Digital Commons Network^™

Using Randomization To Compare Ai And Expert-Generated Formative Assessment Questions In Medical Education, Akshat Kumar, Katie Stinson, Litao Wang, Elizabeth Nugent, Yongsu Lee, Mark Hormann, Latanya Jones Love, Toufeeq Ahmed Syed

Faculty, Staff and Student Publications

Background: AI-generated content is being used across the education spectrum and is beneficial for creating complex multiple-choice questions, such as those used in medical education. However, evaluating AI-generated content is challenging, and existing testing and evaluation methods are falling short. This study uses randomization to compare medical students' performance on and subjective evaluation of AI versus expert-generated questions. We hypothesized that there would be no difference in student performance or subjective evaluation of AI vs expert-generated questions.

Methods: We designed a single-center, randomized study where medical student participants received either one AI- or expert-generated question per day over four weeks. …

Ambulatory Blood Pressure Variability In Prediction Of Target Organ Injury: The Ship Ahoy Study, Coral D Hanevold, Jang Dong Seo, Stephen R Daniels, Bonita E Falkner, Michael A Ferguson, Joseph T Flynn, Julie R Ingelfinger, Philip R Khoury, Marc B Lande, Kevin E Meyers, Mark Mitsnefes, Joshua Samuels, Elaine M Urbina

Faculty, Staff and Student Publications

Background: Ambulatory hypertension is associated with elevated left ventricular mass index (LVMI), cardiac dysfunction, and increased arterial stiffness in adolescents. Whether the addition of measures of BP variability improves the prediction of subclinical cardiovascular target organ damage (TOD) over mean BP measures is not known.

Methods: We assessed clinic and ambulatory BP (ABP), anthropometrics, and TOD in 397 adolescents. ABP means standard deviation (SD), BP, and heart rate (HR) dipping were calculated; coefficients of variability (CV) were calculated (SD/mean) to assess ABP variabilities. Measures of TOD included LVMI, left ventricular hypertrophy (LVH), LV systolic shortening, LV diastolic function (e'/a'), and …

In-Hospital Mortality Patterns And Readmissions In Patients With Chronic Obstructive Pulmonary Disease: An Analysis Of The Role Of Pulmonary Hypertension, Saad Afzal Khan, Trishna Parikh, Adishwar Rao, Akriti Agrawal, Aarohi Parikh, Farah Kazzaz, Sarah Shin, Harry Karmouty-Quintana, Maulin Patel, Kha Dinh, Bela Patel, Bindu Akkanti

Faculty, Staff and Student Publications

Chronic obstructive pulmonary disease (COPD) may be complicated by pulmonary hypertension (PH). We aimed to understand the impact of PH on in-hospital mortality and quantify the 30-day readmission rate among patients with COPD. For this cross-sectional study, we used the Nationwide Readmissions Database from 2017-2020 to identify adults ≥18 years with COPD. Patients were stratified according to PH diagnosis. Baseline characteristics between groups were compared using the Pearson chi-square test and two-sample t-test. Predictors of in-hospital mortality were determined using multivariate logistic regression analysis adjusted for demographics and confounders. The 30-day readmission rate and prevalence of PH subgroups by baseline …

Emotional Urgency And Lack Of Perseverance Are Linked To Anxiety Sensitivity And Improve During Early Recovery From Opioid Use Disorder., Breanna A. Mcnaughton-Long, Abigail J. Pleiman, Carmen Buchfink, Chrysantha B. Davis, Rayus Kuplicki, Martin P. Paulus, Hung-Wen Yeh, Maëlle C M Gueguen, Jennifer L. Stewart

Manuscripts, Articles, Book Chapters and Other Papers

Few studies have identified how facets of impulsivity relate to recovery in opioid use disorder (OUD). Treatment-enrolled individuals with OUD (n = 167) and healthy controls (CTL; n = 46) completed the Urgency, Premeditation, Perseverance, Sensation Seeking, Positive Urgency (UPPS-P) Impulsive Behavior Scale along with demographic and clinical measures at visit 1. Over the next three months, abstinence and return to use were documented for participants with OUD (via self-report, alcohol breathalyzer, urine drug screen, and secondary contact communication). Participants with OUD who returned to use (n = 59) did not complete further study visits, whereas those who remained abstinent …

Birth Cohort Effects In Adults Associated With Influenza A(H1n1)Pdm09 Vaccine Effectiveness, Feng Liu, Stacey L House, Tamair Curley, Et Al.

2020-Current year OA Pubs

BACKGROUND: In 2023-2024 influenza season, adults in the 1957-1985 birth cohort had the lowest vaccine effectiveness (VE) against A(H1N1)pdm09 viruses than other age groups, including those in the 1986-2005 birth cohort. We investigated A(H1N1)pdm09 antibody levels in sera collected from influenza cases and controls to explain the birth cohort effect of the low VE.

METHODS: Acute and convalescent sera were collected from adults (1986-2005 and 1957-1985 birth cohorts) during 2023-2024. Hemagglutination inhibiting (HI) and binding antibodies were assessed against representative A(H1N1) viruses and hemagglutinin antigens.

RESULTS: A(H1N1)pdm09-infected cases in the 1957-1985 birth cohort had significantly lower HI antibodies in the …

Burden Of Disease In Us Patients With Skeletal Versus Muscular Or Pain Manifestations Of Hypophosphatasia: An Analysis From The Global Hpp Registry., Priya S. Kishnani, Steven Ing, Julie Hoover-Fong, J Carl Pallais, Angie Voskopoja, Shona Fang, William R Mowrey, Eric Rush, Kathryn Dahir

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypophosphatasia (HPP) is a metabolic disorder characterized by deficient alkaline phosphatase (ALP) activity, defective mineralization of bones and teeth, and non-skeletal manifestations. We compared disease burden between patients with skeletal and non-skeletal manifestations.

METHODS: Data from US adults enrolled in the Global HPP Registry through July 2024 were analyzed to compare baseline characteristics, genetic testing results, functional outcomes, and patient-reported outcomes between participants with and without overt skeletal manifestations. Patients who had only dental manifestations were excluded.

RESULTS: Of 283 participants, 234 (82.7%) had skeletal manifestations (79.1% female; 89.3% White; median age 48.7 years) and 49 (17.3%) had only …

Ceftaroline Pharmacokinetics On Ecmo, A Pediatric Case Report., Kathryn Pavia, Ashton Bellamy, Alaina Burns, Allison Scott, Ethan A. Poweleit

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: In-vitro studies suggest that patients on extracorporeal membrane oxygenation (ECMO) may struggle to achieve therapeutic ceftaroline exposure to treat infections due to antibiotic sequestration within the ECMO oxygenator; however, there are no published data regarding ceftaroline concentrations from patients supported by ECMO.

PATIENT PRESENTATION: Here we present an analysis of ceftaroline pharmacokinetics in a 5-y-old patient supported on ECMO due to influenza-associated necrotizing pneumonia.

RESULTS: A total of nine concentrations were analyzed, including three concentrations prior to cannulation and six on ECMO. ECMO cannulation was associated with a relatively small change in the volume of distribution (0.17 L/kg to …

Ambulatory Blood Pressure Thresholds And Left Ventricular Hypertrophy In Children Aged 6-12 Years: A Pediatric Nephrology Research Consortium Study., Afsana Jahan, Matthew Schuchman, Mahie Abdullah, Meghan Mclaughlin, Emilia Maria Cadiz, Eshanika Manchanda, Aftab Chishti, Maggie Murphy, Sarah Twichell, Alexandra Mazo, Dmitry Samsonov, Aesha Maniar, Hannah Kim, Francis Lomanta, Ashok Chakravarthy Patibandla, Rachel Frank, Tarak Srivastava, Ikuyo Yamaguchi, Christine Sethna

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To evaluate the diagnostic performance of ambulatory blood pressure monitoring (ABPM) thresholds for predicting left ventricular hypertrophy (LVH) in children aged 6-12 years.

STUDY DESIGN: A retrospective, multicenter study was conducted across 11 Pediatric Nephrology Research Consortium sites and included children aged 6-12 years who underwent ABPM and 2-dimensional echocardiography for diagnostic assessment of elevated BP. The diagnostic accuracy of fixed ABPM thresholds and the current 95th percentile for sex and height were assessed using area under the receiver operating characteristic, sensitivity, specificity, and Youden index. Multivariable logistic regression models, adjusted for age, sex, and body mass index z-score, …

A Rare Recurring Gain-Of-Function Variant In Bmpr2 Causes Neurodevelopmental Phenotypes In Humans And Flies, Jung-Wan Mok, Carrie L Welch, Haley A Dostalik, Zhi Tan, Ariel Brautbar, Maria Descartes, Erica T Gray, Alejandro Iglesias, Scott D Mclean, Morgan Nutter, Olivia Daugherty, Amber Begtrup, Ingrid M Wentzensen, Yufeng Shen, Damian W Young, Martin M Matzuk, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Wendy K Chung, Shinya Yamamoto

Faculty, Staff and Students Publications

Bone morphogenetic protein receptor type 2 (BMPR2) encodes an evolutionarily conserved serine/threonine kinase that phosphorylates type-1 BMP receptors to mediate intercellular communication upon ligand binding. Loss-of-function variants in BMPR2 are known to cause pulmonary arterial hypertension and other cardiovascular disorders. Here, we report a rare recurrent missense variant in BMPR2 (c.1126G>A [GenBank: NM_001204] [p.Glu376Lys]) identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay. Trio analysis demonstrates de novo occurrence of this variant in at least five of the individuals. Using the fruit fly Drosophila melanogaster, we show that this variant …

Social Responsiveness As A Mediator In Adapted Cognitive Behavioral Therapy For Autistic Youth With Maladaptive And Interfering Anxiety, Jeffrey J Wood, Eric A Storch, Katherine Sung, Karen S Wood, Philip C Kendall

Faculty, Staff and Students Publications

Numerous adaptations to interventions have been included in cognitive behavioral therapy (CBT) for autistic youth. This study examines the degree to which CBT adapted to the social needs of autistic youth confers significant benefit by promoting social responsiveness. A secondary analysis was conducted on a multisite randomized clinical trial (Wood et al. in JAMA Psychiatry 77:474-483, 2020) comparing adapted CBT with standard-of-practice CBT and treatment-as-usual (TA). Autistic youth (N = 167; aged 7-13) with maladaptive and interfering anxiety participated. The adapted CBT (BIACA) uses a modular format, with an emphasis on supplementing common CBT practice elements (reframing and graded exposure) …

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 …

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

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

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

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

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

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

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

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

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 …

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

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 …

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. …

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 (Chd1^R616Q/+) displays female-restricted phenotypes, including growth deficiency, anxiety, and hypotonia. Orchiectomy unmasks a growth-deficiency phenotype in male Chd1^R616Q/+ 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

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 …

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

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

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

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

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 …