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Articles 511 - 540 of 772

Full-Text Articles in Diseases

Adaptation Of The Socioecological Model To Address Disparities In Engagement Of Black Men In Prostate Cancer Genetic Testing, Amy Leader, Timothy Rebbeck, William Oh, Alpa Patel, Eric Winer, Leeann Bailey, Leonard Gomella, Crystal Lumpkins, Isla Garraway, Lisa Aiello, Monica Baskin, Heather H Cheng, Kathleen Cooney, Amanda Ganzak, Daniel George, Susan Halabi, Feighanne Hathaway, Claire Healy, Joseph W Kim, Michael Leapman, Stacy Loeb, Kara Maxwell, Christopher Mcnair, Todd Morgan, Breanne Prindeville, Howard R Soule, Whitney Steward, Sakinah Suttiratana, Mary-Ellen Taplin, Kosj Yamoah, Thierry Fortune, Kris Bennett, Joshua Blanding-Godbolt, Laura Gross, Veda Giri Sep 2024

Adaptation Of The Socioecological Model To Address Disparities In Engagement Of Black Men In Prostate Cancer Genetic Testing, Amy Leader, Timothy Rebbeck, William Oh, Alpa Patel, Eric Winer, Leeann Bailey, Leonard Gomella, Crystal Lumpkins, Isla Garraway, Lisa Aiello, Monica Baskin, Heather H Cheng, Kathleen Cooney, Amanda Ganzak, Daniel George, Susan Halabi, Feighanne Hathaway, Claire Healy, Joseph W Kim, Michael Leapman, Stacy Loeb, Kara Maxwell, Christopher Mcnair, Todd Morgan, Breanne Prindeville, Howard R Soule, Whitney Steward, Sakinah Suttiratana, Mary-Ellen Taplin, Kosj Yamoah, Thierry Fortune, Kris Bennett, Joshua Blanding-Godbolt, Laura Gross, Veda Giri

Department of Medical Oncology Faculty Papers

BACKGROUND: Black men consistently have higher rates of prostate cancer (PCA)- related mortality. Advances in PCA treatment, screening, and hereditary cancer assessment center around germline testing (GT). Of concern is the significant under-engagement of Black males in PCA GT, limiting the benefit of precision therapy and tailored cancer screening despite longstanding awareness of these disparities. To address these critical disparities, the Socioecological Model (SEM) was employed to develop comprehensive recommendations to overcome barriers and implement equitable strategies to engage Black males in PCA GT.

METHODS: Clinical/research experts, national organization leaders, and community stakeholders spanning multiple regions in US and Africa …


Impact Of An Online Decision Support Tool For Ductal Carcinoma In Situ (Dcis) Using A Pre-Post Design (Aft-25), Elissa Ozanne, Kellyn Maves, Angela Tramontano, Thomas Lynch, Alastair Thompson, Ann Partridge, Elizabeth Frank, Deborah Collyar, Desiree Basila, Donna Pinto, Terry Hyslop, Marc Ryser, Shoshana Rosenberg, E. Shelley Hwang, Rinaa Punglia Sep 2024

Impact Of An Online Decision Support Tool For Ductal Carcinoma In Situ (Dcis) Using A Pre-Post Design (Aft-25), Elissa Ozanne, Kellyn Maves, Angela Tramontano, Thomas Lynch, Alastair Thompson, Ann Partridge, Elizabeth Frank, Deborah Collyar, Desiree Basila, Donna Pinto, Terry Hyslop, Marc Ryser, Shoshana Rosenberg, E. Shelley Hwang, Rinaa Punglia

Department of Pharmacology and Experimental Therapeutics Faculty Papers

BACKGROUND: The heterogeneous biology of ductal carcinoma in situ (DCIS), as well as the variable outcomes, in the setting of numerous treatment options have led to prognostic uncertainty. Consequently, making treatment decisions is challenging and necessitates involved communication between patient and provider about the risks and benefits. We developed and investigated an interactive decision support tool (DST) designed to improve communication of treatment options and related long-term risks for individuals diagnosed with DCIS.

FINDINGS: The DST was developed for use by individuals aged > 40 years with DCIS and is based on a disease simulation model that integrates empirical data and …


Association Of Right Ventricular Dysfunction With Risk Of Neurodevelopmental Impairment In Infants With Pulmonary Hypertension, Rossana Romero Orozco, Tazuddin Mohammed, Kerri Carter, Shaaron Brown, Stephen Miller, Roy Sabo, Meredith Campbell Joseph, Uyen Truong, Megha Nair, Victoria Anderson, Jie Xu, Judith Voynow, Karen Hendricks-Muñoz Sep 2024

Association Of Right Ventricular Dysfunction With Risk Of Neurodevelopmental Impairment In Infants With Pulmonary Hypertension, Rossana Romero Orozco, Tazuddin Mohammed, Kerri Carter, Shaaron Brown, Stephen Miller, Roy Sabo, Meredith Campbell Joseph, Uyen Truong, Megha Nair, Victoria Anderson, Jie Xu, Judith Voynow, Karen Hendricks-Muñoz

SKMC Student Presentations and Publications

(1) Background: Pulmonary hypertension (PH) increases pulmonary vascular resistance and right ventricular (RV) afterload. Assessment of RV systolic function in PH using RV fractional area change (RV FAC) as a marker directly correlates with mortality and the need for extracorporeal membrane oxygenation (ECMO). However, few studies have assessed neurodevelopmental outcomes. We hypothesize that cardiac RV systolic dysfunction with lower RV FAC is associated with worse neurodevelopmental impairment (NI).

(2) Methods: Retrospective study of 42 subjects with PH to evaluate neurodevelopmental outcomes in the first two years of life based on (i) subjective assessment of RV systolic function and (ii) RV …


The Impact Of Hypertension On Clinical Outcomes In Moyamoya Disease: A Multicenter, Propensity Score-Matched Analysis, Basel Musmar, Joanna Roy, Hammam Abdalrazeq, Elias Atallah, Kareem El Naamani, Ching-Jen Chen, Roland Jabre, Hassan Saad, Jonathan Grossberg, Adam Dmytriw, Aman Patel, Mirhojjat Khorasanizadeh, Christopher Ogilvy, Ajith Thomas, Andre Monteiro, Adnan Siddiqui, Gustavo Cortez, Ricardo Hanel, Guilherme Porto, Alejandro Spiotta, Anthony Piscopo, David Hasan, Mohammad Ghorbani, Joshua Weinberg, Shahid Nimjee, Kimon Bekelis, Mohamed Salem, Jan-Karl Burkhardt, Akli Zetchi, Charles Matouk, Brian Howard, Rosalind Lai, Rose Du, Rawad Abbas, Georgios Sioutas, Abdelaziz Amllay, Alfredo Munoz, Nabeel Herial, Stavropoula Tjoumakaris, Michael Gooch, Robert Rosenwasswer, Pascal Jabbour Sep 2024

The Impact Of Hypertension On Clinical Outcomes In Moyamoya Disease: A Multicenter, Propensity Score-Matched Analysis, Basel Musmar, Joanna Roy, Hammam Abdalrazeq, Elias Atallah, Kareem El Naamani, Ching-Jen Chen, Roland Jabre, Hassan Saad, Jonathan Grossberg, Adam Dmytriw, Aman Patel, Mirhojjat Khorasanizadeh, Christopher Ogilvy, Ajith Thomas, Andre Monteiro, Adnan Siddiqui, Gustavo Cortez, Ricardo Hanel, Guilherme Porto, Alejandro Spiotta, Anthony Piscopo, David Hasan, Mohammad Ghorbani, Joshua Weinberg, Shahid Nimjee, Kimon Bekelis, Mohamed Salem, Jan-Karl Burkhardt, Akli Zetchi, Charles Matouk, Brian Howard, Rosalind Lai, Rose Du, Rawad Abbas, Georgios Sioutas, Abdelaziz Amllay, Alfredo Munoz, Nabeel Herial, Stavropoula Tjoumakaris, Michael Gooch, Robert Rosenwasswer, Pascal Jabbour

Department of Neurosurgery Faculty Papers

BACKGROUND: Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive steno-occlusive changes in the internal carotid arteries, leading to an abnormal vascular network. Hypertension is prevalent among MMD patients, raising concerns about its impact on disease outcomes. This study aims to compare the clinical characteristics and outcomes of MMD patients with and without hypertension.

METHODS: We conducted a multicenter, retrospective study involving 598 MMD patients who underwent surgical revascularization across 13 academic institutions in North America. Patients were categorized into hypertensive (n=292) and non-hypertensive (n=306) cohorts. Propensity score matching (PSM) was performed to adjust for baseline differences.

RESULTS: …


Association Of Chronic Kidney Disease With Postoperative Outcomes: A National Surgical Quality Improvement Program (Nsqip) Multi-Specialty Surgical Cohort Analysis, Carlos Riveros, Sanjana Ranganathan, Yash B. Shah, Emily Huang, Jiaqiong Xu, Enshuo Hsu, Michael Geng, Siqi Hu, Zachary Melchiode, Brian J. Miles, Nestor Esnaola, Zachary Klaassen, Angela Jerath, Christopher J.D. Wallis, Raj Satkunasivam Sep 2024

Association Of Chronic Kidney Disease With Postoperative Outcomes: A National Surgical Quality Improvement Program (Nsqip) Multi-Specialty Surgical Cohort Analysis, Carlos Riveros, Sanjana Ranganathan, Yash B. Shah, Emily Huang, Jiaqiong Xu, Enshuo Hsu, Michael Geng, Siqi Hu, Zachary Melchiode, Brian J. Miles, Nestor Esnaola, Zachary Klaassen, Angela Jerath, Christopher J.D. Wallis, Raj Satkunasivam

Student Papers, Posters & Projects

BACKGROUND: Chronic kidney disease (CKD) is associated with higher incidence of major surgery. No studies have evaluated the association between preoperative kidney function and postoperative outcomes across a wide spectrum of procedures. We aimed to evaluate the association between CKD and 30-day postoperative outcomes across surgical specialties.

METHODS: We selected adult patients undergoing surgery across eight specialties. The primary study endpoint was major complications, defined as death, unplanned reoperation, cardiac complication, or stroke within 30 days following surgery. Secondary outcomes included Clavien-Dindo high-grade complications, as well as cardiac, pulmonary, infectious, and thromboembolic complications. Multivariable regression was performed to evaluate the …


Efficacy Of Thoracic Endovascular Aortic Repair Versus Medical Therapy For Treatment Of Type B Aortic Dissection, Karam Motawea, Samah Rouzan, Rowan Elhalag, Abdelrhaman Abdelwahab, Hussam Al Hennawi, Salem Elshenawy, Mai Saad Mohamed, Pensée Chébl, Mohamed Salem Madian, Mostafa Elsayed Elsayed Hewalla, Sarya Swed, Wael Hafez, Bisher Sawaf, Samer Kaspo, Naim Battikh, Mohammed Najdat Seijari, Amr Farwati, Amine Rakab Sep 2024

Efficacy Of Thoracic Endovascular Aortic Repair Versus Medical Therapy For Treatment Of Type B Aortic Dissection, Karam Motawea, Samah Rouzan, Rowan Elhalag, Abdelrhaman Abdelwahab, Hussam Al Hennawi, Salem Elshenawy, Mai Saad Mohamed, Pensée Chébl, Mohamed Salem Madian, Mostafa Elsayed Elsayed Hewalla, Sarya Swed, Wael Hafez, Bisher Sawaf, Samer Kaspo, Naim Battikh, Mohammed Najdat Seijari, Amr Farwati, Amine Rakab

Abington Jefferson Health Papers

BACKGROUND: Techniques in endovascular therapy have evolved to offer a promising alternative to medical therapy alone for Type B aortic dissections (TBADs).

AIM: The aim of this meta-analysis was to compare mortality and overall complications between thoracic endovascular aortic repair (TEVAR) and best medical therapy (BMT) in patients with TBADs.

METHODS: We included randomized control trials and prospective or retrospective cohort studies that compared TEVAR and BMT for the treatment of type B aortic dissection. Multiple electronic databases were searched.

RESULTS: Thirty-two cohort studies including 150,836 patients were included. TEVAR was associated with a significantly lower 30-day mortality rate than …


Immunoactive Signatures Of Circulating Trna- And Rrna-Derived Rnas In Chronic Obstructive Pulmonary Disease, Megumi Shigematsu, Takuya Kawamura, Deepak Deshpande, Yohei Kirino Sep 2024

Immunoactive Signatures Of Circulating Trna- And Rrna-Derived Rnas In Chronic Obstructive Pulmonary Disease, Megumi Shigematsu, Takuya Kawamura, Deepak Deshpande, Yohei Kirino

Computational Medicine Center Faculty Papers

Chronic obstructive pulmonary disease (COPD) is the most prevalent lung disease, and macrophages play a central role in the inflammatory response in COPD. We here report a comprehensive characterization of circulating short non-coding RNAs (sncRNAs) in plasma from patients with COPD. While circulating sncRNAs are increasingly recognized for their regulatory roles and biomarker potential in various diseases, the conventional RNA sequencing (RNA-seq) method cannot fully capture these circulating sncRNAs due to their heterogeneous terminal structures. By pre-treating the plasma RNAs with T4 polynucleotide kinase, which converts all RNAs to those with RNA-seq susceptible ends (5′-phosphate and 3′-hydroxyl), we comprehensively sequenced …


Neuroinflammation And Brain Health Risks In Veterans Exposed To Burn Pit Toxins, Athena Brooks, Brian Sandri, Joshua Nixon, Timothy Nurkiewicz, Paul Barach, Janeen Trembley, Tammy Butterick Sep 2024

Neuroinflammation And Brain Health Risks In Veterans Exposed To Burn Pit Toxins, Athena Brooks, Brian Sandri, Joshua Nixon, Timothy Nurkiewicz, Paul Barach, Janeen Trembley, Tammy Butterick

College of Population Health Faculty Papers

Military burn pits, used for waste disposal in combat zones, involve the open-air burning of waste materials, including plastics, metals, chemicals, and medical waste. The pits release a complex mixture of occupational toxic substances, including particulate matter (PM), volatile organic compounds (VOCs), heavy metals, dioxins, and polycyclic aromatic hydrocarbons (PAHs). Air pollution significantly impacts brain health through mechanisms involving neuroinflammation. Pollutants penetrate the respiratory system, enter the bloodstream, and cross the blood-brain barrier (BBB), triggering inflammatory responses in the central nervous system (CNS). Chronic environmental exposures result in sustained inflammation, oxidative stress, and neuronal damage, contributing to neurodegenerative diseases and …


Novel Computed Tomography Angiography Parameter Is Associated With Low Cardiac Index In Patients With Chronic Thromboembolic Pulmonary Hypertension: A Retrospective Analysis, Estefania Oliveros, Michel Ibrahim, Carlos Manuel Romero, Paul Navo, Patricia Otero Valdes, Yevgeniy Brailovsky, Amir Darki, Riyaz Bashir, Anjali Vaidya, Paul Forfia, Chandra Dass Sep 2024

Novel Computed Tomography Angiography Parameter Is Associated With Low Cardiac Index In Patients With Chronic Thromboembolic Pulmonary Hypertension: A Retrospective Analysis, Estefania Oliveros, Michel Ibrahim, Carlos Manuel Romero, Paul Navo, Patricia Otero Valdes, Yevgeniy Brailovsky, Amir Darki, Riyaz Bashir, Anjali Vaidya, Paul Forfia, Chandra Dass

Division of Cardiology Faculty Papers

UNLABELLED: Chronic thromboembolic pulmonary hypertension (CTEPH) is a complication of incomplete resolution of acute pulmonary embolism. We hypothesize changes in CT Hounsfield Unit gradient (HU-Δ) created by the dispersion of IV contrast through the downstream blood pool correlate with cardiac index (CI). We sought to compare HU-Δ with invasively obtained CI.

METHODS: We completed a retrospective analysis of CTEPH patients in which individuals with low CI (<2.2-L/min/m2) were identified. Both absolute and fractional HU-Δ were derived from pulmonary CTA by subtracting the HU value of the left atrium (LA) and left ventricle (LV) from the main pulmonary artery …


Treatment Of Acute Myeloid Leukemia In The Community Setting, Taha Al-Juhaishi, Servillano Dela Cruz, Rohan Gupta, Gina Keiffer, Vicki Morrison, Iuliana Shapira, Ashley Woods, Kelly Norsworthy, Romeo Angelo De Claro, Marc Theoret, Ravin Garg, Elizabeth Dianne Pulte Sep 2024

Treatment Of Acute Myeloid Leukemia In The Community Setting, Taha Al-Juhaishi, Servillano Dela Cruz, Rohan Gupta, Gina Keiffer, Vicki Morrison, Iuliana Shapira, Ashley Woods, Kelly Norsworthy, Romeo Angelo De Claro, Marc Theoret, Ravin Garg, Elizabeth Dianne Pulte

Kimmel Cancer Center Faculty Papers

The treatment landscape for acute myeloid leukemia (AML) is rapidly changing. Many new agents and lower-intensity regimens have been approved and can be safely used by hematologists and oncologists in both academic and community settings. The US Food and Drug Administration (FDA) held a virtual symposium on AML treatment in the community in November 2022. Several members of the FDA, along with practicing hematologists and oncologists in both academic and community settings, participated in the symposium. The goal of the symposium was to discuss challenges and opportunities in the treatment of patients with AML in community oncology settings. A summary …


Chylopericardium And Superior Vena Cava Syndrome Caused By Central Venous Occlusion From Indwelling Hemodialysis Catheters, Daniel Underberg, Nicholas Demario, Sebastian Rodriguez, Khulkar Mirzozoda, Mark Decaro, Gregary Marhefka Sep 2024

Chylopericardium And Superior Vena Cava Syndrome Caused By Central Venous Occlusion From Indwelling Hemodialysis Catheters, Daniel Underberg, Nicholas Demario, Sebastian Rodriguez, Khulkar Mirzozoda, Mark Decaro, Gregary Marhefka

Division of Cardiology Faculty Papers

Chylopericardium is a rare condition. Causes include superior vena cava syndrome resulting from indwelling catheters. We present a case of this condition in a 42-year-old man with end-stage renal disease treated with hemodialysis through a right subclavian vein catheter. He underwent successful endovascular stenting with resolution of his symptoms and chylopericardium.


A Clinician’S Perspective On The New Organ Mesentery And Non-Vascular Mesenteropathies, Monjur Ahmed Sep 2024

A Clinician’S Perspective On The New Organ Mesentery And Non-Vascular Mesenteropathies, Monjur Ahmed

Division of Gastroenterology and Hepatology Faculty Papers

Mesentery was discovered as a new organ in 2017. It is a continuous membranous tissue from the duodenojejunal flexure to the anorectal junction. It has distinct anatomy, physiology, and disease states. Primary mesenteropathies include vascular and non-vascular diseases. Some of them are common, and some of them are rarely seen in clinical practice. Secondary mesenteropathies occur when infection or malignancy in another organ spreads to the mesentery. Each entity has specific diagnostic and treatment protocols. Increased awareness of different mesenteropathies and an understanding of their various presentations at different stages of life can help in early diagnosis and improved clinical …


Successful Treatment Of A Chronic Recurrent Expanding Hematoma Of The Thigh, Gianfranco Galantini, Bakhtawar Mushtaq, Jesse Ottaway, Charles Long Sep 2024

Successful Treatment Of A Chronic Recurrent Expanding Hematoma Of The Thigh, Gianfranco Galantini, Bakhtawar Mushtaq, Jesse Ottaway, Charles Long

Abington Jefferson Health Papers

Chronic expanding hematoma (CEH) is a rare entity that poses diagnostic and therapeutic challenges due to persistent growth, risk of recurrence, and potential for blood loss anemia. The most common etiologies of CEH are trauma or surgery. It is thought to occur due to irritant effects of blood breakdown products, causing bleeding from capillaries in chronic granulation tissue. Although treatment of CEH is variable, complete surgical excision of the hematoma and its pseudocapsule is the gold standard. We present a case of a 15-year CEH that was initially treated with limited evacuation of the hematoma and cavity decortication, resulting in …


Keratin 17 Is A Prognostic And Predictive Biomarker In Pancreatic Ductal Adenocarcinoma, Lyanne Delgado-Coka, Lucia Roa-Peña, Sruthi Babu, Michael Horowitz, Emanuel Petricoin, Lynn Matrisian, Edik Blais, Natalia Marchenko, Felicia Allard, Ali Akalin, Wei Jiang, Md, Phd, Brent Larson, Andrew Hendifar, Vincent Picozzi, Minsig Choi, Kenneth Shroyer, Luisa Escobar-Hoyos Sep 2024

Keratin 17 Is A Prognostic And Predictive Biomarker In Pancreatic Ductal Adenocarcinoma, Lyanne Delgado-Coka, Lucia Roa-Peña, Sruthi Babu, Michael Horowitz, Emanuel Petricoin, Lynn Matrisian, Edik Blais, Natalia Marchenko, Felicia Allard, Ali Akalin, Wei Jiang, Md, Phd, Brent Larson, Andrew Hendifar, Vincent Picozzi, Minsig Choi, Kenneth Shroyer, Luisa Escobar-Hoyos

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

OBJECTIVES: To determine the role of keratin 17 (K17) as a predictive biomarker for response to chemotherapy by defining thresholds of K17 expression based on immunohistochemical tests that could be used to optimize therapeutic intervention for patients with pancreatic ductal adenocarcinoma (PDAC).

METHODS: We profiled K17 expression, a hallmark of the basal molecular subtype of PDAC, by immunohistochemistry in 2 cohorts of formalin-fixed, paraffin-embedded PDACs (n = 305). We determined a K17 threshold of expression to optimize prognostic stratification according to the lowest Akaike information criterion and explored the potential relationship between K17 and chemoresistance by multivariate predictive analyses.

RESULTS: …


Residual Stroke Risk Among Patients With Atrial Fibrillation Prescribed Oral Anticoagulants: A Patient-Level Meta-Analysis From Combine Af, Linda Johnson, Alexander Benz, Ashkan Shoamanesh, John W Eikelboom, Michael Ezekowitz, Robert Giugliano, Lars Wallentin, Christian Ruff, Renato Lopes, Sanjit Jolly, Richard Whitlock, Christopher Granger, Stuart Connolly, Jeffrey Healey Sep 2024

Residual Stroke Risk Among Patients With Atrial Fibrillation Prescribed Oral Anticoagulants: A Patient-Level Meta-Analysis From Combine Af, Linda Johnson, Alexander Benz, Ashkan Shoamanesh, John W Eikelboom, Michael Ezekowitz, Robert Giugliano, Lars Wallentin, Christian Ruff, Renato Lopes, Sanjit Jolly, Richard Whitlock, Christopher Granger, Stuart Connolly, Jeffrey Healey

Division of Cardiology Faculty Papers

Background: Despite oral anticoagulation, patients with atrial fibrillation (AF) remain at risk of ischemic stroke and systemic embolism (SE) events. For patients whose residual risk is sufficiently high, additional therapies might be useful to mitigate stroke risk.

Methods and results: Individual patient data from 5 landmark trials testing oral anticoagulation in AF were pooled in A Collaboration Between Multiple Institutions to Better Investigate Non-Vitamin K Antagonist Oral Anticoagulant Use in AF (COMBINE AF). We calculated the rate of ischemic stroke/SE among oral anticoagulation-treated patients with a CHA2DS2-VASc score≥2, across strata of CHA2DS2-VASc …


Skin Necrosis Following Digital Wart Intralesional Injection Of Cantharidin, Sebastian Arango, Tristan Weir, Andrew Miller, Meredith Osterman Sep 2024

Skin Necrosis Following Digital Wart Intralesional Injection Of Cantharidin, Sebastian Arango, Tristan Weir, Andrew Miller, Meredith Osterman

Department of Orthopaedic Surgery Faculty Papers

A right-hand-dominant female presented 5 weeks following a right middle finger intralesional cantharidin injection for a common wart by a dermatologist. The patient experienced progressive stiffness, blistering, swelling, pain, and ultimately, full-thickness skin necrosis surrounding the injection site. Careful debridement followed by a full-thickness skin graft was performed with no evidence of involvement of the germinal matrix or terminal extensor tendon. At the 7-month postoperative mark, the patient’s graft exhibited favorable healing and improved functionality that did not require further follow-up. Intralesional injection of cantharidin solutions for digital warts leads to progressive skin necrosis. Our case required prompt debridement and …


Hereditary Spherocytosis Due To A Novel Variant, P.Q1034x, In The Beta Subunit Of The Spectrin Gene: A Case Report, Emmalee M. Kugler, Akash Patel, Faraz Afridi, Maria I. Scarano, Rafat Ahmed Sep 2024

Hereditary Spherocytosis Due To A Novel Variant, P.Q1034x, In The Beta Subunit Of The Spectrin Gene: A Case Report, Emmalee M. Kugler, Akash Patel, Faraz Afridi, Maria I. Scarano, Rafat Ahmed

Department of Emergency Medicine Faculty Papers

Background: Heterozygous pathogenic variants of SPTB cause hereditary spherocytosis (HS) in a quarter of cases. Case report: A 14-day-old male presenting with persistent anemia and hyperbilirubinemia was diagnosed with HS by increased red blood cell osmotic fragility and decreased fluorescence on the eosin-5′-maleimide binding test. For his failure to thrive and hypotonia, genetic sequencing revealed a de novo variant of the SPTB gene (p.Q1034X) on exon 15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. A variant of uncertain significance (p.R438W) in the chondroitin sulfate synthase 1 (CHSY1) gene …


Role Of Kindlin 2 In Prostate Cancer, Katarzyna Bialkowska, Lamyae El Khalki, Priyanka Rana, Wei Wang, Daniel Lindner, Yvonne Parker, Lucia Languino, Dario Altieri, Elzbieta Pluskota, Khalid Sossey-Alaoui, Edward Plow Aug 2024

Role Of Kindlin 2 In Prostate Cancer, Katarzyna Bialkowska, Lamyae El Khalki, Priyanka Rana, Wei Wang, Daniel Lindner, Yvonne Parker, Lucia Languino, Dario Altieri, Elzbieta Pluskota, Khalid Sossey-Alaoui, Edward Plow

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Kindlin-2 is a cytoskeletal adapter protein that is present in many different cell types. By virtue of its interaction with multiple binding partners, Kindlin-2 intercalates into numerous signaling pathways and cytoskeletal nodes. A specific interaction of Kindlin-2 that is of paramount importance in many cellular responses is its direct binding to the cytoplasmic tails of integrins, an interaction that controls many of the adhesive, migratory and signaling responses mediated by members of the integrin family of cell-surface heterodimers. Kindlin-2 is highly expressed in many cancers and is particularly prominent in prostate cancer cells. CRISPR/cas9 was used as a primary approach …


Endoscopic Transventricular "Inside-Out" Corpus Callosotomy: Illustrative Case, Michael Baumgartner, Elias Atallah, Kathleen Galligan, Pamela Mcdonnell, Benjamin Kennedy Aug 2024

Endoscopic Transventricular "Inside-Out" Corpus Callosotomy: Illustrative Case, Michael Baumgartner, Elias Atallah, Kathleen Galligan, Pamela Mcdonnell, Benjamin Kennedy

Department of Neurosurgery Faculty Papers

BACKGROUND: Tonic and atonic "drop attack" seizures are a classic and morbid semiology in Lennox-Gastaut syndrome, resulting in frequent injuries and emergency room visits, in addition to neurocognitive sequelae. Recent years have seen a growing interest in less invasive techniques for performing the classic surgical treatment for drop attacks in Lennox-Gastaut syndrome, that is, corpus callosotomy.

OBSERVATIONS: A 5-year-old boy with Lennox-Gastaut syndrome presented for surgical evaluation. He experienced up to 20 daily tonic seizures despite multiple antiseizure medications. Preoperative imaging revealed highly abnormal anatomy with severe ventriculomegaly and thinning of the cortex and corpus callosum. Open microsurgery or an …


Utilization Of A Novel Scoring System In Predicting 30-Day Mortality In Acute Pulmonary Embolism, The Clot-5 Pilot Study, Alexandru Marginean, Punit Arora, Kevin Walsh, Elizabeth Bruno, Cathryn Sawalski, Riya Gupta, Frances Greathouse, Jacob Clarke, Quinn Mallery, Myoung Hyun Choi, Waddah Malas, Parth Shah, David Sutherland, Amudha Kumar, Igor Wroblewski, Ahmed Elkaryoni, Parth Desai, Yevgeniy Brailovsky, Amir Darki Aug 2024

Utilization Of A Novel Scoring System In Predicting 30-Day Mortality In Acute Pulmonary Embolism, The Clot-5 Pilot Study, Alexandru Marginean, Punit Arora, Kevin Walsh, Elizabeth Bruno, Cathryn Sawalski, Riya Gupta, Frances Greathouse, Jacob Clarke, Quinn Mallery, Myoung Hyun Choi, Waddah Malas, Parth Shah, David Sutherland, Amudha Kumar, Igor Wroblewski, Ahmed Elkaryoni, Parth Desai, Yevgeniy Brailovsky, Amir Darki

Division of Cardiology Faculty Papers

OBJECTIVES: To construct a new scoring system utilizing biomarkers, vitals, and imaging data to predict 30-day mortality in acute pulmonary embolism (PE).

BACKGROUND: Acute PE, a well-known manifestation of venous thromboembolic disease, is responsible for over 100,000 deaths worldwide yearly. Contemporary management algorithms rely on a multidisciplinary approach to care via PE response teams (PERT) in the identification of low, intermediate, and high-risk patients. The PESI and sPESI scores have been used as cornerstones of the triage process in assigning risk of 30-day mortality for patients presenting with acute PE; however, the specificity of these scoring systems has often come …


Minocycline-Induced Retinal Pigment Epithelium Hyperpigmentation Masquerading As Age-Related Macular Degeneration: Case Presentation And Proposed Mechanism, Michael D. Yu, Nikhil Bommakanti, Yoshihiro Yonekawa, Jose S. Pulido Aug 2024

Minocycline-Induced Retinal Pigment Epithelium Hyperpigmentation Masquerading As Age-Related Macular Degeneration: Case Presentation And Proposed Mechanism, Michael D. Yu, Nikhil Bommakanti, Yoshihiro Yonekawa, Jose S. Pulido

Wills Eye Hospital Papers

PURPOSE: We describe the case of an 80-year-old man with bilateral minocycline-induced retinal pigment epithelium (RPE) hyperpigmentation, which initially masqueraded as AMD. Secondarily, using multimodal imaging features, we propose a mechanism for the development of minocycline-induced RPE hyperpigmentation.

OBSERVATIONS: The patient was referred with concern for AMD given the presence of macular drusenoid deposits on optical coherence tomography. However, funduscopic evaluation showed dense granular parafoveal hyperpigmentation, with a diffuse slate-colored hyperpigmentation throughout the peripheral fundus. Short-wavelength fundus autofluorescence of the macula disclosed no irregularities (as would be expected with drusen) while on near-infrared reflectance (NIR) imaging, numerous hyperreflective foci were …


Appropriateness Of Imaging For Low-Risk Prostate Cancer-Real World Data From The Pennsylvania Urologic Regional Collaboration (Purc), Raidizon Mercedes, Dennis Head, Elizabeth Zook, Eric Eidelman, Jeffrey Tomaszewski, Serge Ginzburg, Robert Uzzo, Marc Smaldone, John Danella, Thomas Guzzo, Daniel Lee, Laurence Belkoff, Jeffrey Walker, Adam Reese, Mihir Shah, Bruce Jacobs, Jay Raman Aug 2024

Appropriateness Of Imaging For Low-Risk Prostate Cancer-Real World Data From The Pennsylvania Urologic Regional Collaboration (Purc), Raidizon Mercedes, Dennis Head, Elizabeth Zook, Eric Eidelman, Jeffrey Tomaszewski, Serge Ginzburg, Robert Uzzo, Marc Smaldone, John Danella, Thomas Guzzo, Daniel Lee, Laurence Belkoff, Jeffrey Walker, Adam Reese, Mihir Shah, Bruce Jacobs, Jay Raman

Einstein Health Papers

Imaging for prostate cancer defines the extent of disease. Guidelines recommend against imaging low-risk prostate cancer patients with a computed tomography (CT) scan or bone scan due to the low probability of metastasis. We reviewed imaging performed for men diagnosed with low-risk prostate cancer across the Pennsylvania Urologic Regional Collaborative (PURC), a physician-led data sharing and quality improvement collaborative. The data of 10 practices were queried regarding the imaging performed in men diagnosed with prostate cancer from 2015 to 2022. The cohort included 13,122 patients with 3502 (27%) low-risk, 2364 (18%) favorable intermediate-risk, 3585 (27%) unfavorable intermediate-risk, and 3671 (28%) …


Bp1003 Decreases Stat3 Expression And Its Pro-Tumorigenic Functions In Solid Tumors And The Tumor Microenvironment, Maria Gagliardi, Rhonda Kean, Bingbing Dai, Jithesh Augustine, Michael Roberts, Jason Fleming, D. Craig Hooper, Ana Ashizawa Aug 2024

Bp1003 Decreases Stat3 Expression And Its Pro-Tumorigenic Functions In Solid Tumors And The Tumor Microenvironment, Maria Gagliardi, Rhonda Kean, Bingbing Dai, Jithesh Augustine, Michael Roberts, Jason Fleming, D. Craig Hooper, Ana Ashizawa

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Overexpression and aberrant activation of signal transducer and activator of transcription 3 (STAT3) contribute to tumorigenesis, drug resistance, and tumor-immune evasion, making it a potential cancer therapeutic target. BP1003 is a neutral liposome incorporated with a nuclease-resistant P-ethoxy antisense oligodeoxynucleotide (ASO) targeting the STAT3 mRNA. Its unique design enhances BP1003 stability, cellular uptake, and target affinity. BP1003 efficiently reduces STAT3 expression and enhances the sensitivity of breast cancer cells (HER2+, triple negative) and ovarian cancer cells (late stage, invasive ovarian cancer) to paclitaxel and 5-fluorouracil (5-FU) in both 2D and 3D cell cultures. Similarly, ex vivo and in …


Challenges In Traumatic Spinal Cord Injury Care In Developing Countries - A Scoping Review, Mohammad Hosein Ranjbar Hameghavandi, Elaheh Khodadoust, Mahgol Sadat Hassan Zadeh Tabatabaei, Farzin Farahbakhsh, Zahra Ghodsi, Sabra Rostamkhani, Shahryar Ghashghaie, Mahkame Abbaszade, Arash Arbabi, Seyedeh Maede Hossieni, Mohsen Sadeghi-Naini, Rasha Atlasi, Samuel Berchi Kankam, Alexander Vaccaro, James Guest, Michael Fehlings, Vafa Rahimi-Movaghar Aug 2024

Challenges In Traumatic Spinal Cord Injury Care In Developing Countries - A Scoping Review, Mohammad Hosein Ranjbar Hameghavandi, Elaheh Khodadoust, Mahgol Sadat Hassan Zadeh Tabatabaei, Farzin Farahbakhsh, Zahra Ghodsi, Sabra Rostamkhani, Shahryar Ghashghaie, Mahkame Abbaszade, Arash Arbabi, Seyedeh Maede Hossieni, Mohsen Sadeghi-Naini, Rasha Atlasi, Samuel Berchi Kankam, Alexander Vaccaro, James Guest, Michael Fehlings, Vafa Rahimi-Movaghar

Department of Neurosurgery Faculty Papers

OBJECTIVE: To evaluate the leading challenges in developing countries' traumatic spinal cord injury (TSCI) care.

METHODS: We conducted a systematic search in electronic databases of PubMed, SCOPUS, Web of Science, EMBASE, and Cochrane Library on 16 April 2023. Studies that investigated challenges associated with the management of TSCI in developing countries were eligible for review. We extracted related outcomes and categorized them into four distinct parts: injury prevention, pre-hospital care, in-hospital care, and post-hospital care.

RESULTS: We identified 82 articles that met the eligibility criteria including 13 studies on injury prevention, 25 on pre-hospital care, 32 on in-hospital care, and …


Immunoregulatory Properties Of Immune Cells That Associate With The Lens Capsule Surface During Acute And Resolution Phases Of Experimental Autoimmune Uveitis, Phuong M. Le, Mary J. Mattapallil, Rachel R. Caspi, Mary Ann Stepp, A. Sue Menko Aug 2024

Immunoregulatory Properties Of Immune Cells That Associate With The Lens Capsule Surface During Acute And Resolution Phases Of Experimental Autoimmune Uveitis, Phuong M. Le, Mary J. Mattapallil, Rachel R. Caspi, Mary Ann Stepp, A. Sue Menko

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Inflammation in the eye is tightly regulated to prevent vision impairment and irreversible blindness. Emerging evidence shows that immune cells are specifically recruited to the lens capsule in response to autoimmune uveitis, yet the potential that they have a role in regulating this inflammatory disease remained unexplored. Here, an immunolocalization approach combined with high-resolution confocal microscopy was used to investigate whether the immune cells that become stably associated with the lens capsule in the eyes of C57BL/6J mice with experimental autoimmune uveitis (EAU) have an immunoregulatory phenotype. These studies revealed that during the acute phase of uveitis, at day 18 …


Prospective Analysis Of Stratafix™ Symmetric Pds Plus Suture For Fascial Closure In Spinal Surgery: A Pilot Study, Steven R. Glener, Pious D. Patel, Stephanie N. Serva, Dwight Mitchell Self, Joshua E. Heller Aug 2024

Prospective Analysis Of Stratafix™ Symmetric Pds Plus Suture For Fascial Closure In Spinal Surgery: A Pilot Study, Steven R. Glener, Pious D. Patel, Stephanie N. Serva, Dwight Mitchell Self, Joshua E. Heller

Department of Neurosurgery Faculty Papers

Wound closure is an integral part of every spinal procedure. Effective and secure wound closure is paramount in the prevention of infection, wound dehiscence and the preservation of cosmesis. Barbed suture technologies such as STRATAFIX™ Symmetric have been studied and are used in a variety of specialties, including obstetrics and orthopedic surgery, but is underutilized in neurosurgery. This study aims to assess the time and rate of closure using STRATAFIX™ Symmetric technology for fascial closure and compare this method to the more traditionally used method of fascial closure using braided absorbable sutures below the epidermis. 20 patients were recruited for …


Recurrent Inflammatory Myofibroblastic Tumor Of Larynx Harboring A Novel Thbs1::Alk Fusion, Namra Ajmal, Stacey Gargano, Ujwala Gosavi, Madalina Tuluc Aug 2024

Recurrent Inflammatory Myofibroblastic Tumor Of Larynx Harboring A Novel Thbs1::Alk Fusion, Namra Ajmal, Stacey Gargano, Ujwala Gosavi, Madalina Tuluc

Computational Medicine Center Faculty Papers

Inflammatory myofibroblastic tumor (IMT) is a rare soft tissue tumor primarily occurring in the abdominopelvic region of young patients, and it is characterized by spindle-shaped myofibroblasts, or fibroblasts surrounded by inflammatory infiltrate. Herein, we report a case of a 24-year-old male with a firm submucosal mass in the anterior right vocal fold diagnosed as an IMT that recurred 14 months later. The tumor demonstrated a novel THBS1::ALK fusion containing Exons 1-7 of the thrombospondin 1 (THBS1) gene fused to Exon 19 of the anaplastic lymphoma kinase (ALK) gene via next-generation sequencing with the NextSeq sequencer. The fusion of THBS1 to …


Absence Of Motor Impairments Or Pathological Changes In Tmem230 Knockout Rats, Wenjuan Zhang, Hao Peng, Daihe Yang, Guohua Song, Juan He, Yun Zhou, Cao Huang, Bo Huang Aug 2024

Absence Of Motor Impairments Or Pathological Changes In Tmem230 Knockout Rats, Wenjuan Zhang, Hao Peng, Daihe Yang, Guohua Song, Juan He, Yun Zhou, Cao Huang, Bo Huang

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Parkinson's disease (PD), which is the second most common neurodegenerative disorder, is characterized by progressive movement impairment and loss of midbrain dopaminergic neurons in the substantia nigra. Although mutations in TMEM230 are linked to familial PD, the pathogenic mechanism underlying TMEM230-associated PD remains to be elucidated. To explore the effect of TMEM230 depletion in vivo, we created TMEM230 knockout rats using CRISPR-Cas9 technology. TMEM230 knockout rats did not exhibit any core features of PD, including impaired motor function, loss of dopaminergic neurons in the substantia nigra, or altered expression of proteins related to autophagy, the Rab family, or vesicular trafficking. …


Enpp1 Enzyme Replacement Therapy Improves Ectopic Calcification But Does Not Rescue Skeletal Phenotype In A Mouse Model For Craniometaphyseal Dysplasia, Ernst Reichenberger, Kevin O'Brien, Ayano Hatori, Thomas Carpenter, Koen Van De Wetering, Lisa Flaman, Jennifer Howe, Daniel Ortiz, Yves Sabbagh, I-Ping Chen Aug 2024

Enpp1 Enzyme Replacement Therapy Improves Ectopic Calcification But Does Not Rescue Skeletal Phenotype In A Mouse Model For Craniometaphyseal Dysplasia, Ernst Reichenberger, Kevin O'Brien, Ayano Hatori, Thomas Carpenter, Koen Van De Wetering, Lisa Flaman, Jennifer Howe, Daniel Ortiz, Yves Sabbagh, I-Ping Chen

Jefferson Institute of Molecular Medicine Papers and Presentations

Craniometaphyseal dysplasia (CMD) is a rare genetic bone disorder, characterized by progressive thickening of craniofacial bones and flared metaphyses of long bones. Craniofacial hyperostosis leads to the obstruction of neural foramina and neurological symptoms such as facial palsy, blindness, deafness, or severe headache. Mutations in ANKH (mouse ortholog ANK), a transporter of small molecules such as citrate and ATP, are responsible for autosomal dominant CMD. Knock-in (KI) mice carrying an ANKF377del mutation (AnkKI/KI) replicate many features of human CMD. Pyrophosphate (PPi) levels in plasma are significantly reduced in AnkKI/KI mice. PPi is a potent inhibitor of …


Sedation For Gi Endoscopy In The Morbidly Obese: Challenges And Possible Solutions, Lalitha Sundararaman, Basavana Goudra Aug 2024

Sedation For Gi Endoscopy In The Morbidly Obese: Challenges And Possible Solutions, Lalitha Sundararaman, Basavana Goudra

Department of Anesthesiology Faculty Papers

With the increasing prevalence of obesity and morbid obesity, this subgroup's contribution to patients presenting for elective procedures requiring sedation is significant. Gastrointestinal (GI) procedures clearly form the largest group of such procedures. These procedures may be intended to treat obesity such as the insertion of an intragastric balloon or one or more unrelated procedures such as a screening colonoscopy and (or) diagnostic/therapeutic endoscopy. Regardless of the procedure, these patients pose significant challenges in terms of choice of sedatives, dosing, airway management, ventilation, and oxygenation. An understanding of dissimilarity in the handling of different groups of medications used by an …