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 3271 - 3300 of 9452

Full-Text Articles in Medical Specialties

Q2 Roller Implementation In Medical Icu: A Quality Improvement Project, Kelsey Sawyer Jul 2024

Q2 Roller Implementation In Medical Icu: A Quality Improvement Project, Kelsey Sawyer

Covenant Nurses Week 2024

No abstract provided.


Effects Of Compassion Fatigue And Burnout On Overall Patient Outcomes: An Integrated Research Review, Stephanie Pigg Jul 2024

Effects Of Compassion Fatigue And Burnout On Overall Patient Outcomes: An Integrated Research Review, Stephanie Pigg

Covenant Nurses Week 2024

No abstract provided.


Impact Of Rehab Among Stroke Patients Affecting Anxiety And Depression; Faith 4 Neurosurgical Icu, Stephanie Pigg, Stephan R Smith Jul 2024

Impact Of Rehab Among Stroke Patients Affecting Anxiety And Depression; Faith 4 Neurosurgical Icu, Stephanie Pigg, Stephan R Smith

Covenant Nurses Week 2024

No abstract provided.


Do Hourly Neuro Exams Lead To Sleep Deprivation And Icu Delirium: A Research Review, Toni Gafford Jul 2024

Do Hourly Neuro Exams Lead To Sleep Deprivation And Icu Delirium: A Research Review, Toni Gafford

Covenant Nurses Week 2024

No abstract provided.


The Implementation Of Comfort Medication Kits In Hospice Patients’ Homes To Reduce Hospice Revocations, Brandi J. Parker Jul 2024

The Implementation Of Comfort Medication Kits In Hospice Patients’ Homes To Reduce Hospice Revocations, Brandi J. Parker

Doctor of Nursing Practice Projects

Background: When hospice patients experience a symptomatic crisis at the end of life, unmanaged symptoms can lead to unwanted hospitalizations and the revocation of their hospice benefits. Strategies to reduce the incidents of hospice revocation are needed to improve patient care and quality of life.

Purpose: The quality improvement project aimed to reduce hospice revocation rates by implementing comfort medication kits in eligible hospice patients’ homes.

Methods: The project’s intervention included identifying patients at high risk for revocation, patients with a cancer diagnosis, and patients with a prognosis of two weeks or less. Comfort medication kits were placed in the …


Ekg Is Key: A Quality Improvement Project To Decrease Door-To-Ekg Time In A Rural Emergency Department, Amanda Southwell Jul 2024

Ekg Is Key: A Quality Improvement Project To Decrease Door-To-Ekg Time In A Rural Emergency Department, Amanda Southwell

Doctor of Nursing Practice Projects

Background: Electrocardiograms (EKGs) are the priority when evaluating patients with chest pain who present to the Emergency Department (ED). The American Heart Association and other governing bodies suggest a 10-minute door-to-EKG (DTE) time. The target facility displayed a delay in DTE times.

Purpose: The Doctor of Nursing Practice (DNP) quality improvement (QI) project aimed to decrease the average DTE time for patients over 18 years old with chest pain who presented to the ED registration area.

Methods: The DNP project consisted of an EKG suite to perform EKGs near the ED registration/triage area. Registration and ED staff were educated on …


Cancer-Related Cognitive Impairment As A Key Contributor To Psychopathology In Cancer Survivors: Implications For Prevention, Treatment And Supportive Care, Darren Haywood, Melissa Henry, Evan Dauer, Oscar Lederman, Morgan Farley, Ashley M. Henneghan, Moira O’Connor, Michael Jefford, Susan L. Rossell, Nicolas H. Hart Jul 2024

Cancer-Related Cognitive Impairment As A Key Contributor To Psychopathology In Cancer Survivors: Implications For Prevention, Treatment And Supportive Care, Darren Haywood, Melissa Henry, Evan Dauer, Oscar Lederman, Morgan Farley, Ashley M. Henneghan, Moira O’Connor, Michael Jefford, Susan L. Rossell, Nicolas H. Hart

Research outputs 2022 to 2026

A significant proportion of cancer survivors will experience some form of mental health compromise across domains including mood, anxiety, psychosis, eating disorders, and substance use. This psychopathology within cancer survivors is related to a range of negative outcomes and can also have a substantial negative impact on quality of life. Along with psychopathology, cognitive impairments are also commonly experienced, resulting in deficits in memory, reasoning, decision-making, speed of processing, and concentration, collectively referred to as cancer-related cognitive impairment (CRCI). Within the non-oncology literature, cognitive deficits are consistently demonstrated to be a key transdiagnostic aetiological feature of psychopathology, functionally contributing to …


Exercise And Diet Support In Breast And Prostate Cancer Survivors: Findings From Focus Groups, Jack Dalla Via, Christopher R. Andrew, Brenton J. Baguley, Nina Stewart, Jonathan M. Hodgson, Joshua R. Lewis, Mandy Stanley, Mary A. Kennedy Jul 2024

Exercise And Diet Support In Breast And Prostate Cancer Survivors: Findings From Focus Groups, Jack Dalla Via, Christopher R. Andrew, Brenton J. Baguley, Nina Stewart, Jonathan M. Hodgson, Joshua R. Lewis, Mandy Stanley, Mary A. Kennedy

Research outputs 2022 to 2026

Purpose: Cancer survival is improving, making optimal management of long-term treatment-related adverse effects increasingly important. Exercise and a healthy diet are beneficial and regularly recommended in cancer survivorship guidelines; however, few cancer survivors meet these recommendations so there is a need to explore why. This study aimed to understand experiences receiving exercise and diet support among Australian breast and prostate cancer survivors during and following treatment, and to explore what support they would like to receive. Methods: Adults who completed active treatment for breast or prostate cancer were recruited via a private cancer care centre. Using a qualitative descriptive study …


Lurbinectedin In Small Cell Lung Cancer: Real-World Experience Of A Multicentre National Early Access Programme, Marliese Alexander, Jennifer Rogers, Sagun Parakh, Paul Mitchell, Timothy D. Clay, Steven Kao, Brett G.M. Hughes, Malinda Itchins, Benjamin Y. Kong, Nick Pavlakis, Benjamin J. Solomon, Thomas John Jul 2024

Lurbinectedin In Small Cell Lung Cancer: Real-World Experience Of A Multicentre National Early Access Programme, Marliese Alexander, Jennifer Rogers, Sagun Parakh, Paul Mitchell, Timothy D. Clay, Steven Kao, Brett G.M. Hughes, Malinda Itchins, Benjamin Y. Kong, Nick Pavlakis, Benjamin J. Solomon, Thomas John

Research outputs 2022 to 2026

Background and Aims: Lurbinectedin is a novel oncogenic transcription inhibitor active in several cancers, including small cell lung cancer (SCLC). We aimed to describe the first Australian experience of the clinical efficacy and tolerability of lurbinectedin for the treatment of SCLC after progression on platinum-containing therapy. Methods: Multicentre real-world study of individuals with SCLC initiating lurbinectedin monotherapy (3.2 mg/m2 three-weekly) on an early access programme between May 2020 and December 2021. Key outcomes were clinical utilisation, efficacy and tolerability. Progression-free survival (PFS) and overall survival (OS) were calculated using the Kaplan–Meier method. Outcome data were collected within the AUstralian Registry …


Efektivitas Blood Flow Restriction Exercise Dalam Peningkatan Quadricep Strength Pada Pasien Post Acl Rekonstruksi : Literature Review, Auvin Joe Ginting Jul 2024

Efektivitas Blood Flow Restriction Exercise Dalam Peningkatan Quadricep Strength Pada Pasien Post Acl Rekonstruksi : Literature Review, Auvin Joe Ginting

Jurnal Fisioterapi Terapan Indonesia

This article aims to evaluate the Effectiveness of Blood Flow Restriction Exercise in Improving Quadriceps Strength in Patients with ACL Reconstruction. This project is a literature study in narrative form. The background for conducting this research is the high incidence of ACL tears, ranging from 78 to 81 cases per 100,000 population worldwide in a year. The most common surgical treatment provided is ACL reconstruction. Quadriceps strength reduction after 6 months post-operation reaches 20% compared to pre-operation. From the symptoms and clinical complaints of quadriceps muscle weakness, one of the interventions that can be performed is Blood Flow Restriction …


Injuries Related To Waterskiing Between 2012 And 2022: A National Database Study., Sean M Muir, Tyler Rizzieri, Andrew Brown, Cole Graham, Laken Fulmer, Ryan Scagliarini, Kristine Lombardozzi Jul 2024

Injuries Related To Waterskiing Between 2012 And 2022: A National Database Study., Sean M Muir, Tyler Rizzieri, Andrew Brown, Cole Graham, Laken Fulmer, Ryan Scagliarini, Kristine Lombardozzi

Trauma and Acute Care Articles

We conducted an epidemiological study by using the National Electronic Injury Surveillance System (NEISS) database to assess and quantify waterskiing injuries between 2012 and 2022. A total of 898 injuries were reported, primarily among Caucasian males during competition. Head (177, 20%), face (93, 10%), and knee (70, 8%) were the most prevalent types of injuries. Common physical examination findings included muscle strains, ligament sprains, lacerations, and fractures. Although rare, there were reported cases of dental injury, hemorrhage, crushing, foreign body, and amputation as well. These findings suggest that protective equipment, particularly headgear, is necessary to reduce the incidence of waterskiing …


Surgical Opportunism For Hand Reconstruction Following A Mutilating Injury: A Case Report., Krishna A Patel, Tuna Özyurekoglu Jul 2024

Surgical Opportunism For Hand Reconstruction Following A Mutilating Injury: A Case Report., Krishna A Patel, Tuna Özyurekoglu

Trauma and Acute Care Articles

We report our management of a 53-year-old female who suffered a wood planer hand-mutilating injury with significant dorsal soft tissue loss and partial metacarpophalangeal joint (MCPJ) amputations of the thumb, index, and middle fingers. The middle finger was deconstructed for "spare parts" and a vascularized osteochondral graft was utilized to reconstruct the metacarpal articular surface of the index finger proximal phalanx, allowing the pedicled transposition of the index finger to the third metacarpal. The middle finger's distal interphalangeal joint was transplanted non-vascularly to recreate the thumb MCPJ and the elevation of a middle finger fillet flap allowed dorsal wound coverage. …


A Global Perspective On The Treatment And Maintenance Of Mature Skin Using Gentle Cleansers And Moisturizers, Joachim Fluhr, Andrew Alexis, Anneke Andriessen, Olga Barrios, Peter Bjerring, Peter Foley, Michael Gold, Hashim Kaderbhai, Chengfeng Zhang Jul 2024

A Global Perspective On The Treatment And Maintenance Of Mature Skin Using Gentle Cleansers And Moisturizers, Joachim Fluhr, Andrew Alexis, Anneke Andriessen, Olga Barrios, Peter Bjerring, Peter Foley, Michael Gold, Hashim Kaderbhai, Chengfeng Zhang

Internal Medicine, East Africa

Xerosis is highly prevalent in the population aged over 50 years and substantially impacts quality of life due to the associated stigma, related pruritus, and potential sequelae. We propose that the term mature xerosis be used for subjects over 50 who suffer from age-related xerosis and replace senile xerosis to describe the phenomenon. The etiology of xerosis depends on genetic and environmental factors that affect stratum corneum hydration and skin barrier function. Skincare to restore barrier function is essential in xerosis treatment and is relevant for maintaining and preventing its progression. Many moisturizers and cleansers are available for xerosis; however, …


Myalgic Encephalomyelitis/Chronic Fatigue Syndrome After Sars-Cov-2 Infection, Elizabeth R. Unger, Jin-Mann S. Lin, Lauren E. Wisk, Huihui Yu, Michelle L'Hommedieu, Helen Lavretsky, Juan Carlos C. Montoy, Michael A. Gottlieb, Kristin L. Rising, Nicole L. Gentile, Michelle Santangelo, Arjun K. Venkatesh, Robert M. Rodriguez, Mandy J. Hill, Rachel E. Geyer, Efrat R. Kean, Sharon Saydah, Samuel A. Mcdonald, Ryan Huebinger, Ahamed H. Idris, Jocelyn Dorney, Bala Hota, Erica S. Spatz, Kari A. Stephens, Robert A. Weinstein, Joann G. Elmore Jul 2024

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome After Sars-Cov-2 Infection, Elizabeth R. Unger, Jin-Mann S. Lin, Lauren E. Wisk, Huihui Yu, Michelle L'Hommedieu, Helen Lavretsky, Juan Carlos C. Montoy, Michael A. Gottlieb, Kristin L. Rising, Nicole L. Gentile, Michelle Santangelo, Arjun K. Venkatesh, Robert M. Rodriguez, Mandy J. Hill, Rachel E. Geyer, Efrat R. Kean, Sharon Saydah, Samuel A. Mcdonald, Ryan Huebinger, Ahamed H. Idris, Jocelyn Dorney, Bala Hota, Erica S. Spatz, Kari A. Stephens, Robert A. Weinstein, Joann G. Elmore

Department of Emergency Medicine Faculty Papers

IMPORTANCE: Chronic symptoms reported following an infection with SARS-CoV-2, such as cognitive problems, overlap with symptoms included in the definition of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).

OBJECTIVE: To evaluate the prevalence of ME/CFS-like illness subsequent to acute SARS-CoV-2 infection, changes in ME/CFS symptoms through 12 months of follow-up, and the association of ME/CFS symptoms with SARS-CoV-2 test results at the acute infection-like index illness.

DESIGN, SETTING, AND PARTICIPANTS: This prospective, multisite, longitudinal cohort study (Innovative Support for Patients with SARS-CoV-2 Infections Registry [INSPIRE]) enrolled participants from December 11, 2020, to August 29, 2022. Participants were adults aged 18 to 64 …


Decentralized Clinical Trials For Medications To Reduce The Risk Of Dementia: Consensus Report And Guidance, Leanne Howard, Carla Abdelnour, Erin Abner, Ricardo F. Allegri, Hiroko H. Dodge, Serge Gauthier, Camilla M. Hoyos, Gregory Jicha, Patrick G. Kehoe, Catherine J. Mummery, Adesola Ogunniyi, Nikolaos Scarmeas, Xiaoying Chen, Jodie R. Titiner, Christopher R. Weber, Ruth Peters Jul 2024

Decentralized Clinical Trials For Medications To Reduce The Risk Of Dementia: Consensus Report And Guidance, Leanne Howard, Carla Abdelnour, Erin Abner, Ricardo F. Allegri, Hiroko H. Dodge, Serge Gauthier, Camilla M. Hoyos, Gregory Jicha, Patrick G. Kehoe, Catherine J. Mummery, Adesola Ogunniyi, Nikolaos Scarmeas, Xiaoying Chen, Jodie R. Titiner, Christopher R. Weber, Ruth Peters

Neurology Faculty Publications

INTRODUCTION: Recent growth in the functionality and use of technology has prompted an increased interest in the potential for remote or decentralized clinical trials in dementia. There are many potential benefits associated with decentralized medication trials, but we currently lack specific recommendations for their delivery in the dementia field.

METHODS: A modified Delphi method engaged an expert panel to develop recommendations for the conduct of decentralized medication trials in dementia prevention. A working group of researchers and clinicians with expertise in dementia trials further refined the recommendations.

RESULTS: Overall, the recommendations support the delivery of decentralized trials in dementia prevention …


Type-2 Diabetes, Pancreatic Amylin, And Neuronal Metabolic Remodeling In Alzheimer's Disease, Noah Leibold, James R. Bain, Florin Despa Jul 2024

Type-2 Diabetes, Pancreatic Amylin, And Neuronal Metabolic Remodeling In Alzheimer's Disease, Noah Leibold, James R. Bain, Florin Despa

Neurology Faculty Publications

Type-2 diabetes raises the risk for Alzheimer’s disease (AD)-type dementia and the conversion from mild cognitive impairment to dementia, yet mechanisms connecting type-2 diabetes to AD remain largely unknown. Amylin, a pancreatic 𝜷-cell hormone co-secreted with insulin, participates in the central regulation of satiation, but also forms pancreatic amyloid in persons with type-2 diabetes and synergistically interacts with brain amyloid 𝜷 (A𝜷) pathology, in both sporadic and familial Alzheimer’s disease (AD). Growing evidence from studies of tumor growth, together with early observations in skeletal muscle, indicates amylin as a potential trigger of cellular metabolic reprogramming. Because the blood, cerebrospinal fluid, …


A Pathologic Study Of Perivascular Ptdp-43 Lin Bodies In Late-Nc, Ryan K. Shahidehpour, Peter T. Nelson, Adam D. Bachstetter Jul 2024

A Pathologic Study Of Perivascular Ptdp-43 Lin Bodies In Late-Nc, Ryan K. Shahidehpour, Peter T. Nelson, Adam D. Bachstetter

Neurology Faculty Publications

Background TAR DNA-Binding Protein 43 (TDP-43) pathological inclusions are a distinctive feature in dozens of neurodegenerative pathologies, including limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC). Prior investigations identified vascular-associated TDP-43-positive micro-lesions, known as “Lin bodies,” located on or near the brain capillaries of some individuals with LATE-NC. This study aimed to investigate the relationship between the accumulation of Lin bodies and glial cells in LATE-NC and the potential co-localization with ferritin, a protein associated with iron storage. Using multiplexed immunohistochemistry and digital pathology tools, we conducted pathological analyses to investigate the relationship between Lin bodies and glial markers (GFAP for …


Development Of A Durable And Low-Dose Universal Vaccine Against Swine Influenza A Virus, Erika Petro-Turnquist Jul 2024

Development Of A Durable And Low-Dose Universal Vaccine Against Swine Influenza A Virus, Erika Petro-Turnquist

Dissertations and Doctoral Documents, University of Nebraska-Lincoln, 2023–

Swine Influenza A Virus (IAV-S) imposes a significant burden on the pork industry and poses a great threat to public health due to its zoonotic potential. Susceptibility to human, avian, and swine influenza make pigs the ultimate mixing vessels for reassorted influenza A virus strains. Current vaccination strategies induce short-lived and strain-specific responses against IAV-S. Further, the substantial genetic diversity of IAV-S necessitates consistent revaccination and updating of commercial vaccines. Computational platforms have recently emerged as a promising strategy to develop new-age vaccines against infectious diseases in livestock animals. Here, we describe a computationally derived set of vaccine immunogens, called …


Necrotizing Sarcoid Granulomatosis With Hepatic Involvement And Reversible Noncirrhotic Portal Hypertension., Vivek V Jasti, Adam J Hanje Jul 2024

Necrotizing Sarcoid Granulomatosis With Hepatic Involvement And Reversible Noncirrhotic Portal Hypertension., Vivek V Jasti, Adam J Hanje

Ambulatory and Primary Care Articles

Necrotizing sarcoid granulomatosis falls within the spectrum of sarcoidosis and is characterized by features of necrosis and granulomatous vasculitis. Like classical sarcoidosis, it can affect numerous organ systems, and there is a wide range of disease activity. Few cases of necrotizing sarcoid granulomatosis have been reported in the liver. We present a case of necrotizing sarcoid granulomatosis associated with noncirrhotic portal hypertension.


Ultrapotent Broadly Neutralizing Human-Llama Bispecific Antibodies Against Hiv-1, Jianliang Xu, Tongqing Zhou, Krisha Mckee, Baoshan Zhang, Cuiping Liu, Alexandra F Nazzari, Amarendra Pegu, Chen-Hsiang Shen, Jordan E Becker, Michael F Bender, Payton Chan, Anita Changela, Ridhi Chaudhary, Xuejun Chen, Tal Einav, Young Do Kwon, Bob C Lin, Mark K Louder, Jonah S Merriam, Nicholas C Morano, Sijy O'Dell, Adam S Olia, Reda Rawi, Ryan S Roark, Tyler Stephens, I-Ting Teng, Emily Tourtellott-Fogt, Shuishu Wang, Eun Sung Yang, Lawrence Shapiro, Yaroslav Tsybovsky, Nicole A Doria-Rose, Rafael Casellas, Peter D Kwong Jul 2024

Ultrapotent Broadly Neutralizing Human-Llama Bispecific Antibodies Against Hiv-1, Jianliang Xu, Tongqing Zhou, Krisha Mckee, Baoshan Zhang, Cuiping Liu, Alexandra F Nazzari, Amarendra Pegu, Chen-Hsiang Shen, Jordan E Becker, Michael F Bender, Payton Chan, Anita Changela, Ridhi Chaudhary, Xuejun Chen, Tal Einav, Young Do Kwon, Bob C Lin, Mark K Louder, Jonah S Merriam, Nicholas C Morano, Sijy O'Dell, Adam S Olia, Reda Rawi, Ryan S Roark, Tyler Stephens, I-Ting Teng, Emily Tourtellott-Fogt, Shuishu Wang, Eun Sung Yang, Lawrence Shapiro, Yaroslav Tsybovsky, Nicole A Doria-Rose, Rafael Casellas, Peter D Kwong

Faculty, Staff and Student Publications

Broadly neutralizing antibodies are proposed as therapeutic and prophylactic agents against HIV‐1, but their potency and breadth are less than optimal. This study describes the immunization of a llama with the prefusion‐stabilized HIV‐1 envelope (Env) trimer, BG505 DS‐SOSIP, and the identification and improvement of potent neutralizing nanobodies recognizing the CD4‐binding site (CD4bs) of vulnerability. Two of the vaccine‐elicited CD4bs‐targeting nanobodies, G36 and R27, when engineered into a triple tandem format with llama IgG2a‐hinge region and human IgG1‐constant region (G36×3‐IgG2a and R27×3‐IgG2a), neutralized 96% of a multiclade 208‐strain panel at geometric mean IC80s of 0.314 and 0.033 µg mL−1, respectively. Cryo‐EM …


Effect Of Medicaid Expansion On Cancer Treatment And Survival Among Medicaid Beneficiaries And The Uninsured, Kristin M Primm, Hui Zhao, Naomi N Adjei, Charlotte C Sun, Alen Haas, Larissa A Meyer, Shine Chang Jul 2024

Effect Of Medicaid Expansion On Cancer Treatment And Survival Among Medicaid Beneficiaries And The Uninsured, Kristin M Primm, Hui Zhao, Naomi N Adjei, Charlotte C Sun, Alen Haas, Larissa A Meyer, Shine Chang

Faculty, Staff and Student Publications

BACKGROUND: The Affordable Care Act expanded Medicaid coverage for people with low income in the United States. Expanded insurance coverage could promote more timely access to cancer treatment, which could improve overall survival (OS), yet the long-term effects of Medicaid expansion (ME) remain unknown. We evaluated whether ME was associated with improved timely treatment initiation (TTI) and 3-year OS among patients with breast, cervical, colon, and lung cancers who were affected by the policy.

METHODS: Medicaid-insured or uninsured patients aged 40-64 with stage I-III breast, cervical, colon, or non-small cell lung cancer within the National Cancer Database (NCDB). A difference-in-differences …


Identification Of Immune-Associated Biomarkers Of Diabetes Nephropathy Tubulointerstitial Injury Based On Machine Learning: A Bioinformatics Multi-Chip Integrated Analysis, Lin Wang, Jiaming Su, Zhongjie Liu, Shaowei Ding, Yaotan Li, Baoluo Hou, Yuxin Hu, Zhaoxi Dong, Jingyi Tang, Hongfang Liu, Weijing Liu Jul 2024

Identification Of Immune-Associated Biomarkers Of Diabetes Nephropathy Tubulointerstitial Injury Based On Machine Learning: A Bioinformatics Multi-Chip Integrated Analysis, Lin Wang, Jiaming Su, Zhongjie Liu, Shaowei Ding, Yaotan Li, Baoluo Hou, Yuxin Hu, Zhaoxi Dong, Jingyi Tang, Hongfang Liu, Weijing Liu

Faculty, Staff and Student Publications

BACKGROUND: Diabetic nephropathy (DN) is a major microvascular complication of diabetes and has become the leading cause of end-stage renal disease worldwide. A considerable number of DN patients have experienced irreversible end-stage renal disease progression due to the inability to diagnose the disease early. Therefore, reliable biomarkers that are helpful for early diagnosis and treatment are identified. The migration of immune cells to the kidney is considered to be a key step in the progression of DN-related vascular injury. Therefore, finding markers in this process may be more helpful for the early diagnosis and progression prediction of DN.

METHODS: The …


A Deep Catalogue Of Protein-Coding Variation In 983,578 Individuals, Kathie Y Sun, Xiaodong Bai, Siying Chen, Suying Bao, Chuanyi Zhang, Manav Kapoor, Joshua Backman, Tyler Joseph, Evan Maxwell, George Mitra, Alexander Gorovits, Adam Mansfield, Boris Boutkov, Sujit Gokhale, Lukas Habegger, Anthony Marcketta, Adam E Locke, Liron Ganel, Alicia Hawes, Michael D Kessler, Deepika Sharma, Jeffrey Staples, Jonas Bovijn, Sahar Gelfman, Alessandro Di Gioia, Veera M Rajagopal, Alexander Lopez, Jennifer Rico Varela, Jesús Alegre-Díaz, Jaime Berumen, Roberto Tapia-Conyer, Pablo Kuri-Morales, Jason Torres, Jonathan Emberson, Rory Collins, Regeneron Genetics Center, Rgc-Me Cohort Partners; Michael Cantor, Michael Cantor, Timothy Thornton, Hyun Min Kang, John D Overton, Alan R Shuldiner, M Laura Cremona, Mona Nafde, Aris Baras, Gonçalo Abecasis, Jonathan Marchini, Jeffrey G Reid, William Salerno, Suganthi Balasubramanian Jul 2024

A Deep Catalogue Of Protein-Coding Variation In 983,578 Individuals, Kathie Y Sun, Xiaodong Bai, Siying Chen, Suying Bao, Chuanyi Zhang, Manav Kapoor, Joshua Backman, Tyler Joseph, Evan Maxwell, George Mitra, Alexander Gorovits, Adam Mansfield, Boris Boutkov, Sujit Gokhale, Lukas Habegger, Anthony Marcketta, Adam E Locke, Liron Ganel, Alicia Hawes, Michael D Kessler, Deepika Sharma, Jeffrey Staples, Jonas Bovijn, Sahar Gelfman, Alessandro Di Gioia, Veera M Rajagopal, Alexander Lopez, Jennifer Rico Varela, Jesús Alegre-Díaz, Jaime Berumen, Roberto Tapia-Conyer, Pablo Kuri-Morales, Jason Torres, Jonathan Emberson, Rory Collins, Regeneron Genetics Center, Rgc-Me Cohort Partners; Michael Cantor, Michael Cantor, Timothy Thornton, Hyun Min Kang, John D Overton, Alan R Shuldiner, M Laura Cremona, Mona Nafde, Aris Baras, Gonçalo Abecasis, Jonathan Marchini, Jeffrey G Reid, William Salerno, Suganthi Balasubramanian

Faculty, Staff and Student Publications

Rare coding variants that substantially affect function provide insights into the biology of a gene1-3. However, ascertaining the frequency of such variants requires large sample sizes4-8. Here we present a catalogue of human protein-coding variation, derived from exome sequencing of 983,578 individuals across diverse populations. In total, 23% of the Regeneron Genetics Center Million Exome (RGC-ME) data come from individuals of African, East Asian, Indigenous American, Middle Eastern and South Asian ancestry. The catalogue includes more than 10.4 million missense and 1.1 million predicted loss-of-function (pLOF) variants. We identify individuals with rare biallelic pLOF variants in 4,848 genes, 1,751 of …


Targeting Of Cyp2e1 By Mirnas In Alcohol-Induced Intestine Injury, Hyejin Mun, Sungyul Lee, Suyoung Choi, Ji-Hoon Jeong, Seungbeom Ko, Yoo Lim Chun, Benjamin Deaton, Clay T Yeager, Audrey Boyette, Juliana Palmera, London Newman, Ping Zhou, Soona Shin, Dong-Chan Kim, Cari A Sagum, Mark T Bedford, Young-Kook Kim, Jaeyul Kwon, Junyang Jung, Jeong Ho Chang, Je-Hyun Yoon Jul 2024

Targeting Of Cyp2e1 By Mirnas In Alcohol-Induced Intestine Injury, Hyejin Mun, Sungyul Lee, Suyoung Choi, Ji-Hoon Jeong, Seungbeom Ko, Yoo Lim Chun, Benjamin Deaton, Clay T Yeager, Audrey Boyette, Juliana Palmera, London Newman, Ping Zhou, Soona Shin, Dong-Chan Kim, Cari A Sagum, Mark T Bedford, Young-Kook Kim, Jaeyul Kwon, Junyang Jung, Jeong Ho Chang, Je-Hyun Yoon

Faculty, Staff and Student Publications

Although binge alcohol-induced gut leakage has been studied extensively in the context of reactive oxygen species-mediated signaling, it was recently revealed that post-transcriptional regulation plays an essential role as well. Ethanol (EtOH)-inducible cytochrome P450-2E1 (CYP2E1), a key enzyme in EtOH metabolism, promotes alcohol-induced hepatic steatosis and inflammatory liver disease, at least in part by mediating changes in intestinal permeability. For instance, gut leakage and elevated intestinal permeability to endotoxins have been shown to be regulated by enhancing CYP2E1 mRNA and CYP2E1 protein levels. Although it is understood that EtOH promotes CYP2E1 induction and activation, the mechanisms that regulate CYP2E1 expression …


Change In Trust In Us Government Health Agencies For Cancer Information In The Covid-19 Era, Onyema G Chido-Amajuoyi, Rajesh Talluri, Henry K Onyeaka, Itunu Sokale, Gideon T Dosunmu, Noelle Loconte, Sanjay Shete Jul 2024

Change In Trust In Us Government Health Agencies For Cancer Information In The Covid-19 Era, Onyema G Chido-Amajuoyi, Rajesh Talluri, Henry K Onyeaka, Itunu Sokale, Gideon T Dosunmu, Noelle Loconte, Sanjay Shete

Faculty, Staff and Student Publications

This cross-sectional study assesses changes in levels of public trust in US government health agencies providing cancer information.


Machine Learning Identifies Prognostic Subtypes Of The Tumor Microenvironment Of Nsclc, Duo Yu, Michael J Kane, Eugene J Koay, Ignacio I Wistuba, Brian P Hobbs Jul 2024

Machine Learning Identifies Prognostic Subtypes Of The Tumor Microenvironment Of Nsclc, Duo Yu, Michael J Kane, Eugene J Koay, Ignacio I Wistuba, Brian P Hobbs

Faculty, Staff and Student Publications

The tumor microenvironment (TME) plays a fundamental role in tumorigenesis, tumor progression, and anti-cancer immunity potential of emerging cancer therapeutics. Understanding inter-patient TME heterogeneity, however, remains a challenge to efficient drug development. This article applies recent advances in machine learning (ML) for survival analysis to a retrospective study of NSCLC patients who received definitive surgical resection and immune pathology following surgery. ML methods are compared for their effectiveness in identifying prognostic subtypes. Six survival models, including Cox regression and five survival machine learning methods, were calibrated and applied to predict survival for NSCLC patients based on PD-L1 expression, CD3 expression, …


Mutation Order In Acute Myeloid Leukemia Identifies Uncommon Patterns Of Evolution And Illuminates Phenotypic Heterogeneity, Matthew Schwede, Katharina Jahn, Jack Kuipers, Linde A Miles, Robert L Bowman, Troy Robinson, Ken Furudate, Hidetaka Uryu, Tomoyuki Tanaka, Yuya Sasaki, Asiri Ediriwickrema, Brooks Benard, Andrew J Gentles, Ross Levine, Niko Beerenwinkel, Koichi Takahashi, Ravindra Majeti Jul 2024

Mutation Order In Acute Myeloid Leukemia Identifies Uncommon Patterns Of Evolution And Illuminates Phenotypic Heterogeneity, Matthew Schwede, Katharina Jahn, Jack Kuipers, Linde A Miles, Robert L Bowman, Troy Robinson, Ken Furudate, Hidetaka Uryu, Tomoyuki Tanaka, Yuya Sasaki, Asiri Ediriwickrema, Brooks Benard, Andrew J Gentles, Ross Levine, Niko Beerenwinkel, Koichi Takahashi, Ravindra Majeti

Faculty, Staff and Student Publications

Acute myeloid leukemia (AML) has a poor prognosis and a heterogeneous mutation landscape. Although common mutations are well-studied, little research has characterized how the sequence of mutations relates to clinical features. Using published, single-cell DNA sequencing data from three institutions, we compared clonal evolution patterns in AML to patient characteristics, disease phenotype, and outcomes. Mutation trees, which represent the order of select mutations, were created for 207 patients from targeted panel sequencing data using 1 639 162 cells, 823 mutations, and 275 samples. In 224 distinct orderings of mutated genes, mutations related to DNA methylation typically preceded those related to …


Evaluation Of Current Redating Guidelines For Pregnancies ≤9 6/7 Weeks' Gestation, Grace Chen, Clara Choi, Allyson Nguyen, Mark Brunk-Grady, Tuan Nguyen Jul 2024

Evaluation Of Current Redating Guidelines For Pregnancies ≤9 6/7 Weeks' Gestation, Grace Chen, Clara Choi, Allyson Nguyen, Mark Brunk-Grady, Tuan Nguyen

Conference Presentation Abstracts

Objectives: The aim was to evaluate the validity of the current redating guidelines for pregnancies ≤9 6/7 weeks’ gestation. We postulated that visually apparent discrepancies between crown-rump length (CRL) measured by ultrasound (US) and CRL by last menstrual period (LMP) were statistically significant. Methods: This is a retrospective, cross-sectional study conducted between January 2019 and June 2023 at a tertiary referral center. Individuals who had singleton gestations between ≥6 0/7 and ≤9 6/7 weeks by known LMP were reviewed. For estimated gestational age (EGA) by LMP ≥6 0/7 and ≤8 6/7 weeks, a 3–5 day discrepancy between EGA by LMP …


Epigenetic Regulation Of Heart Failure, Manisha Deogharia, Priyatansh Gurha Jul 2024

Epigenetic Regulation Of Heart Failure, Manisha Deogharia, Priyatansh Gurha

Faculty, Staff and Student Publications

Purpose of review: The studies on chromatin-modifying enzymes and how they respond to different stimuli within the cell have revolutionized our understanding of epigenetics. In this review, we provide an overview of the recent studies on epigenetic mechanisms implicated in heart failure.

Recent findings: We focus on the major mechanisms and the conceptual advances in epigenetics as evidenced by studies in humans and mouse models of heart failure. The significance of epigenetic modifications and the enzymes that catalyze them is also discussed. New findings from the studies of histone lysine demethylases demonstrate their significance in regulating fetal gene expression, as …


Ceramide-Mediated Orchestration Of Oxidative Stress Response Through Filopodia-Derived Small Extracellular Vesicles, Zainuddin Quadri, Ahmed Elsherbini, Simone M. Crivelli, Salim S. El-Amouri, Priyanka Tripathi, Zhihui Zhu, Xiaojia Ren, Liping Zhang, Stefka D. Spassieva, Mariana N. Nikolova‑Karakashian, Erhard Bieberich Jul 2024

Ceramide-Mediated Orchestration Of Oxidative Stress Response Through Filopodia-Derived Small Extracellular Vesicles, Zainuddin Quadri, Ahmed Elsherbini, Simone M. Crivelli, Salim S. El-Amouri, Priyanka Tripathi, Zhihui Zhu, Xiaojia Ren, Liping Zhang, Stefka D. Spassieva, Mariana N. Nikolova‑Karakashian, Erhard Bieberich

Markey Cancer Center Faculty Publications

Extracellular vesicles (EVs) are shed from the plasma membrane, but the regulation and function of these EVs remain unclear. We found that oxidative stress induced by H 2 O 2 in Hela cells stimulated filopodia formation and the secretion of EVs. EVs were small (150 nm) and labeled for CD44, indicating that they were derived from filopodia. Filopodia-derived small EVs (sEVs) were enriched with the sphingolipid ceramide, consistent with increased ceramide in the plasma membrane of filopo- dia. Ceramide was colocalized with neutral sphingomyelinase 2 (nSMase2) and acid sphingomyelinase (ASM), two sphingomyelinases generating ceramide at the plasma membrane. Inhibition of …