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2025

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Articles 5161 - 5190 of 8091

Full-Text Articles in Medical Specialties

Social Determinants Of Health Correlate With Placental Pathology, K. Rebecca Koob, Md, Lucy Ma, Md, Allison Goldberg, Md, Sarah Lawson, Bs, Taylor Extavour, Bs, Emily Torres, Bs, Joanna Chan, Md Mar 2025

Social Determinants Of Health Correlate With Placental Pathology, K. Rebecca Koob, Md, Lucy Ma, Md, Allison Goldberg, Md, Sarah Lawson, Bs, Taylor Extavour, Bs, Emily Torres, Bs, Joanna Chan, Md

Department of Pathology, Anatomy, and Cell Biology Posters

Background

  • The intrauterine environment is the earliest space for human development
  • Placental pathologies have been shown to correlate with perinatal outcomes
  • Social determinants of health (SDoH) have also been shown to correlate with perinatal outcomes
  • This study examined the association between SDoH at time of delivery and placental pathologies


Sonographic Evaluation Of An Urachal Remnant: A Case Report, Courtney Gushi Mar 2025

Sonographic Evaluation Of An Urachal Remnant: A Case Report, Courtney Gushi

SACAD: Scholarly Activities

Urachal anomalies are rare and often identified incidentally during diagnostic imaging studies, such as sonography. These anomalies are being detected with increasing frequency due to advancements in cross-sectional medical imaging. Sonography is a key diagnostic modality due to its lack of radiation, cost-effectiveness, and widespread ability. Urachal anomalies have the potential to undergo pathological changes, leading to inflammation, infection, and even malignancy. Therefore, it is imperative for sonographers to be proficient in identifying and understanding sonographic characteristics of urachal abnormalities.


All Quality Metrics Are Wrong; Some Quality Metrics Could Become Useful., Michael E Johansen, Andrew S Detty, Jonathan Doo Young Yun Mar 2025

All Quality Metrics Are Wrong; Some Quality Metrics Could Become Useful., Michael E Johansen, Andrew S Detty, Jonathan Doo Young Yun

Ambulatory and Primary Care Articles

No abstract provided.


Adverse Health Effects Of Waste Anesthetic Gases (Wags): A Scoping Review Of Genetic, Immunotoxic, And Reproductive Impacts, Cozette Wilkins Mar 2025

Adverse Health Effects Of Waste Anesthetic Gases (Wags): A Scoping Review Of Genetic, Immunotoxic, And Reproductive Impacts, Cozette Wilkins

Student Works

1 Background/Introduction: Occupational exposure to Waste Anesthetic Gases (WAGs) is a well-known concern for healthcare workers, especially those working in high-risk areas like the operating room (OR). Despite the implementation of safety measures such as WAG scavenging systems, there remains ongoing concern about the potential adverse health effects linked to exposure. This scoping review aims to map the existing evidence on the health risks associated with repeated WAG exposure, specifically focusing on genetic, immunotoxic, and reproductive health impacts. By synthesizing available data, this review seeks to better understand the extent of these risks and identify key gaps in the literature …


Early Postoperative Intraocular Pressure Profile Following Micropulse Vs Continuous Wave Transscleral Cyclophotocoagulation: Cohort Study, Wesam S. Shalaby, Amirmohsen Arbabi, Jae-Chiang Wong, Aakriti G. Shukla, Reza Razeghinejad, Daniel Lee, Marlene R. Moster, Jonathan S. Myers, Natasha N. Kolomeyer Mar 2025

Early Postoperative Intraocular Pressure Profile Following Micropulse Vs Continuous Wave Transscleral Cyclophotocoagulation: Cohort Study, Wesam S. Shalaby, Amirmohsen Arbabi, Jae-Chiang Wong, Aakriti G. Shukla, Reza Razeghinejad, Daniel Lee, Marlene R. Moster, Jonathan S. Myers, Natasha N. Kolomeyer

Wills Eye Hospital Papers

Aim: To compare the risk of early intraocular pressure (IOP) spikes following micropulse (MP) vs continuous wave (CW) transscleral cyclophotocoagulation (CPC).

Methods: Single-center, prospective, nonrandomized study that included glaucoma patients planned for MP- or CW-CPC at Wills Eye Hospital (2020–2021). IOP was measured using rebound tonometry (iCare) immediately before, immediately after, and 1 hour after the CPC, then on postoperative day 1. The primary outcome measure was the incidence of IOP spikes, defined as IOP elevation ≥10 mm Hg vs baseline. Patients with severe IOP spikes received IOP-lowering agents (topical or oral).

Results: Twenty-six eyes (15 CW and 11 MP) …


Treatment Group-Specific Inferences In Phase Iii Randomized Oncology Trials, Alexander D Sherry, Adina H Passy, Joseph Abi Jaoude, Timothy A Lin, Ramez Kouzy, Pavlos Msaouel, Ethan B Ludmir Mar 2025

Treatment Group-Specific Inferences In Phase Iii Randomized Oncology Trials, Alexander D Sherry, Adina H Passy, Joseph Abi Jaoude, Timothy A Lin, Ramez Kouzy, Pavlos Msaouel, Ethan B Ludmir

Faculty, Staff and Student Publications

Background: Estimation of comparative treatment effects between randomized groups is well-supported in randomized trials. By contrast, treatment group-specific inferences are challenging, as patients are selectively chosen for enrollment, and such inferences are formally discouraged by the CONSORT guidelines. The present study is the first-large scale assessment of the proportion of phase III oncology trials that present treatment group-specific inferences.

Methods: Published phase III randomized oncology trials were screened from ClinicalTrials.gov. Treatment group-specific inferences were defined by the presence of 95% CI or standard error for treatment-specific outcomes.

Results: A total of 774 phase III trials enrolling 568,080 patients were included. …


Periclavicular Multifocal, Infiltrative Extraneural Soft Tissue Perineuriomas: Illustrative Case, Ankur Khanna, Matthew Darlow, Rachna Jetly Shridhar, Matthew G. Cable Mar 2025

Periclavicular Multifocal, Infiltrative Extraneural Soft Tissue Perineuriomas: Illustrative Case, Ankur Khanna, Matthew Darlow, Rachna Jetly Shridhar, Matthew G. Cable

School of Medicine Faculty Publications

BACKGROUND Perineuriomas are benign, typically solitary tumors with intraneural and extraneural subtypes presenting distinct clinical manifestations and symptomatology. Here, the authors report a unique case of multifocal, infiltrative extraneural soft tissue perineuriomas localized to the shoulder. OBSERVATIONS A 33-year-old female presented with 1 year of right neck and shoulder pain accompanied by a new onset of numbness and tingling down her right arm. MRI of a mass apparent over her right trapezius and scapula revealed several mixed cystic and solid neoplasms encroaching on the C5–6 nerve roots and brachial plexus. The tumors were biopsied and confirmed by immunohistochemical staining to …


Prognostic Utility Of Palliative Prognostic Index In Advanced Cancer: A Systematic Review And Meta-Analysis, Si Qi Yoong, Hui Zhang, Dee Whitty, Wilson Wai San Tam, Wenru Wang, Davina Porock Mar 2025

Prognostic Utility Of Palliative Prognostic Index In Advanced Cancer: A Systematic Review And Meta-Analysis, Si Qi Yoong, Hui Zhang, Dee Whitty, Wilson Wai San Tam, Wenru Wang, Davina Porock

Research outputs 2022 to 2026

OBJECTIVES: To evaluate the prognostic utility of Palliative Prognostic Index (PPI) scores in predicting the death of adults with advanced cancer. METHODS: A systematic review and meta-analysis were conducted. Six databases were searched for articles published from inception till 16 February 2024. Observational studies reporting time-to-event outcomes of PPI scores used in any setting, timing and score cutoffs were eligible. Participants were adults with advanced cancer residing in any setting. Random effects meta-analysis was used to pool hazard, risk, or odds ratios. Findings were narratively synthesized when meta-analysis was not possible. RESULTS: Twenty-three studies (n = 11,235 patients) were included. …


A Workflow Enabling The Automated Synthesis, Chain-End Degradation, And Rapid Mass Spectrometry Analysis For Molecular Information Storage In Sequence-Defined Oligourethanes, Julia R Shuluk, Christopher D Wight, James R Howard, Mary E King, Sarah R Moor, Rachel J Dehoog, Samuel D Dahlhauser, Livia S Eberlin, Eric V Anslyn Mar 2025

A Workflow Enabling The Automated Synthesis, Chain-End Degradation, And Rapid Mass Spectrometry Analysis For Molecular Information Storage In Sequence-Defined Oligourethanes, Julia R Shuluk, Christopher D Wight, James R Howard, Mary E King, Sarah R Moor, Rachel J Dehoog, Samuel D Dahlhauser, Livia S Eberlin, Eric V Anslyn

Faculty, Staff and Students Publications

The field of molecular information storage has recently expanded to include abiotic sequence-defined polymers. While robust methods have been developed, there is a current bottleneck in the throughput of this work as information density is increased. Herein, we introduce an automated workflow in which a commercial peptide synthesizer composed of a single XYZ liquid-handling robot was adapted to both synthesize and sequence sequence-defined oligourethanes. Our sequencing method was improved to cut down the number of samples required for each oligomer from 13 to one. Additionally, we introduce the use of desorption electrospray ionization mass spectrometry as our analysis method for …


Stingers—A Review Of Current Understanding And Management, Teleale Gebeyehu, James Harrop, Stavros Matsoukas, Alexander Vaccaro Mar 2025

Stingers—A Review Of Current Understanding And Management, Teleale Gebeyehu, James Harrop, Stavros Matsoukas, Alexander Vaccaro

Department of Neurosurgery Faculty Papers

Abstract: A stinger is the transient sensory and motor loss of one upper extremity caused by a stretch or compression injury to the brachial plexus or the exiting cervical nerve roots. Athletes from contact sports like American football, rugby, wrestling, and horseback riding are most affected. Given today’s competitive athletic culture and recent advancements in sports medicine, understanding the clinical, diagnostic, and therapeutic aspects of stingers is crucial. Thus, this narrative review highlights current knowledge of pathology, clinical features, diagnostic modalities, radiologic measurements, management, rehabilitation, and return-to-play protocols. Recent and prominent English publications on adult athletes revealed that the brachial …


Sexual Health In The Era Of Artificial Intelligence: A Scoping Review Of The Literature, Elia Abou Chawareb, Brian H. Im, Sherry Lu, Muhammed A.M. Hammad, Tiffany R. Huang, Henry Chen, Faysal A. Yafi Mar 2025

Sexual Health In The Era Of Artificial Intelligence: A Scoping Review Of The Literature, Elia Abou Chawareb, Brian H. Im, Sherry Lu, Muhammed A.M. Hammad, Tiffany R. Huang, Henry Chen, Faysal A. Yafi

Student Papers, Posters & Projects

INTRODUCTION: Artificial Intelligence (AI) has witnessed significant growth in the field of medicine, leveraging machine learning, artificial neuron networks, and large language models. These technologies are effective in disease diagnosis, education, and prevention, while raising ethical concerns and potential challenges. However, their utility in sexual medicine remains relatively unexplored.

OBJECTIVE: We aim to provide a comprehensive summary of the status of AI in the field of sexual medicine.

METHODS: A comprehensive search was conducted using MeSH keywords, including "artificial intelligence," "sexual medicine," "sexual health," and "machine learning." Two investigators screened articles for eligibility within the PubMed and MEDLINE databases, with …


"The Role Of Venous Excess Ultrasound Score In Optimizing Acute Heart Failure Diagnosis And Prognosis, Saoussen Antit, Sarra Romdhane, Imen Mtiri, Lilia Zakhama Mar 2025

"The Role Of Venous Excess Ultrasound Score In Optimizing Acute Heart Failure Diagnosis And Prognosis, Saoussen Antit, Sarra Romdhane, Imen Mtiri, Lilia Zakhama

Journal of the Saudi Heart Association

Acute heart failure (AHF) is a critical condition with significant morbidity and mortality, necessitating timely and accurate diagnosis for effective management.

The Venous Excess Ultrasound (VExUS) score has emerged as a non-invasive diagnostic tool, aimed at evaluating venous congestion through ultrasound. This scoring system integrates assessments of the inferior vena cava, hepatic veins, portal veins, and renal venous flow to quantify congestion severity. By providing a real-time assessment of venous pressure, the VExUS score has shown potential in optimizing early diagnosis of AHF and predicting outcomes and overall prognosis.

Recent studies suggest that incorporating the VExUS score into clinical practice …


What Single-Cell Rna Sequencing Taught Us About Mgmt Expression In Glioblastoma, Iyad Alnahhas, Mehak Majid Khan, Wenyin Shi Mar 2025

What Single-Cell Rna Sequencing Taught Us About Mgmt Expression In Glioblastoma, Iyad Alnahhas, Mehak Majid Khan, Wenyin Shi

Department of Neurology Faculty Papers

Background.

The promoter methylation status of O-6-methylguanine-DNA methyltransferase (MGMTp) is an important prognostic marker in GBM. Previous studies showed that the expression of MGMT based on immunohistochemistry did not correlate with survival. This is partly because nontumor cells express MGMT. Single-cell sequencing assesses gene expression in tumor cells specifically.

Methods.

We used publicly available data from 3 recent single-cell/nucleus sequencing GBM studies that included MGMTp methylation status data for patients to evaluate MGMT expression at the single-cell level.

Results.

In the CPTAC study, a median of 0.82% and 5.7% of tumor cells expressed MGMT in the …


Retinal Hemorrhage Associated With Neonatal Idiopathic Thrombocytopenia, Samara J. Hamou, Iniya K. Adhan, Maureen E. Lloyd, Barry N. Wasserman Mar 2025

Retinal Hemorrhage Associated With Neonatal Idiopathic Thrombocytopenia, Samara J. Hamou, Iniya K. Adhan, Maureen E. Lloyd, Barry N. Wasserman

Wills Eye Hospital Papers

PURPOSE: To describe a premature neonate with thrombocytopenia and retinal hemorrhage.

OBSERVATION: A 33 week premature neonate with neonatal thrombocytopenia (34 × 109 platelet) was found to have left eye retinal hemorrhage. Bilateral retinal exam showed a healthy optic nerve and macula. A 10–12 disc diameter large nasal subretinal hemorrhage with an intraretinal white-centered hemorrhage was found. No other retinal abnormalities were found. Resolution of the hemorrhage occurred over the next three months. By this time, thrombocytopenia resolved (final platelet count: 259 × 109/L), and the patient was able to fix and follow.

CONCLUSIONS AND IMPORTANCE: Neonatal …


Prediction Of Persistent Incomplete Occlusion Of Intracranial Aneurysms Treated With Woven Endobridge Device, Muhammed Amir Essibayi, Mohamed Sobhi Jabal, Hasan Jamil, Hamza Adel Salim, Basel Musmar, Nimer Adeeb, Mahmoud Dibas, Nicole M. Cancelliere, Jose Danilo Bengzon, Oktay Algin, Sherief Ghozy, Sovann V. Lay, Adrien Guenego, Leonardo Renieri, Joseph Carnevale, Guillaume Saliou, Panagiotis Mastorakos, Kareem El Naamani, Eimad Shotar, Markus Möhlenbruch, Michael Kral, Charlotte Chung, Mohamed M. Salem, Ivan Lylyk, Paul M. Foreman, Hamza Shaikh, Vedran Župančić, Muhammad U. Hafeez, Joshua Catapano, Muhammad Waqas, Muhammed Said Besler, Yasin Celal Gunes, James D. Rabinov, Julian Maingard, Clemens M. Schirmer, Mariangela Piano, Anna L. Kühn, Caterina Michelozzi, Robert M. Starke, Ameer Hassan, Mark Ogilvie, Anh Nguyen, Jesse Jones, Waleed Brinjikji, Marie T. Nawka, Marios Psychogios, Christian Ulfert, Bryan Pukenas, Jan-Karl Burkhardt, Thien Huynh, Juan Carlos Martinez-Gutierrez, Sunil A. Sheth, Diana Slawski, Rabih Tawk, Benjamin Pulli, Boris Lubicz, Pietro Panni, Ajit S. Puri, Guglielmo Pero, Eytan Raz, Christoph J. Griessenauer, Hamed Asadi, Adnan Siddiqui, Elad I. Levy, Deepak Khatri, Neil Haranhalli, Andrew F. Ducruet, Felipe C. Albuquerque, Robert W. Regenhardt, Christopher J. Stapleton, Peter Kan, Vladimir Kalousek, Pedro Lylyk, Srikanth Boddu, Jared Knopman, Stavropoula I. Tjoumakaris, Hugo H. Cuellar-Saenz, Pascal Jabbour, Frédéric Clarençon, Nicola Limbucci, Vitor Mendes Pereira, Aman B. Patel, David J. Altschul, Adam A. Dmytriw, Worldwideweb Consortium Collaborators Mar 2025

Prediction Of Persistent Incomplete Occlusion Of Intracranial Aneurysms Treated With Woven Endobridge Device, Muhammed Amir Essibayi, Mohamed Sobhi Jabal, Hasan Jamil, Hamza Adel Salim, Basel Musmar, Nimer Adeeb, Mahmoud Dibas, Nicole M. Cancelliere, Jose Danilo Bengzon, Oktay Algin, Sherief Ghozy, Sovann V. Lay, Adrien Guenego, Leonardo Renieri, Joseph Carnevale, Guillaume Saliou, Panagiotis Mastorakos, Kareem El Naamani, Eimad Shotar, Markus Möhlenbruch, Michael Kral, Charlotte Chung, Mohamed M. Salem, Ivan Lylyk, Paul M. Foreman, Hamza Shaikh, Vedran Župančić, Muhammad U. Hafeez, Joshua Catapano, Muhammad Waqas, Muhammed Said Besler, Yasin Celal Gunes, James D. Rabinov, Julian Maingard, Clemens M. Schirmer, Mariangela Piano, Anna L. Kühn, Caterina Michelozzi, Robert M. Starke, Ameer Hassan, Mark Ogilvie, Anh Nguyen, Jesse Jones, Waleed Brinjikji, Marie T. Nawka, Marios Psychogios, Christian Ulfert, Bryan Pukenas, Jan-Karl Burkhardt, Thien Huynh, Juan Carlos Martinez-Gutierrez, Sunil A. Sheth, Diana Slawski, Rabih Tawk, Benjamin Pulli, Boris Lubicz, Pietro Panni, Ajit S. Puri, Guglielmo Pero, Eytan Raz, Christoph J. Griessenauer, Hamed Asadi, Adnan Siddiqui, Elad I. Levy, Deepak Khatri, Neil Haranhalli, Andrew F. Ducruet, Felipe C. Albuquerque, Robert W. Regenhardt, Christopher J. Stapleton, Peter Kan, Vladimir Kalousek, Pedro Lylyk, Srikanth Boddu, Jared Knopman, Stavropoula I. Tjoumakaris, Hugo H. Cuellar-Saenz, Pascal Jabbour, Frédéric Clarençon, Nicola Limbucci, Vitor Mendes Pereira, Aman B. Patel, David J. Altschul, Adam A. Dmytriw, Worldwideweb Consortium Collaborators

Department of Neurosurgery Faculty Papers

While the Woven EndoBridge (WEB) device has transformed the treatment of wide-neck intracranial aneurysms, incomplete occlusion remains a significant challenge requiring better understanding of contributing factors. A retrospective analysis was conducted on multicenter data from patients who underwent WEB device treatment for intracranial aneurysms between January 2011 and December 2022. Using machine learning models, Cox regression, and time-stratified analyses, we evaluated factors associated with persistent incomplete occlusion, defined as non-improving Raymond-Roy Occlusion Classification grade 2 or 3 at final follow-up. Among 813 patients (607 with < 24 months follow-up, 206 with ≥ 24 months), machine learning analysis identified aneurysm height, Acom location, neck diameter, and pretreatment mRS as predictors of persistent incomplete occlusion. On Cox regression. larger aneurysm neck diameter (HR 1.13, 95% CI 1.01-1.27, p = 0.027) and height (HR 1.14, 95% CI 1.02-1.26, p = 0.017), and radial …


Lower Cytoplasmic Expression Of Ddit4 Is Associated With Poor Prognosis In Gastric Cancer Patients, Masoumeh Dehghan Manshadi, Fatemeh Tajik, Leili Saeednejad Zanjani, Farideh Hashemi, Mandana Rahimi, Fahimeh Fattahi, Sadegh Safaei, Zahra Madjd, Roya Ghods Mar 2025

Lower Cytoplasmic Expression Of Ddit4 Is Associated With Poor Prognosis In Gastric Cancer Patients, Masoumeh Dehghan Manshadi, Fatemeh Tajik, Leili Saeednejad Zanjani, Farideh Hashemi, Mandana Rahimi, Fahimeh Fattahi, Sadegh Safaei, Zahra Madjd, Roya Ghods

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

INTRODUCTION: DNA damage-inducible transcript 4 (DDIT4), also known as Redd1, Dig2, and RTP801 was identified to be upregulated in response to a variety of cellular stresses, including DNA damage, endoplasmic reticulum stress, and energy stress. Several studies have discovered that dysregulation of DDIT4 involved in various cancers with paradoxical expression and roles. Hence, this study was designed to investigate the clinical significance and prognostic value of DDIT4 in different subtypes of gastric cancer (GC).

MATERIALS AND METHODS: To evaluate the expression pattern of DDIT4 in GC tissues as well as adjacent normal tissue, we utilized immunohistochemistry on tissue microarray (TMA) …


Spasticity And Pain And The Improvement Of Muscle Strength In Athletes With Partial Spinal Cord Injury, Dariusz Tadeusz Skalski, Kinga Łosińska, Magdalena Prończuk, Alicja Markiel, Jarosław Markowski, Jan Pilch, Joanna Motowidło, Petr Stastny, Adam Maszczyk Mar 2025

Spasticity And Pain And The Improvement Of Muscle Strength In Athletes With Partial Spinal Cord Injury, Dariusz Tadeusz Skalski, Kinga Łosińska, Magdalena Prończuk, Alicja Markiel, Jarosław Markowski, Jan Pilch, Joanna Motowidło, Petr Stastny, Adam Maszczyk

Baltic Journal of Health and Physical Activity

Spasticity and chronic pain are common secondary complications following spinal cord injury (SCI), significantly impacting functional recovery and quality of life. Robot-assisted gait training (RAGT) using the Lokomat has been proposed as an effective rehabilitation method to improve motor function and reduce these symptoms. However, the impact of training frequency on rehabilitation outcomes remains unclear, particularly in athletes and physically active individuals. This study aimed to evaluate the effects of Lokomat training on spasticity reduction, pain alleviation, and improvements in gait function and lower limb muscle strength in athletes and physically active individuals with partial SCI. A total of 45 …


Predictors Of Outcomes In Pediatric Pulmonary Arterial Hypertension, Aditya Doni Pradana Mar 2025

Predictors Of Outcomes In Pediatric Pulmonary Arterial Hypertension, Aditya Doni Pradana

Journal of the Saudi Heart Association

There is no abstract for this article type.


Be(D) Fast For Faster Screening, Allison Goshorn, Alaine Schauer Mar 2025

Be(D) Fast For Faster Screening, Allison Goshorn, Alaine Schauer

Articles, Abstracts, and Reports

No abstract provided.


Evaluation Of The Distress Thermometer In Older Patients With Cancer, Charlotte Zuber, Kristine Swartz, Andrew Chapman, Lora Rhodes, Tingting Zhan, Kuang-Yi Wen Mar 2025

Evaluation Of The Distress Thermometer In Older Patients With Cancer, Charlotte Zuber, Kristine Swartz, Andrew Chapman, Lora Rhodes, Tingting Zhan, Kuang-Yi Wen

Kimmel Cancer Center Faculty Papers

INTRODUCTION: The Geriatric Depression Scale is a useful tool in screening for depression in older adults, a particularly vulnerable population in oncology. The National Comprehensive Cancer Network (NCCN) Distress Thermometer (DT) has been validated as a fast and effective screening tool for psychological distress in general oncology populations, and it could possibly be used as a surrogate for the longer Geriatric Depression Scale (GDS) test in older adults with cancer.

MATERIALS AND METHODS: In this retrospective cross-sectional study in older adults prior to starting cancer treatment, we evaluated the relationship between the DT and GDS by comparing 242 older adults …


Gene Expression Profiling Of Pancreatic Ductal Adenocarcinoma Cells In Hypercapnia Identifies Siah3 As A Novel Prognostic Biomarker, Nitzan Zohar, Ryan Maguire, Saed Khalilieh, Aditi Jain, Dmitriy Bosykh, Wilbur B. Bowne, Harish Lavu, Charles J. Yeo, Avinoam Nevler Mar 2025

Gene Expression Profiling Of Pancreatic Ductal Adenocarcinoma Cells In Hypercapnia Identifies Siah3 As A Novel Prognostic Biomarker, Nitzan Zohar, Ryan Maguire, Saed Khalilieh, Aditi Jain, Dmitriy Bosykh, Wilbur B. Bowne, Harish Lavu, Charles J. Yeo, Avinoam Nevler

Department of Surgery Faculty Papers

Hypercapnia is a key feature of the respiratory microenvironment in many pathologic conditions. It occurs both as a regional and as a systemic process, and it is associated with multiple metabolic changes such as mitochondrial dysfunction, decreased ATP production, and metabolic shift from glycolytic energy production to fatty acid metabolism. In the cancer tumor microenvironment, hypercapnia has been linked at times to enhanced cell migration, invasion, and chemoresistance. Our previous work has shown that hypercapnia-associated gene signatures can be used as prognostic biomarkers. However, unlike the hypoxia-inducible factor pathway, there are no validated targets to quantify hypercapnia. In this study, …


Rare Damaging Ccr2 Variants Are Associated With Lower Lifetime Cardiovascular Risk, Marios K Georgakis, Rainer Malik, Omar El Bounkari, Natalie R Hasbani, Jiang Li, Jennifer E Huffman, Gabrielle Shakt, Reinier W P Tack, Tamara N Kimball, Yaw Asare, Alanna C Morrison, Noah L Tsao, Renae Judy, Braxton D Mitchell, Huichun Xu, May E Montasser, Ron Do, Eimear E Kenny, Ruth J F Loos, James G Terry, John Jeffrey Carr, Joshua C Bis, Bruce M Psaty, W T Longstreth, Kendra A Young, Sharon M Lutz, Michael H Cho, Jai Broome, Alyna T Khan, Fei Fei Wang, Nancy Heard-Costa, Sudha Seshadri, Ramachandran S Vasan, Nicholette D Palmer, Barry I Freedman, Donald W Bowden, Lisa R Yanek, Brian G Kral, Lewis C Becker, Patricia A Peyser, Lawrence F Bielak, Farah Ammous, April P Carson, Michael E Hall, Laura M Raffield, Stephen S Rich, Wendy S Post, Russel P Tracy, Kent D Taylor, Xiuqing Guo, Michael C Mahaney, Joanne E Curran, John Blangero, Shoa L Clarke, Jeffrey W Haessler, Yao Hu, Themistocles L Assimes, Charles Kooperberg, Jürgen Bernhagen, Christopher D Anderson, Scott M Damrauer, Ramin Zand, Jerome I Rotter, Paul S De Vries, Martin Dichgans Mar 2025

Rare Damaging Ccr2 Variants Are Associated With Lower Lifetime Cardiovascular Risk, Marios K Georgakis, Rainer Malik, Omar El Bounkari, Natalie R Hasbani, Jiang Li, Jennifer E Huffman, Gabrielle Shakt, Reinier W P Tack, Tamara N Kimball, Yaw Asare, Alanna C Morrison, Noah L Tsao, Renae Judy, Braxton D Mitchell, Huichun Xu, May E Montasser, Ron Do, Eimear E Kenny, Ruth J F Loos, James G Terry, John Jeffrey Carr, Joshua C Bis, Bruce M Psaty, W T Longstreth, Kendra A Young, Sharon M Lutz, Michael H Cho, Jai Broome, Alyna T Khan, Fei Fei Wang, Nancy Heard-Costa, Sudha Seshadri, Ramachandran S Vasan, Nicholette D Palmer, Barry I Freedman, Donald W Bowden, Lisa R Yanek, Brian G Kral, Lewis C Becker, Patricia A Peyser, Lawrence F Bielak, Farah Ammous, April P Carson, Michael E Hall, Laura M Raffield, Stephen S Rich, Wendy S Post, Russel P Tracy, Kent D Taylor, Xiuqing Guo, Michael C Mahaney, Joanne E Curran, John Blangero, Shoa L Clarke, Jeffrey W Haessler, Yao Hu, Themistocles L Assimes, Charles Kooperberg, Jürgen Bernhagen, Christopher D Anderson, Scott M Damrauer, Ramin Zand, Jerome I Rotter, Paul S De Vries, Martin Dichgans

Faculty, Staff and Student Publications

BACKGROUND: Previous work has shown a role of CCL2, a key chemokine governing monocyte trafficking, in atherosclerosis. However, it remains unknown whether targeting CCR2, the cognate receptor of CCL2, provides protection against human atherosclerotic cardiovascular disease.

METHODS: Computationally predicted damaging or loss-of-function (REVEL > 0.5) variants within CCR2 were detected in whole-exome-sequencing data from 454,775 UK Biobank participants and tested for association with cardiovascular endpoints in gene-burden tests. Given the key role of CCR2 in monocyte mobilization, variants associated with lower monocyte count were prioritized for experimental validation. The response to CCL2 of human cells transfected with these variants was tested …


Non-Canonical Splice Variants In Thoracic Aortic Dissection Cases And Marfan Syndrome With Negative Genetic Testing, David R Murdock, Dong-Chuan Guo, John S Depaolo, Ulrike Schwarze, Xue-Yan Duan, Alana C Cecchi, Isabella C Marin, Yingying Tang, Jessica X Chong, Michael J Bamshad, Kathleen A Leppig, Peter H Byers, Scott M Damrauer, Dianna M Milewicz Mar 2025

Non-Canonical Splice Variants In Thoracic Aortic Dissection Cases And Marfan Syndrome With Negative Genetic Testing, David R Murdock, Dong-Chuan Guo, John S Depaolo, Ulrike Schwarze, Xue-Yan Duan, Alana C Cecchi, Isabella C Marin, Yingying Tang, Jessica X Chong, Michael J Bamshad, Kathleen A Leppig, Peter H Byers, Scott M Damrauer, Dianna M Milewicz

Faculty, Staff and Student Publications

Individuals with heritable thoracic aortic disease (HTAD) face a high risk of deadly aortic dissections, but genetic testing identifies causative variants in only a minority of cases. We explored the contribution of non-canonical splice variants (NCVAS) to thoracic aortic disease (TAD) using SpliceAI and sequencing data from diverse cohorts, including 551 early-onset sporadic dissection cases and 437 HTAD probands with exome sequencing, 57 HTAD pedigrees with whole genome sequencing, and select sporadic cases with clinical panel testing. NCVAS were identified in syndromic HTAD genes such as FBN1, SMAD3, and COL3A1, including intronic variants in FBN1 in two Marfan syndrome (MFS) …


Dna-Pk Inhibition Sustains The Antitumor Innate Immune Response In Small Cell Lung Cancer, Caterina De Rosa, Floriana Morgillo, Luisa Amato, Francesca Iommelli, Viviana De Rosa, Virginia Tirino, Federica Papaccio, Concetta Tuccillo, Gaetano Di Guida, Domenico Michele D'Angiolella, Alessandra Di Liello, Silvia Zappavigna, Michele Caraglia, Antonio Gambardella, Valerio Nardone, Kavya Ramkumar, Qi Wang, Jing Wang, Ferdinando De Vita, Davide Ciardiello, Erika Martinelli, Teresa Troiani, Stefania Napolitano, Giulia Martini, Alberto Servetto, Lauren Averett Byers, Fortunato Ciardiello, Carminia Maria Della Corte Mar 2025

Dna-Pk Inhibition Sustains The Antitumor Innate Immune Response In Small Cell Lung Cancer, Caterina De Rosa, Floriana Morgillo, Luisa Amato, Francesca Iommelli, Viviana De Rosa, Virginia Tirino, Federica Papaccio, Concetta Tuccillo, Gaetano Di Guida, Domenico Michele D'Angiolella, Alessandra Di Liello, Silvia Zappavigna, Michele Caraglia, Antonio Gambardella, Valerio Nardone, Kavya Ramkumar, Qi Wang, Jing Wang, Ferdinando De Vita, Davide Ciardiello, Erika Martinelli, Teresa Troiani, Stefania Napolitano, Giulia Martini, Alberto Servetto, Lauren Averett Byers, Fortunato Ciardiello, Carminia Maria Della Corte

Faculty, Staff and Student Publications

Small cell lung cancer (SCLC) is a highly aggressive form of lung cancer with limited treatment options. Patients often respond well to initial chemo-immunotherapy but relapse quickly, necessitating new strategies to enhance immune responsiveness. Recent research explores combining DNA-damaging therapies with immunotherapy to activate the STING pathway and improve the antitumor immune response. The addition of DNA Damage Repair (DDR) inhibitors, such as DNA-PKcs inhibitors, after chemotherapy has shown promise in activating innate immune sensors and enhancing CD8


Trajectories Of Forced Vital Capacity In Patients With Systemic Sclerosis-Associated Interstitial Lung Disease, Oliver Distler, Madelon C Vonk, Arata Azuma, Maureen D Mayes, Dinesh Khanna, Kristin B Highland, Gerrit Toenges, Margarida Alves, Yannick Allanore Mar 2025

Trajectories Of Forced Vital Capacity In Patients With Systemic Sclerosis-Associated Interstitial Lung Disease, Oliver Distler, Madelon C Vonk, Arata Azuma, Maureen D Mayes, Dinesh Khanna, Kristin B Highland, Gerrit Toenges, Margarida Alves, Yannick Allanore

Faculty, Staff and Student Publications

We used data from the SENSCIS and SENSCIS-ON trials to assess decline in forced vital capacity (FVC) in patients with systemic sclerosis-associated interstitial lung disease (SSc-ILD) who received long-term treatment with nintedanib and the effect of switching patients from placebo to nintedanib. In the SENSCIS trial, patients were randomised to receive nintedanib or placebo until the last patient reached week 52 but for ≤ 100 weeks. In SENSCIS-ON, the extension to SENSCIS, all patients received open-label nintedanib. Per protocol, the off-treatment period between these trials was ≤ 12 weeks. We assessed the trajectory of FVC in patients who received nintedanib …


Dependence Of Mitochondrial Calcium Signalling And Dynamics On The Disaggregase, Clpb, Donato D'Angelo, Víctor H. Sánchez-Vázquez, Benjamín Cartes-Saavedra, Denis Vecellio Reane, Ryan R. Cupo, Hilda Delgado De La Herran, Giorgia Ghirardo, James Shorter, Ron A. Wevers, Saskia B. Wortmann, Fabiana Perocchi, Rosario Rizzuto, Anna Raffaello, György Hajnóczky Mar 2025

Dependence Of Mitochondrial Calcium Signalling And Dynamics On The Disaggregase, Clpb, Donato D'Angelo, Víctor H. Sánchez-Vázquez, Benjamín Cartes-Saavedra, Denis Vecellio Reane, Ryan R. Cupo, Hilda Delgado De La Herran, Giorgia Ghirardo, James Shorter, Ron A. Wevers, Saskia B. Wortmann, Fabiana Perocchi, Rosario Rizzuto, Anna Raffaello, György Hajnóczky

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Cells utilize protein disaggregases to avoid abnormal protein aggregation that causes many diseases. Among these, caseinolytic peptidase B protein homolog (CLPB) is localized in the mitochondrial intermembrane space and linked to human disease. Upon CLPB loss, MICU1 and MICU2, regulators of the mitochondrial calcium uniporter complex (mtCU), and OPA1, a main mediator of mitochondrial fusion, become insoluble but the functional outcome remains unclear. In this work we demonstrate that CLPB is required to maintain mitochondrial calcium signalling and fusion dynamics. CLPB loss results in altered mtCU composition, interfering with mitochondrial calcium uptake independently of cytosolic calcium and mitochondrial membrane potential. …


Islet Single-Cell Transcriptomic Profiling During Obesity-Induced Beta Cell Expansion In Female Mice, Peter M Masschelin, Scott A Ochsner, Sean M Hartig, Neil J Mckenna, Aaron R Cox Mar 2025

Islet Single-Cell Transcriptomic Profiling During Obesity-Induced Beta Cell Expansion In Female Mice, Peter M Masschelin, Scott A Ochsner, Sean M Hartig, Neil J Mckenna, Aaron R Cox

Faculty, Staff and Student Publications

Targeting beta cell proliferation is an appealing approach to restore glucose control in type 1 diabetes. However, the underlying mechanisms of beta cell proliferation remain incompletely understood, limiting identification of new therapeutic targets. Obesity is a naturally occurring process that potently induces human and rodent beta cell replication, representing an ideal model to study mechanisms of beta cell proliferation. We showed previously acute whole-body


Protocol For Unlocking Alternative Polyadenylation Insights From Bulk Rna-Seq Data With Polyaminer-Bulk, Venkata Jonnakuti, Sriya Jonnakuti, Hari Krishna Yalamanchili Mar 2025

Protocol For Unlocking Alternative Polyadenylation Insights From Bulk Rna-Seq Data With Polyaminer-Bulk, Venkata Jonnakuti, Sriya Jonnakuti, Hari Krishna Yalamanchili

Duncan NRI Faculty and Staff Publications

PolyAMiner-Bulk, a deep-learning-based algorithm to decode alternative polyadenylation (APA) dynamics from bulk RNA sequencing (RNA-seq) data, enables scientists to identify and quantify APA events from processed bulk RNA-seq data. The protocol allows researchers to explore differential APA usage between two conditions and gain a better understanding of post-transcriptional regulatory mechanisms. The major steps involve input data preparation, executing PolyAMiner-Bulk, and interpreting the results. A basic familiarity with pre-processing bulk RNA-seq data and command-line tools is suggested.

For complete details on the use and execution of this protocol, please refer to Jonnakuti et al.1


Antimicrobial Performance Of A Novel Drug-Eluting Bioenvelope, Zerelda Esquer Garrigos, Sunil Kapur, Michelle Leroux Williams, M Rizwan Sohail Mar 2025

Antimicrobial Performance Of A Novel Drug-Eluting Bioenvelope, Zerelda Esquer Garrigos, Sunil Kapur, Michelle Leroux Williams, M Rizwan Sohail

Faculty, Staff and Students Publications

No abstract provided.


Neighborhood Disadvantage And Inequities In Access To Preemptive And Living Kidney Transplantation, Brandon M Fairless, Oluwatunmise A Fawole, Duc T Nguyen, Ankona Banerjee, Kenneth J Nobleza, Abiodun O Oluyomi, Omar Rosales, Jayna M Dave, Elizabeth A Onugha Mar 2025

Neighborhood Disadvantage And Inequities In Access To Preemptive And Living Kidney Transplantation, Brandon M Fairless, Oluwatunmise A Fawole, Duc T Nguyen, Ankona Banerjee, Kenneth J Nobleza, Abiodun O Oluyomi, Omar Rosales, Jayna M Dave, Elizabeth A Onugha

Children’s Nutrition Research Center Staff Publications

Key Points:

  1. Pediatric patients residing in low-resource neighborhoods experienced lower rates of preemptive and living donor kidney transplantation.

  2. Household-level factors (single-parent, non-English primary language, and receiving government assistance) may also affect the type of transplant received.

  3. Area Deprivation Index scores offer an objective way to quantify neighborhood-level disadvantage and can enhance pretransplant screening.

Background: Living donor kidney transplant (LDKT) generally results in better outcomes than deceased donor kidney transplant (DDKT). Preemptive kidney transplant (KT) allows patients to bypass undergoing maintenance dialysis and is associated with improved patient and graft survival. Studies in the US pediatric population have shown racial-ethnic disparities …