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2026

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Brain Death Versus Circulatory Death: How Functional Warm Ischemia And Cold Storage Impact Myocardial Membrane Repair In Human Donor Hearts, Shiyi Li, Rishav Bhattacharya, Abdussalam E Elsenousi, Katherine V Nordick, Adel M Hassan, Syed B Peer, Camila Hochman-Mendez, Todd K Rosengart, Kenneth K Liao, Nandan K Mondal Jan 2026

Brain Death Versus Circulatory Death: How Functional Warm Ischemia And Cold Storage Impact Myocardial Membrane Repair In Human Donor Hearts, Shiyi Li, Rishav Bhattacharya, Abdussalam E Elsenousi, Katherine V Nordick, Adel M Hassan, Syed B Peer, Camila Hochman-Mendez, Todd K Rosengart, Kenneth K Liao, Nandan K Mondal

Faculty, Staff and Students Publications

This study compares myocardial injury responses in human donor hearts from donation after brain death (DBD) and donation after circulatory death (DCD), with a focus on myocardial membrane integrity, pyroptosis, and damage. Unlike DCD hearts, which are exposed to varying durations of functional warm ischemic time (fWIT), DBD hearts, which are never subjected to warm ischemia, served as controls. A total of 24 human hearts were procured, consisting of 6 from the DBD group and 18 from the DCD group. All procured hearts were placed in cold normal saline and stored for up to 6 h. Left ventricular biopsies were …


Mir-302 Regulates Pancreatic Progenitor Pool And Pancreatic Size, Ziyue Z Yang, Caroline G Snider, Ronald J Parchem Jan 2026

Mir-302 Regulates Pancreatic Progenitor Pool And Pancreatic Size, Ziyue Z Yang, Caroline G Snider, Ronald J Parchem

Faculty, Staff and Students Publications

Disruptions in pancreatic development can lead to health issues such as pancreatic agenesis and congenital diabetes mellitus. Understanding pancreatic organogenesis is critical for elucidating disease mechanisms and developing regenerative therapies. The pancreas consists of endocrine and exocrine cells, both of which are derived from multipotent progenitor cells (MPCs). MPC proliferation and differentiation are tightly controlled by multiple mechanisms, including post-transcriptional regulation by miRNAs. However, these regulatory factors are not fully understood. Here, we profiled miRNA expression in MPCs and identified that mir-302 was highly enriched during the earliest stages of pancreatic development. Loss of mir-302 resulted in reduced pancreatic size …


Highly Effective Combination Of Brg1/Brm Inhibitor With Bet Inhibitor Or Decitabine For High-Risk Mecom-Rearranged Aml, Warren Fiskus, Christopher P Mill, Jessica Piel, Mike Collins, Murphy Hentemann, Branko Cuglievan, Christine E Birdwell, Kaberi Das, John A Davis, Hanxi Hou, Antrix Jain, Anna Malovannaya, Lauren B Flores, Tapan M Kadia, Naval Daver, Koji Sasaki, Koichi Takahashi, Danielle Hammond, Jian Wang, Sanam Loghavi, Xiaoping Su, Courtney D Dinardo, Ruud Delwel, Kapil N Bhalla Jan 2026

Highly Effective Combination Of Brg1/Brm Inhibitor With Bet Inhibitor Or Decitabine For High-Risk Mecom-Rearranged Aml, Warren Fiskus, Christopher P Mill, Jessica Piel, Mike Collins, Murphy Hentemann, Branko Cuglievan, Christine E Birdwell, Kaberi Das, John A Davis, Hanxi Hou, Antrix Jain, Anna Malovannaya, Lauren B Flores, Tapan M Kadia, Naval Daver, Koji Sasaki, Koichi Takahashi, Danielle Hammond, Jian Wang, Sanam Loghavi, Xiaoping Su, Courtney D Dinardo, Ruud Delwel, Kapil N Bhalla

Faculty, Staff and Students Publications

In AML with 3q26.2 rearrangements (r) the distal GATA2 hematopoietic enhancer becomes aberrantly relocated leading to activation of EVI1 expression. EVI1 is a transcriptional regulator that plays a role in proliferation and maintenance of a stem cell-like phenotype in AML. BRG1 (SMARCA4) and BRM (SMARCA2) are the mutually exclusive ATPases of the BAF (BRG1/BRM-associated factor) chromatin remodeling complexes. They regulate access to enhancers/promoters and gene-expressions orchestrating AML stem/progenitor cell proliferation and differentiation. AML with 3q26.2 rearrangements are clinically challenging and prognosis remains very poor. FHD-286 is an orally bioavailable, selective inhibitor of BRG1/BRM under clinical development in AML. Present studies …


A Practical Approach To The Management Of Percutaneous Coronary Intervention Complications, Tanawat Attachaipanich, Hafeez Ul Hassan Virk, Muzamil Khawaja, Mahboob Alam, Ravi S Hira, Jacob A Doll, Chayakrit Krittanawong Jan 2026

A Practical Approach To The Management Of Percutaneous Coronary Intervention Complications, Tanawat Attachaipanich, Hafeez Ul Hassan Virk, Muzamil Khawaja, Mahboob Alam, Ravi S Hira, Jacob A Doll, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Introduction: Despite advances in stent design, pharmacotherapy, and procedural techniques that have improved percutaneous coronary intervention (PCI) outcomes and reduced PCI-related complications, these events still occur and are associated with adverse outcomes. Moreover, complex PCI procedures, which predispose to increased risk of complications, are increasingly performed. Understanding risk factors, underlying mechanisms, evidence-based management, and preventive strategies are essential to optimize procedural outcomes. This review aims to summarize current evidence and highlight gaps in knowledge related to PCI-associated complications.

Methods: This narrative review used a focused PubMed search through October 2025, prioritizing randomized trials, large observational studies, guidelines, and consensus statements. …


Left Atrial Appendage Closure Devices: A Contemporary Review Of Techniques, Tips And Tricks, Kamran Namjouyan, Hafeez Ul Hassan Virk, Affan Rizwan, Muzamil Khawaja, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong Jan 2026

Left Atrial Appendage Closure Devices: A Contemporary Review Of Techniques, Tips And Tricks, Kamran Namjouyan, Hafeez Ul Hassan Virk, Affan Rizwan, Muzamil Khawaja, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Atrial fibrillation (AF) affects approximately 3%-5% of adults and is projected to double in prevalence by 2060, significantly increasing the burden of thromboembolic stroke. This risk is largely attributed to thrombus formation within the left atrial appendage (LAA), particularly in nonvalvular AF, where the LAA's trabeculated anatomy, diverse morphologies (e.g., chicken wing, windsock, cactus, cauliflower), and impaired contractility allows for blood stasis and thrombogenesis. As a result, the LAA has become a focus for stroke prevention strategies. This review demonstrates current evidence on LAA closure by discussing patient selection, anatomical feasibility, procedural workflow, imaging guidance (transesophageal echocardiography vs. intracardiac echocardiography), …


The ‘Obesity Paradox’ In Patients Undergoing Transcatheter Aortic Valve Implantation. A Specialized Narrative Review, Johao Escobar, Iqra Riaz, Muzamil Khawaja, Hafeez Ul Hassan Virk, Joshua Hahn, Fu''Ad Al-Azzam, Zhen Wang, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong Jan 2026

The ‘Obesity Paradox’ In Patients Undergoing Transcatheter Aortic Valve Implantation. A Specialized Narrative Review, Johao Escobar, Iqra Riaz, Muzamil Khawaja, Hafeez Ul Hassan Virk, Joshua Hahn, Fu''Ad Al-Azzam, Zhen Wang, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Obesity has long been identified as a noteworthy risk factor for cardiovascular diseases, including aortic stenosis. Nevertheless, an unexplained phenomenon known as the obesity paradox has arisen in the context of transcatheter aortic valve implantation (TAVI), inquiring conventional beliefs. The obesity paradox refers to better clinical outcomes observed in obese individuals undergoing TAVI. These include reduced all-cause mortality, lower rates of procedural complications, and improved long-term survival rates compared to their lean counterparts. Several theories have been proposed to explain the obesity paradox in TAVI. One of the most popular is the adipose tissue-mediated cardioprotective effect hypothesis. It is known …


Midterm Outcomes Of The Self-Expanding Navitor Transcatheter Heart Valve: A Systematic Review And Meta-Analysis., Sahar Samimi, Chloe Kharsa, Mangesh Kritya, Joe Aoun, Syed Zaid, Nadeen N Faza, Stephen H Little, Neal S Kleiman, Michael J Reardon, Sachin S Goel Jan 2026

Midterm Outcomes Of The Self-Expanding Navitor Transcatheter Heart Valve: A Systematic Review And Meta-Analysis., Sahar Samimi, Chloe Kharsa, Mangesh Kritya, Joe Aoun, Syed Zaid, Nadeen N Faza, Stephen H Little, Neal S Kleiman, Michael J Reardon, Sachin S Goel

Faculty, Staff and Students Publications

  • A 19-study meta-analysis (7743 patients) found high Navitor technical/device success.
  • ≥Moderate PVL was low: 1.3% at 30 days and 0.6% at 1 year.
  • Pacemaker implantation was 16.7% at 30 days and 20.4% at 1 year.
  • Thirty-day outcomes were favorable: all-cause mortality 1.5% and stroke 1.7%.


Inheriting Chromosome Conformation, Kyle P Eagen Jan 2026

Inheriting Chromosome Conformation, Kyle P Eagen

Faculty, Staff and Students Publications

No abstract provided.


Reducing Delirium In Geriatric Trauma: Frailty Informed Prevention, Lauren Curcio Msn, Rn, Gero-Bc, Tcrn, Anthony Liotta, Neti N. Vora Md, Chelsea Shade Otd, Otr/L, Cns, Cbis, Rovinder S. Sandhu Md, Emma De La Cruz Jan 2026

Reducing Delirium In Geriatric Trauma: Frailty Informed Prevention, Lauren Curcio Msn, Rn, Gero-Bc, Tcrn, Anthony Liotta, Neti N. Vora Md, Chelsea Shade Otd, Otr/L, Cns, Cbis, Rovinder S. Sandhu Md, Emma De La Cruz

Patient Care Services / Nursing

No abstract provided.


Assessment Of In-Frame Indel Variants In An Unsolved Cohort Of Inherited Retinal Diseases Using Machine Learning, David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C Brock, Yumei Li, Molly Marra, Mark E Pennesi, Paul Yang, Everett Lesley, Irma Lopez, Robert Koenekoop, Edward Ryan Collantes, Joanne Bolinao, Rui Chen Jan 2026

Assessment Of In-Frame Indel Variants In An Unsolved Cohort Of Inherited Retinal Diseases Using Machine Learning, David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C Brock, Yumei Li, Molly Marra, Mark E Pennesi, Paul Yang, Everett Lesley, Irma Lopez, Robert Koenekoop, Edward Ryan Collantes, Joanne Bolinao, Rui Chen

Faculty, Staff and Students Publications

The standard for in silico pathogenicity prediction of in-frame insertions and deletions (indels) is less established compared to other types of variations. We aimed to systematically assess the performance of in silico machine learning (ML) tools on a patient cohort with inherited retinal diseases (IRDs). The performance of four ML tools (CADD, FATHMM-indel, VEST4, and MetaRNN-indel) was compared. Among them, MetaRNN-indel showed the best overall results. MetaRNN-indel was then applied to 1013 unsolved IRD patients, identifying two likely pathogenic causal variants in two unrelated IRD patients by confirming clinical phenotypes. Hence, our findings indicate that reliable prediction of the pathogenicity …


Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos Jan 2026

Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos

Faculty, Staff and Students Publications

No abstract provided.


Helicobacter Pylori And Cancer: What's The Link?, Elettra Merola, Giovanni Mario Pes, David Yates Graham, Maria Pina Dore Jan 2026

Helicobacter Pylori And Cancer: What's The Link?, Elettra Merola, Giovanni Mario Pes, David Yates Graham, Maria Pina Dore

Faculty, Staff and Students Publications

Helicobacter pylori (H. pylori) is a human bacterial pathogen that causes one of the most common chronic bacterial infections worldwide. The microorganism has been classified by the International Agency for Research on Cancer as a Group I carcinogen. While the etiological link to gastric cancer is well established, the precise molecular and cellular mechanisms driving this transformation are highly complex and incompletely understood. Fundamentally, the infection results from the chronic presence of acute on chronic gastric mucosal inflammation. H. pylori pathogenicity is increased by bacterial virulence factors including the cytotoxin-associated gene A (CagA) and Vacuolating cytotoxin A (VacA) …


Autologous Multiantigen-Targeted T Cell Therapy For Pancreatic Cancer: A Phase 1/2 Trial, Benjamin L Musher, Spyridoula Vasileiou, Brandon G Smaglo, Catherine S Robertson, Mengfen Wu, Tao Wang, Ayumi Watanabe, Manik Kuvalekar, Yovana Velazquez, Shamika Ketkar, Tamadar Al Doheyan, Penelope G Papayanni, Aakash Shah, Natalia Lapteva, Bambi J Grilley, George Van Buren, Premal D Lulla, Helen E Heslop, Cliona M Rooney, Malcolm K Brenner, Ann M Leen Jan 2026

Autologous Multiantigen-Targeted T Cell Therapy For Pancreatic Cancer: A Phase 1/2 Trial, Benjamin L Musher, Spyridoula Vasileiou, Brandon G Smaglo, Catherine S Robertson, Mengfen Wu, Tao Wang, Ayumi Watanabe, Manik Kuvalekar, Yovana Velazquez, Shamika Ketkar, Tamadar Al Doheyan, Penelope G Papayanni, Aakash Shah, Natalia Lapteva, Bambi J Grilley, George Van Buren, Premal D Lulla, Helen E Heslop, Cliona M Rooney, Malcolm K Brenner, Ann M Leen

Faculty, Staff and Students Publications

T cell therapy has proven challenging for pancreatic ductal adenocarcinoma (PDAC), partly due to heterogeneous expression of tumor-associated antigens (TAAs). To address tumor heterogeneity and mitigate immune evasion, an ex vivo expanded, polyclonal, T helper 1 cell-polarized T cell product targeting five TAAs—PRAME, SSX2, MAGEA4, Survivin and NY-ESO-1—was developed. These antigens were chosen based on their tumor specificity, oncogenicity, immunogenicity and level of expression. In a phase 1/2 trial, this autologous nonengineered T cell product was administered (1 × 107 cells m−2 per infusion) monthly to patients with advanced PDAC responding (arm A, n = 13) or refractory (arm B, …


Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer Jan 2026

Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer

Faculty, Staff and Students Publications

Background: Ependymoma is a malignancy of the neuroepithelium-derived ependyma that lines the spinal cord and ventricles of the brain, occurring most frequently in young children and older adults. Genetic susceptibility to ependymoma has proven difficult to assess due to disease rarity.

Methods: We performed genome-wide association studies (GWAS) of 478 ependymoma patients and 4,841 disease-free controls of European ancestry. Ependymoma patients consisted of 117 children (< 18 years old) with whole-genome sequencing (WGS), 142 children with genotyping, and 219 adults (≥18 years old) with genotyping. Genotyped samples were imputed using the 1,000 Genomes Project as the reference panel and underwent quality control filtering. The GWAS was performed separately by age group and technology (genotyped or WGS). GWAS variants were considered significant at P < 5 × 10-8.

Results: Among pediatric subjects with WGS data, we identified a significant intronic variant in EDIL3 (rs149378, P = 1.9 × 10-8) and a nearly significant intronic variant in LHX4 (rs79008224, P = 7.2 …


Molecular Heterogeneity Of Hpv-Associated Cancers And Strategies To Overcome Treatment Resistance, Sara Rasouli, Weiyi Gong, Raegan Wood, Danyal Daneshdoust, Anam Khan, Rani Mahyoob, Chongwen Cao, Zihao Yu, Nagireddy Putluri, Gennady Shvets, Haichang Li, Bo Zhao, Xuefeng Liu, Jenny Li Jan 2026

Molecular Heterogeneity Of Hpv-Associated Cancers And Strategies To Overcome Treatment Resistance, Sara Rasouli, Weiyi Gong, Raegan Wood, Danyal Daneshdoust, Anam Khan, Rani Mahyoob, Chongwen Cao, Zihao Yu, Nagireddy Putluri, Gennady Shvets, Haichang Li, Bo Zhao, Xuefeng Liu, Jenny Li

Faculty, Staff and Students Publications

Human papillomavirus (HPV) is a major driver of global cancer incidence, responsible for nearly all cervical cancers and a significant proportion of oropharyngeal, anal, and other anogenital cancers. Despite the availability of effective vaccines, HPV-associated cancers persist due to persistent infection, immune evasion, and the virus's ability to integrate into the host genome, contributing to molecular heterogeneity and therapeutic resistance. Here, we summarize molecular heterogeneity and the emerging combined therapeutic strategies. High-risk HPV types, notably HPV16 and HPV18, initiate carcinogenesis through persistent infection of epithelial basal cells and through the actions of the E6 and E7 oncoproteins, which disrupt the …


Investigating Food-Related Behaviors In Smith-Magenis Syndrome: Tailoring A Questionnaire For A Rare Disease, Citrine Elatrash, Theresa A Wilson, Alexis C Wood, Sarah H Elsea, Stephanie Sisley Jan 2026

Investigating Food-Related Behaviors In Smith-Magenis Syndrome: Tailoring A Questionnaire For A Rare Disease, Citrine Elatrash, Theresa A Wilson, Alexis C Wood, Sarah H Elsea, Stephanie Sisley

Faculty, Staff and Students Publications

Purpose: Accurate measurement is essential for tracking changes in clinical outcomes. Individuals with Smith-Magenis syndrome (SMS) exhibit challenging and unique food-related behaviors. We sought to determine the best tool to capture their unique food-related behaviors.

Methods: We conducted focus groups with caregivers of individuals with SMS to evaluate two commonly used questionnaires for food-related behaviors- the Food Related Problems Questionnaire (FRPQ) and the Hyperphagia Questionnaire for Clinical Trials (HQ-CT). Based on caregiver input and clinical expertise, we adapted these existing measures into a new tool: the SMS-FRPQ. We then validated this instrument for internal consistency and concurrent validity using online …


Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini Jan 2026

Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini

Faculty, Staff and Students Publications

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing …


Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu Jan 2026

Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu

Faculty, Staff and Students Publications

Alzheimer's disease is characterized by complex molecular and cellular heterogeneity, which complicates efforts to identify consistent biomarkers and therapeutic targets. To better characterize the heterogeneity, we applied latent factor modeling to RNA sequencing data from approximately 2,500 human Alzheimer's disease brain samples, uncovering underlying patterns in gene expression. These transcriptional groups demonstrated unique gene expression profiles related to synaptic and neuronal pathways, vasculature development, and protein folding and antigen processing. Notably, this latent factor reflects variation in spatial sampling. Adjusting for the latent factor improved the identification of differentially expressed genes in disease samples. This finding suggests that spatial heterogeneity …


Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González Jan 2026

Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González

Faculty, Staff and Students Publications

Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by TK2 variants, leading to mitochondrial DNA depletion and/or multiple deletions. People with thymidine kinase 2 deficiency experience progressive myopathy, bulbar weakness and respiratory insufficiency, often losing the ability to walk, eat and breathe independently. Doxecitine and doxribtimine represents the first approved treatment for patients with thymidine kinase 2 deficiency with age of symptom onset ≤12 years by the US Food and Drug Administration and the European Medicines Agency; previously, disease management was limited to supportive care. We investigated the efficacy and safety of pyrimidine …


Reframing Trauma-Informed Care For Refugee And (Im)Migrant Health Systems: From Interpersonal Practice To Structurally Embedded Care, Hyojin Im, Sophia Banu, Aisha Koroma, Sarmaya Mustafayeva Jan 2026

Reframing Trauma-Informed Care For Refugee And (Im)Migrant Health Systems: From Interpersonal Practice To Structurally Embedded Care, Hyojin Im, Sophia Banu, Aisha Koroma, Sarmaya Mustafayeva

Faculty, Staff and Students Publications

No abstract provided.


Transition To Tenecteplase Is Associated With Shorter Door-To-Puncture Times: A Retrospective Study From The Lone Star Stroke Consortium Tnk Registry, Anqi Luo, Sujani Bandela, Gretchel Gealogo-Brown, Mark P Goldberg, Andrew Slusher, Reza Behrouz, Alibay Jafarli, Siddarth Prasad, Daiwai Olson, Maria Denbow, Mehari Gebreyohanns, Asmiet Techan, Chethan P Venkatasubba Rao, Jane A Anderson, Barbara Kimmel, Anette Ovalle, Michele Patterson, Sean I Savitz, Salvador Cruz-Flores, Steven Warach, Lee Birnbaum Jan 2026

Transition To Tenecteplase Is Associated With Shorter Door-To-Puncture Times: A Retrospective Study From The Lone Star Stroke Consortium Tnk Registry, Anqi Luo, Sujani Bandela, Gretchel Gealogo-Brown, Mark P Goldberg, Andrew Slusher, Reza Behrouz, Alibay Jafarli, Siddarth Prasad, Daiwai Olson, Maria Denbow, Mehari Gebreyohanns, Asmiet Techan, Chethan P Venkatasubba Rao, Jane A Anderson, Barbara Kimmel, Anette Ovalle, Michele Patterson, Sean I Savitz, Salvador Cruz-Flores, Steven Warach, Lee Birnbaum

Faculty, Staff and Students Publications

Background: Intravenous thrombolytic (IVT) and mechanical thrombectomy (MT) therapies are the current standard of care for large vessel occlusion (LVO) stroke. Multiple studies emphasized the impact of time metrics on patient outcomes, particularly door-to-needle (DTN) and door-to-puncture (DTP) times. Tenecteplase (TNK) offers potential advantages over alteplase (ALT), including a simplified one-time bolus administration, which may reduce DTP time. Results suggest TNK is non-inferior to ALT in terms of clinical outcomes, but few large cohort studies have compared DTP time for patients receiving TNK vs. ALT prior to thrombectomy. This real-world study aimed to compare DTP times and discharge outcomes in …


Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin Jan 2026

Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin

Faculty, Staff and Students Publications

Objective: Suicidal ideation has not been extensively studied in spinocerebellar ataxias (SCAs). The authors examined whether individuals with SCAs have increased suicidal ideation and related factors.

Methods: The authors studied patients with genetically confirmed SCAs enrolled in the Clinical Research Consortium for the Study of Cerebellar Ataxia cohort, examining the percentages of patients with SCA subtypes 1, 2, 3, and 6 who reported suicidal ideation and comparing findings with nationally representative data from the National Survey on Drug Use and Health (NSDUH). Clinical characteristics that may contribute to suicidal ideation in SCAs, including age, disease duration, sex, ataxia severity, depression, …


Understanding Wage Theft: Beyond The Numbers Through Community Practice, Lived Experience, And Research, André Simões Da Silva, Lenita Reason, Cristina Araujo Brinkerhoff Jan 2026

Understanding Wage Theft: Beyond The Numbers Through Community Practice, Lived Experience, And Research, André Simões Da Silva, Lenita Reason, Cristina Araujo Brinkerhoff

Gastón Institute Publications

Wage theft is a widespread form of labor exploitation that disproportionately affects immigrant and other vulnerable workers. This report examines the scope and impact of wage theft in Massachusetts by analyzing case data from the Brazilian Worker Center (BWC) alongside wage and labor enforcement data from the Massachusetts Attorney General’s Office (AGO). The analysis demonstrates how wage theft affects immigrant workers across industries, with particularly high numbers of cases in construction, cleaning, and hospitality. The data also reveal significant gaps in the reporting and enforcement of wage violations, particularly among domestic workers, whose cases are likely substantially underrepresented in available …


Research News, Grants, 2026, Volume 1, Soumyajit Majumdar Jan 2026

Research News, Grants, 2026, Volume 1, Soumyajit Majumdar

Grants (2015-)

Grants and contracts awarded during January - March 2026


Research News, Grants, 2026, Volume 2, Soumyajit Majumdar Jan 2026

Research News, Grants, 2026, Volume 2, Soumyajit Majumdar

Grants (2015-)

Grants and contracts awarded during April - June 2026


Research News, Grants, 2026, Volume 3, Soumyajit Majumdar Jan 2026

Research News, Grants, 2026, Volume 3, Soumyajit Majumdar

Grants (2015-)

Grants and contracts awarded during July - September 2026


Can You Hear Me Now?, Daniel Gonzalez, Amanda Moore Jan 2026

Can You Hear Me Now?, Daniel Gonzalez, Amanda Moore

Faculty Publications

No abstract provided.


A Different Starting Point: Youth Discipleship For A New Generation, Rogelio Paquini Jan 2026

A Different Starting Point: Youth Discipleship For A New Generation, Rogelio Paquini

Faculty Publications

No abstract provided.


Welcome From The Editor, Joshua E. Young Jan 2026

Welcome From The Editor, Joshua E. Young

Iowa Journal of Communication

No abstract provided.


Small-World Simulations: A New Method To Test The Effect Of Legal Rules, Johannes Kruse Jan 2026

Small-World Simulations: A New Method To Test The Effect Of Legal Rules, Johannes Kruse

Coase-Sandor Institute for Law & Economics Research Paper Series

Small-world simulation exposes an artificial society to a legal rule and observes what its members do. The agents are driven by language models: their conduct is not stipulated in equations but reasoned in their own words. The architecture can be turned on any legal regime; personalized speed limits are the demonstration, chosen because rational-choice and behavioral predictions there conflict. Validated against documented driving patterns, the simulation generates behavior no one wrote into it. Because language models are trained on what people say rather than do, the method estimates orderings, not levels: a benchmark, not a substitute for evidence.