao, Peter K Joshi, Stella Trompet, Angel Martinez-Perez, Mohsen Ghanbari, Tom E Howard, Alex P Reiner, Marios Arvanitis, Kathleen A Ryan, Traci M Bartz, Igor Rudan, Nauder Faraday, Allan Linneberg, Lynette Ekunwe, Gail Davies, Graciela E Delgado, Pierre Suchon, Xiuqing Guo, Frits R Rosendaal, Lucija Klaric, Raymond Noordam, Frank Van Rooij, Joanne E Curran, Marsha M Wheeler, William O Osburn, Jeffrey R O'Connell, Eric Boerwinkle, Andrew Beswick, Bruce M Psaty, Ivana Kolcic, Juan Carlos Souto, Lewis C Becker, Torben Hansen, Margaret F Doyle, Sarah E Harris, Angela P Moissl, Jean-François Deleuze, Stephen S Rich, Astrid Van Hylckama Vlieg, Harry Campbell, David J Stott, Jose Manuel Soria, Moniek P M De Maat, Laura Almasy, Lawrence C Brody, Paul L Auer, Braxton D Mitchell, Yoav Ben-Shlomo, Myriam Fornage, Caroline Hayward, Rasika A Mathias, Tuomas O Kilpeläinen, Leslie A Lange, Simon R Cox, Winfried März, Pierre-Emmanuel Morange, Jerome I Rotter, Dennis O Mook-Kanamori, James F Wilson, Pim Van Der Harst, J Wouter Jukema, M Arfan Ikram, John Blangero, Charles Kooperberg, Karl C Desch, Andrew D Johnson, Maria Sabater-Lleal, Charles J Lowenstein, Nicholas L Smith, Alanna C Morrison May 2024

A Genetic Association Study Of Circulating Coagulation Factor Viii And Von Willebrand Factor Levels, Paul S De Vries, Paula Reventun, Michael R Brown, Adam S Heath, Jennifer E Huffman, Ngoc-Quynh Le, Allison Bebo, Jennifer A Brody, Gerard Temprano-Sagrera, Laura M Raffield, Ayse Bilge Ozel, Florian Thibord, Deepti Jain, Joshua P Lewis, Benjamin A T Rodriguez, Nathan Pankratz, Kent D Taylor, Ozren Polasek, Ming-Huei Chen, Lisa R Yanek, German D Carrasquilla, Riccardo E Marioni, Marcus E Kleber, David-Alexandre Trégouët, Jie Yao, Ruifang Li-Gao, Peter K Joshi, Stella Trompet, Angel Martinez-Perez, Mohsen Ghanbari, Tom E Howard, Alex P Reiner, Marios Arvanitis, Kathleen A Ryan, Traci M Bartz, Igor Rudan, Nauder Faraday, Allan Linneberg, Lynette Ekunwe, Gail Davies, Graciela E Delgado, Pierre Suchon, Xiuqing Guo, Frits R Rosendaal, Lucija Klaric, Raymond Noordam, Frank Van Rooij, Joanne E Curran, Marsha M Wheeler, William O Osburn, Jeffrey R O'Connell, Eric Boerwinkle, Andrew Beswick, Bruce M Psaty, Ivana Kolcic, Juan Carlos Souto, Lewis C Becker, Torben Hansen, Margaret F Doyle, Sarah E Harris, Angela P Moissl, Jean-François Deleuze, Stephen S Rich, Astrid Van Hylckama Vlieg, Harry Campbell, David J Stott, Jose Manuel Soria, Moniek P M De Maat, Laura Almasy, Lawrence C Brody, Paul L Auer, Braxton D Mitchell, Yoav Ben-Shlomo, Myriam Fornage, Caroline Hayward, Rasika A Mathias, Tuomas O Kilpeläinen, Leslie A Lange, Simon R Cox, Winfried März, Pierre-Emmanuel Morange, Jerome I Rotter, Dennis O Mook-Kanamori, James F Wilson, Pim Van Der Harst, J Wouter Jukema, M Arfan Ikram, John Blangero, Charles Kooperberg, Karl C Desch, Andrew D Johnson, Maria Sabater-Lleal, Charles J Lowenstein, Nicholas L Smith, Alanna C Morrison

Faculty, Staff and Student Publications

Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program along with TOPMed-based imputation of genotypes in additional samples to identify genetic associations with circulating FVIII and VWF levels in a single-variant meta-analysis, including up to 45 289 participants. Gene-based aggregate tests were implemented in TOPMed. We identified 3 candidate causal genes and tested their functional effect on FVIII release from human liver endothelial cells (HLECs) and VWF release from human umbilical vein endothelial cells. Mendelian randomization was …


Response Of Treatment-Naive Brain Metastases To Stereotactic Radiosurgery, Chibawanye I Ene, Christina Abi Faraj, Thomas H Beckham, Jeffrey S Weinberg, Clark R Andersen, Ali S Haider, Ganesh Rao, Sherise D Ferguson, Christopher A Alvarez-Brenkenridge, Betty Y S Kim, Amy B Heimberger, Ian E Mccutcheon, Sujit S Prabhu, Chenyang Michael Wang, Amol J Ghia, Susan L Mcgovern, Caroline Chung, Mary Frances Mcaleer, Martin C Tom, Subha Perni, Todd A Swanson, Debra N Yeboa, Tina M Briere, Jason T Huse, Gregory N Fuller, Frederick F Lang, Jing Li, Dima Suki, Raymond E Sawaya May 2024

Response Of Treatment-Naive Brain Metastases To Stereotactic Radiosurgery, Chibawanye I Ene, Christina Abi Faraj, Thomas H Beckham, Jeffrey S Weinberg, Clark R Andersen, Ali S Haider, Ganesh Rao, Sherise D Ferguson, Christopher A Alvarez-Brenkenridge, Betty Y S Kim, Amy B Heimberger, Ian E Mccutcheon, Sujit S Prabhu, Chenyang Michael Wang, Amol J Ghia, Susan L Mcgovern, Caroline Chung, Mary Frances Mcaleer, Martin C Tom, Subha Perni, Todd A Swanson, Debra N Yeboa, Tina M Briere, Jason T Huse, Gregory N Fuller, Frederick F Lang, Jing Li, Dima Suki, Raymond E Sawaya

Faculty, Staff and Student Publications

With improvements in survival for patients with metastatic cancer, long-term local control of brain metastases has become an increasingly important clinical priority. While consensus guidelines recommend surgery followed by stereotactic radiosurgery (SRS) for lesions >3 cm, smaller lesions (≤3 cm) treated with SRS alone elicit variable responses. To determine factors influencing this variable response to SRS, we analyzed outcomes of brain metastases ≤3 cm diameter in patients with no prior systemic therapy treated with frame-based single-fraction SRS. Following SRS, 259 out of 1733 (15%) treated lesions demonstrated MRI findings concerning for local treatment failure (LTF), of which 202 /1733 (12%) …


The Clinical Utility And Diagnostic Implementation Of Human Subject Cell Transdifferentiation Followed By Rna Sequencing, Shenglan Li, Sen Zhao, Jefferson C Sinson, Aleksandar Bajic, Jill A Rosenfeld, Matthew B Neeley, Mezthly Pena, Kim C Worley, Lindsay C Burrage, Monika Weisz-Hubshman, Shamika Ketkar, William J Craigen, Gary D Clark, Seema Lalani, Carlos A Bacino, Keren Machol, Hsiao-Tuan Chao, Lorraine Potocki, Lisa Emrick, Jennifer Sheppard, My T T Nguyen, Anahita Khoramnia, Paula Patricia Hernandez, Sandesh Cs Nagamani, Zhandong Liu, Christine M Eng, Brendan Lee, Pengfei Liu May 2024

The Clinical Utility And Diagnostic Implementation Of Human Subject Cell Transdifferentiation Followed By Rna Sequencing, Shenglan Li, Sen Zhao, Jefferson C Sinson, Aleksandar Bajic, Jill A Rosenfeld, Matthew B Neeley, Mezthly Pena, Kim C Worley, Lindsay C Burrage, Monika Weisz-Hubshman, Shamika Ketkar, William J Craigen, Gary D Clark, Seema Lalani, Carlos A Bacino, Keren Machol, Hsiao-Tuan Chao, Lorraine Potocki, Lisa Emrick, Jennifer Sheppard, My T T Nguyen, Anahita Khoramnia, Paula Patricia Hernandez, Sandesh Cs Nagamani, Zhandong Liu, Christine M Eng, Brendan Lee, Pengfei Liu

Faculty, Staff and Students Publications

RNA sequencing (RNA-seq) has recently been used in translational research settings to facilitate diagnoses of Mendelian disorders. A significant obstacle for clinical laboratories in adopting RNA-seq is the low or absent expression of a significant number of disease-associated genes/transcripts in clinically accessible samples. As this is especially problematic in neurological diseases, we developed a clinical diagnostic approach that enhanced the detection and evaluation of tissue-specific genes/transcripts through fibroblast-to-neuron cell transdifferentiation. The approach is designed specifically to suit clinical implementation, emphasizing simplicity, cost effectiveness, turnaround time, and reproducibility. For clinical validation, we generated induced neurons (iNeurons) from 71 individuals with primary …


The Efficacy Of Telemental Health Interventions For Mood Disorders Pre-Covid-19: A Narrative Review, Alyssa M. Edwards, Jordan C. Petitt, Martha Sajatovic, Sanjana Kumar, Jennifer B. Levin May 2024

The Efficacy Of Telemental Health Interventions For Mood Disorders Pre-Covid-19: A Narrative Review, Alyssa M. Edwards, Jordan C. Petitt, Martha Sajatovic, Sanjana Kumar, Jennifer B. Levin

Faculty Scholarship

The onset of the COVID-19 pandemic saw a significant surge in the utilization of telemental health (TMH) services. This narrative review aimed to investigate the efficacy of TMH for serious mood disorders prior to the COVID-19 pandemic. A search across databases was conducted for randomized controlled trials focusing on TMH interventions for mood disorders, encompassing major depressive disorder (MDD) and bipolar disorder (BD). Study and patient characteristics, interventions, and outcomes were extracted. From a pool of 2611 papers initially identified, 17 met the inclusion criteria: 14 focused on MDD, while 4 addressed BD. Among these, 6 papers directly compared TMH …


The Spectrum Of Pneumonia Among Intubated Neonates In The Neonatal Intensive Care Unit, Dayle J. Bondarev, Rita M. Ryan, Devashis Mukherjee May 2024

The Spectrum Of Pneumonia Among Intubated Neonates In The Neonatal Intensive Care Unit, Dayle J. Bondarev, Rita M. Ryan, Devashis Mukherjee

Faculty Scholarship

We review the pathophysiology, epidemiology, diagnosis, treatment, and prevention of ventilator-associated pneumonia (VAP) in neonates. VAP has been studied primarily in adult ICU patients, although there has been more focus on pediatric and neonatal VAP (neo-VAP) in the last decade. The definition as well as diagnosis of VAP in neonates remains a challenge to date. The neonatal intensivist needs to be familiar with the current diagnostic tools and prevention strategies available to treat and reduce VAP to reduce neonatal morbidity and the emergence of antibiotic resistance. This review also highlights preventive strategies and old and emerging treatments available.


A Rare Case Of High Grade Lymphoma Presenting As Large Bowel Obstruction With Testicular Mass, Gianna Martini, Gino Pezzone, Tiffany Pompa, Vijaykumar Gandhi May 2024

A Rare Case Of High Grade Lymphoma Presenting As Large Bowel Obstruction With Testicular Mass, Gianna Martini, Gino Pezzone, Tiffany Pompa, Vijaykumar Gandhi

Research Day

Large bowel obstructions can occur in many settings, including a volvulus, adhesive disease, strictures, hernias, and malignancy. In the setting of malignancy, a bowel resection is the most common initial treatment option, and histologic examination of the resected specimen can identify the underlying source of the obstructing mass. Most commonly, large bowel obstruction is due to colorectal cancer, and if metastasis is present, it will most commonly involve the liver, followed by the lungs, bone, and brain. We present a case of a 36-year-old male who presents with a large bowel obstruction and a testicular mass noted on admission. The …


The Use Of A Behavior And Symptoms Rating Scale As A Predictor Of Suicidal Ideations And Attempts In Adolescent Psychiatric Inpatients, Jessica L. Lamont-George, Susan Panichelli Mindel, Robert A. Ditomasso, Jacquelyn D'Amico May 2024

The Use Of A Behavior And Symptoms Rating Scale As A Predictor Of Suicidal Ideations And Attempts In Adolescent Psychiatric Inpatients, Jessica L. Lamont-George, Susan Panichelli Mindel, Robert A. Ditomasso, Jacquelyn D'Amico

Research Day

Introduction: Suicidality is a health concern among adolescents. Approximately, 1 million people attempt suicide each year and it is the second leading cause of death for those aged 10-19. Inpatient hospitalizations may be beneficial for individuals who pose a danger to themselves or others since it provides a safe environment for the individual to receive individualized care. Many individuals who have been admitted for psychiatric inpatient hospitalization have suicidal ideations or attempts. The Child and Adolescent Behavior Assessment-Youth Scale (CABA-Y) explores an individual’s stressors and problem behaviors that may be contributing to the reasons for hospitalization.

Objective: The purpose of …


Exploring The Demographic Dynamics Of Bronchopulmonary Dysplasia: Insights From A Multicenter Study, Pallavi Kawatra, Sharon Mcgrath Morrow, Joseph Collaco, Nancy Li, Yun Li May 2024

Exploring The Demographic Dynamics Of Bronchopulmonary Dysplasia: Insights From A Multicenter Study, Pallavi Kawatra, Sharon Mcgrath Morrow, Joseph Collaco, Nancy Li, Yun Li

Research Day

Introduction: Bronchopulmonary dysplasia (BPD) is a chronic lung disease commonly seen in premature infants, characterized by impaired lung development and respiratory complications. Its prevalence has been steadily increasing due to advancements in neonatal care, resulting in improved survival rates of extremely premature infants. This study aims to explore the demographic relationship between gestational age and BPD outcomes, shedding light on the impact of prematurity on disease severity and long-term pulmonary health.

Methods: Data was collected from 1351 patients, with 894 patients from Johns Hopkins and 457 from Children's Hospital of Philadelphia (CHOP) from 2008 to 2023. Three hundred forty-three patients …


Renal Function As A Predictor For Post-Amputation Mortality, Danich Qadir, Theja Bhamidipati, Nadia Awad, Evan Deutsch May 2024

Renal Function As A Predictor For Post-Amputation Mortality, Danich Qadir, Theja Bhamidipati, Nadia Awad, Evan Deutsch

Research Day

Abstract

The impact of renal insufficiency on mortality and healing potential in patients undergoing limb amputation is well-known. Previous literature has pointed towards renal function and dialysis dependency as the largest contributory factors towards postoperative complications. This study reviews renal function as an independent risk factor for post-amputation complications and examines the relationship between the degree of renal dysfunction and thelikelihood of post-amputation complications.

Methods

The NSQIP database for Division of Vascular Surgery from 2022-2023 was queried and 139 amputations were reviewed. Five cases were excluded due to incomplete renal data. A total of 134 cases remained for analysis. Patient …


Bertolotti’S Syndrome: Discovery In An Elderly Patient With Persistent Back Pain, Antonio Forte, Patrick Frick, Ron Lincow May 2024

Bertolotti’S Syndrome: Discovery In An Elderly Patient With Persistent Back Pain, Antonio Forte, Patrick Frick, Ron Lincow

Research Day

Background: Bertolotti’s syndrome is a congenital disorder where a lumbosacral transitional vertebrate articulates with the iliac crest of the pelvis, often causing back pain in young adult patients. In the elderly, this condition is rarely incidentally found and may be due to extraforaminal stenosis with the iliac crest.

Case Summary: We report the unusual case of a 76-year-old with an over 20-year history of bilateral back pain that occasionally radiates into the left buttock and calf found to have L5 left-sided lumbosacral articulation incidentally on lumbar imaging among multiple levels of spinal stenosis. This patient completed conservative management and multiple …


Informed Consent In Shoulder And Elbow Surgery, Puru Sadh, Antonio J. Almeda-Lopez, Benjamin Hershfeld, Dan Monessa, Brandon Klein, Randy M. Cohn, Adam D. Bitterman May 2024

Informed Consent In Shoulder And Elbow Surgery, Puru Sadh, Antonio J. Almeda-Lopez, Benjamin Hershfeld, Dan Monessa, Brandon Klein, Randy M. Cohn, Adam D. Bitterman

Research Day

Introduction:

Informed consent, a dynamic process, involves explaining procedure details to patients. Crucial for preserving autonomy, it requires comprehensive discussions, emphasizing necessity for documentation. Laws ensure awareness, but legal standards lack protection against paternalistic bias, posing legal risks. In orthopaedics, inadequacies in informed consent training contribute to litigation.

Methods:

A comprehensive literature review was conducted using the PubMed database to explore the landscape of informed consent practices in the context of shoulder and elbow surgery. The search strategy utilized a combination of Medical Subject Headings (MeSH) terms and free-text keywords, including "informed consent," "shoulder surgery," "elbow surgery," and "patient communication." …


Mycobacterium Avium Complex-Associated Vertebral Osteomyelitis In An Immunocompetent Patient: A Case Report, Jory P. Parson, Jack A. Grossweiler, Ira M. Garonzik, James E. Conway May 2024

Mycobacterium Avium Complex-Associated Vertebral Osteomyelitis In An Immunocompetent Patient: A Case Report, Jory P. Parson, Jack A. Grossweiler, Ira M. Garonzik, James E. Conway

Research Day

Introduction

Mycobacterium avium complex (MAC) infection in the spine is extremely rare, with its pathogenesis and epidemiology remaining poorly understood. Clinically, MAC infections commonly present with pulmonary, musculoskeletal, and disseminated disease. Manifestation of MAC infections, specifically disseminated disease to the spine, is uncommon in patients without human immunodeficiency virus or acquired immune deficiency syndrome.

Case Presentation

In December 2017, a 46-year-old immunocompetent man presented with severe lower back pain, right lower extremity pain, and a previous L5-S1 fusion. Imaging revealed pseudarthrosis at L5-S1 with halos around S1 screws. In March 2018, he underwent revision surgery with partial relief and began …


Clinical Outcomes And Complication Rates When Using Lyoplant Onlay Between Serial Craniectomy And Cranioplasty: A Single-Center Experience, Nathaniel Neavling, Manisha Koneru, Hamail Iqbal, Joseph Ifrach, Clint Badger, Corey Mossop, Ajith Thomas, Daniel Tonetti May 2024

Clinical Outcomes And Complication Rates When Using Lyoplant Onlay Between Serial Craniectomy And Cranioplasty: A Single-Center Experience, Nathaniel Neavling, Manisha Koneru, Hamail Iqbal, Joseph Ifrach, Clint Badger, Corey Mossop, Ajith Thomas, Daniel Tonetti

Research Day

Introduction: Decompressive craniectomy is a pervasive treatment modality for malignant ischemic stroke and traumatic injury. Usage of dural substitute onlay during craniectomy closure is largely determined by provider preference. Complication rates and clinical outcomes associated with Lyoplant (Aesculap, Center Valley, PA, USA) onlay is currently not well characterized. Here, we examined the rate of complications and clinical outcomes in craniectomies performed with either Lyoplant or another dural substitute.

Methods: Patients undergoing cranioplasty following either ischemic stroke or traumatic injury at a single site were analyzed between December 2013 and June 2023. Mann-Whitney U tests and Fisher’s exact tests were performed …


Premature Closure Of The Ductus Arteriosus As A Cause Of Intrauterine Fetal Demise: A Case Report, Amélie Harpey, Walter Kobasa, Noel Anupol May 2024

Premature Closure Of The Ductus Arteriosus As A Cause Of Intrauterine Fetal Demise: A Case Report, Amélie Harpey, Walter Kobasa, Noel Anupol

Research Day

INTRODUCTION

The ductus arteriosus (DA) is a cardiac structure present in utero, allowing for the bypass of the pulmonary circulation during fetal development. The DA closes within 24-48 hours of birth. DA patency is maintained in utero by a low oxygen gradient in the blood, endothelial NO production, and prostaglandins E1 and E21. Premature closure of the DA is a rare condition and can be idiopathic, a result of abnormal levels of circulating prostaglandins, or secondary to maternal ingestion of non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, or polyphenol-rich foods2. Prenatal closure of the DA can lead to cardiovascular dysfunction, resulting in …


Quantifying Pthlh And Ihh Gene Expression In The Growth Plate Forming And Non-Forming Ends Of The Mouse Metatarsal, Maria Biancaniello, Sherrie Wallace, Sarah Doelp, Kelsey M. Kjosness, Philip Reno May 2024

Quantifying Pthlh And Ihh Gene Expression In The Growth Plate Forming And Non-Forming Ends Of The Mouse Metatarsal, Maria Biancaniello, Sherrie Wallace, Sarah Doelp, Kelsey M. Kjosness, Philip Reno

Research Day

INTRODUCTION: The Parathyroid hormone-related protein (PTHrP, the product of the Pth-like hormone, Pthlh, gene)/Indian hedgehog (Ihh) feedback loop is a fundamental regulator of skeletal growth plates. The chondrocytes within the growth plate undergo the sequential resting, proliferative, and hypertrophic stages before being replaced by bone. Just prior to undergoing hypertrophy, pre-hypertrophic chondrocytes express Ihh, which signals back to resting cells to promote the expression of Pthlh. PTHrP then signals proliferating chondrocytes to limit their differentiation to hypertrophy and maintain a pool of mitotic cells in the growth plates of typical long bones. However, the metatarsals (MT) do not grow like …


Improvement In Coma Recovery Scale-Revised Score Following Trendelenburg Positioning In Syndrome Of The Trephined: A Case Report, Jesus Alvarado Salinas, Kayla Davenport, Ranjeev Chabra, Mithra B. Maneyapanda May 2024

Improvement In Coma Recovery Scale-Revised Score Following Trendelenburg Positioning In Syndrome Of The Trephined: A Case Report, Jesus Alvarado Salinas, Kayla Davenport, Ranjeev Chabra, Mithra B. Maneyapanda

Research Day

Disclosures: None

Setting: Inpatient Rehabilitation Facility

Patient: 44-year-old woman status post decompressive hemicraniectomy with suspected syndrome of the trephined.

Case Description: The patient sustained a non-traumatic brain injury secondary to ruptured right posterior communicating artery aneurysm. She required aneurysm coiling and right decompressive hemicraniectomy. Her course was complicated by right hemispheric strokes, seizures, and hydrocephalus requiring ventriculoperitoneal shunt (VPS) placement. She was admitted to inpatient rehabilitation for a specialized disorder of consciousness (DOC) program 6 weeks after the initial bleed. Her initial Coma Recovery Scale-Revised (CRS-R) score was a 3 of 23 indicating unresponsive wakefulness syndrome (UWS).

Assessment/Results: Patient remained …


Vesicular Eruption In A Woman With Systemic Lupus Erythematosus, Shane B. Devine, Harold Essenfeld, Katrina Hansen May 2024

Vesicular Eruption In A Woman With Systemic Lupus Erythematosus, Shane B. Devine, Harold Essenfeld, Katrina Hansen

Research Day

Introduction

Bullous systemic lupus erythematosus (BSLE) is a rare autoimmune blistering disorder that presents as a vesiculobullous eruption in around 5% of patients with a known diagnosis of systemic lupus erythematosus (SLE). The incidence of BSLE is greater in middle aged, African-American females. In some cases, BSLE is the initial clinical presentation leading to a SLE diagnosis. The development of BSLE may be associated with active extra-cutaneous manifestations of SLE, so a prompt diagnosis of BSLE is crucial to prevent any further complications of SLE. We present a case of a vesicular eruption in a woman with a previous diagnosis …