Open Access. Powered by Scholars. Published by Universities.®

Medical Specialties Commons™

Open Access. Powered by Scholars. Published by Universities.®

2024

Discipline
Institution
Keyword
Publication
Publication Type
File Type

Articles 2641 - 2670 of 9449

Full-Text Articles in Medical Specialties

Consensus Of National Heart Center And The Saudi Arabian Cardiac Interventional Society On The Current Landscape Of The Management Of Intracoronary Calcification In Saudi Arabia, Khaled Al-Shaibi, Mirvat Alasnag, Owayed Alshemmari, Ayman Alsaleh, Wail Alkashkari, Fawaz Almutairi, Nouf Alanazi, Mognee Alameer, Adel Tash Aug 2024

Consensus Of National Heart Center And The Saudi Arabian Cardiac Interventional Society On The Current Landscape Of The Management Of Intracoronary Calcification In Saudi Arabia, Khaled Al-Shaibi, Mirvat Alasnag, Owayed Alshemmari, Ayman Alsaleh, Wail Alkashkari, Fawaz Almutairi, Nouf Alanazi, Mognee Alameer, Adel Tash

Journal of the Saudi Heart Association

Objectives

We aimed to develop a streamlined algorithm for the management of intracoronary calcification that includes guidance on intracoronary imaging and the appropriate selection of atherectomy devices.

Methods

National experts representing both the National Heart Center (NHC) and the Saudi Arabian Cardiac Interventional Society (SACIS) met to develop a consensus document on the assessment and management of intracoronary calcification in Saudi Arabia. The nominal group technique was utilized; a number of statements on the assessment and management of coronary artery calcification were developed based on a systematic review of the literature. Th authors discussed the developed statements until a consensus …


Cefiderocol Heteroresistance Associated With Mutations In Tonb-Dependent Receptor Genes In Pseudomonas Aeruginosa Of Clinical Origin, Stephanie L Egge, Samie A Rizvi, Shelby R Simar, Manuel Alcalde, Jose R W Martinez, Blake M Hanson, An Q Dinh, Rodrigo P Baptista, Truc T Tran, Samuel A Shelburne, Jose M Munita, Cesar A Arias, Morgan Hakki, William R Miller Aug 2024

Cefiderocol Heteroresistance Associated With Mutations In Tonb-Dependent Receptor Genes In Pseudomonas Aeruginosa Of Clinical Origin, Stephanie L Egge, Samie A Rizvi, Shelby R Simar, Manuel Alcalde, Jose R W Martinez, Blake M Hanson, An Q Dinh, Rodrigo P Baptista, Truc T Tran, Samuel A Shelburne, Jose M Munita, Cesar A Arias, Morgan Hakki, William R Miller

Faculty, Staff and Student Publications

The siderophore-cephalosporin cefiderocol (FDC) presents a promising treatment option for carbapenem-resistant (CR) P. aeruginosa (PA). FDC circumvents traditional porin and efflux-mediated resistance by utilizing TonB-dependent receptors (TBDRs) to access the periplasmic space. Emerging FDC resistance has been associated with loss of function mutations within TBDR genes or the regulatory genes controlling TBDR expression. Further, difficulties with antimicrobial susceptibility testing (AST) and unexpected negative clinical treatment outcomes have prompted concerns for heteroresistance, where a single lineage isolate contains resistant subpopulations not detectable by standard AST. This study aimed to evaluate the prevalence of TBDR mutations among clinical isolates of P. aeruginosa …


Clinical Implementation Of Tissue-Sparing Posterior Cervical Fusion: Addressing Market Access Challenges, Morgan Lorio, Pierce Nunley, Joshua Heller, Bruce Mccormack, Kai-Uwe Lewandrowski, Jon Block Aug 2024

Clinical Implementation Of Tissue-Sparing Posterior Cervical Fusion: Addressing Market Access Challenges, Morgan Lorio, Pierce Nunley, Joshua Heller, Bruce Mccormack, Kai-Uwe Lewandrowski, Jon Block

Department of Neurosurgery Faculty Papers

Background: The traditional open midline posterior cervical spine fusion procedure has several shortcomings. It can cause soft tissue damage, muscle atrophy, compromise of the lateral masses and painful prominent posterior cervical instrumentation or spinous process if there is dehiscence of the fascia. Additionally, patients frequently experience the rapid development of adjacent segment disease, which can result in the reemergence of debilitating pain and functional impairment. Clinical relevance: Tissue-sparing posterior cervical fusion is an alternative method for treating patients with symptomatic cervical degenerative disc disease. However, widespread clinical adoption has been challenged by ambiguity, misunderstandings and misinterpretations regarding appropriate procedural reimbursement …


Video And Phone Visit Use Differed By Language Preference Among Us Latino And Chinese Adults During The First 9 Months Of The Covid-19 Pandemic: A Cross-Sectional Electronic Health Record Study, Nancy P Gordon, Teresa Y Lin, Antonia Torreblanca, Mary E Reed Aug 2024

Video And Phone Visit Use Differed By Language Preference Among Us Latino And Chinese Adults During The First 9 Months Of The Covid-19 Pandemic: A Cross-Sectional Electronic Health Record Study, Nancy P Gordon, Teresa Y Lin, Antonia Torreblanca, Mary E Reed

Faculty, Staff and Student Publications

BACKGROUND: During the first nine months of the COVID-19 emergency, patients were encouraged to use virtual versus clinic visits if in-person care was not deemed necessary by clinical staff. This study examined the association of spoken language preference and ethnicity with use of video versus phone virtual visits by US Latino and Chinese adult patients who got care in the same healthcare system.

METHODS: We analyzed electronic health record data for four groups of adults aged 26-85y who had ≥ 1 primary or specialty care outpatient clinician visits during April-December 2020: 80,869 Latino adults preferring Spanish (LEP Latino); 214,765 Latino …


Pathophysiology In Brain Arteriovenous Malformations: Focus On Endothelial Dysfunctions And Endothelial-To-Mesenchymal Transition, Jae Yeong Jeong, Adrian E Bafor, Bridger H Freeman, Peng R Chen, Eun S Park, Eunhee Kim Aug 2024

Pathophysiology In Brain Arteriovenous Malformations: Focus On Endothelial Dysfunctions And Endothelial-To-Mesenchymal Transition, Jae Yeong Jeong, Adrian E Bafor, Bridger H Freeman, Peng R Chen, Eun S Park, Eunhee Kim

Faculty, Staff and Student Publications

Brain arteriovenous malformations (bAVMs) substantially increase the risk for intracerebral hemorrhage (ICH), which is associated with significant morbidity and mortality. However, the treatment options for bAVMs are severely limited, primarily relying on invasive methods that carry their own risks for intraoperative hemorrhage or even death. Currently, there are no pharmaceutical agents shown to treat this condition, primarily due to a poor understanding of bAVM pathophysiology. For the last decade, bAVM research has made significant advances, including the identification of novel genetic mutations and relevant signaling in bAVM development. However, bAVM pathophysiology is still largely unclear. Further investigation is required to …


The Michigan Procedure: Mass Extraction From The Heart Facilitated By Onocor Global Embolic Protection Device, Hussam Al Hennawi, Shaurya Srivastava, Ahmad Abulshamat, Mohammed Qintar Aug 2024

The Michigan Procedure: Mass Extraction From The Heart Facilitated By Onocor Global Embolic Protection Device, Hussam Al Hennawi, Shaurya Srivastava, Ahmad Abulshamat, Mohammed Qintar

Abington Jefferson Health Papers

Intracardiac masses present a challenging diagnostic and therapeutic dilemma and are associated with an increased risk of complications, such as embolic events and obstructive symptoms. We report a novel procedure using an ŌNŌCOR device through subclavian access that acted as a full-body protection device as well as a retrieval device.


Bispecific Antibodies And Autologous Chimeric Antigen Receptor T Cell Therapies For Treatment Of Hematological Malignancies, Samer Al Hadidi, Helen E Heslop, Malcolm K Brenner, Masataka Suzuki Aug 2024

Bispecific Antibodies And Autologous Chimeric Antigen Receptor T Cell Therapies For Treatment Of Hematological Malignancies, Samer Al Hadidi, Helen E Heslop, Malcolm K Brenner, Masataka Suzuki

Faculty, Staff and Students Publications

In recent years, the therapeutic landscape for hematological malignancies has markedly advanced, particularly since the inaugural approval of autologous chimeric antigen receptor T cell (CAR-T) therapy in 2017 for relapsed/refractory acute lymphoblastic leukemia (ALL). Autologous CAR-T therapy involves the genetic modification of a patient's T cells to specifically identify and attack cancer cells, while bispecific antibodies (BsAbs) function by binding to both cancer cells and immune cells simultaneously, thereby triggering an immune response against the tumor. The subsequent approval of various CAR-T therapies and BsAbs have revolutionized the treatment of multiple hematological malignancies, highlighting high response rates and a subset …


A Machine Learning Model For Risk Stratification Of Postdiagnosis Diabetic Ketoacidosis Hospitalization In Pediatric Type 1 Diabetes: Retrospective Study, Devika Subramanian, Rona Sonabend, Ila Singh Aug 2024

A Machine Learning Model For Risk Stratification Of Postdiagnosis Diabetic Ketoacidosis Hospitalization In Pediatric Type 1 Diabetes: Retrospective Study, Devika Subramanian, Rona Sonabend, Ila Singh

Faculty, Staff and Students Publications

BACKGROUND: Diabetic ketoacidosis (DKA) is the leading cause of morbidity and mortality in pediatric type 1 diabetes (T1D), occurring in approximately 20% of patients, with an economic cost of $5.1 billion/year in the United States. Despite multiple risk factors for postdiagnosis DKA, there is still a need for explainable, clinic-ready models that accurately predict DKA hospitalization in established patients with pediatric T1D.

OBJECTIVE: We aimed to develop an interpretable machine learning model to predict the risk of postdiagnosis DKA hospitalization in children with T1D using routinely collected time-series of electronic health record (EHR) data.

METHODS: We conducted a retrospective case-control …


Correction: Multilocus Pathogenic Variants Contribute To Intrafamilial Clinical Heterogeneity: A Retrospective Study Of Sibling Pairs With Neurodevelopmental Disorders, Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, Ugur Sezerman, Jennifer E Posey, James R Lupski, Zeynep Coban-Akdemir Aug 2024

Correction: Multilocus Pathogenic Variants Contribute To Intrafamilial Clinical Heterogeneity: A Retrospective Study Of Sibling Pairs With Neurodevelopmental Disorders, Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, Ugur Sezerman, Jennifer E Posey, James R Lupski, Zeynep Coban-Akdemir

Faculty, Staff and Students Publications

No abstract provided.


The Efficacy Of Common Prosthetic Joint Infection Prevention Strategies: A Systematic Review, Cameron Jennings Aug 2024

The Efficacy Of Common Prosthetic Joint Infection Prevention Strategies: A Systematic Review, Cameron Jennings

Theses and Graduate Projects

Thousands of total hip and knee arthroplasty patients suffer from prosthetic joint infections every year, making them a leading cause of arthroplasty failure. As the number of these procedures continues to grow, so will the healthcare and socio-economic burden of prosthetic joint infections. A comprehensive search for up-to-date literature was completed via the PubMed database, identifying eighteen retrospective and prospective cohort studies that focused on the four prosthetic joint infection prevention methods of interest. Tobacco use cessation of all forms is an efficacious prosthetic joint infection prevention strategy. The common practices of withholding intra-articular injections prior to surgery, using prophylactic …


Retrospective Dosimetric Comparison Of Radiation Therapy Treatment Using Hybrid-Vmat Technique For Esophageal Cancer, Colleen Cozzie Aug 2024

Retrospective Dosimetric Comparison Of Radiation Therapy Treatment Using Hybrid-Vmat Technique For Esophageal Cancer, Colleen Cozzie

Masters Projects

Abstract

Introduction

Esophageal cancer is the fifth most common gastrointestinal cancer in the United States. As oncology treatment includes radiation as a standard of care, it is vital to examine effective treatment delivery options. Understanding the dosimetric differences between VMAT and hybrid-VMAT can help providers choose the most appropriate care plan for patients undergoing esophageal irradiation. The purpose of this study was to evaluate if VMAT or hybrid-VMAT delivery would be the superior planning method for patients with planning target volumes greater than ten centimeters. Adequately covering the tumor volume while sparing dose to adjacent critical structures is the goal …


Fragility Analysis And Systematic Review Of Patellar Resurfacing Versus Non-Patellar Resurfacing In Total Knee Arthroplasty, Teja Polisetty, Alexandra L. Hohmann, Eric Didomenico, Jess H. Lonner Aug 2024

Fragility Analysis And Systematic Review Of Patellar Resurfacing Versus Non-Patellar Resurfacing In Total Knee Arthroplasty, Teja Polisetty, Alexandra L. Hohmann, Eric Didomenico, Jess H. Lonner

Rothman Institute Papers

INTRODUCTION: Fragility analysis is a method of further characterising the robustness of statistical outcomes. This study evaluates the statistical fragility of randomised controlled trials (RCTs) comparing patellar resurfacing versus non-patellar surfacing in total knee arthroplasty (TKA).

METHODS: PubMed, MEDLINE and EMBASE were searched for RCTs comparing outcomes in TKA based on patellar resurfacing. Fragility index (FI) and reverse FI (collectively, "FI") were calculated for dichotomous outcomes as the number of outcome reversals needed to change statistical significance. Fragility quotient (FQ) was calculated by dividing the FI by the sample size for that outcome. Median FI and FQ were calculated for …


Comparative Plan Analysis: Helical Tomotherapy Vs. Linac Vmat For Lower Extremity Sarcomas, Marie E. Dibona Aug 2024

Comparative Plan Analysis: Helical Tomotherapy Vs. Linac Vmat For Lower Extremity Sarcomas, Marie E. Dibona

Masters Projects

Abstract

Introduction

Soft tissue sarcomas (STS) affect about 13,500 people annually in the United States, and those in the lower extremities present unique challenges in radiation therapy due to the wide variability in tumor sizes, sometimes exceeding 30cm. Traditional treatment involves C-Arm linear accelerators using Volumetric Modulated Radiation Therapy (VMAT), which provides precise targeting while sparing nearby organs. Helical Tomotherapy (HT) is another option, delivering radiation in a helical pattern with a binary MLC for a uniform dose distribution. However, no studies have compared VMAT and HT for lower extremity sarcomas of different sizes. This study aims to compare these …


Comparing Cadaveric And 3d-Printed Laryngeal Models In Transcutaneous Injection Laryngoplasty, Megha Chandna, Sana Siddiqui, Dylan Bertoni, Marah Sakkal, Sara Belko, Maurits Boon, Joseph Spiegel Aug 2024

Comparing Cadaveric And 3d-Printed Laryngeal Models In Transcutaneous Injection Laryngoplasty, Megha Chandna, Sana Siddiqui, Dylan Bertoni, Marah Sakkal, Sara Belko, Maurits Boon, Joseph Spiegel

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

BACKGROUND: There is increasing focus on the development of high-quality simulation models for medical education. Cadaveric models, although considered more realistic, may be difficult to obtain and costly. The advent of three-dimensional (3D) printing has offered a low-cost, reliable, and reproducible alternative. This study sought to compare the utility of 3D-printed to cadaveric models for training in transcutaneous injection laryngoplasty (TIL).

METHODS: A simulation course with a cross-over design was employed. Video laryngoscopes were utilized for both the 3D and cadaveric models to assess the accuracy of injection into the vocal fold. Pre-procedure and post-procedure surveys were administered to evaluate …


A Systematic Review Of Diabetic Foot Infections: Pathogenesis, Diagnosis, And Management Strategies, Sabyasachi Maity, Noah Leton, Narendra Nayak, Ameet Jha, Nikhilesh Anand, Kamala Thompson, Danielle Boothe, Alexandra Cromer, Yaliana Garcia, Aliyah Al-Islam Aug 2024

A Systematic Review Of Diabetic Foot Infections: Pathogenesis, Diagnosis, And Management Strategies, Sabyasachi Maity, Noah Leton, Narendra Nayak, Ameet Jha, Nikhilesh Anand, Kamala Thompson, Danielle Boothe, Alexandra Cromer, Yaliana Garcia, Aliyah Al-Islam

School of Medicine Publications

Background: Diabetic foot infection represents a significant complication of diabetes mellitus, contributing substantially to morbidity, mortality, and healthcare expenditure worldwide. Accurate diagnosis relies on a comprehensive assessment integrating clinical evaluation, imaging studies, and microbiological analysis. Management necessitates a multidisciplinary approach, encompassing surgical intervention, antimicrobial therapy, and advanced wound care strategies. Preventive measures are paramount in reducing the incidence and severity, emphasizing patient education, regular foot screenings, and early intervention.

Methods: The researchers performed a systematic review of literature using PUBMED MESH keywords. Additionally, the study was registered in the International Prospective Register of Systematic Reviews at the Center for Reviews …


Enhancing Clinical Relevance Of Pretrained Language Models Through Integration Of External Knowledge: Case Study On Cardiovascular Diagnosis From Electronic Health Records, Qiuhao Lu, Andrew Wen, Thien Nguyen, Hongfang Liu Aug 2024

Enhancing Clinical Relevance Of Pretrained Language Models Through Integration Of External Knowledge: Case Study On Cardiovascular Diagnosis From Electronic Health Records, Qiuhao Lu, Andrew Wen, Thien Nguyen, Hongfang Liu

Faculty, Staff and Student Publications

Background: Despite their growing use in health care, pretrained language models (PLMs) often lack clinical relevance due to insufficient domain expertise and poor interpretability. A key strategy to overcome these challenges is integrating external knowledge into PLMs, enhancing their adaptability and clinical usefulness. Current biomedical knowledge graphs like UMLS (Unified Medical Language System), SNOMED CT (Systematized Medical Nomenclature for Medicine-Clinical Terminology), and HPO (Human Phenotype Ontology), while comprehensive, fail to effectively connect general biomedical knowledge with physician insights. There is an equally important need for a model that integrates diverse knowledge in a way that is both unified and compartmentalized. …


Effects Of E-Cigarettes On The Lung And Systemic Metabolome In People With Hiv, Aline Zaparte, Courtney J. Christopher, Connie Arnold, Lauren Richey, Adairre Castille, Kyle Mistretta, Christopher M. Taylor, Huiyi Lin, Steve Nelson, John P. Kirwan, John W. Apolzan, Shawn R. Campagna, David A. Welsh Aug 2024

Effects Of E-Cigarettes On The Lung And Systemic Metabolome In People With Hiv, Aline Zaparte, Courtney J. Christopher, Connie Arnold, Lauren Richey, Adairre Castille, Kyle Mistretta, Christopher M. Taylor, Huiyi Lin, Steve Nelson, John P. Kirwan, John W. Apolzan, Shawn R. Campagna, David A. Welsh

School of Medicine Faculty Publications

The popularity of e-cigarettes (vaping) has soared, creating a public health crisis among teens and young adults. Chronic vaping can induce gut inflammation and reduce intestinal barrier function through the production of the proinflammatory molecule hydrogen sulfide (H2S). This is particularly concerning for people with HIV (PWH) as they already face impaired immune function and are at a higher risk for metabolic dysregulation, diabetes, and chronic liver disease. Furthermore, PWH experience unhealthy behaviors, making it crucial to understand the systemic metabolic dysregulation and pathophysiological mechanisms associated with vaping in this population. Here, we employed liquid chromatography–mass spectrometry (LC-MS)-based metabolomics to …


Severe Polyarticular Gout Flare Inducing Diabetic Ketoacidosis: A Case Report, John Rovig, Jose Lazarte Loayza, Sana Gurz, Jessica Chung, Winn Chatham Aug 2024

Severe Polyarticular Gout Flare Inducing Diabetic Ketoacidosis: A Case Report, John Rovig, Jose Lazarte Loayza, Sana Gurz, Jessica Chung, Winn Chatham

School of Medicine Faculty Research

Diabetic ketoacidosis (DKA) is a serious condition that is triggered by multiple stressors, including processes linked to inflammation. Gout is an inflammatory process that has not been directly linked to DKA, but it affects similar pathways, affecting glycemic control. This case illustrates the link between DKA and gout flares with emphasis on the nuanced management of gout in the setting of DKA.


Can Simultaneous Integrated Boost Provide Better Dosimetric Coverage Compared To Sequential Boost In Prone Breast Treatment Of Large Breast Volumes?, Kinze Kraft Aug 2024

Can Simultaneous Integrated Boost Provide Better Dosimetric Coverage Compared To Sequential Boost In Prone Breast Treatment Of Large Breast Volumes?, Kinze Kraft

Masters Projects

Introduction: This study investigates the dosimetric differences between sequential boost (SeB) and simultaneous integrated boost (SIB) techniques in prone breast radiotherapy for patients with large breast volumes, utilizing a 3D-CRT planning technique. Prone positioning in radiotherapy has shown to be effective in reducing heart and lung doses, yet limited research exists to compare overall plan quality between SeB and SIB using this technique. This analysis aims to evaluate whether SIB provides better dosimetric coverage and reduced dose to organs at risk (OARs) compared to SeB in prone breast radiotherapy.

Methods: A retrospective analysis was conducted on data from ten patients …


Pkd1 Mutant Clones Within Cirrhotic Livers Inhibit Steatohepatitis Without Promoting Cancer, Min Zhu, Yunguan Wang, Tianshi Lu, Jason Guo, Lin Li, Meng-Hsiung Hsieh, Purva Gopal, Yi Han, Naoto Fujiwara, Darren P Wallace, Alan S L Yu, Xiangyi Fang, Crystal Ransom, Sara Verschleisser, David Hsiehchen, Yujin Hoshida, Amit G Singal, Adam Yopp, Tao Wang, Hao Zhu Aug 2024

Pkd1 Mutant Clones Within Cirrhotic Livers Inhibit Steatohepatitis Without Promoting Cancer, Min Zhu, Yunguan Wang, Tianshi Lu, Jason Guo, Lin Li, Meng-Hsiung Hsieh, Purva Gopal, Yi Han, Naoto Fujiwara, Darren P Wallace, Alan S L Yu, Xiangyi Fang, Crystal Ransom, Sara Verschleisser, David Hsiehchen, Yujin Hoshida, Amit G Singal, Adam Yopp, Tao Wang, Hao Zhu

Faculty, Staff and Student Publications

Somatic mutations in non-malignant tissues are selected for because they confer increased clonal fitness. However, it is uncertain whether these clones can benefit organ health. Here, ultra-deep targeted sequencing of 150 liver samples from 30 chronic liver disease patients revealed recurrent somatic mutations. PKD1 mutations were observed in 30% of patients, whereas they were only detected in 1.3% of hepatocellular carcinomas (HCCs). To interrogate tumor suppressor functionality, we perturbed PKD1 in two HCC cell lines and six in vivo models, in some cases showing that PKD1 loss protected against HCC, but in most cases showing no impact. However, Pkd1 haploinsufficiency …


Identification And Characterization Of A Skin Microbiome On Caenorhabditis Elegans Suggests Environmental Microbes Confer Cuticle Protection, Nadia B Haghani, Robert H Lampe, Buck S Samuel, Sreekanth H Chalasani, Molly A Matty Aug 2024

Identification And Characterization Of A Skin Microbiome On Caenorhabditis Elegans Suggests Environmental Microbes Confer Cuticle Protection, Nadia B Haghani, Robert H Lampe, Buck S Samuel, Sreekanth H Chalasani, Molly A Matty

Faculty, Staff and Students Publications

In the wild, C. elegans are emersed in environments teeming with a veritable menagerie of microorganisms. The C. elegans cuticular surface serves as a barrier and first point of contact with their microbial environments. In this study, we identify microbes from C. elegans natural habitats that associate with its cuticle, constituting a simple “skin microbiome.” We rear our animals on a modified CeMbio, mCeMbio, a consortium of ecologically relevant microbes. We first combine standard microbiological methods with an adapted micro skin-swabbing tool to describe the skin-resident bacteria on the C. elegans surface. Furthermore, we conduct 16S rRNA gene sequencing studies …


Whole Genome Sequencing Based Analysis Of Inflammation Biomarkers In The Trans-Omics For Precision Medicine (Topmed) Consortium, Min-Zhi Jiang, Sheila M Gaynor, Xihao Li, Eric Van Buren, Adrienne Stilp, Erin Buth, Fei Fei Wang, Regina Manansala, Stephanie M Gogarten, Zilin Li, Linda M Polfus, Shabnam Salimi, Joshua C Bis, Nathan Pankratz, Lisa R Yanek, Peter Durda, Russell P Tracy, Stephen S Rich, Jerome I Rotter, Braxton D Mitchell, Joshua P Lewis, Bruce M Psaty, Katherine A Pratte, Edwin K Silverman, Robert C Kaplan, Christy Avery, Kari E North, Rasika A Mathias, Nauder Faraday, Honghuang Lin, Biqi Wang, April P Carson, Arnita F Norwood, Richard A Gibbs, Charles Kooperberg, Jessica Lundin, Ulrike Peters, Josée Dupuis, Lifang Hou, Myriam Fornage, Emelia J Benjamin, Alexander P Reiner, Russell P Bowler, Xihong Lin, Paul L Auer, Laura M Raffield, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Topmed Inflammation Working Group Aug 2024

Whole Genome Sequencing Based Analysis Of Inflammation Biomarkers In The Trans-Omics For Precision Medicine (Topmed) Consortium, Min-Zhi Jiang, Sheila M Gaynor, Xihao Li, Eric Van Buren, Adrienne Stilp, Erin Buth, Fei Fei Wang, Regina Manansala, Stephanie M Gogarten, Zilin Li, Linda M Polfus, Shabnam Salimi, Joshua C Bis, Nathan Pankratz, Lisa R Yanek, Peter Durda, Russell P Tracy, Stephen S Rich, Jerome I Rotter, Braxton D Mitchell, Joshua P Lewis, Bruce M Psaty, Katherine A Pratte, Edwin K Silverman, Robert C Kaplan, Christy Avery, Kari E North, Rasika A Mathias, Nauder Faraday, Honghuang Lin, Biqi Wang, April P Carson, Arnita F Norwood, Richard A Gibbs, Charles Kooperberg, Jessica Lundin, Ulrike Peters, Josée Dupuis, Lifang Hou, Myriam Fornage, Emelia J Benjamin, Alexander P Reiner, Russell P Bowler, Xihong Lin, Paul L Auer, Laura M Raffield, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Topmed Inflammation Working Group

Faculty, Staff and Student Publications

Inflammation biomarkers can provide valuable insight into the role of inflammatory processes in many diseases and conditions. Sequencing based analyses of such biomarkers can also serve as an exemplar of the genetic architecture of quantitative traits. To evaluate the biological insight, which can be provided by a multi-ancestry, whole-genome based association study, we performed a comprehensive analysis of 21 inflammation biomarkers from up to 38 465 individuals with whole-genome sequencing from the Trans-Omics for Precision Medicine (TOPMed) program (with varying sample size by trait, where the minimum sample size was n = 737 for MMP-1). We identified 22 distinct single-variant …


Diagnostic Utility Of Dna Methylation Analysis In Genetically Unsolved Pediatric Epilepsies And Chd2 Episignature Refinement, Christy W Laflamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V Walker, Daniel Darnell, Scott R Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley Mcconkey, Jennifer Kerkhof, Michael A Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C Worley, Jill A Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L Carvill, University Of Washington Center For Rare Disease Research, Zhaoming Wang, Samuel F Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford Aug 2024

Diagnostic Utility Of Dna Methylation Analysis In Genetically Unsolved Pediatric Epilepsies And Chd2 Episignature Refinement, Christy W Laflamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Talia J Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B Gibson, Denis M Nyaga, Nico Lieffering, Malavika Hebbar, Emily V Walker, Daniel Darnell, Scott R Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley Mcconkey, Jennifer Kerkhof, Michael A Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C Worley, Jill A Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L Carvill, University Of Washington Center For Rare Disease Research, Zhaoming Wang, Samuel F Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford

Faculty, Staff and Students Publications

Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain unstudied in DEEs. We interrogate the diagnostic utility of genome-wide DNA methylation array analysis on peripheral blood samples from 582 individuals with genetically unsolved DEEs. We identify rare differentially methylated regions (DMRs) and explanatory episignatures to uncover causative and candidate genetic etiologies in 12 individuals. Using long-read sequencing, we identify DNA variants underlying rare DMRs, including one balanced translocation, three CG-rich repeat expansions, and four copy number variants. We also …


An Unusual Case Of Refractory Hypoxia: The Many Ways Of Providing Oxygen, Saliha Erdem, Mir Babar Basir Aug 2024

An Unusual Case Of Refractory Hypoxia: The Many Ways Of Providing Oxygen, Saliha Erdem, Mir Babar Basir

Journal of Shock and Hemodynamics

This case report outlines the complex clinical course of a 26-year-old female patient who presented with altered mental status after an N-methyl-3,4-methylenedioxy-amphetamine overdose. The patient exhibited profound hemodynamic instability and respiratory failure. She subsequently developed shock, necessitating advanced life support measures, including veno-venous extracorporeal membrane oxygenation with a dual lumen right atrium to pulmonary artery cannula (ProtekDuo; LivaNova, London, UK) and Quadrox Oxygenator (Getinge, Wayne, NJ) system. This resulted in worsening hypoxemia, which was attributed to an increased left ventricular preload. In response, an intra-aortic balloon pump was used to decrease the left ventricle’s afterload. After balloon placement, the patient’s …


An Interesting Case Of Wunderlich Syndrome And Page Kidney, Megan Worthington, Nicholaus Monsma, Raj Pyne Aug 2024

An Interesting Case Of Wunderlich Syndrome And Page Kidney, Megan Worthington, Nicholaus Monsma, Raj Pyne

Advances in Clinical Medical Research and Healthcare Delivery

We present a case of Wunderlich Syndrome and Page Kidney, a rarely reported combination. Wunderlich Syndrome, characterized by spontaneous renal hemorrhage without a history of trauma, is typically associated with Lenk’s triad of flank pain, mass, and hypovolemia. Page Kidney induced hypertension, a rare condition resulting from external renal compression associated with renin-mediated mechanisms. Our case demonstrates the importance in quick recognition and treatment as blood pressure changes can be fast and dramatic. Our case also has the added dimension of renin measurements. After the patients hypertension developed, his initial renin levels were within normal range, but they later showed …


Missing The Overlap, Rutwik Pradeep Sharma, Mohamed Mohamed Ahmed, Ryan Tam, Alexander T. Kusnik, Ali Jaan, Ari Chodos, Krishna Tangirala Aug 2024

Missing The Overlap, Rutwik Pradeep Sharma, Mohamed Mohamed Ahmed, Ryan Tam, Alexander T. Kusnik, Ali Jaan, Ari Chodos, Krishna Tangirala

Advances in Clinical Medical Research and Healthcare Delivery

A 43-year-old female presented with painful obstructive jaundice, a mixed pattern of elevation of liver injury markers and neutrophilic leukocytosis. Evaluation with endoscopic retrograde cholangiopancreatography (ERCP) was unremarkable. The antimitochondrial antibody (AMA) titers were elevated. She was discharged on ursodeoxycholic acid (UDCA) for Primary Biliary Cirrhosis (PBC) but was readmitted for worsening symptoms. The patient's liver biopsy results suggested Overlap syndrome (Primary Biliary Cirrhosis-Autoimmune hepatitis). She was then given corticosteroid therapy concurrently with UDCA after which she improved and remained asymptomatic. In conclusion, we would like to report this atypical presentation of overlap syndrome and hope the medical community learns …


Pembrolizumab Induced Hyponatremia. A Case Report, Mouna Reghis, Taanvi Gowdar, Arjun Sekar Aug 2024

Pembrolizumab Induced Hyponatremia. A Case Report, Mouna Reghis, Taanvi Gowdar, Arjun Sekar

Advances in Clinical Medical Research and Healthcare Delivery

Hyponatremia is the most common electrolyte abnormality inpatient. Medications are a common cause of this. Cancer treatment has evolved with immune check point inhibitors replacing conventional chemotherapy agents. Pembrolizumab, which is a program cell death receptor-1 ligand has been shown to cause endocrinopathies. We describe a case of hyponatremia due to pembrolizumab


Case Report Of Unilateral Dysphagia In The Context Of A Classical Type Of Eagle Syndrome, Ryan Tam, Stephen D. Howard, Timothy Ehmann, Bryan Scott Aug 2024

Case Report Of Unilateral Dysphagia In The Context Of A Classical Type Of Eagle Syndrome, Ryan Tam, Stephen D. Howard, Timothy Ehmann, Bryan Scott

Advances in Clinical Medical Research and Healthcare Delivery

A patient presents with unilateral, right-sided dysphagia and generalized facial symptoms following past surgical history of tonsillectomy that is consistent with an underdiagnosis of Eagle Syndrome. The elongation of the styloid process likely impinged on the glossopharyngeal and vagus nerves resulting in symptoms. Given the lack of recognition of the disease, this case report describes the presentation of Eagle Syndrome to encourage physicians to consider this disease as part of a broader differential diagnosis.


Cocaine As A Rare Cause Of Cholecystitis, Abdullah A. Orakzai, Osama Sherjeel Khan, Mustafa Shah, Syeda Sarah Raza, Mehr A. Orakzai, Muhammad H. Sharif Aug 2024

Cocaine As A Rare Cause Of Cholecystitis, Abdullah A. Orakzai, Osama Sherjeel Khan, Mustafa Shah, Syeda Sarah Raza, Mehr A. Orakzai, Muhammad H. Sharif

Advances in Clinical Medical Research and Healthcare Delivery

Cholecystitis, inflammation of the gallbladder, is diagnosed in approximately 200,000 people in the US each year. Cocaine is an illicit drug that is wildly abused in the US, GI complications such as acute pancreatitis, colitis, bowel perforation, mesenteric ischemia, and biliary tree obstruction have been reported in limited studies. To the best of our knowledge, there are no reported cases of cocaine-induced cholecystitis and no established treatment plans to date, however, we strongly believe that our patient’s cocaine use resulted in cholecystitis. Hence, we wanted to shed some light on the possible side effects of cocaine on the gall bladder.


The Role Of Osteopathic Manipulative Treatment In Neonatal Abstinence Syndrome, Kathryn Workman, Andrea M. Bodine, Md, Victoria Tuttle, Do Aug 2024

The Role Of Osteopathic Manipulative Treatment In Neonatal Abstinence Syndrome, Kathryn Workman, Andrea M. Bodine, Md, Victoria Tuttle, Do

Advances in Clinical Medical Research and Healthcare Delivery

Context: The United States opioid epidemic has been an ongoing public health crisis. Nationally, maternal opioid use resulted in 82% increase in Neonatal Abstinence Syndrome (NAS), from 2010 to 2017. The opioid withdrawal process of NAS can lead to somatic dysfunctions. Osteopathic Manipulative Treatment (OMT) may decrease muscular and fascial strain in the body and provide relaxation to the NAS neonate.

Objectives: The objectives of this study were to compare the length of hospital stay (LOS) of NAS neonates who received OMT, and neonates given standard medical care without OMT and to evaluate the change in weight of the two …