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Cytomegalovirus Immune Responses And Cognitive Impairment In People With Human Immunodeficiency Virus, Lakshmi Chauhan, Debashis Ghosh, Beau Ances, Katherine Tassiopoulos, Kunling Wu, Adriana Weinberg, Kristine M Erlandson Sep 2026

Cytomegalovirus Immune Responses And Cognitive Impairment In People With Human Immunodeficiency Virus, Lakshmi Chauhan, Debashis Ghosh, Beau Ances, Katherine Tassiopoulos, Kunling Wu, Adriana Weinberg, Kristine M Erlandson

2020-Current year OA Pubs

People with human immunodeficiency virus (HIV) have an earlier occurrence of aging complications, including cognitive impairment (CI). Chronic immune activation from cytomegalovirus (CMV) may contribute to increased inflammation and CI. We explored this association using several measures of CMV immune response among people with HIV (PWH). In a case-control design, we compared CMV immunoglobulin G (IgG), enzyme-linked immunospot (ELISpot), and flow cytometry between cases (subsequent CI) and controls (no CI). Baseline CMV IgG, CMV ELISpot, or flow measures were not associated with subsequent CI. This exploratory analysis supports larger studies using more nuanced immunophenotyping to clarify relationship between CMV and …


Turkish Translation And Cultural Adaptation Of The Evaluation In Ayres Sensory Integration (Easi), Aymen Balikci, Ayse Firdevs Aracikul Balikci, Isabelle Beaudry-Bellefeuille, Gamze Cagla Sirma, Fatos Kirteke, Zoe Mailloux, L. Diane Parham, Susanne Smith Roley, Roseann C. Schaaf Sep 2026

Turkish Translation And Cultural Adaptation Of The Evaluation In Ayres Sensory Integration (Easi), Aymen Balikci, Ayse Firdevs Aracikul Balikci, Isabelle Beaudry-Bellefeuille, Gamze Cagla Sirma, Fatos Kirteke, Zoe Mailloux, L. Diane Parham, Susanne Smith Roley, Roseann C. Schaaf

Department of Occupational Therapy Faculty Papers

INTRODUCTION: Cultural sensitivity and relevance are critical components for best practice in occupational therapy assessment. The Evaluation in Ayres Sensory Integration (EASI) is a performance-based assessment designed to evaluate sensory perception, sensory reactivity, postural control, ocular control, bilateral integration, and praxis abilities in children aged 3-12 years. Before the development of this tool, no standardized performance-based assessment of sensory integration functions had included a normative Turkish sample. The objective of this study was to translate and culturally adapt the EASI for Türkiye.

METHOD: A seven-step process for translation and cross-cultural adaptation, grounded in established methodology, was applied. The steps included …


Understanding The Lived Experiences Of Individuals With Post-Acute Sequelae Of Sars-Cov-2 Infection (Pasc) In Rwanda: A Phenomenological Qualitative Study, Iliza Grace Ndatinya, Simal Thind, Fernand Rwamwejo Sep 2026

Understanding The Lived Experiences Of Individuals With Post-Acute Sequelae Of Sars-Cov-2 Infection (Pasc) In Rwanda: A Phenomenological Qualitative Study, Iliza Grace Ndatinya, Simal Thind, Fernand Rwamwejo

Global Health Articles

OBJECTIVES: To qualitatively explore the lived experiences of individuals with post-acute sequelae of SARS-CoV-2 infection (PASC) in Rwanda, with the aim of informing context-appropriate interventions to improve patients' quality of life.

DESIGN: Qualitative, phenomenological study using in-depth interviews and thematic analysis.

SETTING: All provinces of Rwanda, including the City of Kigali.

PARTICIPANTS: Adults who tested positive for PASC during a nationwide prevalence study were purposively sampled across all study sites. A total of 30 people were interviewed before saturation was reached.

RESULTS: Participants' lived experiences with PASC were characterised by numerous themes. Despite describing significant life changes since their COVID-19 …


Feasibility And Acceptability Of Perioperative Application Of Biofeedback-Based Virtual Reality Vs Control For Pain And Anxiety In Children And Adolescents Undergoing Surgery: Pilot Randomized Controlled Trial, Anna Lin, Brenna Rachwal, Lindsey Asti, Zandantsetseg Orgil, Isabela Santiago, Lili Ding, Susmita Kashikar-Zuck, Christopher King, Sara Williams, William Black, Peter Minneci, Vanessa Olbrecht Sep 2026

Feasibility And Acceptability Of Perioperative Application Of Biofeedback-Based Virtual Reality Vs Control For Pain And Anxiety In Children And Adolescents Undergoing Surgery: Pilot Randomized Controlled Trial, Anna Lin, Brenna Rachwal, Lindsey Asti, Zandantsetseg Orgil, Isabela Santiago, Lili Ding, Susmita Kashikar-Zuck, Christopher King, Sara Williams, William Black, Peter Minneci, Vanessa Olbrecht

Department of Anesthesiology Faculty Papers

BACKGROUND: The impact of biofeedback-based virtual reality (VR-BF) on pain and anxiety in pediatric surgical patients remains unexplored.

OBJECTIVE: The objective of this study was to evaluate the feasibility and acceptability of perioperative VR-BF use in children and adolescents.

METHODS: We performed a single-blind, 2-arm, randomized pilot trial. Children aged 12 to 18 years undergoing surgery with expected moderate-to-severe postoperative pain and more than 1 overnight admission were randomized (1:1) to the intervention or control group. Participants in the intervention group received VR-BF using ForeVR (functional outcome response to engaging virtual reality [VR]), a novel, gamified digital intervention that integrates …


Operative Vs Non-Operative Management Of Ventral Hernia: A Population Based Study Of Long-Term Benefits And Consequences, Sourav Podder, Julia A. Baran, Scott H. Koeneman, Francesco Palazzo, Nicole L. Dugan, Christopher Keating, Sami Tannouri Sep 2026

Operative Vs Non-Operative Management Of Ventral Hernia: A Population Based Study Of Long-Term Benefits And Consequences, Sourav Podder, Julia A. Baran, Scott H. Koeneman, Francesco Palazzo, Nicole L. Dugan, Christopher Keating, Sami Tannouri

Department of Surgery Faculty Papers

Purpose: Ventral hernia (VH) management has progressed beyond simply physical repair of the defect. It now involves a strategy that purposefully restores abdominal core function and prevents future complications. This study investigates the association between ventral hernia repair (VHR) and functional disorders related to the abdominal core in addition to bowel obstruction, opioid misuse, and physical therapy utilization.

Methods: This retrospective cohort study used administrative codes from the TriNetX database. The outcomes of interest were spine and pelvic floor dysfunction, constipation, incontinence, genital prolapse, bowel obstruction, opioid misuse, and physical therapy utilization.

Results: A total of 587 384 patients were …


Association Between Nonsyndromic Congenital Heart Disease And Childhood Cancer In A Population-Based, Retrospective Cohort Of 11 Million Children, Jeremy M Schraw, Karin C Mims, Sara B Stephens, Sonja A Rasmussen, Emily J Mason, Tania A Desrosiers, Charles J Shumate, Wendy N Nembhard, Mahsa M Yazdy, Eirini Nestoridi, Amanda E Janitz, Jean Paul Tanner, Russell S Kirby, Jason L Salemi, Chad D Huff, Sharon E Plon, Shaine A Morris, Philip J Lupo Sep 2026

Association Between Nonsyndromic Congenital Heart Disease And Childhood Cancer In A Population-Based, Retrospective Cohort Of 11 Million Children, Jeremy M Schraw, Karin C Mims, Sara B Stephens, Sonja A Rasmussen, Emily J Mason, Tania A Desrosiers, Charles J Shumate, Wendy N Nembhard, Mahsa M Yazdy, Eirini Nestoridi, Amanda E Janitz, Jean Paul Tanner, Russell S Kirby, Jason L Salemi, Chad D Huff, Sharon E Plon, Shaine A Morris, Philip J Lupo

Faculty, Staff and Students Publications

Background: Epidemiologic studies have demonstrated associations between congenital heart disease (CHD) and childhood cancer. However, these assessments have not fully accounted for the pathogenetic and clinical heterogeneity of CHD, limiting their capacity to inform pathogenetic studies and the clinical management of children with CHD.

Methods: To achieve a more detailed understanding of cancer risk in children with nonsyndromic CHD, we evaluated 60 cardiac lesions in 7 categories in a cohort of 11 million children from Massachusetts, North Carolina, Oklahoma, and Texas. We used Cox proportional hazards regression to estimate the hazard ratios (HRs) and 95% CIs of cancer in children …


Strengthening Health System-Community Partnerships To Address Pediatric Social Needs: A Qualitative Study, Joy Friedman, Melissa A. Alderfer, Kelsey Higgins, Aaron Carpenter, Jennifer Sciolla, Sarah E. Wawrzynski Sep 2026

Strengthening Health System-Community Partnerships To Address Pediatric Social Needs: A Qualitative Study, Joy Friedman, Melissa A. Alderfer, Kelsey Higgins, Aaron Carpenter, Jennifer Sciolla, Sarah E. Wawrzynski

Department of Pediatrics Faculty Papers

IntroductionStructural and social conditions influence pediatric health outcomes. Successful implementation of social needs screening and referral programs depends on community-based organizations (CBOs) to provide resources that address health-related social needs (HRSN). We explored current practices and perspectives of health care workers and CBO representatives on improving health system-CBO partnerships.MethodsParticipants were purposively recruited from a variety of health care settings involved in HRSN screening and CBOs delivering resources in the community. Participants completed semi-structured interviews. Qualitative thematic analysis was used to summarize data.ResultsTen key informants participated (six health care workers and four CBO representatives). Four themes were identified: 1) mismatches in …


Intensive Longitudinal Assessment Of Stress And Stress-Related Concepts Across A Weight Loss Program: Protocol For A Longitudinal Ecological Momentary Assessment Study., Chelsea L. Kracht, Ann M. Davis, Udayan Apte, Madigan Snodgrass, Taylor Y. Collier, Jeffery J. Honas, John M. Jakicic Sep 2026

Intensive Longitudinal Assessment Of Stress And Stress-Related Concepts Across A Weight Loss Program: Protocol For A Longitudinal Ecological Momentary Assessment Study., Chelsea L. Kracht, Ann M. Davis, Udayan Apte, Madigan Snodgrass, Taylor Y. Collier, Jeffery J. Honas, John M. Jakicic

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Fluctuations in daily stress and the inability to cope with this stress (i.e., coping) can negatively impact behavior and potentially weight loss. Longitudinal studies using ecological momentary assessment (EMA) of psychological factors and behavior may inform interventions that can be adapted in real-time to modify stress and stress-related factors to enhance weight loss. This study's purpose is to examine variability in stress and stress-related concepts and weight loss during a behavioral weight loss program with the intent of this informing future interventions.

METHODS: Individuals with obesity (body mass index: ≥ 30 kg/m2) who are newly enrolled in an existing …


Diversity Among Academic Orthopaedic Surgery Sports Medicine Faculty Across Us Residency Programs, Terence L. Thomas, Alexander Zavitsanos, Claude Regis, John Czarnicki, Harrison S. Fellheimer, Gabriel I. Onor, William Justice, Jalen Broome, Damon V. Briggs, Edward S. Chang, Meghan Bishop, Christopher C. Dodson Sep 2026

Diversity Among Academic Orthopaedic Surgery Sports Medicine Faculty Across Us Residency Programs, Terence L. Thomas, Alexander Zavitsanos, Claude Regis, John Czarnicki, Harrison S. Fellheimer, Gabriel I. Onor, William Justice, Jalen Broome, Damon V. Briggs, Edward S. Chang, Meghan Bishop, Christopher C. Dodson

Rothman Institute Papers

BACKGROUND: Despite growing attention to workforce diversity in orthopaedic surgery, limited data exist describing the demographic composition of academic sports medicine faculty. This study examines the diversity of sports medicine fellowship-trained orthopaedic surgery faculty across US orthopaedic surgery residency training programs.

METHODS: A cross-sectional analysis of all ACGME-accredited orthopaedic surgery sports medicine faculty was conducted. Faculty data included sex, race, level of professorship, residency attended, year of residency graduation, and h-index. Underrepresented in Orthopaedics (URiO) was defined as non-White and non-Asian by race and all women. Descriptive statistics were performed.

RESULTS: A total of 812 sports medicine-fellowship trained faculty were …


Universal Screening For Measles Immunity During Pregnancy: A Cost-Effectiveness Analysis, Anuradha Devabhaktuni, Sarah Boudova, Elias Kassir, Sohum Shah, Neil S. Silverman, Christina S. Han Sep 2026

Universal Screening For Measles Immunity During Pregnancy: A Cost-Effectiveness Analysis, Anuradha Devabhaktuni, Sarah Boudova, Elias Kassir, Sohum Shah, Neil S. Silverman, Christina S. Han

Department of Obstetrics and Gynecology Faculty Papers

BACKGROUND: Measles is a highly contagious illness capable of causing significant morbidity and mortality, including adverse pregnancy outcomes. Routine screening for measles immunity is not currently recommended during pregnancy. Given the increasing frequency of measles outbreaks nationally and globally, awareness of measles immunity status can influence management of pregnant individuals who incur measles exposures and offer an opportunity for postpartum or preconception vaccination.

OBJECTIVE: We sought to evaluate the cost-effectiveness of universal screening for measles immunity during pregnancy in the United States.

STUDY DESIGN: A decision-analytic model was constructed to evaluate the cost-effectiveness of universal screening for measles immunity during …


Distinct Mutational Landscapes For Germline And Somatic Cancer Variants In Forty Tumor Suppressor Genes, Suhasini D Lulla, Deborah I Ritter, Chimene Kesserwan, Sharon E Plon Sep 2026

Distinct Mutational Landscapes For Germline And Somatic Cancer Variants In Forty Tumor Suppressor Genes, Suhasini D Lulla, Deborah I Ritter, Chimene Kesserwan, Sharon E Plon

Faculty, Staff and Students Publications

Germline and somatic cancer variants in tumor suppressor genes (TSGs) share loss-of-function mechanisms, but studies of a few genes (DICER1 and CEBPA) have demonstrated differences in variant consequence and location. To systematically assess whether TSGs display distinct mutational patterns, we leveraged large public genetic databases and compared 32,941 high-quality pathogenic/likely pathogenic (P/LP) germline variants in ClinVar, with 12,907 oncogenic/likely oncogenic (O/LO) somatic tumor variants from cBioPortal across 40 TSGs. Only 3,863 (9.2%) variants were shared. Eighteen TSGs showed significantly different distributions of variant occurrences by molecular consequence, replicated with non-overlapping somatic data from the COSMIC database (chi-squared tests, false discovery …


Current State And Needs Of Clinical Laboratories In Selected Countries In Africa, Merih Tesfazghi, Anne E Tebo, Roa Harb, Anthony O Okorodudu, Lee Schroeder, Jeannette Guarner, Christine Bales, Jack Ladenson, Allison Targowski, Kerry Cosby, Olajumoke Oladipo Sep 2026

Current State And Needs Of Clinical Laboratories In Selected Countries In Africa, Merih Tesfazghi, Anne E Tebo, Roa Harb, Anthony O Okorodudu, Lee Schroeder, Jeannette Guarner, Christine Bales, Jack Ladenson, Allison Targowski, Kerry Cosby, Olajumoke Oladipo

2020-Current year OA Pubs

The Africa Working Group, under the auspices of the Global Laboratory Quality Initiative of the Association for Diagnostics & Laboratory Medicine (ADLM), conducted several educational workshops in Africa to promote laboratory quality in the region. The challenges faced in maintaining quality in clinical laboratories in low-resource countries may differ from region to region and country to country. To better understand current gaps and inform our engagement with partners in Africa, a needs assessment survey was distributed to 1427 ADLM members in Africa and further disseminated through local partners, resulting in 121 responses from participants across 8 countries in the region. …


Benchmarking Institutional Support For Point-Of-Care Testing Programs: Scale, Staffing, And Operational Challenges, Min Yu, Nam K Tran, Julie L V Shaw, Nicholas E Larkey, Nicole V Tolan, Andrew Szczembara, Leslie J Donato, Robert D Maynard, Adil I Khan Sep 2026

Benchmarking Institutional Support For Point-Of-Care Testing Programs: Scale, Staffing, And Operational Challenges, Min Yu, Nam K Tran, Julie L V Shaw, Nicholas E Larkey, Nicole V Tolan, Andrew Szczembara, Leslie J Donato, Robert D Maynard, Adil I Khan

2020-Current year OA Pubs

BACKGROUND: Point-of-care testing (POCT) has expanded rapidly across healthcare systems, increasing both program scale and operational complexity. However, quantitative benchmarking data describing how POCT programs are structured and supported across institutions remain limited.

METHODS: We conducted a cross-sectional survey to characterize POCT program support, including program scope, staffing, operational practices, governance, and challenges. The survey was distributed electronically through professional networks, and 93 institutional responses were analyzed. Descriptive analyses were performed, and derived metrics, including sites per point-of-care testing coordinator (POCC), were used to evaluate the relationship between program scale and staffing.

RESULTS: POCT programs demonstrated substantial variability in scale, …


Isolated Perianal Fistulizing Crohn's Disease In Contemporary Clinical Practice: A Multicenter Ecco-Confer Cohort Study, Kumarini Basnayake, Parakkal Deepak, Sami Samaan, Et Al. Sep 2026

Isolated Perianal Fistulizing Crohn's Disease In Contemporary Clinical Practice: A Multicenter Ecco-Confer Cohort Study, Kumarini Basnayake, Parakkal Deepak, Sami Samaan, Et Al.

2020-Current year OA Pubs

BACKGROUND AND AIMS: Isolated perianal fistulizing Crohn's disease (IPFCD) is an uncommon presentation of Crohn's disease with an uncertain natural history. We aimed to characterize contemporary diagnostic strategies, management approaches, and long-term outcomes, including progression to luminal Crohn's disease.

METHODS: We conducted a retrospective multicenter cohort study across 25 centers within the ECCO-CONFER network. Adult patients with IPFCD and no evidence of luminal Crohn's disease at baseline were included. The primary outcome was progression to luminal Crohn's disease. Secondary outcomes included clinical and radiological fistula response and patterns of medical and surgical management. Time-to-event analyses were performed using Kaplan-Meier methods. …


Assessment Of Timp1, Transgelin-2, And Procalcitonin As Protein Biomarkers For Diagnosis And Prognosis Of Bloodstream Infection In A Critically Ill Cohort, Sajal Tiwary, Caroline A O'Neil, Sydney Lawless, Olivia Arter, Meghan Brown, Brittany Roemmich, Carleigh Samuels, Jennie H Kwon, Christopher W Farnsworth Sep 2026

Assessment Of Timp1, Transgelin-2, And Procalcitonin As Protein Biomarkers For Diagnosis And Prognosis Of Bloodstream Infection In A Critically Ill Cohort, Sajal Tiwary, Caroline A O'Neil, Sydney Lawless, Olivia Arter, Meghan Brown, Brittany Roemmich, Carleigh Samuels, Jennie H Kwon, Christopher W Farnsworth

2020-Current year OA Pubs

BACKGROUND: Bloodstream infections (BSI) are a significant contributor to morbidity and mortality among hospitalized patients. Rapid diagnosis of BSI is critical for timely and appropriate clinical management, but current diagnostic strategies have a prolonged turnaround time or only identify select pathogens with minimal prognostic information.

METHODS: We examined serial serologic samples from 77 intensive care unit (ICU) patients at time points before, during, and after diagnosis of presumptive BSI to identify host-derived protein biomarkers associated with specific organisms and with clinical outcomes in BSI. ICU patients with and without BSI were included. Two candidate biomarkers, tissue metalloproteinase 1 (TIMP-1) and …


Androgens Mediate Sexual Dimorphism In Pilarowski-Bjornsson Syndrome., Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak A. Alghamdi, Naif A M Almontashiri, Brenda J. Barry, Matthias Begemann, Jacquelyn F. Britton, Sarah Burke, Benjamin Cogne, Ana S A Cohen, Carles De Diego Boguñá, Evan E. Eichler, Elizabeth C. Engle, Jill A. Fahrner, Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W. Gao, Gunjan Garg, Dagmar Grečmalová, Mina Grippa, Jacqueline R. Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Meral Aktas Koptagel, Farah A. Ladha, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Andreina Minicucci, Emily Neuhaus, Mathilde Nizon, Lenka Nosková, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H. Robin, Carey Ronspies, Jasmin Roohi, Jill Rosenfeld, Margarita Saenz, Carol J. Saunders, Zornitza Stark, Isabelle Thiffault, Sarah Thull, Danita Velasco, Clara Velmans, Jolijn Verseput, Antonio Vitobello, Tianyun Wang, Karin Weiss, Ingrid M. Wentzensen, Genay Pilarowski, Thor Eysteinsson, Madelyn Gillentine, Kári Stefánsson, Agnar Helgason, Gregory D. Bowman, Hans Tomas Bjornsson Sep 2026

Androgens Mediate Sexual Dimorphism In Pilarowski-Bjornsson Syndrome., Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak A. Alghamdi, Naif A M Almontashiri, Brenda J. Barry, Matthias Begemann, Jacquelyn F. Britton, Sarah Burke, Benjamin Cogne, Ana S A Cohen, Carles De Diego Boguñá, Evan E. Eichler, Elizabeth C. Engle, Jill A. Fahrner, Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W. Gao, Gunjan Garg, Dagmar Grečmalová, Mina Grippa, Jacqueline R. Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Meral Aktas Koptagel, Farah A. Ladha, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Andreina Minicucci, Emily Neuhaus, Mathilde Nizon, Lenka Nosková, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H. Robin, Carey Ronspies, Jasmin Roohi, Jill Rosenfeld, Margarita Saenz, Carol J. Saunders, Zornitza Stark, Isabelle Thiffault, Sarah Thull, Danita Velasco, Clara Velmans, Jolijn Verseput, Antonio Vitobello, Tianyun Wang, Karin Weiss, Ingrid M. Wentzensen, Genay Pilarowski, Thor Eysteinsson, Madelyn Gillentine, Kári Stefánsson, Agnar Helgason, Gregory D. Bowman, Hans Tomas Bjornsson

Manuscripts, Articles, Book Chapters and Other Papers

Sex-specific penetrance in autosomal-dominant Mendelian conditions is largely understudied. The neurodevelopmental disorder Pilarowski-Bjornsson syndrome (PILBOS) was initially described in females. Here, we describe the clinical and genetic characteristics of the largest PILBOS cohort to date, showing that both sexes can exhibit PILBOS features, although males are overrepresented. A mouse model carrying a human-derived Chd1 missense variant (Chd1R616Q/+) displays female-restricted phenotypes, including growth deficiency, anxiety, and hypotonia. Orchiectomy unmasks a growth-deficiency phenotype in male Chd1R616Q/+ mice, while testosterone rescues the phenotype in females, implicating androgens in phenotype modulation. In the gnomAD and UK Biobank databases, rare missense variants …


Hunting For Microsatellite Instability In Long-Read Data With Owl., Zev Kronenberg, Byunggil Yoo, Khi Pin Chua, Mark J P Chaisson, Lisa Lansdon, William J. Rowell, Guilherme De Sena Brandine, Jocelyne Bruand, Egor Dolzhenko, Kobe Ikegami, Jay Sarthy, Kie Kyon Huang, Patrick Tan, Shruti Bhise, Everett Fan, Mark Mendoza, Emily O'Donnell, Tomi Pastinen, Elizabeth R. Lawlor, Scott N. Furlan, Midhat S. Farooqi, Michael A. Eberle Sep 2026

Hunting For Microsatellite Instability In Long-Read Data With Owl., Zev Kronenberg, Byunggil Yoo, Khi Pin Chua, Mark J P Chaisson, Lisa Lansdon, William J. Rowell, Guilherme De Sena Brandine, Jocelyne Bruand, Egor Dolzhenko, Kobe Ikegami, Jay Sarthy, Kie Kyon Huang, Patrick Tan, Shruti Bhise, Everett Fan, Mark Mendoza, Emily O'Donnell, Tomi Pastinen, Elizabeth R. Lawlor, Scott N. Furlan, Midhat S. Farooqi, Michael A. Eberle

Manuscripts, Articles, Book Chapters and Other Papers

Microsatellite instability (MSI) is a key biomarker of mismatch repair deficiency and response to immunotherapy, yet most existing genomic detection methods are optimized for short-read sequencing and rely on a panel of homopolymer markers, limiting the ability to characterize genome-wide and motif-specific patterns of instability. Here we present Owl, a bioinformatic tool for quantifying MSI from long-read (PacBio) genomic data. Owl leverages a genome-wide marker set of more than 140,000 microsatellite repeats ranging from 1-6 bp in length to measure MSI across a phased genome. Using a wrap-around alignment algorithm, Owl constructs repeat-length distributions at each marker site and flags …


Loss Of Function Dnmt3a Mutation Leads To Aberrant Neutrophil Migration, Frieda Zimmer, Daniel E Kennedy, Spencer L Redding, Ruoqiong Cao, Sarah M Waldvogel, Apoorva Thatavarty, Bryan Bahoua, Brandon T Tran, Arushana A Maknojia, Margaret A Goodell, Antony Rodriguez, Katie A Matatall, Katherine Y King Sep 2026

Loss Of Function Dnmt3a Mutation Leads To Aberrant Neutrophil Migration, Frieda Zimmer, Daniel E Kennedy, Spencer L Redding, Ruoqiong Cao, Sarah M Waldvogel, Apoorva Thatavarty, Bryan Bahoua, Brandon T Tran, Arushana A Maknojia, Margaret A Goodell, Antony Rodriguez, Katie A Matatall, Katherine Y King

Faculty, Staff and Students Publications

Clonal hematopoiesis (CH), an age-related expansion of somatically mutated hematopoietic clones, is associated with increased risk of severe infections including coronavirus disease (COVID)-19, yet the underlying mechanisms remain unclear. Here, we investigated the impact of Dnmt3a deficiency in a murine model of influenza A virus (IAV) pneumonia. Dnmt3a-deficient mice exhibited increased pulmonary viral burden and reduced neutrophil accumulation in IAV-infected lungs despite comparable circulating neutrophil numbers. Functional analyses of neutrophils showed impaired chemotactic migration in vitro, whereas maturation, antimicrobial enzyme content, and metabolic capacity were unchanged. Transcriptomic profiling revealed downregulation of pathways involved in chemotaxis, cytokine signaling, and cellular activation, …


Measuring Quality Of Life In Advanced Chronic Liver Disease With Fact-Hep: Findings From The Pal Liver Trial, Manisha Verma, Binu John, Don Rockey, Sid Barritt, Victor Navarro, Linda Shaw, Andrzej Kosinski, Elliot Tapper, Archita Desai Sep 2026

Measuring Quality Of Life In Advanced Chronic Liver Disease With Fact-Hep: Findings From The Pal Liver Trial, Manisha Verma, Binu John, Don Rockey, Sid Barritt, Victor Navarro, Linda Shaw, Andrzej Kosinski, Elliot Tapper, Archita Desai

Einstein Health Papers

BACKGROUND: Patient-reported outcome measures (PROMs) are increasingly incorporated into hepatology research, yet few have been rigorously evaluated, particularly among patients with decompensated cirrhosis. The Functional Assessment of Cancer Therapy-Hepatobiliary (FACT-Hep) captures multidimensional liver disease-specific burden, while the disease-agnostic PROMIS-29 assesses physical and mental health broadly. We evaluated the performance of FACT-Hep and its relationship to PROMIS-29 among participants with cirrhosis or hepatocellular carcinoma (HCC) enrolled in a prospective multicenter clinical trial.

METHODS: Baseline data were analyzed from 935 participants enrolled in the PAL LIVER trial. This study enrolled patients with Child-Turcotte-Pugh (CTP) B/C cirrhosis and/or with HCC. Health-related quality of …


Cerebellar Atrophy In Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study, Rebecca Macrae, Kierstin Hederstedt, Christopher Cortina, Kumaran Deiva, Andrea Klein, Ming Lim, Thomas Rossor, Elizabeth A Sokol, Yasmin Khakoo, Nikita Malani Shukla, Timothy E Lotze, Wendy G Mitchell, Sarah Hopkins, Bo Zhang, Mark P Gorman Sep 2026

Cerebellar Atrophy In Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study, Rebecca Macrae, Kierstin Hederstedt, Christopher Cortina, Kumaran Deiva, Andrea Klein, Ming Lim, Thomas Rossor, Elizabeth A Sokol, Yasmin Khakoo, Nikita Malani Shukla, Timothy E Lotze, Wendy G Mitchell, Sarah Hopkins, Bo Zhang, Mark P Gorman

Faculty, Staff and Students Publications

Background and objectives: Pediatric-onset opsoclonus-myoclonus-ataxia syndrome (POOMAS) is a rare, neuroinflammatory syndrome that targets the cerebellum and can cause irreversible cerebellar structural changes, namely cerebellar atrophy. We investigated the frequency of cerebellar atrophy, as well as associated risk factors and functional outcome measures, using the largest active POOMAS registry.

Methods: This was a retrospective observational study of participants with POOMAS with disease onset from 1995 to 2025 using data from the multinational, multicenter POOMAS registry. Variables were compared between the cerebellar atrophy subgroups using the Fisher exact test or Wilcoxon rank-sum test.

Results: Of participants with follow-up imaging, cerebellar atrophy …


Nf1 Loss In Estrogen Receptor-Positive Breast Cancer Induces Osteoclast Formation And Immunosuppression To Promote Bone Metastasis, Zifan Zhao, Ze-Yi Zheng, Jonathan T Lei, Matthew J Baik, Yi-Hsuan Wu, Lauren K Somes, Andres F Mosquera Paternina, Omar A Harb, Owen A Chang, Fengshuo Liu, Matthew V Holt, Junkai Wang, Igor Bado, Hai Wang, George Miles, Zbigniew Gugala, Meenakshi Anurag, Ahmed Elkhanany, Yi Li, Valentina Hoyos, Xiang H-F Zhang, Eric C Chang Sep 2026

Nf1 Loss In Estrogen Receptor-Positive Breast Cancer Induces Osteoclast Formation And Immunosuppression To Promote Bone Metastasis, Zifan Zhao, Ze-Yi Zheng, Jonathan T Lei, Matthew J Baik, Yi-Hsuan Wu, Lauren K Somes, Andres F Mosquera Paternina, Omar A Harb, Owen A Chang, Fengshuo Liu, Matthew V Holt, Junkai Wang, Igor Bado, Hai Wang, George Miles, Zbigniew Gugala, Meenakshi Anurag, Ahmed Elkhanany, Yi Li, Valentina Hoyos, Xiang H-F Zhang, Eric C Chang

Faculty, Staff and Students Publications

Estrogen receptor-positive (ER+) breast cancer exhibits a marked propensity for skeletal metastasis; however, the molecular drivers of bone colonization remain incompletely defined. We investigated the tumor suppressor neurofibromin (NF1), a dual repressor for RAS and ER signaling, whose inactivation promotes endocrine therapy (ET) resistance and is associated with inferior relapse-free survival. NF1 copy number loss was detected in 62% of ER+ patients who subsequently developed metastases and was associated with an increased likelihood of bone metastases at initial diagnosis. In mouse xenograft models, NF1-depleted ER+ breast cancer cells demonstrated enhanced dissemination to skeletal sites following surgical resection of primary tumors. …


Towards Human-Centered Digital Health Interventions, Kristin M Kostick-Quenet, Eric A Storch Sep 2026

Towards Human-Centered Digital Health Interventions, Kristin M Kostick-Quenet, Eric A Storch

Center for Medical Ethics and Health Policy Staff Publications

This article discusses the potential of digital health interventions (DHIs) in mental health care, emphasizing the importance of designing them to foster genuine humanistic care. It highlights current challenges in measuring engagement and outcomes, advocating for integrating human-centered endpoints such as dignity, autonomy, and therapeutic alliance into evaluation frameworks. The authors call for mechanistic research to identify effective engagement strategies and context-specific implementation approaches. Ultimately, successful DHIs should demonstrate both clinical efficacy and the preservation of humane, person-centered care, ensuring ethical and meaningful mental health support through technology.


Skin Carotenoid Scores Are A Valid Approximation Of Fruit And Vegetable Intake Among Adults With Obesity, Stephanie B Jilcott Pitts, Qiang Wu, Elizabeth Gates, Melissa N Laska, Andrew R Dinardo, Nancy E Moran Sep 2026

Skin Carotenoid Scores Are A Valid Approximation Of Fruit And Vegetable Intake Among Adults With Obesity, Stephanie B Jilcott Pitts, Qiang Wu, Elizabeth Gates, Melissa N Laska, Andrew R Dinardo, Nancy E Moran

Children’s Nutrition Research Center Staff Publications

Skin carotenoid score (SCS) as measured using pressure-mediated reflection spectroscopy has been validated among adults with normal and overweight body mass index, with little validation research among adults with obesity. Therefore, the purpose of this exploratory study was to examine the validity of SCS as an approximation of fruit and vegetable intake among adults with obesity. We used samples from adults with obesity from three prior studies: The first study examined the validity of SCS among 213 adults, 34 with obesity; the second, examined sensitivity of SCS to a β-carotene-rich juice intervention among 162 adults, 14 with obesity; the third …


Closing Gaps In Urban Trauma Systems: Outcomes Of An Inner-City Community Emergency Department Multidisciplinary Trauma Protocol, Kory S. London, Alan Cherney, Sulabh Neupane, H. Alex Tomlinson, Joseph Cervone, Elaine Qian, Casey Fishman, Jennifer Davis, Sean Mcgann, Varsha Goswami, George Koenig, Frederick Randolph Sep 2026

Closing Gaps In Urban Trauma Systems: Outcomes Of An Inner-City Community Emergency Department Multidisciplinary Trauma Protocol, Kory S. London, Alan Cherney, Sulabh Neupane, H. Alex Tomlinson, Joseph Cervone, Elaine Qian, Casey Fishman, Jennifer Davis, Sean Mcgann, Varsha Goswami, George Koenig, Frederick Randolph

Department of Emergency Medicine Faculty Papers

BACKGROUND: Non-trauma center (NTC) emergency departments (EDs) play regular but underappreciated roles in the management of severely injured patients, yet many lack formal protocols to guide care. We describe the implementation and outcomes of a structured trauma evaluation and transfer protocol at an urban NTC emergency department.

METHODS: A multidisciplinary trauma protocol was implemented on April 1, 2023, at an urban NTC, supported by a Level I trauma center, 2.5 miles apart. The study period ran from January 1, 2019, to June 30, 2025. Using pre-post study design, 62 patients treated prior to implementation were compared with 49 post-intervention patients. …


A National Study Of Tetanus Vaccine Knowledge, Receipt And Acceptance Among Emergency Department Patients, Francesco Sergi, Elisa Vaezazizi, Shaokui Ge, Christopher Alvarez, Jesus Torres, Brian Chinnock, Michael Gottlieb, Vijaya Arun Kumar, Kristin L. Rising, Efrat Kean, Stephanie Eucker, Robert M. Rodriguez Sep 2026

A National Study Of Tetanus Vaccine Knowledge, Receipt And Acceptance Among Emergency Department Patients, Francesco Sergi, Elisa Vaezazizi, Shaokui Ge, Christopher Alvarez, Jesus Torres, Brian Chinnock, Michael Gottlieb, Vijaya Arun Kumar, Kristin L. Rising, Efrat Kean, Stephanie Eucker, Robert M. Rodriguez

Department of Emergency Medicine Faculty Papers

OBJECTIVE: The Tetanus, Diphtheria, Pertussis (Tdap, "tetanus") vaccine is recommended for adults every 10 years. In a national sample of adult emergency department (ED) patients, we sought to determine (1) knowledge and up-to-date status of the tetanus vaccine; (2) reasons for nonreceipt of the vaccine; (3) vaccine acceptability if offered in the ED; and (4) reasons for nonacceptance in the ED if offered.

METHODS: This was a cross-sectional survey study among non-critically ill adults at 10 US EDs, asking questions about knowledge, receipt, and acceptability of the tetanus vaccine. Vaccine receipt was determined by self-report. Aggregate responses are reported as …


An Observational Study Of The Effect Of Concomitant Levetiracetam On Apixaban Concentrations In A Hospital Cohort, Chazmyn Riley, Kevin Lam, Cristina Micale, Lynda Thomson, Douglas F. Stickle, Walter K. Kraft Sep 2026

An Observational Study Of The Effect Of Concomitant Levetiracetam On Apixaban Concentrations In A Hospital Cohort, Chazmyn Riley, Kevin Lam, Cristina Micale, Lynda Thomson, Douglas F. Stickle, Walter K. Kraft

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Despite the lack of evidence of a mechanism-based drug interaction, some professional organizations have advised caution coadministering apixaban and levetiracetam. Eligible patients taking apixaban with or without levetiracetam for any indication for at least 72 h were screened from the electronic medical records. Plasma samples from 77 patients were retrieved from salvaged clinical blood collections. Apixaban minimum and maximum concentrations (Cmin and Cmax) were compared using descriptive statistics in R. While the median Cmin and Cmax appear to be marginally elevated, there were no apparent differences relative to apixaban alone. These findings suggest no apparent interaction of levetiracetam and support …


Postoperative Complications In Patients With Sickle Cell Disease After Total Shoulder Arthroplasty, Katie Zehner, Gwyneth C. Maloy, John Slevin, Wesley Day, Mitchell K. Ng, Xuan Luo, Jonathan N. Grauer, Arya G. Varthi Sep 2026

Postoperative Complications In Patients With Sickle Cell Disease After Total Shoulder Arthroplasty, Katie Zehner, Gwyneth C. Maloy, John Slevin, Wesley Day, Mitchell K. Ng, Xuan Luo, Jonathan N. Grauer, Arya G. Varthi

Rothman Institute Papers

BACKGROUND: Sickle cell disease (SCD) encompasses a spectrum of genetic hematologic disorders characterized by erythrocyte sickling. Patients may experience musculoskeletal manifestations, such as osteonecrosis, which may warrant consideration for total shoulder arthroplasty (TSA). While prior literature suggests patients with SCD more frequently suffer complications after orthopaedic procedures, this is not well characterized for TSA.

METHODS: Adult TSA patients (older than 18 years) were identified in the 2010 to 2023 PearlDiver M170 database. Patients with SCD were matched 1:4 to patients without SCD based on age, sex, and Elixhauser Comorbidity Index (ECI). Ninety-day postoperative complications, emergency department (ED) visits, and readmissions …


Timing Of Isotretinoin Exposure And Early Postoperative Complications After Anterior Cruciate Ligament Reconstruction, Areeb Ahmad, Ronald J. Shamus, Kassem Ghayyad, Daryl C. Osbahr, Adam J. Money, Michael G. Ciccotti, George J. Richard Sep 2026

Timing Of Isotretinoin Exposure And Early Postoperative Complications After Anterior Cruciate Ligament Reconstruction, Areeb Ahmad, Ronald J. Shamus, Kassem Ghayyad, Daryl C. Osbahr, Adam J. Money, Michael G. Ciccotti, George J. Richard

Rothman Institute Papers

INTRODUCTION: Isotretinoin (ITN) is widely prescribed for severe acne in adolescents and young adults, a population where anterior cruciate ligament reconstruction (ACLR) is commonly performed. Long-standing concerns about impaired wound healing have prompted many surgeons to delay procedures, despite limited orthopaedic-specific evidence. This retrospective case series evaluates early postoperative clinical complications in patients with documented ITN exposure undergoing ACLR.

METHODS: We retrospectively reviewed primary ACLR cases from 2015 to 2025 at a multisite orthopaedic practice with documented ITN exposure within 12 months of surgery and at least 3 months of follow-up. ITN exposure was categorized as perioperative (≤10 days), recent …


Lidocaine Combined With Low-Dose Esketamine For Movement-Evoked Pain After Hepatectomy: A Double-Blind Randomised Controlled Trial, Yan Xu, Li Zhou, Qianqian Tang, Feng Yu, Jingwen Wu, Siyu Yan, Min Cai, Jialu Wan, Yi Kang, Lajing Luowu, Mengmeng Zhou, Lulong Bo, Daniel I Sessler, Chunling Jiang Sep 2026

Lidocaine Combined With Low-Dose Esketamine For Movement-Evoked Pain After Hepatectomy: A Double-Blind Randomised Controlled Trial, Yan Xu, Li Zhou, Qianqian Tang, Feng Yu, Jingwen Wu, Siyu Yan, Min Cai, Jialu Wan, Yi Kang, Lajing Luowu, Mengmeng Zhou, Lulong Bo, Daniel I Sessler, Chunling Jiang

Faculty, Staff and Student Publications

Introduction: Pain following hepatectomy may delay recovery and increase opioid use. We tested the primary hypothesis that combining lidocaine and low-dose esketamine would reduce movement-evoked pain 24 h after hepatic resection. We also evaluated whether this approach reduced opioid consumption and improved quality of recovery.

Methods: Patients having elective hepatic resections were allocated randomly to receive lidocaine-esketamine or placebo from induction of anaesthesia until the end of surgery. After surgery, patients allocated to lidocaine-esketamine were given a continuous infusion of lidocaine with esketamine for 72 h. All patients received transversus abdominis plane blocks with ropivacaine 2 mg.kg-1 after induction of …


Hydroxyethyl Starch And Perioperative Complications: A Systematic Review And Meta-Analysis, Daniel I Sessler, Lorenzo Pradelli, Massimiliano Povero, Daniel Chappell, E Wang Sep 2026

Hydroxyethyl Starch And Perioperative Complications: A Systematic Review And Meta-Analysis, Daniel I Sessler, Lorenzo Pradelli, Massimiliano Povero, Daniel Chappell, E Wang

Faculty, Staff and Student Publications

Background: Based on renal injury reported in critically ill and septic patients, the U.S. Food and Drug Administration issued a black box warning regarding hydroxyethyl starch (HES 130/0.4) use in 2013 and expanded the warning to surgical and trauma patients in 2021. Similarly, the European Medicines Agency initiated withdrawal of hydroxyethyl starch in 2022. This study was a new meta-analysis focused on renal injury designed to complement a 2021 meta-analysis of perioperative hydroxyethyl starch use, adding 45 trials and 6,895 patients. The focus was acute kidney injury and preoperative-to-postoperative change in creatinine concentration in surgical patients.

Methods: This study searched …