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Articles 363691 - 363720 of 5209392

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Managing Clopidogrel Resistance In Neurointervention: Surveying Current Approaches, Hyun Woo Kim, Ivo Bach, Juan Carlos Martinez Gutierrez, Adam A Dmytriw, Salvatore D'Amato, Hussein A Zeineddine, Albert J Yoo, Sunil A Sheth Jul 2024

Managing Clopidogrel Resistance In Neurointervention: Surveying Current Approaches, Hyun Woo Kim, Ivo Bach, Juan Carlos Martinez Gutierrez, Adam A Dmytriw, Salvatore D'Amato, Hussein A Zeineddine, Albert J Yoo, Sunil A Sheth

Faculty, Staff and Student Publications

Background: Because of the variability in patient responses to clopidogrel and to reduce the risk of thromboembolic complications, adjusting the antiplatelet regimen based on platelet function testing has become a widespread practice in neurointervention. We aimed to explore current patterns related to this practice.

Methods: We conducted a survey targeting neurointerventionalists, comprising multiple-choice questions and opportunities for free-text responses when necessary. The survey was distributed via a professional society distribution list (the Society of Vascular and Interventional Neurology) and 2 consortium emailing lists (WovenEndoBridge and Neurointerventional Research Consortia). The data obtained from the responses were analyzed using descriptive statistics. …


Structural Analysis Of Aspiration Catheters And Procedural Outcomes: An Analysis Of The Svin Registry, Jaydevsinh N Dolia, Mahmoud H Mohammaden, Mohamed A Tarek, Mateus Damiani, Jonathan A Grossberg, Aqueel Pabaney, Michael Frankel, Dinesh V Jillella, Ameer E Hassan, Wondwossen G Tekle, Alexandros Georgiadis, Hamzah Saei, Santiago Ortega-Gutierrez, Juan Vivanco-Suarez, Milagros Galecio-Castillo, Aaron Rodriguez-Calienes, Shahram Majidi, Johanna Fifi, Stavros Matsoukas, James E Siegler, Mary Penckofer, Ankit Rana, Sunil A Sheth, Sergio A Salazar Marioni, Thanh N Nguyen, Mohamad Abdalkader, Italo Linfante, Guilherme Dabus, Brijesh P Mehta, Joy Sessa, Mouhammad Jumaa, Rebecca Sugg, Guillermo Linares, Alhamza R Al-Bayati, David S Libeskind, Raul G Nogueira, Diogo C Haussen Jul 2024

Structural Analysis Of Aspiration Catheters And Procedural Outcomes: An Analysis Of The Svin Registry, Jaydevsinh N Dolia, Mahmoud H Mohammaden, Mohamed A Tarek, Mateus Damiani, Jonathan A Grossberg, Aqueel Pabaney, Michael Frankel, Dinesh V Jillella, Ameer E Hassan, Wondwossen G Tekle, Alexandros Georgiadis, Hamzah Saei, Santiago Ortega-Gutierrez, Juan Vivanco-Suarez, Milagros Galecio-Castillo, Aaron Rodriguez-Calienes, Shahram Majidi, Johanna Fifi, Stavros Matsoukas, James E Siegler, Mary Penckofer, Ankit Rana, Sunil A Sheth, Sergio A Salazar Marioni, Thanh N Nguyen, Mohamad Abdalkader, Italo Linfante, Guilherme Dabus, Brijesh P Mehta, Joy Sessa, Mouhammad Jumaa, Rebecca Sugg, Guillermo Linares, Alhamza R Al-Bayati, David S Libeskind, Raul G Nogueira, Diogo C Haussen

Faculty, Staff and Student Publications

Background: Rapid expansion of mechanical thrombectomy and swift manufacturing development has translated into significant evolution of large-bore catheter technology. The objective of this study was to evaluate the association among diverse structural components of large-bore aspiration catheters on procedural performance.

Methods: Retrospective analysis of a prospectively maintained mechanical thrombectomy consortium (SVIN [Society of Vascular Interventional Neurology] Registry) treated with stand-alone contact aspiration for the first pass in the middle cerebral artery M1 or intracranial internal carotid artery occlusions from 2012 to 2021. Catheters were stratified on the basis of construction materials, tip technology, catheter sizing, and catheter lining. Factors associated …


Parallel Degradome-Seq And Dms-Mapseq Substantially Revise The Mirna Biogenesis Atlas In Arabidopsis, Xingxing Yan, Changhao Li, Kaiye Liu, Tianru Zhang, Qian Xu, Xindi Li, Jiaying Zhu, Ziying Wang, Anikah Yusuf, Shuqing Cao, Xu Peng, James J Cai, Xiuren Zhang Jul 2024

Parallel Degradome-Seq And Dms-Mapseq Substantially Revise The Mirna Biogenesis Atlas In Arabidopsis, Xingxing Yan, Changhao Li, Kaiye Liu, Tianru Zhang, Qian Xu, Xindi Li, Jiaying Zhu, Ziying Wang, Anikah Yusuf, Shuqing Cao, Xu Peng, James J Cai, Xiuren Zhang

Faculty, Staff and Student Publications

MicroRNAs (miRNAs) are produced from highly structured primary transcripts (pri-miRNAs) and regulate numerous biological processes in eukaryotes. Due to the extreme heterogeneity of these structures, the initial processing sites of plant pri-miRNAs and the structural rules that determine their processing have been predicted for many miRNAs but remain elusive for others. Here we used semi-active DCL1 mutants and advanced degradome-sequencing strategies to accurately identify the initial processing sites for 147 of 326 previously annotated Arabidopsis miRNAs and to illustrate their associated pri-miRNA cleavage patterns. Elucidating the in vivo RNA secondary structures of 73 pri-miRNAs revealed that about 95% of them …


Delayed Hip Arthroscopy For Femoroacetabular Impingement Syndrome Does Not Increase Revision But Does Increase Rates Of Chronic Opiate Use, Kian Niknam, Ryan Freshman, Sergio E Flores, Drew A Lansdown, Stephanie E Wong, Alan L Zhang Jul 2024

Delayed Hip Arthroscopy For Femoroacetabular Impingement Syndrome Does Not Increase Revision But Does Increase Rates Of Chronic Opiate Use, Kian Niknam, Ryan Freshman, Sergio E Flores, Drew A Lansdown, Stephanie E Wong, Alan L Zhang

Faculty, Staff and Student Publications

Introduction: In recent years, the utilization of hip arthroscopy to treat femoroacetabular impingement syndrome (FAIS) has increased due to its low complication rates, positive impact on patient-reported outcomes (PROs), and association with faster rehabilitation. Despite this, there are high rates of revision and conversion to total hip arthroplasty (THA) in some of these patients. It is unclear whether time from initial FAIS diagnosis to surgery is a risk factor for poor outcomes. In this study, we examined the relationship between timing of hip arthroscopy for FAIS and rates of 2-year revision hip procedures, 2-year conversion to total hip arthroplasty (THA), …


A Narrative Review Of Little League Shoulder: Proximal Humeral Physis Widening Is Only One Piece Of The Puzzle, It Is Time To Consider Posterior Glenoid Dysplasia, Natalie L Myers, Sean M Kennedy, Amanda J Arnold, Zachary A Gehring, Kaylin J Kruseman, John E Conway, Russ M Paine, Lane B Bailey, J Craig Garrison Jul 2024

A Narrative Review Of Little League Shoulder: Proximal Humeral Physis Widening Is Only One Piece Of The Puzzle, It Is Time To Consider Posterior Glenoid Dysplasia, Natalie L Myers, Sean M Kennedy, Amanda J Arnold, Zachary A Gehring, Kaylin J Kruseman, John E Conway, Russ M Paine, Lane B Bailey, J Craig Garrison

Faculty, Staff and Student Publications

Baseball athletes across all levels of play are at an increased risk for upper extremity injury due to the supraphysiologic demands on the shoulder and elbow during overhead throwing. Little league baseball players present with a unique subset of injuries that can affect the growth plate, commonly at the shoulder or the elbow. Ascertaining a diagnosis and plan of care for little league shoulder (LLS) historically focuses on the proximal humeral physis in skeletally immature throwing athletes presenting with shoulder pain. However, while not a current standard of care, posterior glenoid dysplasia is often present in youth baseball athletes presenting …


A Novel Treponema Pallidum Subspecies Pallidum Strain Associated With A Painful Oral Lesion Is A Member Of A Potentially Emerging Nichols-Related Subgroup, Maria Rosa Velasquez, Bridget D De Lay, Diane G Edmondson, Gary P Wormser, Steven J Norris, Kaitlin Cafferky, Eric Munzer, Ciril-Christian Rizk, Marina Keller Jul 2024

A Novel Treponema Pallidum Subspecies Pallidum Strain Associated With A Painful Oral Lesion Is A Member Of A Potentially Emerging Nichols-Related Subgroup, Maria Rosa Velasquez, Bridget D De Lay, Diane G Edmondson, Gary P Wormser, Steven J Norris, Kaitlin Cafferky, Eric Munzer, Ciril-Christian Rizk, Marina Keller

Faculty, Staff and Student Publications

Background: Early syphilitic lesions are typically painless; however, several recent case studies have included patients with tender lesions and no evidence of concurrent infections. Here we present the manifestations and serological and molecular findings of a patient from New York State with a painful tongue lesion.

Methods: The diagnosis of syphilis was based on a combination of physical examination, serologic, pathologic, and immunohistochemical findings. DNA obtained from a formalin-fixed, paraffin-embedded biopsy was used to characterize the infecting pathogen using polymerase chain reaction, multilocus sequence typing, and whole-genome sequencing methods.

Results: Polymerase chain reaction and multilocus sequence typing of the biopsy …


The Impact Of Ribosome Biogenesis In Cancer: From Proliferation To Metastasis, Malek Shatila Jul 2024

The Impact Of Ribosome Biogenesis In Cancer: From Proliferation To Metastasis, Malek Shatila

Faculty, Staff and Student Publications

A proportion of patients who undergo intraoperative cholangiogram (IOC) do not have bile duct stones at the time of endoscopic retrograde cholangiopancreatography (ERCP), either due to the spontaneous passage of stones or a false-positive IOC. Glucagon has been utilized as an inexpensive tool to allow the passage of micro-choledocholithiasis to the duodenum and resolve filling defects caused by stones or air bubbles. The purpose of our study is to understand the change in diagnostic accuracy of IOC to detect choledocholithiasis with intraoperative glucagon. We conducted a retrospective study at a tertiary care center on adult patients who underwent laparoscopic cholecystectomy …


Impact Of Antiretroviral Therapy During Acute Or Early Hiv Infection On Virologic And Immunologic Outcomes: Results From A Multinational Clinical Trial, Joshua C Cyktor, Cecilia Kanyama, Susan J Little, Susan E Cohn, Sharon A Riddler, Ann C Collier, Sonya L Heath, Pornphen Tantivitayakul, Beatriz Grinsztejn, Roberto C Arduino, James F Rooney, Gert U Van Zyl, Robert W Coombs, Lawrence Fox, Jintanat Ananworanich, Joseph J Eron, Scott F Sieg, John W Mellors, Eric S Daar Jul 2024

Impact Of Antiretroviral Therapy During Acute Or Early Hiv Infection On Virologic And Immunologic Outcomes: Results From A Multinational Clinical Trial, Joshua C Cyktor, Cecilia Kanyama, Susan J Little, Susan E Cohn, Sharon A Riddler, Ann C Collier, Sonya L Heath, Pornphen Tantivitayakul, Beatriz Grinsztejn, Roberto C Arduino, James F Rooney, Gert U Van Zyl, Robert W Coombs, Lawrence Fox, Jintanat Ananworanich, Joseph J Eron, Scott F Sieg, John W Mellors, Eric S Daar

Faculty, Staff and Student Publications

Objective: To assess how antiretroviral therapy (ART) initiation during acute or early HIV infection (AEHI) affects the viral reservoir and host immune responses.

Design: Single-arm trial of ART initiation during AEHI at 30 sites in the Americas, Africa, and Asia.

Methods: HIV DNA was measured at week 48 of ART in 5 million CD4 + T cells by sensitive qPCR assays targeting HIV gag and pol . Peripheral blood mononuclear cells were stimulated with potential HIV T cell epitope peptide pools consisting of env , gag , nef, and pol peptides and stained for expression of CD3, CD4, CD8, and …


Endovascular Versus Medical Therapy In Posterior Cerebral Artery Stroke: Role Of Baseline Nihss Score And Occlusion Site, Muhammad M Qureshi, Silja Räty, Marta Olivé-Gadea, Marc Ribo, Marios Psychogios, Urs Fischer, Anh Nguyen, Joji B Kuramatsu, David Haupenthal, Martin Köhrmann, Cornelius Deuschl, Jordi Kühne Escolà, Jelle Demeestere, Robin Lemmens, Lieselotte Vandewalle, Shadi Yaghi, Liqi Shu, Volker Puetz, Daniel P O Kaiser, Johannes Kaesmacher, Adnan Mujanovic, Dominique Cornelius Marterstock, Tobias Engelhorn, Manuel Requena, Hormuzdiyar H Dasenbrock, Piers Klein, Diogo C Haussen, Mahmoud H Mohammaden, Hend Abdelhamid, Lorena Souza Viana, Bruno Cunha, Isabel Fragata, Michele Romoli, Francesco Diana, Wei Hu, Chao Zhang, Pekka Virtanen, Riikka Lauha, Jessica Jesser, Judith Clark, Stavros Matsoukas, Johanna T Fifi, Sunil A Sheth, Sergio Salazar-Marioni, João Pedro Marto, João Nuno Ramos, Milena Miszczuk, Christoph Riegler, Sven Poli, Khouloud Poli, Ashutosh P Jadhav, Shashvat M Desai, Volker Maus, Maximilian Kaeder, Adnan H Siddiqui, Andre Monteiro, Hesham E Masoud, Neil Suryadareva, Maxim Mokin, Shail Thanki, Kemal Alpay, Pauli Ylikotila, James E Siegler, Italo Linfante, Guilherme Dabus, Negar Asdaghi, Vasu Saini, Christian H Nolte, Eberhard Siebert, Bettina L Serrallach, Charlotte S Weyland, Uta Hanning, Lukas Meyer, Anne Berberich, Peter A Ringleb, Raul G Nogueira, Simon Nagel Jul 2024

Endovascular Versus Medical Therapy In Posterior Cerebral Artery Stroke: Role Of Baseline Nihss Score And Occlusion Site, Muhammad M Qureshi, Silja Räty, Marta Olivé-Gadea, Marc Ribo, Marios Psychogios, Urs Fischer, Anh Nguyen, Joji B Kuramatsu, David Haupenthal, Martin Köhrmann, Cornelius Deuschl, Jordi Kühne Escolà, Jelle Demeestere, Robin Lemmens, Lieselotte Vandewalle, Shadi Yaghi, Liqi Shu, Volker Puetz, Daniel P O Kaiser, Johannes Kaesmacher, Adnan Mujanovic, Dominique Cornelius Marterstock, Tobias Engelhorn, Manuel Requena, Hormuzdiyar H Dasenbrock, Piers Klein, Diogo C Haussen, Mahmoud H Mohammaden, Hend Abdelhamid, Lorena Souza Viana, Bruno Cunha, Isabel Fragata, Michele Romoli, Francesco Diana, Wei Hu, Chao Zhang, Pekka Virtanen, Riikka Lauha, Jessica Jesser, Judith Clark, Stavros Matsoukas, Johanna T Fifi, Sunil A Sheth, Sergio Salazar-Marioni, João Pedro Marto, João Nuno Ramos, Milena Miszczuk, Christoph Riegler, Sven Poli, Khouloud Poli, Ashutosh P Jadhav, Shashvat M Desai, Volker Maus, Maximilian Kaeder, Adnan H Siddiqui, Andre Monteiro, Hesham E Masoud, Neil Suryadareva, Maxim Mokin, Shail Thanki, Kemal Alpay, Pauli Ylikotila, James E Siegler, Italo Linfante, Guilherme Dabus, Negar Asdaghi, Vasu Saini, Christian H Nolte, Eberhard Siebert, Bettina L Serrallach, Charlotte S Weyland, Uta Hanning, Lukas Meyer, Anne Berberich, Peter A Ringleb, Raul G Nogueira, Simon Nagel

Faculty, Staff and Student Publications

Background: Acute ischemic stroke with isolated posterior cerebral artery occlusion (iPCAO) lacks management evidence from randomized trials. We aimed to evaluate whether the association between endovascular treatment (EVT) and outcomes in iPCAO acute ischemic stroke is modified by initial stroke severity (baseline National Institutes of Health Stroke Scale [NIHSS]) and arterial occlusion site.

Methods: Based on the multicenter, retrospective, case-control study of consecutive iPCAO acute ischemic stroke patients (PLATO study [Posterior Cerebral Artery Occlusion Stroke]), we assessed the heterogeneity of EVT outcomes compared with medical management (MM) for iPCAO, according to baseline NIHSS score (≤6 versus >6) and occlusion site …


At-Risk Tackling Techniques And Effectiveness In English Premiership Rugby, Takashi Hirase Jul 2024

At-Risk Tackling Techniques And Effectiveness In English Premiership Rugby, Takashi Hirase

Faculty, Staff and Student Publications

Background: Head-down tackling has been associated with higher rates of head and neck injuries and less successful tackles compared with head-up tackling in American football. In rugby, head and neck injuries have been associated with tackling, with the tackler's head positioned in front of the ball carrier.

Purpose: To assess the success and risks of tackling techniques used in the English Rugby Premiership matches.

Study design: Cross-sectional study; Level of evidence, 3.

Methods: Three reviewers analyzed 1000 consecutive solo defensive tackling attempts during the 2022 to 2023 season in 6 English Rugby Premiership matches. Slow-motion replays were used to analyze …


The Role Of Occipital Condyle And Atlas Anomalies On Occipital Cervical Fusion Outcomes In Chiari Malformation Type I With Syringomyelia: A Study From The Park-Reeves Syringomyelia Research Consortium, Gregory W Albert, David F Bauer, Tammy Bethel-Anderson, Karin Bierbrauer, Douglas L Brockmeyer, Joshua J Chern, Daniel E Couture, David J Daniels, Brian J Dlouhy, Susan R Durham, Richard G Ellenbogen, Ramin Eskandari, Herbert E Fuchs, Gerald A Grant, Patrick C Graupman, Stephanie Greene, Jeffrey P Greenfield, Naina L Gross, Daniel J Guillaume, Todd C Hankinson, Gregory G Heuer, Mark Iantosca, Bermans J Iskandar, Eric M Jackson, George I Jallo, James M Johnston, Bruce A Kaufman, Robert F Keating, Nickalus R Khan, Mark D Krieger, Jeffrey R Leonard, Cormac O Maher, Francesco T Mangano, Jonathan Martin, J Gordon Mccomb, Sean D Mcevoy, Thanda Meehan, Arnold H Menezes, Michael S Muhlbauer, Brent R O'Neill, Greg Olavarria, John Ragheb, Nathan R Selden, Manish N Shah, Chevis N Shannon, Joshua S Shimony, Matthew D Smyth, Scellig S D Stone, Jennifer M Strahle, Mandeep S Tamber, James C Torner, Gerald F Tuite, Elizabeth C Tyler-Kabara, Scott D Wait, John C Wellons, William E Whitehead, Tae Sung Park, David D Limbrick, Raheel Ahmed Jul 2024

The Role Of Occipital Condyle And Atlas Anomalies On Occipital Cervical Fusion Outcomes In Chiari Malformation Type I With Syringomyelia: A Study From The Park-Reeves Syringomyelia Research Consortium, Gregory W Albert, David F Bauer, Tammy Bethel-Anderson, Karin Bierbrauer, Douglas L Brockmeyer, Joshua J Chern, Daniel E Couture, David J Daniels, Brian J Dlouhy, Susan R Durham, Richard G Ellenbogen, Ramin Eskandari, Herbert E Fuchs, Gerald A Grant, Patrick C Graupman, Stephanie Greene, Jeffrey P Greenfield, Naina L Gross, Daniel J Guillaume, Todd C Hankinson, Gregory G Heuer, Mark Iantosca, Bermans J Iskandar, Eric M Jackson, George I Jallo, James M Johnston, Bruce A Kaufman, Robert F Keating, Nickalus R Khan, Mark D Krieger, Jeffrey R Leonard, Cormac O Maher, Francesco T Mangano, Jonathan Martin, J Gordon Mccomb, Sean D Mcevoy, Thanda Meehan, Arnold H Menezes, Michael S Muhlbauer, Brent R O'Neill, Greg Olavarria, John Ragheb, Nathan R Selden, Manish N Shah, Chevis N Shannon, Joshua S Shimony, Matthew D Smyth, Scellig S D Stone, Jennifer M Strahle, Mandeep S Tamber, James C Torner, Gerald F Tuite, Elizabeth C Tyler-Kabara, Scott D Wait, John C Wellons, William E Whitehead, Tae Sung Park, David D Limbrick, Raheel Ahmed

Faculty, Staff and Student Publications

Objective: Congenital anomalies of the atlanto-occipital articulation may be present in patients with Chiari malformation type I (CM-I). However, it is unclear how these anomalies affect the biomechanical stability of the craniovertebral junction (CVJ) and whether they are associated with an increased incidence of occipitocervical fusion (OCF) following posterior fossa decompression (PFD). The objective of this study was to determine the prevalence of condylar hypoplasia and atlas anomalies in children with CM-I and syringomyelia. The authors also investigated the predictive contribution of these anomalies to the occurrence of OCF following PFD (PFD+OCF).

Methods: The authors analyzed the prevalence of condylar …


The Impact Of Hearing Impairment On Patient Care And Autonomy Jul 2024

The Impact Of Hearing Impairment On Patient Care And Autonomy

Faculty, Staff and Student Publications

Sensory deficits, including hypoacusis, can cause a barrier to communication between healthcare providers and patients, which in turn can lead to misdiagnosis and loss of patient autonomy. Such deficits are frequently overlooked in clinical encounters. We present a 92-year-old Spanish-speaking female who presented twice to the Emergency Department for complications of a diabetic foot infection. Limited evaluation, documentation, and accommodations regarding the patient's hypoacusis led to a misinterpretation of her mental status and a transfer of decision-making to surrogates. A two-toe amputation, mechanical intubation, and intensive care unit stay were followed. It was only after these events that the caregivers …


Use Of Ipsc-Derived Smooth Muscle Cells To Model Physiology And Pathology Jul 2024

Use Of Ipsc-Derived Smooth Muscle Cells To Model Physiology And Pathology

Faculty, Staff and Student Publications

The implementation of human induced pluripotent stem cell (hiPSC) models has introduced an additional tool for identifying molecular mechanisms of disease that complement animal models. Patient-derived or CRISPR/Cas9-edited induced pluripotent stem cells differentiated into smooth muscle cells (SMCs) have been leveraged to discover novel mechanisms, screen potential therapeutic strategies, and model in vivo development. The field has evolved over almost 15 years of research using hiPSC-SMCs and has made significant strides toward overcoming initial challenges such as the lineage specificity of SMC phenotypes. However, challenges both specific (eg, the lack of specific markers to thoroughly validate hiPSC-SMCs) and general (eg, …


Author Correction: Mediators Of Necroptosis: From Cell Death To Metabolic Regulation Jul 2024

Author Correction: Mediators Of Necroptosis: From Cell Death To Metabolic Regulation

Faculty, Staff and Student Publications

No abstract provided.


Reliable Detection Of Generalized Convulsive Seizures Using An Off-The-Shelf Digital Watch: A Multisite Phase 2 Study, John C Mosher, Yuri Dabaghian, Xi Luo, Blanca Talavera, Sandipan Pati, Masel Todd, Ryan Hays, Charles Akos Szabo, Guo-Qiang Zhang, Samden D Lhatoo Jul 2024

Reliable Detection Of Generalized Convulsive Seizures Using An Off-The-Shelf Digital Watch: A Multisite Phase 2 Study, John C Mosher, Yuri Dabaghian, Xi Luo, Blanca Talavera, Sandipan Pati, Masel Todd, Ryan Hays, Charles Akos Szabo, Guo-Qiang Zhang, Samden D Lhatoo

Faculty, Staff and Student Publications

Objective: The aim of this study was to develop a machine learning algorithm using an off-the-shelf digital watch, the Samsung watch (SM-R800), and evaluate its effectiveness for the detection of generalized convulsive seizures (GCS) in persons with epilepsy.

Methods: This multisite epilepsy monitoring unit (EMU) phase 2 study included 36 adult patients. Each patient wore a Samsung watch that contained accelerometer, gyroscope, and photoplethysmographic sensors. Sixty-eight time and frequency domain features were extracted from the sensor data and were used to train a random forest algorithm. A testing framework was developed that would better reflect the EMU setting, consisting of …


Lethal Phenotypes In Mendelian Disorders, Pilar Cacheiro, Samantha Lawson, Ignatia B Van Den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Duyzend, Peter N Robinson, Damian Smedley Jul 2024

Lethal Phenotypes In Mendelian Disorders, Pilar Cacheiro, Samantha Lawson, Ignatia B Van Den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Duyzend, Peter N Robinson, Damian Smedley

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Existing resources that characterize the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from human population sequencing studies. Several repositories document phenotypic annotations for rare disorders; however, there is a lack of comprehensive reporting on lethal phenotypes.

Methods: We queried Online Mendelian Inheritance in Man for terms related to lethality and classified all Mendelian genes according to the earliest age of death recorded for the associated disorders, from prenatal death to no reports of premature death. We characterized the genes across these lethality categories, …


Women Strength: Using Photovoice To Explore Female Chinese International Students’ Experiences, Yue Cai Jul 2024

Women Strength: Using Photovoice To Explore Female Chinese International Students’ Experiences, Yue Cai

Doctoral Dissertations

Female Chinese international students face discrimination and stereotypes in Western academia based on race and gender, yet they possess unique “Women Strength” characterized by agency, resilience, and self-advocacy. This study explores how these students navigate cultural differences and develop their strengths while studying in the U.S. Drawing upon “Women Strength” as a theoretical framework, including Community Cultural Wealth, Critical Feminist Theory- Chinese feminism, decolonial feminism, and transnational feminism, transformative agency, resilience theory, and self-advocacy theory, this research employs a qualitative approach, including Photovoice and autoethnography. Three research questions guide the study: 1) What cultural differences do female Chinese international students …


Forms Of Fiscal Governance In The Euro Area – What Role For The Delegation Approach?, Ioannis Litsios, M Ctania, Mark Baimbridge Jul 2024

Forms Of Fiscal Governance In The Euro Area – What Role For The Delegation Approach?, Ioannis Litsios, M Ctania, Mark Baimbridge

Plymouth Business School

Despite the common Euro Area (EA) requirements, we find notable differences in the quality of fiscal governance among the 19 member states. Moreover, characteristics of the delegation approach, which have been largely ignored in the EA fiscal governance framework, remain important in various member states. Using a two-way fixed effects panel data model for the EA countries during 2006–2018, we find that the delegation approach can be effective to improve the fiscal position. On the other hand, the imposition of centrally mandated common rules-based reforms has not taken into account the national political, social and institutional setting, and this may …


Runx2 Regulates Peripheral Nerve Regeneration To Promote Schwann Cell Migration And Re-Myelination, Rong Hu, Xinpeng Dun, Lolita Singh, Matthew C. Banton Jul 2024

Runx2 Regulates Peripheral Nerve Regeneration To Promote Schwann Cell Migration And Re-Myelination, Rong Hu, Xinpeng Dun, Lolita Singh, Matthew C. Banton

School of Biomedical Sciences

Runx2 is a major regulator of osteoblast differentiation and function; however, the role of Runx2 in peripheral nerve repair is unclear. Here, we analyzed Runx2 expression following injury and found that it was specifically up-regulated in Schwann cells. Furthermore, using Schwann cell-specific Runx2 knockout mice, we studied peripheral nerve development and regeneration and found that multiple steps in the regeneration process following sciatic nerve injury were Runx2-dependent. Changes observed in Runx2 knockout mice include increased proliferation of Schwann cells, impaired Schwann cell migration and axonal regrowth, reduced re-myelination of axons, and a block in macrophage clearance in the late stage …


Croning Academics: Menopause Matters In Higher Education, Marie Lavelle, Joanna Haynes, Emma Macleod-Johnstone Jul 2024

Croning Academics: Menopause Matters In Higher Education, Marie Lavelle, Joanna Haynes, Emma Macleod-Johnstone

School of Law, Humanities and Social Sciences

This writing is born out of our experiences of becoming older women, academy hags, facing the performative demands of the neoliberalising patriarchal university. We are raging. With the figure of the Crone, and feminist-killjoy-croning as our creative and livid research method (Ahmed, 2023), we squeeze time out/with impossible university spaces and schedules to tend to grey matters. The paper traces the normalisation of menopause policies in workplaces and universities, following the social trending and capitalisation of menopausal and ageing matters. We question what menopause policies do and argue they constitute a failed project for the advancement of gender equality and …


Targeting Histone Deacetylase 6 (Hdac6) To Enhance Radiation Therapy In Meningiomas In A 2d And 3d In Vitro Study, Juri Na, Shahana Shaji, C. Oliver Hanemann Jul 2024

Targeting Histone Deacetylase 6 (Hdac6) To Enhance Radiation Therapy In Meningiomas In A 2d And 3d In Vitro Study, Juri Na, Shahana Shaji, C. Oliver Hanemann

Peninsula Medical School

Background: External radiation therapy (RT) is often a primary treatment for inoperable meningiomas in the absence of established chemotherapy. Histone deacetylase 6 (HDAC6) overexpression, commonly found in cancer, is acknowledged as a driver of cellular growth, and inhibiting HDACs holds promise in improving radiotherapeutic efficacy. Downregulation of HDAC6 facilitates the degradation of β-catenin. This protein is a key element in the Wnt/β-catenin signalling pathway, contributing to the progression of meningiomas. Methods: In order to elucidate the associations and therapeutic potential of HDAC6 inhibitors (HDAC6i) in conjunction with RT, we administered Cay10603, HDAC6i, to both immortalised and patient-derived meningioma cells prior …


Chemical Analysis Of Flotsam Ambergris, Steven J. Rowland, Paul A. Sutton, C. Anthony Lewis, Timothy Knowles, Michael J. Wilde, Filipe Alves, Robert Clough Jul 2024

Chemical Analysis Of Flotsam Ambergris, Steven J. Rowland, Paul A. Sutton, C. Anthony Lewis, Timothy Knowles, Michael J. Wilde, Filipe Alves, Robert Clough

School of Geography, Earth and Environmental Sciences

The natural product ambergris is only found rarely on beaches, as jetsam. Even more scarce, or even absent, are accounts of flotsam ambergris. Here, we report the chemical analysis of a rare, large piece (>100kg) of flotsam found in the Atlantic in 2019. About 95% of subsamples from the outside of the coprolith was soluble in dichloromethane. Of this, FTIR spectroscopy, APCI-MS and GC-MS indicated the presence of ambrein. Radiocarbon dating indicated that the sample was post 1950s in age. The 13C/12C isotope ratio (−22.5 ‰) was typical of those reported to date for whale ‘body’ …


Implementation, Evolution, And Laboratory Performance Of Methods-Based Proficiency Testing For Next-Generation Sequencing Detection Of Germline Sequence Variants, Avni Santani, Rhona J Souers, Szabolcs Szelinger, Jaimie Halley, Qin Zhao, Nicole Mot, Angshumoy Roy, Vanessa L Smith, Bing M Zhang, Karl Voelkerding, Ann M Moyer Jul 2024

Implementation, Evolution, And Laboratory Performance Of Methods-Based Proficiency Testing For Next-Generation Sequencing Detection Of Germline Sequence Variants, Avni Santani, Rhona J Souers, Szabolcs Szelinger, Jaimie Halley, Qin Zhao, Nicole Mot, Angshumoy Roy, Vanessa L Smith, Bing M Zhang, Karl Voelkerding, Ann M Moyer

Faculty, Staff and Students Publications

Context.—: Next-generation sequencing (NGS)-based assays are used for diagnosis of diverse inherited disorders. Limited data are available pertaining to interlaboratory analytical performance of these assays.

Objective.—: To report on the College of American Pathologists (CAP) NGS Germline Program, which is methods based, and explore the evolution in laboratory testing practices.

Design.—: Results from the NGS Germline Program from 2016-2020 were analyzed for interlaboratory analytical performance. Self-reported laboratory testing practices were also evaluated.

Results.—: From 2016-2020, a total of 297 laboratories participated in at least 1 program mailing. Of the 289 laboratories that provided information on tests offered, 138 (47.8%) offered …


Response To: “Quantifying The Effect Of Vaccination On Transmission In Modelling Studies”, Maria Elena Bottazzi, Bruce Y Lee Jul 2024

Response To: “Quantifying The Effect Of Vaccination On Transmission In Modelling Studies”, Maria Elena Bottazzi, Bruce Y Lee

Faculty, Staff and Students Publications

No abstract provided.


Exome Sequencing Identifies Novel Genes Underlying Primary Congenital Glaucoma In The National Birth Defects Prevention Study, Tania A Desrosiers, Suzan L Carmichael, Janson J White, Jessica X Chong, Michael J Bamshad, Mary M Jenkins, Lynn M Almli, Lawrence C Brody, Sharon F Freedman, Jennita Reefhuis, Paul A Romitti, Gary M Shaw, Martha Werler, Denise M Kay, Marilyn L Browne, Marcia L Feldkamp, Richard H Finnell, Wendy N Nembhard, Faith Pangilinan, Andrew F Olshan, National Institutes Of Health Intramural Sequencing Center, University Of Washington Center For Mendelian Genomics, National Birth Defects Prevention Study Jul 2024

Exome Sequencing Identifies Novel Genes Underlying Primary Congenital Glaucoma In The National Birth Defects Prevention Study, Tania A Desrosiers, Suzan L Carmichael, Janson J White, Jessica X Chong, Michael J Bamshad, Mary M Jenkins, Lynn M Almli, Lawrence C Brody, Sharon F Freedman, Jennita Reefhuis, Paul A Romitti, Gary M Shaw, Martha Werler, Denise M Kay, Marilyn L Browne, Marcia L Feldkamp, Richard H Finnell, Wendy N Nembhard, Faith Pangilinan, Andrew F Olshan, National Institutes Of Health Intramural Sequencing Center, University Of Washington Center For Mendelian Genomics, National Birth Defects Prevention Study

Faculty, Staff and Students Publications

Background: Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants.

Methods: We studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention …


The Role Of Sleep In Cardiovascular Disease, Christine M Park, Virend K Somers, Michael D Shapiro, Carl J Lavie, Salim S Virani, Leandro Slipczuk Jul 2024

The Role Of Sleep In Cardiovascular Disease, Christine M Park, Virend K Somers, Michael D Shapiro, Carl J Lavie, Salim S Virani, Leandro Slipczuk

Faculty, Staff and Students Publications

Purpose of review: Sleep is an important component of cardiovascular (CV) health. This review summarizes the complex relationship between sleep and CV disease (CVD). Additionally, we describe the data supporting the treatment of sleep disturbances in preventing and treating CVD.

Recent findings: Recent guidelines recommend screening for obstructive sleep apnea in patients with atrial fibrillation. New data continues to demonstrate the importance of sleep quality and duration for CV health. There is a complex bidirectional relationship between sleep health and CVD. Sleep disturbances have systemic effects that contribute to the development of CVD, including hypertension, coronary artery disease, heart failure, …


Thrombosis Risk Prediction In Lymphoma Patients: A Multi-Institutional, Retrospective Model Development And Validation Study, Danielle Guffey, Raka Bandyo, Giordana De Las Pozas, Katy Hanzelka, Xiangjun Xiao, Cristhiam M Rojas-Hernandez, Christopher I Amos, Vipul Chitalia, Katya Ravid, Kelly W Merriman, Christopher R Flowers, Nathanael Fillmore, Ang Li Jul 2024

Thrombosis Risk Prediction In Lymphoma Patients: A Multi-Institutional, Retrospective Model Development And Validation Study, Danielle Guffey, Raka Bandyo, Giordana De Las Pozas, Katy Hanzelka, Xiangjun Xiao, Cristhiam M Rojas-Hernandez, Christopher I Amos, Vipul Chitalia, Katya Ravid, Kelly W Merriman, Christopher R Flowers, Nathanael Fillmore, Ang Li

Faculty, Staff and Students Publications

Venous thromboembolism (VTE) poses a significant risk to cancer patients receiving systemic therapy. The generalizability of pan-cancer models to lymphomas is limited. Currently, there are no reliable risk prediction models for thrombosis in patients with lymphoma. Our objective was to create a risk assessment model (RAM) specifically for lymphomas. We performed a retrospective cohort study to develop Fine and Gray sub-distribution hazard model for VTE and pulmonary embolism (PE)/ lower extremity deep vein thrombosis (LE-DVT) respectively in adult lymphoma patients from the Veterans Affairs national healthcare system (VA). External validations were performed at the Harris Health System (HHS) and the …


Pregnancy Outcomes Of Nifedipine Compared With Labetalol For Oral Treatment Of Mild Chronic Hypertension, Lorraine Dugoff, Baha Sibai, Kirsten Lawrence, Brenna L Hughes, Joseph Bell, Kjersti Aagaard, Rodney K Edwards, Kelly S Gibson, David M Haas, Lauren Plante, Torri D Metz, Brian Casey, Sean Esplin, Sherri Longo, Matthew K Hoffman, George R Saade, Kara K Hoppe, Janelle Foroutan, Methodius Tuuli, Michelle Y Owens, Hyagriv N Simhan, Heather Frey, Todd Rosen, Anna Palatnik, Susan Baker, Phyllis August, Uma M Reddy, Emily J Su, Iris Krishna, Nguyet A Nguyen, Mary E Norton, Daniel Skupski, Yasser Y El-Sayed, Dotun Ogunyemi, Zorina S Galis, Lorie Harper, Namasivayam Ambalavanan, Nancy L Geller, Hui-Chien Kuo, Rachel G Sinkey, Ronald Librizzi, Leonardo Pereira, Everett F Magann, Mounira Habli, Shauna Williams, Giancarlo Mari, Gabriella Pridjian, David S Mckenna, Marc Parrish, Eugene Chang, Sarah Osmundson, Joanne Quinones, Jeff M Szychowski, Alan T N Tita Jul 2024

Pregnancy Outcomes Of Nifedipine Compared With Labetalol For Oral Treatment Of Mild Chronic Hypertension, Lorraine Dugoff, Baha Sibai, Kirsten Lawrence, Brenna L Hughes, Joseph Bell, Kjersti Aagaard, Rodney K Edwards, Kelly S Gibson, David M Haas, Lauren Plante, Torri D Metz, Brian Casey, Sean Esplin, Sherri Longo, Matthew K Hoffman, George R Saade, Kara K Hoppe, Janelle Foroutan, Methodius Tuuli, Michelle Y Owens, Hyagriv N Simhan, Heather Frey, Todd Rosen, Anna Palatnik, Susan Baker, Phyllis August, Uma M Reddy, Emily J Su, Iris Krishna, Nguyet A Nguyen, Mary E Norton, Daniel Skupski, Yasser Y El-Sayed, Dotun Ogunyemi, Zorina S Galis, Lorie Harper, Namasivayam Ambalavanan, Nancy L Geller, Hui-Chien Kuo, Rachel G Sinkey, Ronald Librizzi, Leonardo Pereira, Everett F Magann, Mounira Habli, Shauna Williams, Giancarlo Mari, Gabriella Pridjian, David S Mckenna, Marc Parrish, Eugene Chang, Sarah Osmundson, Joanne Quinones, Jeff M Szychowski, Alan T N Tita

Faculty, Staff and Students Publications

Objective: To evaluate maternal and neonatal outcomes by type of antihypertensive used in participants of the CHAP (Chronic Hypertension in Pregnancy) trial.

Methods: We conducted a planned secondary analysis of CHAP, an open-label, multicenter, randomized trial of antihypertensive treatment compared with standard care (no treatment unless severe hypertension developed) in pregnant patients with mild chronic hypertension (blood pressure 140-159/90-104 mm Hg before 20 weeks of gestation) and singleton pregnancies. We performed three comparisons based on medications prescribed at enrollment: labetalol compared with standard care, nifedipine compared with standard care, and labetalol compared with nifedipine. Although active compared with standard care …


Association Of Hiv Status And Other Minoritized Identities With Psychiatric Diagnoses Among Transgender And Gender Diverse Individuals In The All Of Us Research Program, Fanghui Shi Jul 2024

Association Of Hiv Status And Other Minoritized Identities With Psychiatric Diagnoses Among Transgender And Gender Diverse Individuals In The All Of Us Research Program, Fanghui Shi

Theses and Dissertations

Background: Transgender and gender diverse (TGD) people, whose gender identities or expressions differ from the sex assigned at birth, are disproportionately affected by adverse health outcomes, including various psychiatric diagnoses such as depression, anxiety, stress, and substance use disorders. The Gender Minority Stress Model emphasizes that TGD people face both proximal stressors at a personal/individual level (e.g., internalized stigma) and distal stressors at a societal level (e.g., discrimination) due to their minority status, which largely contributes to their increased risk of psychiatric diagnoses. Despite these health disparities, there is a paucity of gender identity data collected in large population-based health …


Recommendations On Monitoring And Replacement Of Antithrombin, Fibrinogen, And Von Willebrand Factor In Pediatric Patients On Extracorporeal Membrane Oxygenation: The Pediatric Extracorporeal Membrane Oxygenation Anticoagulation Collaborative Consensus Conference, Lisa Baumann Kreuziger, Leslie Raffini, Jennifer A Muszynski, Peta M A Alexander, Alison Gehred, Elizabeth Lyman, Kevin Watt Jul 2024

Recommendations On Monitoring And Replacement Of Antithrombin, Fibrinogen, And Von Willebrand Factor In Pediatric Patients On Extracorporeal Membrane Oxygenation: The Pediatric Extracorporeal Membrane Oxygenation Anticoagulation Collaborative Consensus Conference, Lisa Baumann Kreuziger, Leslie Raffini, Jennifer A Muszynski, Peta M A Alexander, Alison Gehred, Elizabeth Lyman, Kevin Watt

Faculty, Staff and Students Publications

OBJECTIVES: To derive systematic review informed, modified Delphi consensus regarding monitoring and replacement of specific coagulation factors during pediatric extracorporeal membrane oxygenation (ECMO) support for the Pediatric ECMO Anticoagulation CollaborativE.

DATA SOURCES: A structured literature search was performed using PubMed, Embase, and Cochrane Library (CENTRAL) databases from January 1988 to May 2020, with an update in May 2021.

STUDY SELECTION: Included studies assessed monitoring and replacement of antithrombin, fibrinogen, and von Willebrand factor in pediatric ECMO support.

DATA EXTRACTION: Two authors reviewed all citations independently, with conflicts resolved by a third reviewer if required. Twenty-nine references were used for data …