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Articles 691 - 720 of 42147
Full-Text Articles in Entire DC Network
Genetic Ancestry-Concordant Ceramide Metabolism And Response To Androgen Receptor Pathway Inhibition In Metastatic Castration-Resistant Prostate Cancer, Sean Piwarski, Lauren Howard, Morgan Paul, Nick Bachelder, Bonnie Lacroix, Angela Clayton, Donna Allen, Julie Kephart, Andrew Armstrong, Steven Patierno, Daniel George, Terry Hyslop, Jennifer Freedman
Genetic Ancestry-Concordant Ceramide Metabolism And Response To Androgen Receptor Pathway Inhibition In Metastatic Castration-Resistant Prostate Cancer, Sean Piwarski, Lauren Howard, Morgan Paul, Nick Bachelder, Bonnie Lacroix, Angela Clayton, Donna Allen, Julie Kephart, Andrew Armstrong, Steven Patierno, Daniel George, Terry Hyslop, Jennifer Freedman
Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers
BACKGROUND: The authors observed differences in response between Black and White patients with metastatic castration-resistant prostate cancer (mCRPC) who were treated prospectively with androgen receptor pathway inhibition (ARPI) in the Abi Race and PANTHER studies. In addition, genetic ancestry-related single nucleotide variants in ceramide metabolism genes were associated with the time to prostate-specific antigen progression in the Abi Race study. For this report, the authors analyzed ceramide metabolites and their association with response to ARPI treatment in the Abi Race and PANTHER studies.
METHODS: Fasting serum levels were obtained from 22 Black patients and 22 White patients in the Abi …
Prevalence Of Smoking In Patients With Seizures: Epilepsy Vs. Psychogenic Nonepileptic Seizures, Ali A. Asadi-Pooya, Mohsen Farazdaghi, Nafiseh Mirzaei Damabi, Ava Asadi-Pooya, Nayyereh Akbari, Amir Rezaei
Prevalence Of Smoking In Patients With Seizures: Epilepsy Vs. Psychogenic Nonepileptic Seizures, Ali A. Asadi-Pooya, Mohsen Farazdaghi, Nafiseh Mirzaei Damabi, Ava Asadi-Pooya, Nayyereh Akbari, Amir Rezaei
Department of Neurology Faculty Papers
Objective: Smoking is the second most significant cause of early death and disability worldwide. Considering existing clinical and psychological differences between patients with epilepsy and psychogenic nonepileptic seizures (PNES), it was assumed that these 2 groups of patients vary in their rates of smoking. This retrospective study was based on an electronic dataset of patients with seizures. Methods: All patients aged 20 years or older were surveyed at the outpatient epilepsy clinic of Shiraz University of Medical Sciences in Shiraz, Iran, between 2008 and 2020. Age at seizure onset, sex, and the final diagnosis were entered into the database for …
Systemic And Metabolic Control Of Liver Regeneration, Lingzhi Hong, Alessandro Di Federico, Bolun Liu, Alissa J Cooper, Joao V Alessi, Phoebe Clark, Waree Rinsurongkawong, Chingyi Young, Hui Li, Kang Qin, Muhammad Aminu, Valentina Santo, Yasir Elamin, Boris Sepesi, Jeff Lewis, Don L Gibbons, Ara A Vaporciyan, J Jack Lee, Xiuning Le, Jia Wu, Sinchita Roy-Chowdhuri, Mark J Routbort, P Andrew Futreal, John V Heymach, Mark M Awad, Adam J Schoenfeld, Jianjun Zhang, Biagio Ricciuti, Lei Deng, Natalie I Vokes
Systemic And Metabolic Control Of Liver Regeneration, Lingzhi Hong, Alessandro Di Federico, Bolun Liu, Alissa J Cooper, Joao V Alessi, Phoebe Clark, Waree Rinsurongkawong, Chingyi Young, Hui Li, Kang Qin, Muhammad Aminu, Valentina Santo, Yasir Elamin, Boris Sepesi, Jeff Lewis, Don L Gibbons, Ara A Vaporciyan, J Jack Lee, Xiuning Le, Jia Wu, Sinchita Roy-Chowdhuri, Mark J Routbort, P Andrew Futreal, John V Heymach, Mark M Awad, Adam J Schoenfeld, Jianjun Zhang, Biagio Ricciuti, Lei Deng, Natalie I Vokes
Faculty, Staff and Student Publications
The liver possesses a unique regenerative capacity, driven by mechanisms that extend beyond classical growth factor signaling. Recent studies underscore the importance of metabolic reprogramming, mitochondrial adaptation, and signaling metabolites in promoting tissue injury repair. Dynamic crosstalk between hepatocytes, non-parenchymal cells, and other organs governs the regenerative process. Spatial compartmentalization within the liver and systemic cues from adipose tissue, the pancreas, the gut, the brain, skeletal muscle, and other organs play critical roles in shaping regenerative outcomes. In this review we discuss how the liver's tissue microenvironment and inter-organ communication networks regulate liver regeneration, providing new insights into the complex …
Prognostic Value Of Stress Perfusion Cardiac Magnetic Resonance Imaging In Kawasaki Disease With Coronary Artery Aneurysms: A 10-Year Retrospective Cohort Study, Alexander J Kiener, S Kristen Sexson Tejtel, Aimee Liou, Carolyn A Altman, Tam T Doan
Prognostic Value Of Stress Perfusion Cardiac Magnetic Resonance Imaging In Kawasaki Disease With Coronary Artery Aneurysms: A 10-Year Retrospective Cohort Study, Alexander J Kiener, S Kristen Sexson Tejtel, Aimee Liou, Carolyn A Altman, Tam T Doan
Faculty, Staff and Students Publications
Background: Kawasaki disease (KD) with coronary artery aneurysms (CAA) places patients at risk for myocardial ischemia and major cardiac events (MCE). While stress perfusion cardiac magnetic resonance imaging (spCMR) is used for surveillance, its prognostic value has not been established.
Methods: We conducted a retrospective cohort study of KD patients (AHA risk levels 3-5) who underwent clinically indicated vasodilator spCMR at a tertiary pediatric center between October 2014 and December 2024. We evaluated inducible perfusion defects, late gadolinium enhancement (LGE), ventricular function, and MCE (myocardial infarction, ventricular dysfunction, arrhythmia, revascularization, transplant, or death). We performed Cox regression and Kaplan-Meier analyses …
How To … Coach Problem Representation To Strengthen Diagnostic Reasoning In Trainees, Cody Clary, Adam Cohen, Satid Thammasitboon
How To … Coach Problem Representation To Strengthen Diagnostic Reasoning In Trainees, Cody Clary, Adam Cohen, Satid Thammasitboon
Faculty, Staff and Students Publications
Problem representation (PR) is a concise synthesis of clinical information that captures the core diagnostic problem in a single statement, often referred to as a 'one-liner'. Although central to diagnostic reasoning, this skill is frequently underdeveloped in medical training. Many trainees struggle to transform clinical data into meaningful representations, which can hinder communication, diagnostic reasoning and patient safety. The Assessment of Reasoning Tool-Reconstructed (ART-R) provides a structured framework that educators can adapt as a coaching rubric to strengthen PR during clinical teaching. Using the ART-R, faculty can guide trainees to refine their PR by focusing on three elements: (1) clarity …
Anterior Cutaneous Nerve Entrapment Syndrome From Glucagon-Like Peptide-1 Receptor Agonist Injection, Neha Singh, Elisa Chaparro, Jordan Michael Shapiro, Emanuel Narcis Husu
Anterior Cutaneous Nerve Entrapment Syndrome From Glucagon-Like Peptide-1 Receptor Agonist Injection, Neha Singh, Elisa Chaparro, Jordan Michael Shapiro, Emanuel Narcis Husu
Faculty, Staff and Students Publications
Anterior cutaneous nerve entrapment syndrome (ACNES) is an underdiagnosed cause of abdominal pain. We report the first documented ACNES case following subcutaneous administration of glucagon-like peptide-1 receptor agonist. A 44-year-old man developed focal, neuropathic abdominal pain coinciding with initiation of tirzepatide injections. Clinical examination confirmed ACNES diagnosis, and pain improved after relocating injections away from the abdomen and initiating multimodal pharmacotherapy. This case emphasizes the need to consider ACNES in patients endorsing focal abdominal pain with concurrent use of glucagon-like peptide-1 therapy and highlights injection site modification as a simple, effective management strategy while exercising self-restraint with respect to workup.
Letter To The Editor Regarding “Questionable Indication For Postoperative Radiotherapy After Surgery For Metastases Of The Major Long Bones”: A Cautionary Note On Methodology And Analysis, Shing Fung Lee, Joel A Finkelstein, Peter J Hoskin, Dirk Rades, Eva Oldenburger, Tracy A Balboni, Daniel E Roos, Hans Kreder, Eric L Chang, Samuel Ryu, Amal Khoury, Kristopher Dennis, Candice Johnstone, Sara R Alcorn, Charles B Simone, Stephanie Brown, Jonas Willmann, Joanne M Van Der Velden, Mateusz Spałek, Yvette M Van Der Linden, Joanna Kazmierska, Nicolaus Andratschke, Emily J Martin, Michael Chao, Hany Soliman, Kenny Kwan, Raymond C H Yau, Shengji Yu, Zhenfeng Li, Albert Yee, Ningning Lu, Xinxin Zhang, Gavin P Jones, W L Chan, Adrian W Chan, Chung Ming Chan, Agata Rembielak, Gustavo N Marta, Vassilios Vassiliou, Saverio Caini, Edward Chow, Henry C Y Wong
Letter To The Editor Regarding “Questionable Indication For Postoperative Radiotherapy After Surgery For Metastases Of The Major Long Bones”: A Cautionary Note On Methodology And Analysis, Shing Fung Lee, Joel A Finkelstein, Peter J Hoskin, Dirk Rades, Eva Oldenburger, Tracy A Balboni, Daniel E Roos, Hans Kreder, Eric L Chang, Samuel Ryu, Amal Khoury, Kristopher Dennis, Candice Johnstone, Sara R Alcorn, Charles B Simone, Stephanie Brown, Jonas Willmann, Joanne M Van Der Velden, Mateusz Spałek, Yvette M Van Der Linden, Joanna Kazmierska, Nicolaus Andratschke, Emily J Martin, Michael Chao, Hany Soliman, Kenny Kwan, Raymond C H Yau, Shengji Yu, Zhenfeng Li, Albert Yee, Ningning Lu, Xinxin Zhang, Gavin P Jones, W L Chan, Adrian W Chan, Chung Ming Chan, Agata Rembielak, Gustavo N Marta, Vassilios Vassiliou, Saverio Caini, Edward Chow, Henry C Y Wong
Faculty, Staff and Students Publications
No abstract provided.
Systematic Identification Of Cell-Cell Interactions Associated With The Severity Of Patients With Alzheimer’S Disease, Zijian Zhang, Naail Chowdhury, Jing Dong, Lang Wu, Chao Cheng
Systematic Identification Of Cell-Cell Interactions Associated With The Severity Of Patients With Alzheimer’S Disease, Zijian Zhang, Naail Chowdhury, Jing Dong, Lang Wu, Chao Cheng
Faculty, Staff and Students Publications
Background
Alzheimer's disease (AD) is a complex, multifactorial neurodegenerative disorder involving dysfunction across multiple brain regions. While accumulating evidence has implicated the roles of diverse cell types, including neurons, glia, and vascular cells in AD pathogenesis, it is still poorly understood how cell type interactions drive or respond to the disease progression and severity.
Objective
This study aimed to systematically characterize cell-type–specific alterations and intercellular communication changes associated with AD progression.
Methods
We leveraged the transcriptome profiling and a previously established statistical framework to present a comprehensive mapping of the cellular interaction landscape in the human brain of AD.
Results …
Barrett’S Esophagus-Associated Genetic Loci In African Americans: A Case-Control Study Using The All Of Us Research Program, Ashwin Rao, Jinyoung Byun, Aaron P Thrift, Hashem B El-Serag
Barrett’S Esophagus-Associated Genetic Loci In African Americans: A Case-Control Study Using The All Of Us Research Program, Ashwin Rao, Jinyoung Byun, Aaron P Thrift, Hashem B El-Serag
Faculty, Staff and Students Publications
Background and aims: Barrett's esophagus is the only known precursor lesion to esophageal adenocarcinoma (EAC). Barrett's esophagus and EAC are less common in African Americans than in non-Hispanic Whites. Studies in European populations have identified Barrett's esophagus-associated risk loci; however, none have examined loci in African Americans cohorts. We conducted a case-control targeted replication study to investigate previously identified Barrett's esophagus risk loci in an African Americans cohort in the All of Us (AoU) Research Program.
Methods: We abstracted phenomic and genomic data from 108 African Americans with Barrett's esophagus and 778 African Americans controls in the AoU database. We …
Association Of Infection Frequency And Incident Clonal Hematopoiesis Of Indeterminant Potential, Ajibike Lapite, Vernon A Burk, James Decuir, Junichi Ishigami, Seyedmohammad Saadatagah, Pradeep Natarajan, Christie M Ballantyne, Elizabeth A Platz, Katherine Y King
Association Of Infection Frequency And Incident Clonal Hematopoiesis Of Indeterminant Potential, Ajibike Lapite, Vernon A Burk, James Decuir, Junichi Ishigami, Seyedmohammad Saadatagah, Pradeep Natarajan, Christie M Ballantyne, Elizabeth A Platz, Katherine Y King
Faculty, Staff and Students Publications
Clonal hematopoiesis of indeterminant potential (CHIP) is an age-related phenomenon associated with increased risk of hematologic malignancy. Preclinical studies have shown that infection is a driver of CHIP; clinical studies in people living with HIV suggest a relationship between chronic infection and CHIP, but the association between infection frequency and incident CHIP in the general population remains unknown. We leveraged the atherosclerosis risk in communities study to design a closed prospective cohort study. CHIP was determined based on whole-exome sequencing at 2 time points 20 years apart. Included were 3,367 individuals without cancer or CHIP at time 1 and without …
Use Of Plozasiran Across A Spectrum Of Hypertriglyceridemia: Long-Term Efficacy And Safety Data From The Open-Label Extension Period Of Shasta-2 And Muir Trials, Christie M Ballantyne, Alexis Baass, Robert S Rosenson, Robert A Hegele, Stephen J Nicholls, Szilard Vasas, Peter Clifton, Kathryn J Lucas, Denes Pall, Rong Zhou, Nicholas J Leeper, Jennifer Hellawell, Lalitha Aiyer, Gerald F Watts, Daniel Gaudet
Use Of Plozasiran Across A Spectrum Of Hypertriglyceridemia: Long-Term Efficacy And Safety Data From The Open-Label Extension Period Of Shasta-2 And Muir Trials, Christie M Ballantyne, Alexis Baass, Robert S Rosenson, Robert A Hegele, Stephen J Nicholls, Szilard Vasas, Peter Clifton, Kathryn J Lucas, Denes Pall, Rong Zhou, Nicholas J Leeper, Jennifer Hellawell, Lalitha Aiyer, Gerald F Watts, Daniel Gaudet
Faculty, Staff and Students Publications
Background: Plozasiran, a hepatocyte-targeted siRNA against apolipoprotein C-III, has demonstrated substantial reductions in triglycerides (TGs) and related atherogenic lipoproteins across a spectrum of hypertriglyceridemia (HTG), leading to its approval for familial chylomicronemia syndrome in the United States, and subsequently in Canada and China. Long-term data suggest maintenance of these effects beyond the blinded treatment periods, supporting further evaluation of plozasiran across a broad spectrum of HTG.
Methods: Safety and efficacy were assessed in this open-label extension (OLE) of two phase 2b, randomized, double-blind trials, SHASTA-2 (n = 229) including patients with severe HTG (TG >500 mg/dL) and MUIR ( …
Disrupting Clinical Inertia: Personalizing Cardiovascular Risk To Transform Cardiometabolic Care In The Real World, Layla A Abushamat, Jane E B Reusch, Christie M Ballantyne
Disrupting Clinical Inertia: Personalizing Cardiovascular Risk To Transform Cardiometabolic Care In The Real World, Layla A Abushamat, Jane E B Reusch, Christie M Ballantyne
Faculty, Staff and Students Publications
No abstract provided.
Mindful Self-Compassion To Reduce Pain Interference Among Adults With Osteogenesis Imperfecta, Amena Sediqi, Roya Al-Khalili, Saunya Dover, Corien Peeters, Adam Khalif, V Reid Sutton, Frank Rauch, Brendan Lee, Eric A Storch, Marie-Eve Robinson
Mindful Self-Compassion To Reduce Pain Interference Among Adults With Osteogenesis Imperfecta, Amena Sediqi, Roya Al-Khalili, Saunya Dover, Corien Peeters, Adam Khalif, V Reid Sutton, Frank Rauch, Brendan Lee, Eric A Storch, Marie-Eve Robinson
Faculty, Staff and Students Publications
Between 60 and 80% of adults with osteogenesis imperfecta (OI) experience chronic pain and associated interference. Currently available pain therapies often provide marginal efficacy. Mindful self-compassion (MSC) has emerged as a promising intervention for coping with chronic pain. We conducted a single-center 8-week pilot intervention study to assess the feasibility and acceptability of a MSC program among adults with OI and co-occurring chronic pain. Individuals attended the validated MSC course consisting of 8 weekly virtual 2-h sessions. Participants completed a battery of validated questionnaires assessing pain, various aspects of well-being, and physical function at baseline and post-intervention. Participants wore the …
Functional Genomics Studies Of Psychiatric Disorders In Individuals Of Latin American Populations: A Scoping Review, Luz M Porras, Isabelle Rodríguez-Lausell, Gabriel Iglesias-Maldonado, Emily Val F Tuliao, Gabriela Martínez, Chelsey Leveque, Julian Tobon, Rachel Eloy, Sintia Belangero, Cynthia M Bulik, Camila M Loureiro, Carolina Muniz Carvalho, Vanessa Ota, Diego Luiz Rovaris, Eric A Storch, Eva Maria Trujillo-Chi Vacuan, Maria M Velasquez, Latin American Genomics Consortium, Marcos L Santoro, Humberto Nicolini, Elizabeth G Atkinson, Janitza L Montalvo-Ortiz, Paola Giusti-Rodríguez
Functional Genomics Studies Of Psychiatric Disorders In Individuals Of Latin American Populations: A Scoping Review, Luz M Porras, Isabelle Rodríguez-Lausell, Gabriel Iglesias-Maldonado, Emily Val F Tuliao, Gabriela Martínez, Chelsey Leveque, Julian Tobon, Rachel Eloy, Sintia Belangero, Cynthia M Bulik, Camila M Loureiro, Carolina Muniz Carvalho, Vanessa Ota, Diego Luiz Rovaris, Eric A Storch, Eva Maria Trujillo-Chi Vacuan, Maria M Velasquez, Latin American Genomics Consortium, Marcos L Santoro, Humberto Nicolini, Elizabeth G Atkinson, Janitza L Montalvo-Ortiz, Paola Giusti-Rodríguez
Faculty, Staff and Students Publications
Over the past 15 years, genetic studies of psychiatric disorders have provided important insight into the contribution of both common variants of small effect, as well as rare exonic and copy number variants with large effect sizes. Genome-wide association studies (GWAS) allow us to understand the intricate polygenicity characteristic of many psychiatric disorders. However, a considerable proportion of single nucleotide polymorphisms (SNPs) implicated in these disorders localize to the non-coding regions of the genome. Unraveling the molecular mechanisms that underlie the etiology of psychiatric illnesses requires integration using functional genomics approaches. Functional genomics methods are critical for developing a mechanistic …
Whole Genome Sequencing Analysis Of Over 3500 Individuals Dementia-Free Over 85 Years Old, Gina M Peloso, Dongyu Wang, Sabrina M Abbruzzese, Joshua C Bis, Seung Hoan Choi, Alexa Beiser, Jan Bressler, Josée Dupuis, Alison E Fohner, Mohsen Ghanbari, Richard A Gibbs, Nancy Heard-Costa, M Arfan Ikram, Paul Lacaze, Quentin Le Grand, Oscar L Lopez, Thomas H Mosley, Moeen Riaz, Aïcha Soumaré, Amber Yaqub, Eric Boerwinkle, Bruce M Psaty, Myriam Fornage, Sudha Seshadri, Anita L Destefano
Whole Genome Sequencing Analysis Of Over 3500 Individuals Dementia-Free Over 85 Years Old, Gina M Peloso, Dongyu Wang, Sabrina M Abbruzzese, Joshua C Bis, Seung Hoan Choi, Alexa Beiser, Jan Bressler, Josée Dupuis, Alison E Fohner, Mohsen Ghanbari, Richard A Gibbs, Nancy Heard-Costa, M Arfan Ikram, Paul Lacaze, Quentin Le Grand, Oscar L Lopez, Thomas H Mosley, Moeen Riaz, Aïcha Soumaré, Amber Yaqub, Eric Boerwinkle, Bruce M Psaty, Myriam Fornage, Sudha Seshadri, Anita L Destefano
Faculty, Staff and Students Publications
BACKGROUND:
Identifying genetic variants conferring resilience to Alzheimer’s disease and related dementia (ADRD) may hold promise for developing therapeutics.
OBJECTIVE:
To determine genetic associations with being dementia-free at age 85 (DF85).
METHODS:
We examined genetic associations, using whole genome sequencing data, with DF85 in three Trans-Omics for Precision Medicine cohorts and the Alzheimer’s Disease Sequencing Project Phenotype Harmonization Consortium. We tested common variants individually and aggregation of rare (MAF≤1%) coding and non-coding variants in DF85 participants (n=3,657) against individuals who were not DF85 (n=20,010). We verified associations using a stricter control set who developed dementia before age 85 (n=5,552).
RESULTS: …
Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth
Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth
Faculty, Staff and Students Publications
Consciousness is a fundamental component of cognition1, but the degree to which higher-order pattern recognition relies on it remains disputed2,3. Here we demonstrate the persistence of oddball discrimination, semantic processing and online prediction in individuals under general-anaesthesia-induced loss of consciousness4,5. Using high-density Neuropixels microelectrodes6 to record both single-unit and local-field-potential neural activity in the human hippocampus while playing a series of tones to anaesthetized patients, we found that hippocampal neurons and local oscillations retained some detection of oddball tones. This effect size grew over the course of the experiment …
Ilae-Yes Global Webinar Series: Integrating Clinical And Basic Science In Epilepsy Research, Cecilie G Nome, Parthvi Ravat, Fabrice Bartolomei, Marco De Curtis, Rossella Di Sapia, Marian Galovic, Maria Gogou, Lukas Imbach, Julia Jacobs, Katja Kobow, Alice D Lam, Christos Panagiotis Lisgaras, Elisa Micalizzi, Eleni Nikalexi, Jeffrey L Noebels, Jeanne T Paz, Avtar Singh Roopra, Sally Shaaban, Laurent Sheybani, Shobi Sivathamboo, Ana Suller Marti, Adam Williamson, Naoto Kuroda
Ilae-Yes Global Webinar Series: Integrating Clinical And Basic Science In Epilepsy Research, Cecilie G Nome, Parthvi Ravat, Fabrice Bartolomei, Marco De Curtis, Rossella Di Sapia, Marian Galovic, Maria Gogou, Lukas Imbach, Julia Jacobs, Katja Kobow, Alice D Lam, Christos Panagiotis Lisgaras, Elisa Micalizzi, Eleni Nikalexi, Jeffrey L Noebels, Jeanne T Paz, Avtar Singh Roopra, Sally Shaaban, Laurent Sheybani, Shobi Sivathamboo, Ana Suller Marti, Adam Williamson, Naoto Kuroda
Faculty, Staff and Students Publications
Bridging clinical and basic research is increasingly recognized as a priority in the epilepsy field, yet opportunities for integration remain limited by the time, space, and financial constraints of scientific meetings. To address this gap, the Research Task Force of the Young Epilepsy Section of the International League Against Epilepsy (ILAE-YES) organized a free global webinar series designed to promote translational dialogue and provide accessible research education for early-career clinicians, researchers, and physician-scientists. Based on a preliminary ILAE-YES community survey, eight topics of high interest were selected: (1) epigenetics, (2) EEG biomarkers, (3) ictogenesis, (4) thalamo-cortical network, (5) sudden unexpected …
Treatment Of Hemifacial Spasm With Endovascular Stenting Of The Vertebral Artery, Maximillian Feygin, Marcus Shee-Tzer Wong, Andrew Zhang, Ashwin Viswanathan, Omar Tanweer
Treatment Of Hemifacial Spasm With Endovascular Stenting Of The Vertebral Artery, Maximillian Feygin, Marcus Shee-Tzer Wong, Andrew Zhang, Ashwin Viswanathan, Omar Tanweer
Faculty, Staff and Students Publications
Background and importance: Hemifacial spasm (HFS) is a movement disorder characterized by involuntary spasms of the facial muscles that can lead to debilitating symptoms and is typically caused by vascular compression. Classically, microvascular decompression of the offending vessel is the gold standard; however, in certain cases, microvascular decompression may have increased risk because of patient comorbidities and underlying anatomy. In this report, we describe a unique endovascular approach with flow diversion for the treatment of HFS.
Clinical presentation: A 70-year-old woman presented to the clinic with a 5-year history of HFS on the right side progressing from the eye to …
Fetal Instability And Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis Of 245 Fetal Cardiac And Spina Bifida Procedures, Claire A Naus, Betul Yilmaz Furtun, Jessian L Munoz, Rebecca M Johnson, Carolyn A Altman, Michael A Belfort, Luc Joyeux, Alice King, David G Mann, Shaine Morris, Athar M Qureshi, Magdalena Sanz Cortes, William E Whitehead, Caitlin D Sutton
Fetal Instability And Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis Of 245 Fetal Cardiac And Spina Bifida Procedures, Claire A Naus, Betul Yilmaz Furtun, Jessian L Munoz, Rebecca M Johnson, Carolyn A Altman, Michael A Belfort, Luc Joyeux, Alice King, David G Mann, Shaine Morris, Athar M Qureshi, Magdalena Sanz Cortes, William E Whitehead, Caitlin D Sutton
Faculty, Staff and Students Publications
Objective: The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management.
Methods: We reviewed all fetal atrial septal interventions (FASI) and fetoscopic myelomeningocele (fMMC) repairs with fetal instability performed at our institution between March 2012 and April 2025. We described and compared the frequency, timing, etiology, and management of fetal instability.
Results: During the study period, 28 unique patients underwent 35 FASI procedures, and 210 patients underwent fMMC repair. Fetal instability occurred in 51 of 245 cases (20.8%), with rates varying significantly by procedure type …
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy And Phenotypic Expansions, Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, Seema R Lalani, Daryl A Scott
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy And Phenotypic Expansions, Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, Seema R Lalani, Daryl A Scott
Faculty, Staff and Students Publications
Dandy-Walker malformation (DWM) is a rare congenital abnormality of the posterior fossa and the cerebellum and has an incidence of 1 in 10 000 to 30 000 births. Although DWM can present in isolation, it is often associated with other central nervous system (CNS) abnormalities or extra-CNS anomalies (DWM+). A molecular cause is not identified in the majority of individuals with DWM+. This is due, in part, to uncertainty regarding optimal testing strategies and an incomplete understanding of the genetic causes of DWM+. In this study, we analyzed clinical exome sequencing (cES) data from 91 individuals with DWM+ to determine …
Investigating The Correlation Between Scleral Spur Angle And Intraocular Lens Tilt, Dylan Mcbee, Karim Kozhaya, Li Wang, Douglas D Koch, Allison J Chen, Mitchell P Weikert
Investigating The Correlation Between Scleral Spur Angle And Intraocular Lens Tilt, Dylan Mcbee, Karim Kozhaya, Li Wang, Douglas D Koch, Allison J Chen, Mitchell P Weikert
Faculty, Staff and Students Publications
Purpose: To evaluate the correlation between the preoperative vertex-scleral spur angle (Vtx-SSA) and postoperative horizontal intraocular lens (IOL) tilt after routine cataract surgery.
Setting: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.
Design: Prospective case series.
Methods: This study enrolled patients who underwent uneventful phacoemulsification cataract extraction with IOL implantation. The Anterion and Eyestar 900 swept-source optical coherence tomographers (SS-OCTs) were used to determine Vtx-SSA and lens tilt (crystalline and IOL) measurements, respectively. Tilt vectors were decomposed into orthogonal, vertical, and horizontal components to explore preoperative correlations independently. The Pearson correlation coefficient and linear regression analysis were used to …
Matching-Adjusted Indirect Comparison Of Acoltremon Ophthalmic Solution 0.003% And Cyclosporine 0.05% Ophthalmic Emulsion For Increased Tear Production In Patients With Dry Eye Disease, Stephen Pflugfelder, Tony Okoro, Margaret Ainslie-Garcia, Anja Haltner, Emily K Prentiss, Elizabeth M Salvo-Halloran, Nikethana Srikanth, Michelle Senchyna, Esen K Akpek
Matching-Adjusted Indirect Comparison Of Acoltremon Ophthalmic Solution 0.003% And Cyclosporine 0.05% Ophthalmic Emulsion For Increased Tear Production In Patients With Dry Eye Disease, Stephen Pflugfelder, Tony Okoro, Margaret Ainslie-Garcia, Anja Haltner, Emily K Prentiss, Elizabeth M Salvo-Halloran, Nikethana Srikanth, Michelle Senchyna, Esen K Akpek
Faculty, Staff and Students Publications
No abstract provided.
A Trans-Omics Gene-Smoking Interaction Study Of Lung Cancer Based On Consortium Data, Ning Xie, Xiaowen Xu, Yanru Wang, Aoxuan Wang, Xiang Wang, Xuan Wang, Mengsheng Zhao, Jiacheng Zhou, Yongyue Wei, Manel Esteller, Zhibin Hu, Hongbing Shen, Rayjean J Hung, Christopher I Amos, Yi Li, David C Christiani, Feng Chen, Yang Zhao, Ruyang Zhang
A Trans-Omics Gene-Smoking Interaction Study Of Lung Cancer Based On Consortium Data, Ning Xie, Xiaowen Xu, Yanru Wang, Aoxuan Wang, Xiang Wang, Xuan Wang, Mengsheng Zhao, Jiacheng Zhou, Yongyue Wei, Manel Esteller, Zhibin Hu, Hongbing Shen, Rayjean J Hung, Christopher I Amos, Yi Li, David C Christiani, Feng Chen, Yang Zhao, Ruyang Zhang
Faculty, Staff and Students Publications
Rationale: Genetically predicted molecular traits provide a cost-effective approach for identifying biomarkers and uncovering underlying biological mechanisms. We extended this framework to investigate gene-smoking interactions in lung cancer susceptibility.
Objectives: To identify trans-omics gene-smoking interactions affecting lung cancer risk and to assess how biomarkers modify effect of smoking.
Methods: We conducted the first trans-omics gene-smoking interaction study of lung cancer by integrating consortium-scale individual genotype data (27 737 cases vs 449 910 noncases) from the International Lung Cancer OncoArray Consortium (ILCCO-OncoArray), Transdisciplinary Research Into Cancer of the Lung (TRICL), Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO), and the …
Steroid Receptor Coactivators In Immunity – From Function To Emerging Translational Opportunities, Yosef Gilad, David M Lonard
Steroid Receptor Coactivators In Immunity – From Function To Emerging Translational Opportunities, Yosef Gilad, David M Lonard
Faculty, Staff and Students Publications
Steroid Receptor Coactivators (SRCs) comprise a family of three paralogous proteins. As transcriptional coactivators SRCs are essential for enabling the full transcriptional output of nuclear receptors (NRs). They regulate the transcriptional activity of nearly all NRs as well as a wide range of non-NR transcription factors. The central role of SRCs in gene regulation is reflected in their broad impact on major physiological and pathological processes, such as development, reproduction, metabolism, immunity and cancer. Although the major impact of SRCs on human health and disease established them as attractive therapeutic targets, their effective pharmacological targeting remained a challenge for nearly …
Generation And Characterization Of Twist1 Acetyl-Mimic And Acetyl-Deficient Mouse Models, Mary Elmeniawi, Xiaobin Yu, Samuel Wen, Gunjan A Bhatia, Lan Liao, Jianming Xu, Walid D Fakhouri
Generation And Characterization Of Twist1 Acetyl-Mimic And Acetyl-Deficient Mouse Models, Mary Elmeniawi, Xiaobin Yu, Samuel Wen, Gunjan A Bhatia, Lan Liao, Jianming Xu, Walid D Fakhouri
Faculty, Staff and Students Publications
TWIST1 encodes a highly conserved basic helix–loop–helix transcription factor essential for embryonic development from Drosophila to humans. TWIST1 activity is regulated by post‐translational modifications, including phosphorylation during development and cancer metastasis. Recent cancer studies identified acetylation of lysines K73 and K76 as a novel regulatory modification that shifts TWIST1 from a repressive to an activating state during epithelial‐to‐mesenchymal transition (EMT). However, the developmental and in vivo functions of TWIST1 acetylation remain unknown. To investigate the physiological role, we generated the first acetyl‐deficient Twist1 K73,76R K73,76R and acetyl‐mimic Twist1 K73,76Q K73,76Q mouse models using CRISPR/Cas9‐mediated genome editing. Targeted sequencing confirmed substitutions, …
Paid Employment And Ability To Work Among People Receiving Dialysis: A Systematic Review Of Qualitative Studies, Ao Zhang, Adam Martin, Karine Manera, Chandana Guha, Martin Howell, Patrizia Natale, Nicole Scholes-Robertson, Dharshana Sabanayagam, Adeera Levin, Wolfgang Winkelmayer, Kevin F Erickson, Germaine Wong, Allison Jaure, Anita Van Zwieten
Paid Employment And Ability To Work Among People Receiving Dialysis: A Systematic Review Of Qualitative Studies, Ao Zhang, Adam Martin, Karine Manera, Chandana Guha, Martin Howell, Patrizia Natale, Nicole Scholes-Robertson, Dharshana Sabanayagam, Adeera Levin, Wolfgang Winkelmayer, Kevin F Erickson, Germaine Wong, Allison Jaure, Anita Van Zwieten
Faculty, Staff and Students Publications
Rationale & objective: People receiving dialysis have reduced workforce participation, which can affect mental well-being and exacerbate the financial burden of dialysis. This study describes the experiences and perspectives of people receiving dialysis on employment and their ability to work.
Study design: Systematic review and thematic synthesis of qualitative studies.
Setting & study populations: Adults aged 16 years and over receiving dialysis.
Search strategy & sources: MEDLINE, Embase, and PsycINFO were searched to May 2025 for qualitative and mixed-methods studies that reported the perspectives of people receiving dialysis on employment or ability to work.
Data extraction: Text from results and …
Spatial Transcriptomics Reveals Coordinated Endothelial And Epithelial Activator Protein-1 Activation In Chronic Lung Allograft Dysfunction, Yasufumi Goda, Tatsuhiko Naito, Mudassir M Banday, Andrew S Potter, Igor Odintsov, Kapil Patel, Nicole Davis, Stefi Lee, Amit Gaggar, Ivan Rosas, Gabriel Loor, Don Hayes, Nirmal S Sharma
Spatial Transcriptomics Reveals Coordinated Endothelial And Epithelial Activator Protein-1 Activation In Chronic Lung Allograft Dysfunction, Yasufumi Goda, Tatsuhiko Naito, Mudassir M Banday, Andrew S Potter, Igor Odintsov, Kapil Patel, Nicole Davis, Stefi Lee, Amit Gaggar, Ivan Rosas, Gabriel Loor, Don Hayes, Nirmal S Sharma
Faculty, Staff and Students Publications
Chronic lung allograft dysfunction (CLAD) limits long-term lung graft survival, yet its specific gene expression profiles remain unclear. We performed comprehensive spatial transcriptomic analyses of human lungs from CLAD patients, non-CLAD transplant recipients, and non-transplanted controls. In CLAD, AP-1 target genes, including JUNB and FOS, were significantly upregulated in both the epithelium and endothelium, whereas anti-fibrotic genes such as A2M and surfactant proteins (SFTPA1,2) were upregulated in non-CLAD. The lymphocyte population in CLAD was predominantly composed of T cells, with elevated JAK3-IL7R signaling. TNF and IL-17 signaling pathways were commonly activated in both the epithelium and endothelium, with JUNB and …
The Soft Cluster Score As A Multifaceted Predictive Model For Postoperative Outcomes, Gwendolyn B Henry, Spoorthi Kamepalli, Carter J Burns, Jeremy Birkmire, George Cholankeril, Avegail Flores, John A Goss, Abbas Rana
The Soft Cluster Score As A Multifaceted Predictive Model For Postoperative Outcomes, Gwendolyn B Henry, Spoorthi Kamepalli, Carter J Burns, Jeremy Birkmire, George Cholankeril, Avegail Flores, John A Goss, Abbas Rana
Faculty, Staff and Students Publications
Background: Consideration of both donor and recipient factors at the time of an organ offer is crucial in achieving the most optimal outcome given the shortage of available donor organs and waitlist mortality risk. Our aim was to achieve a comprehensive risk assessment for liver transplant patients by creating a series of independent risk index equations for 6 distinct posttransplant endpoints in the transplant continuum of care.
Methods: The Survival Outcomes Following Liver Transplantation (SOFT) Cluster score includes risk indices for patient mortality at 90 d, 1 y, 3 y, and 5 y posttransplant, graft failure at 1 y after …
Treatment Of Obsessive-Compulsive Disorder Via Mental Health Technology, Erika S Trent, Nisha Jagannathan, Eric A Storch
Treatment Of Obsessive-Compulsive Disorder Via Mental Health Technology, Erika S Trent, Nisha Jagannathan, Eric A Storch
Faculty, Staff and Students Publications
Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder that remains chronic unless intervened with evidence-based intervention. Cognitive behavioral therapy (CBT) with exposure and response prevention is the gold-standard psychological intervention for OCD, but many individuals do not receive this intervention due to barriers to accessing treatment. Mental health technology tools such as telehealth, computerized programs, internet-delivered CBT, and mobile applications have been adopted to expand the accessibility of CBT. An up-to-date summary of the evidence base of technology-mediated formats of CBT for OCD treatment is provided. Clinical benefits offered by such approaches, current limitations, and future research directions are discussed.
Hematochezia In A Patient With End-Stage Renal Disease, Brennan Gioe, Conrad Fernandes, E Celia Marginean, Stalin Subramanian
Hematochezia In A Patient With End-Stage Renal Disease, Brennan Gioe, Conrad Fernandes, E Celia Marginean, Stalin Subramanian
Faculty, Staff and Students Publications
No abstract provided.