Medical Specialties Commons^™

Unexpected Hepatic Manifestations Of Rheumatoid Arthritis, Ankur Patel, Christo Mathew, Lucas Mcgowan, Sarah Bohac, Andrew Caruso, Scott Larson

Faculty, Staff and Students Publications

Rheumatoid arthritis is an inflammatory condition typically affecting joint spaces. However, extra-articular manifestations are common including vascular and gastrointestinal tract involvement. This disease may also manifest as nodules, although these are typically found in the extremities and are very rarely seen in the liver. When a patient presents with liver nodules, an extensive work-up is typically completed to determine infectious, inflammatory, or malignant etiologies. We report hepatic findings of rheumatoid arthritis during an extensive inpatient investigation of liver lesions.

The Brd4-Nut Fusion Alone Drives Malignant Transformation Of Nut Carcinoma, R Taylor Durall, Julianna Huang, Luke Wojenski, Yeying Huang, Prafulla C Gokhale, Brittaney A Leeper, Joshua O Nash, Pedro L Ballester, Scott Davidson, Adam Shlien, Emmanuel Sotirakis, Fabien Bertaux, Vincent Dubus, Jia Luo, Catherine J Wu, Derin B Keskin, Kyle P Eagen, Geoffrey I Shapiro, Christopher A French

Faculty, Staff and Students Publications

NUT carcinoma (NC) is an aggressive squamous carcinoma defined by the BRD4-NUT fusion oncoprotein. Routinely effective systemic treatments are unavailable for most NC patients. The lack of an adequate animal model precludes identifying and leveraging cell-extrinsic factors therapeutically in NC. Here, we created a genetically engineered mouse model (GEMM) of NC that forms a Brd4::NUTM1 fusion gene upon tamoxifen induction of Sox2-driven Cre. The model displayed complete disease penetrance, with tumors arising from the squamous epithelium weeks after induction and all mice succumbing to the disease shortly thereafter. Closely resembling human NC (hNC), GEMM tumors (mNC) were poorly differentiated squamous …

Gene Transcription Regulation By Er At The Single Cell And Allele Level, Fabio Stossi, Alejandra Rivera Tostado, Hannah L Johnson, Ragini M Mistry, Maureen G Mancini, Michael A Mancini

Faculty, Staff and Students Publications

In this short review we discuss the current view of how the estrogen receptor (ER), a pivotal member of the nuclear receptor superfamily of transcription factors, regulates gene transcription at the single cell and allele level, focusing on in vitro cell line models. We discuss central topics and new trends in molecular biology including phenotypic heterogeneity, single cell sequencing, nuclear phase separated condensates, single cell imaging, and image analysis methods, with particular focus on the methodologies and results that have been reported in the last few years using microscopy-based techniques. These observations augment the results from biochemical assays that lead …

Incidence, Risk Assessment And Prevention Of Sudden Cardiac Death In Cardiomyopathies, Marija Polovina, Carsten Tschöpe, Giuseppe Rosano, Marco Metra, Filippo Crea, Wilfried Mullens, Johann Bauersachs, Karen Sliwa, Rudolf A De Boer, Dimitrios Farmakis, Thomas Thum, Domenico Corrado, Antoni Bayes-Genis, Biykem Bozkurt, Gerasimos Filippatos, Andre Keren, Hadi Skouri, Brenda Moura, Maurizio Volterrani, Magdy Abdelhamid, Milika Ašanin, Gordana Krljanac, Milenko Tomić, Gianluigi Savarese, Marianna Adamo, Yuri Lopatin, Ovidiu Chioncel, Andrew J S Coats, Petar M Seferović

Faculty, Staff and Students Publications

Cardiomyopathies are a significant contributor to cardiovascular morbidity and mortality, mainly due to the development of heart failure and increased risk of sudden cardiac death (SCD). Despite improvement in survival with contemporary treatment, SCD remains an important cause of mortality in cardiomyopathies. It occurs at a rate ranging between 0.15% and 0.7% per year (depending on the cardiomyopathy), which significantly surpasses SCD incidence in the age- and sex-matched general population. The risk of SCD is affected by multiple factors including the aetiology, genetic basis, age, sex, physical exertion, the extent of myocardial disease severity, conduction system abnormalities, and electrical instability, …

Challenges In The Management Of The Kidney Allograft: From Decline To Failure: Conclusions From A Kidney Disease: Improving Global Outcomes (Kdigo) Controversies Conference, Michelle A Josephson, Yolanda Becker, Klemens Budde, Bertram L Kasiske, Bryce A Kiberd, Alexandre Loupy, Jolanta Małyszko, Roslyn B Mannon, Burkhard Tönshoff, Michael Cheung, Michel Jadoul, Wolfgang C Winkelmayer, Martin Zeier, For Conference Participants

Faculty, Staff and Students Publications

In March 2022, Kidney Disease: Improving Global Outcomes (KDIGO) held a virtual Controversies Conference to address the important but rarely examined phase during which the kidney transplant is failing or has failed. In addition to discussing the definition of a failing allograft, 4 broad areas were considered in the context of a declining functioning graft: prognosis and kidney failure trajectory; immunosuppression strategies; management of medical and psychological complications, and patient factors; and choice of kidney replacement therapy or supportive care following graft loss. Identifying and paying special attention to individuals with failing allografts was felt to be important in order …

Dynamic And Functional Linkage Between Von Willebrand Factor And Adamts-13 With Aging: An Atherosclerosis Risk In Community Study, Wei Liu, Kavita Patel, Yi Wang, Michael Nodzenski, Ashley Nguyen, Gayle Teramura, Harrison A Higgins, Ron C Hoogeveen, David Couper, Xiaoyun Fu, Barbara A Konkle, Matthew Shane Loop, Jing-Fei Dong

Faculty, Staff and Students Publications

Background: von Willebrand factor (VWF) is a multimeric glycoprotein critically involved in hemostasis, thrombosis, and inflammation. VWF function is regulated by its antigen levels, multimeric structures, and the state of enzymatic cleavage. Population studies in the past have focused almost exclusively on VWF antigen levels in cross-sectional study designs.

Objective: To identify subjects in the Atherosclerosis Risk in Community study who had persistently low and high VWF antigen over 10 years and to quantify longitudinal changes in the biological activities and cleavage of VWF in these subjects.

Methods: We measured VWF antigen, propeptide, adhesive activities, and cleavage by ADAMTS-13 quantified …

Impact Of Routine Urine Cultures On Antibiotic Usage In Those Undergoing A Routine Annual Spinal Cord Injury Evaluation, Sarah May, Annette Walder, Casey Hines-Munson, Ivy Poon, S Ann Holmes, Charlesnika T Evans, Barbara W Trautner, Felicia Skelton

Faculty, Staff and Students Publications

OBJECTIVE: The Veterans Health Administration (VHA), the largest single provider of spinal cord injury and disorder (SCI/D) care in the United States, currently mandates that every patient receives a screening urine culture during the annual evaluation, a yearly comprehensive history and physical examination. This testing has shown in a small subset of patients to overidentify asymptomatic bacteriuria that is then inappropriately treated with antibiotics. The objective of the current analysis was to assess the association of the annual evaluation on urine testing and antibiotic treatment in a national sample of Veterans with SCI/D.

DESIGN/METHOD: A retrospective cohort study using national …

Development Of Canagliflozin Nanocrystals Sublingual Tablets In The Presence Of Sodium Caprate Permeability Enhancer: Formulation Optimization, Characterization, Sammar Fathy Elhabal, Mohamed A El-Nabarawi, Nashwa Abdelaal, Mohamed Fathi Mohamed Elrefai, Shrouk A Ghaffar, Mohamed Mansour Khalifa, Passant M Mohie, Dania S Waggas, Ahmed Mohsen Elsaid Hamdan, Samar Zuhair Alshawwa, Essa M Saied, Nahla A Elzohairy, Tayseer Elnawawy, Rania A Gad, Nehal Elfar, Hanaa Mohammed, Mohammad Ahmad Khasawneh

Faculty, Staff and Students Publications

Canagliflozin (CFZ) is a sodium-glucose cotransporter-2 inhibitor (SGLT2) that lowers albuminuria in type-2 diabetic patients, cardiovascular, kidney, and liver disease. CFZ is classified as class IV in the Biopharmaceutical Classification System (BCS) and is characterized by low permeability, solubility, and bioavailability, most likely attributed to hepatic first-pass metabolism. Nanocrystal-based sublingual formulations were developed in the presence of sodium caprate, as a wetting agent, and as a permeability enhancer. This formulation is suitable for children and adults and could enhance solubility, permeability, and avoid enterohepatic circulation due to absorption through the sublingual mucosa. In the present study, formulations containing various surfactants …

Navigating Relapsed Hepatoblastoma: Predictive Factors And Surgical Treatment Strategy, Andres F Espinoza, Kalyani R Patel, Priya B Shetty, Richard S Whitlock, Pavel Sumazin, Xinjian Yu, Stephen F Sarabia, Martin Urbicain, Andras Heczey, Prakash Masand, Sarah E Woodfield, Dolores H López-Terrada, Sanjeev A Vasudevan

Faculty, Staff and Students Publications

Objective: Hepatoblastoma (HB) is the most common primary hepatic malignancy in childhood. Relapse occurs in more than 50% of high-risk patients with a high mortality due to ineffective salvage therapies. The purpose of this study is to identify risk factors for relapsed HB and predictors of survival in a single tertiary referral center.

Methods: A retrospective chart review showed 129 surgically treated HB patients from October 2004 to July 2020. Of the cohort, 22 patients presented with relapsed HB. Relapse was defined as re-appearance of malignancy after 4 weeks of normalized AFP and disappearance of all tumors on imaging.

Results: …

Management Of Adults With Anomalous Aortic Origin Of The Coronary Arteries: State-Of-The-Art Review, Mario Gaudino, Antonino Di Franco, Eloisa Arbustini, Emile Bacha, Eric R Bates, Duke E Cameron, Davide Cao, Tirone E David, Ruggero De Paulis, Ismail El-Hamamsy, Kanwal M Farooqi, Leonard N Girardi, Christoph Gräni, Jonathan D Kochav, Silvana Molossi, John D Puskas, Sunil V Rao, Sigrid Sandner, James Tatoulis, Quynh A Truong, Jonathan W Weinsaft, Daniel Zimpfer, Carlos M Mery

Faculty, Staff and Students Publications

As a result of increasing adoption of imaging screening, the number of adult patients with a diagnosis of anomalous aortic origin of the coronary arteries (AAOCA) has grown in recent years. Existing guidelines provide a framework for management and treatment, but patients with AAOCA present with a wide range of anomalies and symptoms that make general recommendations of limited applicability. In particular, a large spectrum of interventions can be used for treatment, and there is no consensus on the optimal approach to be used. In this paper, a multidisciplinary group of clinical and interventional cardiologists and cardiac surgeons performed a …

Clinical Exome Sequencing Efficacy And Phenotypic Expansions Involving Anomalous Pulmonary Venous Return, Emily A Huth, Xiaonan Zhao, Nichole Owen, Pamela N Luna, Ida Vogel, Inger L H Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J Parker, Jacoba J Louw, Marc Gewillig, Jeroen Breckpot, Alison Kraus, Erina Sasaki, Usha Kini, Trent Burgess, Tiong Y Tan, Ruth Armstrong, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Wihelmina S Kerstjens-Frederikse, Julia Rankin, Lindsey R Helvaty, Benjamin J Landis, Gabrielle C Geddes, Kim L Mcbride, Stephanie M Ware, Chad A Shaw, Seema R Lalani, Jill A Rosenfeld, Daryl A Scott

Faculty, Staff and Students Publications

Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in individuals with APVR remains uncertain, and the etiology of most cases of APVR is unclear. Here, we analyzed molecular data from 49 individuals to determine the diagnostic yield of clinical exome sequencing (ES) for non-isolated APVR. A definitive or probable diagnosis was made for 8 of those individuals yielding a diagnostic efficacy rate of 16.3%. We then analyzed molecular data from 62 individuals with APVR accrued from three databases to …

Metabolic Dysfunction, Triglyceride-Glucose Index, And Risk Of Severe Asthma Exacerbation, Kristen A Staggers, Charles Minard, Michelle Byers, Drew A Helmer, Tianshi David Wu

Faculty, Staff and Students Publications

BACKGROUND: Metabolic conditions may worsen asthma. There is a need to define a composite biomarker of metabolic dysfunction that has relevance to asthma outcomes.

OBJECTIVE: To determine the association of the triglyceride-glucose index (TyG), a biomarker of metabolic syndrome and insulin resistance, with risk of severe asthma exacerbation.

METHODS: A 5-year retrospective cohort of patients with asthma receiving health care from the US Veterans Health Administration from January 1, 2015, to December 31, 2019, was constructed. Fasting TyG values were extracted. Patients were followed for a severe asthma exacerbation, defined as an asthma-related corticosteroid prescription fill or an emergency encounter …

Elevating The Educational Mission Of "Full-Service" Core Facilities Through Formal Biotechnology Workshops, Emily Ricco, Stacy Nguyen, Victoria Rodriguez, Kieu Pham, Esmanur Tokcan, Sherita Love, Alana Newell, Daniel C Kraushaar

Faculty, Staff and Students Publications

Core facility laboratories are an essential part of the successful research enterprise of many universities around the world. Core facilities provide state-of-the-art instrumentation and technologies to support research of all faculty, postdocs, and students on a fee-for-service basis. Academic next-generation sequencing cores are typically "full service" facilities, and access to and training on their instrumentation is limited to core staff. To address these limitations, we provided graduate students with technical training at our core facility. We developed a 1-week noncredit-bearing workshop and recruited 6 graduate students (N = 6) as part of a pilot program. The program involved online teaching, …

Empagliflozin In Patients Admitted To Hospital With Covid-19 (Recovery): A Randomised, Controlled, Open-Label, Platform Trial, Recovery Collaborative Group

Faculty, Staff and Student Publications

BACKGROUND: Empagliflozin has been proposed as a treatment for COVID-19 on the basis of its anti-inflammatory, metabolic, and haemodynamic effects. The RECOVERY trial aimed to assess its safety and efficacy in patients admitted to hospital with COVID-19.

METHODS: In the randomised, controlled, open-label RECOVERY trial, several possible treatments are compared with usual care in patients hospitalised with COVID-19. In this analysis, we assess eligible and consenting adults who were randomly allocated in a 1:1 ratio to either usual standard of care alone or usual standard of care plus oral empagliflozin 10 mg once daily for 28 days or until discharge …

Resuscitative Endovascular Balloon Occlusion Of The Aorta And Resuscitative Thoracotomy Are Associated With Similar Outcomes In Traumatic Cardiac Arrest, Ezra Y Koh, Erin E Fox, Charles E Wade, Thomas M Scalea, Charles J Fox, Ernest E Moore, Bryan C Morse, Kenji Inaba, Eileen M Bulger, David E Meyer

Faculty, Staff and Student Publications

Background: Resuscitative endovascular balloon occlusion of the aorta (REBOA) is a minimally invasive alternative to resuscitative thoracotomy (RT) for patients with hemorrhagic shock. However, the potential benefits of this approach remain subject of debate. The aim of this study was to compare the outcomes of REBOA and RT for traumatic cardiac arrest.

Methods: A planned secondary analysis of the United States Department of Defense-funded Emergent Truncal Hemorrhage Control study was performed. Between 2017 and 2018, a prospective observational study of noncompressible torso hemorrhage was conducted at six Level I trauma centers. Patients were dichotomized by REBOA or RT, and baseline …

Transcarotid Stenting Of Extracranial Carotid Artery Aneurysm With Covered Stents And Flow Reversal, S Taha Zaidi, Mitchell J George, Tommaso Cambiaghi, Naveed Saqib, Daniel Miles, Shihuan Wang, Stuart Harlin

Faculty, Staff and Student Publications

Introduction: An extracranial carotid artery aneurysm (ECAA) is a rare pathology comprising < 1% of all arterial aneurysms. The etiology includes trauma, previous surgery, radiation, and infection. Treatment of ECAAs has evolved from open repair to endovascular repair with stenting. Reports of endovascular repair describe the transfemoral approach; however, little more than case reports are available describing the transcarotid approach for ECAAs. In this study, we describe a cohort of patients who safely underwent transcarotid repair of ECAAs.

Methods: We performed a retrospective medical record review of all cases of transcarotid stenting using covered stents for a carotid aneurysm within 11 different hospitals within the Memorial Hermann Health System from December 2019 through December 2022. Technical success is defined as coverage of the aneurysm with no endoleak. We report the patient demographics, clinical presentation, intraoperative metrics, and outcomes.

Results: Seven patients underwent transcarotid covered stent placement using flow reversal for neurologic protection. Their average age was 65 years, and four of the seven patients were men. …

Exploring Illness Perceptions Of Multimorbidity Among Community-Dwelling Older Adults: A Mixed Methods Study, Ayomide Okanlawon Bankole, Rozmin B Jiwani, Forgive Avorgbedor, Jing Wang, Onome H Osokpo, Sara L Gill, Carrie Jo Braden

Faculty, Staff and Student Publications

Background: Illness perceptions are individual beliefs or experiences about the nature and treatment of their illness. Although extensive research exists about illness perceptions, little is known about illness perceptions of multimorbidity.

Methods: The purpose of this parallel-convergent mixed-methods study was to comprehensively explore illness perception of multimorbidity among community dwelling older adults. Data was collected using one-on-one semi-structured interviews (n=17) and the Multimorbidity Illness Perception Scale (MULTIPleS) (n=116). Qualitative data were analyzed using content analysis while quantitative data were analyzed with descriptive and inferential statistics. Both qualitative and quantitative findings were integrated to identify differences in illness perceptions of multimorbidity …

Guidelines For Prehospital Management Of Traumatic Brain Injury 3rd Edition: Executive Summary, Gregory W J Hawryluk, Al Lulla, Randy Bell, Andy Jagoda, Halinder S Mangat, Bentley J Bobrow, Jamshid Ghajar

Faculty, Staff and Student Publications

Prehospital care markedly influences outcome from traumatic brain injury, yet it remains highly variable. The Brain Trauma Foundation's guidelines informing prehospital care, first published in 2002, have sought to identify and disseminate best practices. Many of its recommendations relate to the management of airway, breathing and circulation, and infrastructure for this care. Compliance with the second edition of these guidelines has been associated with significantly improved survival. A working group developed evidence-based recommendations informing assessment, treatment, and transport decision-making relevant to the prehospital care of brain injured patients. A literature search spanning May 2005 to January 2022 supplemented data contained …

Nurse Care Management For Opioid Use Disorder Treatment: The Proud Cluster Randomized Clinical Trial, Paige D Wartko, Jennifer F Bobb, Denise M Boudreau, Abigail G Matthews, Jennifer Mccormack, Amy K Lee, Hongxiang Qiu, Onchee Yu, Noorie Hyun, Abisola E Idu, Cynthia I Campbell, Andrew J Saxon, David S Liu, Andrea Altschuler, Jeffrey H Samet, Colleen T Labelle, Mohammad Zare-Mehrjerdi, Angela L Stotts, Jordan M Braciszewski, Mark T Murphy, Douglas Dryden, Julia H Arnsten, Chinazo O Cunningham, Viviana E Horigian, José Szapocznik, Joseph E Glass, Ryan M Caldeiro, Rebecca C Phillips, Mary Shea, Gavin Bart, Robert P Schwartz, Jennifer Mcneely, Jane M Liebschutz, Judith I Tsui, Joseph O Merrill, Gwen T Lapham, Megan Addis, Katharine A Bradley, Proud Trial Collaborators, Megan M Ghiroli, Leah K Hamilton, Yong Hu, Jennifer S Lahue, Amy M Loree, Sean M Murphy, Thomas F Northrup, Dikla Shmueli-Blumberg, Angela J Silva, Zoe M Weinstein, Mark Tinfook Wong, Rachael P Burganowski

Faculty, Staff and Student Publications

Importance: Few primary care (PC) practices treat patients with medications for opioid use disorder (OUD) despite availability of effective treatments.

Objective: To assess whether implementation of the Massachusetts model of nurse care management for OUD in PC increases OUD treatment with buprenorphine or extended-release injectable naltrexone and secondarily decreases acute care utilization.

Design, setting, and participants: The Primary Care Opioid Use Disorders Treatment (PROUD) trial was a mixed-methods, implementation-effectiveness cluster randomized clinical trial conducted in 6 diverse health systems across 5 US states (New York, Florida, Michigan, Texas, and Washington). Two PC clinics in each system were randomized to intervention …

Acute Myeloid Leukemia With Mutated Tp53: Is This Newly Proposed Entity Oversimplifying A Complex Group Of Neoplasms?, Hong Fang, L Jeffery Medeiros, Wei Wang

Faculty, Staff and Student Publications

No abstract provided.

Psychological Distress And Mental Health Care Utilization Among Hispanic/Latino Survivors Of Adolescent And Young Adult Cancer, Eunju Choi, Amy M Berkman, Christabel K Cheung, Andrea C Betts, John M Salsman, Clark R Andersen, Carol Yesenia Ochoa-Dominguez, Kimberly Miller, Joel Milam, Ashna Shah, Susan K Peterson, Qian Lu, J Andrew Livingston, Michelle A T Hildebrandt, Susan K Parsons, David Freyer, Michael E Roth

Faculty, Staff and Student Publications

Purpose: Survivors of adolescent and young adult (AYA) cancer experience psychological distress and insufficient access to mental health care. Few studies have investigated racial/ethnic disparities in psychological health outcomes in this population. This study compared psychological distress, mental health care use, and inability to afford mental health care between Hispanic/Latino survivors of AYA cancer and Hispanic/Latino controls.

Methods: The National Health Interview Survey data (2010-2018) were analyzed to identify Hispanic/Latino survivors of AYA cancer and Hispanic/Latino age- and sex-matched non-cancer controls. Sociodemographic, chronic health, modifiable factors, and psychological outcomes were compared using chi-square tests. Logistic regression models with survey weights …

Development And Validation Of Age-Specific Risk Prediction Models For Primary Ovarian Insufficiency In Long-Term Survivors Of Childhood Cancer: A Report From The Childhood Cancer Survivor Study And St Jude Lifetime Cohort, Cindy Im, Zhe Lu, Sogol Mostoufi-Moab, Angela Delaney, Lin Yu, Jessica L Baedke, Yutong Han, Yadav Sapkota, Yutaka Yasui, Eric J Chow, Rebecca M Howell, Smita Bhatia, Melissa M Hudson, Kirsten K Ness, Gregory T Armstrong, Paul C Nathan, Yan Yuan

Faculty, Staff and Student Publications

BACKGROUND: Female survivors of childhood cancer are at risk for primary ovarian insufficiency (POI), defined as the cessation of gonadal function before the age of 40 years. We aimed to develop and validate models to predict age-specific POI risk among long-term survivors of childhood cancer.

METHODS: To develop models to predict age-specific POI risk for the ages of 21-40 years, we used data from the Childhood Cancer Survivor Study (CCSS). Female survivors aged 18 years or older at their latest follow-up, with self-reported menstrual history information and free of subsequent malignant neoplasms within 5 years of diagnosis, were included. We …

Poor Sit-To-Stand Performance In Adolescent And Young Adult Patients With Sarcoma, Savannah V Wooten, Behrang Amini, J Andrew Livingston, Michelle A T Hildebrandt, Joya Chandra, Susan C Gilchrist, Michael Roth, Eugenie Kleinerman

Faculty, Staff and Student Publications

Background: Adolescents and young adult (AYA) patients with sarcoma are at heightened risk of reduced physical capacity and disease-related weakness. Sit-to-stand (STS) performance correlates with lower extremity functionality and activities of daily living; however, little is known regarding the relationship between muscular status and STS performance in patients with sarcoma. This study assessed STS performance in patients with sarcoma and the association between STS performance and the skeletal muscle index (SMI) and skeletal muscle density (SMD).

Methods: This study included 30 patients with sarcoma (15-39 years old) treated with high-dose doxorubicin. Patients performed the five-times-STS test before starting treatment and …

Enhanced Cd19 Activity In B Cells Contributes To Immunodeficiency In Mice Deficient In The Icf Syndrome Gene Zbtb24, Zhengzhou Ying, Swanand Hardikar, Joshua B Plummer, Tewfik Hamidi, Bin Liu, Yueping Chen, Jianjun Shen, Yunxiang Mu, Kevin M Mcbride, Taiping Chen

Faculty, Staff and Student Publications

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by DNA hypomethylation and antibody deficiency. It is caused by mutations in DNMT3B, ZBTB24, CDCA7, or HELLS. While progress has been made in elucidating the roles of these genes in regulating DNA methylation, little is known about the pathogenesis of the life-threatening hypogammaglobulinemia phenotype. Here, we show that mice deficient in Zbtb24 in the hematopoietic lineage recapitulate the major clinical features of patients with ICF syndrome. Specifically, Vav-Cre-mediated ablation of Zbtb24 does not affect lymphocyte development but results in reduced plasma cells and low levels …

Cortical Thickness Is Related To Variability In Heritage Bilingual Language Proficiency, My V H Nguyen, Kelly A Vaughn, Hannah Claussenius-Kalman, Pilar Archila-Suerte, Arturo E Hernandez

Faculty, Staff and Student Publications

Research suggests that bilingual experience is associated with gray matter changes, such that initial language gains are associated with expansion and language expertise is associated with renormalization. Previous studies on language proficiency development primarily focused on between-subjects, quasiexperimental comparisons of monolinguals and bilinguals. This study proposes a new paradigm to examine language expertise and cortical thickness within heritage bilinguals (

“Be Sustainable”: Eosc-Life Recommendations For Implementation Of Fair Principles In Life Science Data Handling, Romain David, Arina Rybina, Jean-Marie Burel, Jean-Karim Heriche, Pauline Audergon, Jan-Willem Boiten, Frederik Coppens, Sara Crockett, Katrina Exter, Sven Fahrner, Maddalena Fratelli, Carole Goble, Philipp Gormanns, Tobias Grantner, Björn Grüning, Kim Tamara Gurwitz, John M Hancock, Henriette Harmse, Petr Holub, Nick Juty, Geoffrey Karnbach, Emma Karoune, Antje Keppler, Jessica Klemeier, Carla Lancelotti, Jean-Luc Legras, Allyson L Lister, Dario Livio Longo, Rebecca Ludwig, Bénédicte Madon, Marzia Massimi, Vera Matser, Rafaele Matteoni, Michaela Th Mayrhofer, Christian Ohmann, Maria Panagiotopoulou, Helen Parkinson, Isabelle Perseil, Claudia Pfander, Roland Pieruschka, Michael Raess, Andreas Rauber, Audrey S Richard, Paolo Romano, Antonio Rosato, Alex Sánchez-Pla, Susanna-Assunta Sansone, Ugis Sarkans, Beatriz Serrano-Solano, Jing Tang, Ziaurrehman Tanoli, Jonathan Tedds, Harald Wagener, Martin Weise, Hans V Westerhoff, Rudolf Wittner, Jonathan Ewbank, Niklas Blomberg, Philip Gribbon

Faculty, Staff and Student Publications

The main goals and challenges for the life science communities in the Open Science framework are to increase reuse and sustainability of data resources, software tools, and workflows, especially in large-scale data-driven research and computational analyses. Here, we present key findings, procedures, effective measures and recommendations for generating and establishing sustainable life science resources based on the collaborative, cross-disciplinary work done within the EOSC-Life (European Open Science Cloud for Life Sciences) consortium. Bringing together 13 European life science research infrastructures, it has laid the foundation for an open, digital space to support biological and medical research. Using lessons learned from …

A Retrospective Examination Of Pain In Acute Stroke At Hospital Discharge, Deniz Dishman, Tia Lal, Christin Silos, Luyao Chen, Xiaoqian Jiang, Jennifer Beauchamp, Seema Aggarwal, Charles Green, Sean I Savitz

Faculty, Staff and Student Publications

Objectives: Pain is an overlooked sequela of stroke. Persistent pain after stroke is an underrecognized experience and significantly impacts survivors' function, ability to participate in rehabilitation, and quality of life. The aim of this retrospective, observational study is to examine the incidence of pain at the acute hospitalization period immediately after stroke, to identify the characteristics of those reporting pain at discharge, and to compare pain reporting between stroke and non-stroke hospital controls.

Materials and methods: Using discharge diagnosis, this retrospective review examined self- reports of pain during acute hospitalization for stroke compared to those with COPD (control group) admitted …

Physiological And Molecular Bases Of The Boron Deficiency Response In Tomatoes, Junjun Li, Huihui Fan, Qianqian Song, Lili Jing, Hao Yu, Ruishan Li, Ping Zhang, Fei Liu, Weimin Li, Liangliang Sun, Jin Xu

Faculty, Staff and Student Publications

Boron is an essential microelement for plant growth. Tomato is one of the most cultivated fruits and vegetables in the world, and boron deficiency severely inhibits its yield and quality. However, the mechanism of tomato in response to boron deficiency remains largely unclear. Here, we investigated the physiological and molecular bases of the boron deficiency response in hydroponically grown tomato seedlings. Boron deficiency repressed the expression of genes associated with nitrogen metabolism, while it induced the expression of genes related to the pentose phosphate pathway, thereby altering carbon flow to provide energy for plants to cope with stress. Boron deficiency …

Estradiol Mediates Colonic Epithelial Protection In Aged Mice After Stroke And Is Associated With Shifts In The Gut Microbiome, Juneyoung Lee, Pedram Peesh, Victoria Quaicoe, Chunfeng Tan, Anik Banerjee, Patrick Mooz, Bhanu P Ganesh, Joseph Petrosino, Robert M Bryan, Louise D Mccullough, Venugopal Reddy Venna

Faculty, Staff and Student Publications

The gut is a major source of bacteria and antigens that contribute to neuroinflammation after brain injury. Colonic epithelial cells (ECs) are responsible for secreting major cellular components of the innate defense system, including antimicrobial proteins (AMP) and mucins. These cells serve as a critical regulator of gut barrier function and maintain host-microbe homeostasis. In this study, we determined post-stroke host defense responses at the colonic epithelial surface in mice. We then tested if the enhancement of these epithelial protective mechanisms is beneficial in young and aged mice after stroke. AMPs were significantly increased in the colonic ECs of young …

Sam: Self-Adapting Mixture Prior To Dynamically Borrow Information From Historical Data In Clinical Trials, Peng Yang, Yuansong Zhao, Lei Nie, Jonathon Vallejo, Ying Yuan

Faculty, Staff and Student Publications

Mixture priors provide an intuitive way to incorporate historical data while accounting for potential prior-data conflict by combining an informative prior with a noninformative prior. However, prespecifying the mixing weight for each component remains a crucial challenge. Ideally, the mixing weight should reflect the degree of prior-data conflict, which is often unknown beforehand, posing a significant obstacle to the application and acceptance of mixture priors. To address this challenge, we introduce self-adapting mixture (SAM) priors that determine the mixing weight using likelihood ratio test statistics or Bayes factors. SAM priors are data-driven and self-adapting, favoring the informative (noninformative) prior component …