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Efficacy And Safety Of Frail Patients Treated With Ciltacabtagene Autoleucel In The Real World: A Center For International Blood And Marrow Transplant Research Analysis., Hira Mian, Muhammad Salman Faisal, Tiening Chen, Ruta Brazauskas, Temitope Oloyede, Nausheen Ahmed, Aimaz Afrough, Larry D Anderson, Rahul Banerjee, Jesus Berdeja, Aram Bidikian, Jakob Devos, Binod Dhakal, Ajoy Dias, Danai Dima, Yvonne A Efebera, Lohith Gowda, Doris K Hansen, Hamza Hashmi, Heather J Landau, Lazaros Lekakis, Abu-Sayeef Mirza, Ravi Narra, Krina Patel, Ashley E Rosko, Mark Schroeder, Surbhi Sidana, Saad Usmani, Marcelo C Pasquini, Taiga Nishihori, Othman Salim Akhtar, Meera Mohan Oct 2026

Efficacy And Safety Of Frail Patients Treated With Ciltacabtagene Autoleucel In The Real World: A Center For International Blood And Marrow Transplant Research Analysis., Hira Mian, Muhammad Salman Faisal, Tiening Chen, Ruta Brazauskas, Temitope Oloyede, Nausheen Ahmed, Aimaz Afrough, Larry D Anderson, Rahul Banerjee, Jesus Berdeja, Aram Bidikian, Jakob Devos, Binod Dhakal, Ajoy Dias, Danai Dima, Yvonne A Efebera, Lohith Gowda, Doris K Hansen, Hamza Hashmi, Heather J Landau, Lazaros Lekakis, Abu-Sayeef Mirza, Ravi Narra, Krina Patel, Ashley E Rosko, Mark Schroeder, Surbhi Sidana, Saad Usmani, Marcelo C Pasquini, Taiga Nishihori, Othman Salim Akhtar, Meera Mohan

Oncology Articles

Background: Ciltacabtagene autoleucel (cilta-cel), an anti-B-cell maturation antigen (BCMA) chimeric antigen receptor T-cell (CAR-T) therapy, is approved for relapsed/refractory multiple myeloma (RRMM).

Methods: Using the Center for International Blood and Marrow Transplant Research registry, this study evaluated outcomes of frail patients receiving commercial cilta-cel from March 2022 to December 2023. Frailty was defined by an adapted simplified score incorporating age, performance status, and comorbidities.

Results: Among 541 patients with available frailty status, 183 (33.8%) were frail and 358 (66.2%) were nonfrail. Overall response rates were comparable (frail 82.8% vs. nonfrail 88.5%). However, frail patients had inferior progression-free survival (PFS) (12-month …


Training Apart, Together: Team Dynamics In Individual Sports And Surgical Residency, W. Jack Palmer, Dylan Bertoni, Elizabeth E. Cottrill, Colin T. Huntley Oct 2026

Training Apart, Together: Team Dynamics In Individual Sports And Surgical Residency, W. Jack Palmer, Dylan Bertoni, Elizabeth E. Cottrill, Colin T. Huntley

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Surgeons in training share notable parallels with competitive athletes, including rigorous training, skill specialization, and functioning under pressure. Surgical educators have leveraged this comparison, incorporating techniques from sports psychology, such as mental imagery and mindfulness, to improve trainees' individual performance and well-being. Surgical trainees and athletes both rely on effective teamwork for optimal outcomes, suggesting that residency leaders can glean valuable team-level insights from sports psychology. This article examines how the structure of surgical residency influences team dynamics, using concepts from sports psychology to identify evidence-based strategies for improving program cohesion and resident well-being. The surgical literature typically conceptualizes surgery …


Early Hands-On Surgical Exposure: Outcomes Of A Student-Led Surgical Externship Program For Preclinical Students, Meryem C. Guler, Elizabeth Spitz, Jennifer E. Geller, Talar Tatarian, Renee Tholey Oct 2026

Early Hands-On Surgical Exposure: Outcomes Of A Student-Led Surgical Externship Program For Preclinical Students, Meryem C. Guler, Elizabeth Spitz, Jennifer E. Geller, Talar Tatarian, Renee Tholey

Department of Surgery Faculty Papers

Objective: Early surgical exposure may potentially influence medical students' decision to pursue a surgical career. At our urban, academic medical school, senior medical students developed a Surgical Externship Program (SEP) to provide first-years with hands-on OR experience. This program is a structured 1- to 2-week immersive experience in which first-year students scrubbed into operations, participated in rounds, and engaged with surgical teams under resident and attending supervision. This study evaluates the SEP's impact on surgical interest, OR confidence, and clinical exposure.

Setting: Academic tertiary care hospital.

Participants: First-year medical students.

Design: First-year students participated in a 1- or 2-week SEP …


Agentic Ai For Clinical Outcomes Research, Population Health Management Analyses With Large Administrative Databases, And Generating Epidemiological Estimates Of Diseases: Feasibility And Validation Study, Daniel Frisch, Michael Fronstin, Carla Zema Sep 2026

Agentic Ai For Clinical Outcomes Research, Population Health Management Analyses With Large Administrative Databases, And Generating Epidemiological Estimates Of Diseases: Feasibility And Validation Study, Daniel Frisch, Michael Fronstin, Carla Zema

Division of Cardiology Faculty Papers

BACKGROUND: There is tremendous enthusiasm for the use of AI in health care because of the ability to analyze existing data for preventative, diagnostic, and treatment support. Agentic AI can feasibly provide access to large real-world datasets for the generation of real-world evidence for health care and clinical applications to health care providers, researchers, and administrators without access to large analytic programming resources.

OBJECTIVE: The objective of this study was to understand the feasibility of using agentic AI for clinical outcome research and population health management. Specifically, this study used an agentic AI evidence-generation platform to obtain epidemiological estimates of …


Palopegteriparatide For Adults With Chronic Hypoparathyroidism: Skeletal Dynamics Through 3 Years Of The Phase 2 Path Forward Trial, Mishaela Rubin, Bart Clarke, Lorenz Hofbauer, Aliya Khan, Peter Schwarz, Tamara Vokes, Intekhab Ahmed, Andrea Palermo, Filomena Cetani, Uberto Pagotto, Carol Zhao, Michael Ominsky, Bryant Lai, Jenny Ukena, Aimee Shu, Lars Rejnmark Sep 2026

Palopegteriparatide For Adults With Chronic Hypoparathyroidism: Skeletal Dynamics Through 3 Years Of The Phase 2 Path Forward Trial, Mishaela Rubin, Bart Clarke, Lorenz Hofbauer, Aliya Khan, Peter Schwarz, Tamara Vokes, Intekhab Ahmed, Andrea Palermo, Filomena Cetani, Uberto Pagotto, Carol Zhao, Michael Ominsky, Bryant Lai, Jenny Ukena, Aimee Shu, Lars Rejnmark

Division of Endocrinology, Diabetes and Metabolic Diseases Faculty Papers

Hypoparathyroidism is an endocrine disease caused by insufficient levels of PTH, which acts directly on bone and kidney and indirectly on the intestine to regulate calcium and phosphate balance. In clinical trials, palopegteriparatide (TransCon PTH) treatment enabled independence from conventional therapy (no active vitamin D, ≤600 mg/d calcium) and maintained serum biochemistries within normal ranges. The current analyses describe patterns of change in BMD, serum bone turnover markers, and serum and urine calcium in adults with chronic hypoparathyroidism treated with palopegteriparatide through 3 years of the PaTH Forward trial. Baseline BMD Z-scores for the LS, TH, FN, and 1/3 distal …


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 …


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 …


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 …


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, …


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. …


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. …


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 …


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 …


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.


Abundance And Balance Of Circulating Leukocyte Subsets And Colorectal Cancer Survival, Alicia R Richards, Maria F Gomez, Bianca I Dowling, Catherine M Bulka, Biljana Gigic, Jane C Figueiredo, Christopher I Li, David Shibata, Adetunji T Toriola, Doratha A Byrd, Cornelia M Ulrich, Mingxiang Teng, Paul A Stewart, Erin M Siegel, Jacob K Kresovich Sep 2026

Abundance And Balance Of Circulating Leukocyte Subsets And Colorectal Cancer Survival, Alicia R Richards, Maria F Gomez, Bianca I Dowling, Catherine M Bulka, Biljana Gigic, Jane C Figueiredo, Christopher I Li, David Shibata, Adetunji T Toriola, Doratha A Byrd, Cornelia M Ulrich, Mingxiang Teng, Paul A Stewart, Erin M Siegel, Jacob K Kresovich

2020-Current year OA Pubs

BACKGROUND: Cancer immunology research has traditionally focused on tumor-infiltrating leukocytes, but the role of the peripheral leukocytes remains understudied. Since tumor-infiltrating leukocytes are recruited from the blood, circulating immune profiles may provide prognostic insights obtainable before surgery, reflecting overall immune competence.

METHODS: We analyzed treatment-naïve blood samples from 134 stage I-III colorectal cancer (CRC) patients using a nested case-control design (33 recurrences, 45 deaths; median follow-up: 7.4 years). Circulating leukocyte subsets were estimated using methylation cytometry applied to genome-wide methylation profiles. Cox regression models estimated associations between leukocyte metrics and disease-free and overall survival, adjusting for clinical factors.

RESULTS: Higher …


Spinal Cord Imaging For Multiple Sclerosis: Advances, Priorities, And Opportunities, Cornelia Laule, Matthew R Brier, Et Al. Sep 2026

Spinal Cord Imaging For Multiple Sclerosis: Advances, Priorities, And Opportunities, Cornelia Laule, Matthew R Brier, Et Al.

2020-Current year OA Pubs

The spinal cord plays a central role in the pathophysiology and clinical manifestations of multiple sclerosis (MS), yet remains under-studied compared with the brain. This review summarizes key insights from the 2025 North American Imaging in MS Spinal Cord Imaging Workshop, highlighting recent advances, ongoing challenges, and future opportunities in MS spinal cord imaging. We review pathological studies and outline the clinical relevance of spinal cord lesions and atrophy for diagnosis, prognosis, and disease monitoring, highlighting emerging biomarkers of progression independent of relapse activity. Correlations between magnetic resonance imaging, histopathology, and clinical outcomes support the validation and translational potential of …


Pediatric Hypertension Prevalence With 1 Vs. 2 Vs. 3 Within-Visit Blood Pressure Readings (Nhanes 2013-2020), Sandeep K Riar, Donald L Batisky, Scott Gillespie, Andrew M South Sep 2026

Pediatric Hypertension Prevalence With 1 Vs. 2 Vs. 3 Within-Visit Blood Pressure Readings (Nhanes 2013-2020), Sandeep K Riar, Donald L Batisky, Scott Gillespie, Andrew M South

2020-Current year OA Pubs

To compare hypertension prevalence using 'initial' blood pressure (BP), 'subsequent' BP (averaged second and third readings) and 'total' BP (averaged three readings), we included 8-17-year-old youth with three BP readings from NHANES 2013-2020. From 2013-2016, BP was obtained using auscultation (manual protocol, MP) and subsequently, using oscillometry (automated protocol, AP). We excluded subjects with 'zero' diastolic blood pressure (DBP). In 5656 subjects, clinical hypertension (high systolic blood pressure [SBP] and/or DBP) prevalence was highest with 'initial' BP (350/5 642, 6.2% [95% CI 5.6-6.9%]), lower with 'subsequent' BP (289/5 642, 5.1% [4.6-5.7%], p <  0.001), and lowest with 'total' BP (251/5 642, 4.4% [3.9-5.0%], p <  0.001). Both MP and AP groups maintained this trend with a significantly lower hypertension prevalence with 'total' vs. 'subsequent' BP. An exception to the trend occurred in the AP group for three conditions: diastolic hypertension, hypertension in high BMI and Hispanic subjects. Diastolic hypertension prevalence with 'subsequent' DBP (86/2 285, 3.8% [3.1-4.6%]) exceeded that with 'initial' DBP (83/2 285, 3.6% [2.9-4.5%]) and was lowest with 'total' DBP (59/2 285, 2.6% [2.0-3.3%]). Diastolic hypertension prevalence was higher (126/5 642, 2.2% [1.9 - 2.7%]) with the 2016 European guidelines (same as 'subsequent' DBP) than with 'total' DBP (94/5 642, 1.7% [1.4 - 2.0%]). Our findings support the inclusion of the first BP reading in BP categorization, as 'total BP' leads to lower hypertension classification than 'subsequent' BP.


Pda (Privacy-Preserving Distributed Algorithms) In Action: Ten Principles For High-Quality Multi-Site Clinical Evidence Generation, Yong Chen, Chongliang Luo, Et Al. Sep 2026

Pda (Privacy-Preserving Distributed Algorithms) In Action: Ten Principles For High-Quality Multi-Site Clinical Evidence Generation, Yong Chen, Chongliang Luo, Et Al.

2020-Current year OA Pubs

BACKGROUND: Distributed Research Networks (DRNs) offer significant opportunities for collaborative multi-site research and have significantly advanced healthcare research based on clinical observational data. However, generating high-quality real-world evidence using fit-for-use data from multi-site studies faces important challenges, including biases associated with various types of heterogeneity within and across sites and data sharing difficulties. Over the last 10 years, Privacy-Preserving Distributed Algorithms (PDA) have been developed and utilized in numerous national and international real-world studies spanning diverse domains, from comparative effectiveness research, target trial emulation, to healthcare delivery, policy evaluation, and system performance assessment. Despite these advances, there remains a lack …


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 …


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. …