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An Interview With Rita Charon, Nathan Carlin Jun 2025

An Interview With Rita Charon, Nathan Carlin

Faculty and Staff Publications

This is an edited transcript of an interview with Rita Charon. Nathan Carlin conducted the interview in her apartment in New York City on October 18, 2024. They discussed a number of topics, including Charon's educational journey, her mentors, the founding of narrative medicine, the status of narrative medicine today as well as its future, the relationship between narrative medicine and literature and medicine, and the ethics of writing about patients.


Phenotypic Expansion Of Knobloch Syndrome Type 2 In An Individual With A De Novo Pak2 Variant., Elizabeth A Werren, Louisa Kalsner, Jessica M Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter N Robinson, Mark D Adams, Melissa A Kelly, Adam P Matson Jun 2025

Phenotypic Expansion Of Knobloch Syndrome Type 2 In An Individual With A De Novo Pak2 Variant., Elizabeth A Werren, Louisa Kalsner, Jessica M Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter N Robinson, Mark D Adams, Melissa A Kelly, Adam P Matson

Faculty Research 2025

P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.4:c.1273G>A, p.(D425N), by genome sequencing in an individual with features consistent with KNO2. Notable clinical phenotypes observed in this individual were global developmental delay, congenital retinal detachment, mild cerebral ventriculomegaly, hypotonia, failure to thrive, pyloric stenosis, feeding intolerance, patent ductus arteriosus, and mild facial …


Workplace Perk Or Pitfall? A Qualitative Study Of Genetic Counselors' Perspectives And Experiences With Workplace Genetic Testing., Elizabeth Charnysh, Katherine Hendy, Kerry Ryan, Anya E R Prince, W Gregory Feero, Alyx Vogle, Sarah Mccain, Alexandra Truhlar, J Scott Roberts, Charles Lee, Kunal Sanghavi, Wendy R Uhlmann, The Insight @ Work Consortium Jun 2025

Workplace Perk Or Pitfall? A Qualitative Study Of Genetic Counselors' Perspectives And Experiences With Workplace Genetic Testing., Elizabeth Charnysh, Katherine Hendy, Kerry Ryan, Anya E R Prince, W Gregory Feero, Alyx Vogle, Sarah Mccain, Alexandra Truhlar, J Scott Roberts, Charles Lee, Kunal Sanghavi, Wendy R Uhlmann, The Insight @ Work Consortium

Faculty Research 2025

Some employers offer genetic testing for increased cancer and cardiovascular disease risk, as well as pharmacogenetic variants, as a wellness benefit, which presents unique considerations for genetic counseling. Our ethical, legal, and social implications (ELSI) of genomics study, positioned in a post-positivist paradigm, aimed to qualitatively assess the perspectives and experiences of genetic counselors (GCs) who had counseled on workplace genetic testing (wGT). Semi-structured interviews were conducted with 18 US GCs who either worked in the wGT industry (i.e., role-directed wGT experience) or provided post-test counseling in a clinical setting (i.e., patient-directed wGT experience). Interviews were analyzed following the principles …


Placental And Cord Blood Dna Methylation Changes Associated With Gestational Diabetes Mellitus In A Marginalized Population: The Untold Role Of Saturated Fats., Fatima Ahmad, Sidra Aftab Uzair, Arun P Lakshmanan, Shaikha Alabduljabbar, Salma H Ahmed, Basirudeen Syed Ahamed Kabeer, Alexandra Katharina Marr, Tomoshige Kino, Tobias Brummaier, Rose Mcgready, François Nosten, Damien Chaussabel, Souhaila Al Khodor, Annalisa Terranegra Jun 2025

Placental And Cord Blood Dna Methylation Changes Associated With Gestational Diabetes Mellitus In A Marginalized Population: The Untold Role Of Saturated Fats., Fatima Ahmad, Sidra Aftab Uzair, Arun P Lakshmanan, Shaikha Alabduljabbar, Salma H Ahmed, Basirudeen Syed Ahamed Kabeer, Alexandra Katharina Marr, Tomoshige Kino, Tobias Brummaier, Rose Mcgready, François Nosten, Damien Chaussabel, Souhaila Al Khodor, Annalisa Terranegra

Faculty Research 2025

The role of DNA methylation (DNAm) and its modulation by dietary factors in gestational diabetes mellitus (GDM) remains underexplored, particularly in marginalized populations. This study investigates DNAm alterations in GDM-exposed cord blood and placenta and their association with maternal dietary quality and single nutrient intake in a low-income population from the Myanmar-Thailand border. A matched case-control design (GDM: n = 38, controls: n = 34) was selected from a Myanmar-Thailand pregnancy cohort. Dietary intake was assessed via 24-h recalls and analyzed using Nutritionist Pro, with dietary quality evaluated by the healthy eating index (HEI). DNAm was profiled in 72 cord …


Colorectal Adenosquamous Carcinoma: Clinicopathologic Analysis Of Two Large Cohorts And Literature Review Confirm Poor Prognosis And Reveal Prognostic Aspects, Raul S Gonzalez, Rachel K Horton, Xuchen Zhang, Rondell P Graham, Teri A Longacre, Anupamjit Mehrotra, Daniela S Allende, Kelsey E Mchugh, Jinru Shia, Maria Westerhoff, Amitabh Srivastava, Wei Chen, Jennifer Vazzano, Paul E Swanson, Deyali Chatterjee, Hassam Cheema, Changqing Ma, Rifat Mannan, Runjan Chetty, Klaudia M Nowak, Stefano Serra, Diana Agostini-Vulaj, Rossana Kazemimood, Patrick Henn, Sanjay Kakar, Won-Tak Choi, Oyedele Adeyi, Sarah M Jenkins, Iris D Nagtegaal Jun 2025

Colorectal Adenosquamous Carcinoma: Clinicopathologic Analysis Of Two Large Cohorts And Literature Review Confirm Poor Prognosis And Reveal Prognostic Aspects, Raul S Gonzalez, Rachel K Horton, Xuchen Zhang, Rondell P Graham, Teri A Longacre, Anupamjit Mehrotra, Daniela S Allende, Kelsey E Mchugh, Jinru Shia, Maria Westerhoff, Amitabh Srivastava, Wei Chen, Jennifer Vazzano, Paul E Swanson, Deyali Chatterjee, Hassam Cheema, Changqing Ma, Rifat Mannan, Runjan Chetty, Klaudia M Nowak, Stefano Serra, Diana Agostini-Vulaj, Rossana Kazemimood, Patrick Henn, Sanjay Kakar, Won-Tak Choi, Oyedele Adeyi, Sarah M Jenkins, Iris D Nagtegaal

Faculty, Staff and Student Publications

Aims: We compiled two cohorts of colorectal adenosquamous carcinoma (ASC) to describe its histologic and molecular aspects using modern parameters to compare them with literature reports using meta-analysis of cohorts and individual case series.

Methods and results: We identified 53 colorectal ASC from 19 North American academic medical centres, in addition to national database reports on 94 Dutch cases. We analysed available clinical, histologic, and immunohistochemical features and patient outcome. ASC comprised 0.02% of colorectal cancers in the Dutch database. The median cohort patient ages at resection were 65 and 69 years (North American and Dutch cohorts, respectively), with a …


Understanding And Addressing Mental Health Challenges Of Families Admitted To The Neonatal Intensive Care Unit., Ashley D. Osborne, Daphna Yasova Barbeau, Tiffany Gladdis, Kara Hansen, Tonia Branche, Emily R. Miller, Christine C. Pazandak, Margaret K. Hoge, Michelle Spencer, Diana Montoya-Williams, Ryan Barbeau, Heather Padratzik, Stephen Lassen Jun 2025

Understanding And Addressing Mental Health Challenges Of Families Admitted To The Neonatal Intensive Care Unit., Ashley D. Osborne, Daphna Yasova Barbeau, Tiffany Gladdis, Kara Hansen, Tonia Branche, Emily R. Miller, Christine C. Pazandak, Margaret K. Hoge, Michelle Spencer, Diana Montoya-Williams, Ryan Barbeau, Heather Padratzik, Stephen Lassen

Manuscripts, Articles, Book Chapters and Other Papers

This article reviews the psychological distress experienced by NICU families, including anxiety, postpartum depression (PPD), and post-traumatic stress disorder (PTSD), in addition to providing recommendations for clinicians at the individual, institutional, and national level. Currently, mental health screenings, specialized evaluations, and treatment options are not routinely offered to NICU families and are frequently under-utilized when offered. Here we provide expert opinion recommendations to address challenges in supporting universal screening, offering bedside interventions, including trained mental health professionals in care plans, updating neonatology training competencies, and advocating for policies that support the mental health of NICU families. We advocate that mental …


Reliability Of Physician Estimation Of Pelvic Free Fluid Volume On The Pediatric Focused Assessment With Sonography For Trauma., Ashkon Shaahinfar, Jennifer Rosin Wiebelhaus, Newton Addo, Ronald A. Cohen, Pinar Karakas-Rothey, Aaron E. Kornblith Jun 2025

Reliability Of Physician Estimation Of Pelvic Free Fluid Volume On The Pediatric Focused Assessment With Sonography For Trauma., Ashkon Shaahinfar, Jennifer Rosin Wiebelhaus, Newton Addo, Ronald A. Cohen, Pinar Karakas-Rothey, Aaron E. Kornblith

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To evaluate the reliability of physician gestalt estimation of pelvic free fluid volume on pediatric Focused Assessment with Sonography for Trauma (FAST). To determine a reliable cut-off volume and characteristics associated with small pelvic free fluid.

METHODS: Our study assessed the ability of 2 ultrasound-trained pediatric emergency medicine (PEM) physicians and 2 pediatric radiologists to characterize pelvic free fluid in a retrospective convenience sample of archived FAST from a Level 1 pediatric trauma center, April 2018-June 2020. Inter- and intra-rater reliability were measured to determine the most reliable volume cut-off. Chi-squared and Fisher's exact tests determined characteristics associated with …


Validity And Reliability Of The Tampa Scale For Kinesiophobia For Adolescents With Heart Disease., David A. White, William R. Black, Emily Cramer, Lindsey Malloy-Walton, Mollie Walton, Laura Martis, Brandy Enneking, Kelli M. Teson, Jessica S. Watson, Jami Gross-Toalson Jun 2025

Validity And Reliability Of The Tampa Scale For Kinesiophobia For Adolescents With Heart Disease., David A. White, William R. Black, Emily Cramer, Lindsey Malloy-Walton, Mollie Walton, Laura Martis, Brandy Enneking, Kelli M. Teson, Jessica S. Watson, Jami Gross-Toalson

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: To assess the validity and reliability of a newly adapted Tampa Scale for KP for adolescents with HD (TSK-Heart-A).

METHODS: The TSK-Heart-A survey consists of 17 Likert scale items, producing a summary score (SS) ranging from 17 (low KP) to 68 (high KP). Following content and face validity, adolescents (age 12-18 yr) with arrhythmia disorders or Fontan palliation were recruited. The PROMIS pediatric anxiety and depression short forms, Pediatric Quality of Life Inventory (PedsQL) generic core and cardiac module, and a PA questionnaire for adolescents (PAQ-A) were used for criterion validity. The TSK-Heart-A was completed twice (20.4 ± 6.3 …


Glp-1 Agonists For Pediatric Psychopharmacology: Opportunities And Cautions., Michael Bartkoski, Ethan Poweleit, Stephani L. Stancil Jun 2025

Glp-1 Agonists For Pediatric Psychopharmacology: Opportunities And Cautions., Michael Bartkoski, Ethan Poweleit, Stephani L. Stancil

Manuscripts, Articles, Book Chapters and Other Papers

Glucagon-like peptide-1 agonists (GLP-1A) are increasingly prescribed to treat obesity and type 2 diabetes mellitus in children and adolescents. Emerging evidence suggesting neuropsychiatric effects presents an opportunity for pediatric psychopharmacology but requires careful consideration of potential adverse effects and risk of misuse. This perspective examines potential applications and cautions surrounding GLP-1As for pediatric mental health, particularly substance use, depression, and eating disorders, and advocates for research and clinical monitoring to ensure their safety and efficacy.


Antiviral Prescription In Children With Influenza In Us Emergency Departments: New Vaccine Surveillance Network (Nvsn), 2016-2020., Tess Stopczynski, Justin Z. Amarin, James W. Antoon, Olla Hamdan, Laura S. Stewart, James Chappell, Andrew J. Spieker, Eileen J. Klein, Janet A. Englund, Geoffrey A. Weinberg, Peter G. Szilagyi, John V. Williams, Marian G. Michaels, Julie A. Boom, Leila C. Sahni, Mary Allen Staat, Elizabeth P. Schlaudecker, Jennifer E. Schuster, Rangaraj Selvarangan, Christopher J. Harrison, Heidi L. Moline, Ariana P. Toepfer, Angela P. Campbell, Samantha M. Olson, Natasha B. Halasa Jun 2025

Antiviral Prescription In Children With Influenza In Us Emergency Departments: New Vaccine Surveillance Network (Nvsn), 2016-2020., Tess Stopczynski, Justin Z. Amarin, James W. Antoon, Olla Hamdan, Laura S. Stewart, James Chappell, Andrew J. Spieker, Eileen J. Klein, Janet A. Englund, Geoffrey A. Weinberg, Peter G. Szilagyi, John V. Williams, Marian G. Michaels, Julie A. Boom, Leila C. Sahni, Mary Allen Staat, Elizabeth P. Schlaudecker, Jennifer E. Schuster, Rangaraj Selvarangan, Christopher J. Harrison, Heidi L. Moline, Ariana P. Toepfer, Angela P. Campbell, Samantha M. Olson, Natasha B. Halasa

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Influenza contributes to a high burden of pediatric emergency department (ED) visits annually. Guidelines recommend outpatient antiviral treatment for children at higher risk of severe influenza and recommend considering treatment for those who present within 2 days of symptom onset. We describe antiviral prescription in children with influenza presenting to the ED.

METHODS: We analyzed data from the New Vaccine Surveillance Network (2016-2020), including children presenting to the ED and enrolled with confirmed influenza at one of seven pediatric academic centers. We compared characteristics of children prescribed antivirals to those who were not, using generalized estimating equations models to …


Postoperative Caregiver Decision Regret Following Velopharyngeal Dysfunction Surgery., Rohit Nallani, Nathan Farrokhian, Meghan Tracy, Kevin J. Sykes, Jill M. Arganbright Jun 2025

Postoperative Caregiver Decision Regret Following Velopharyngeal Dysfunction Surgery., Rohit Nallani, Nathan Farrokhian, Meghan Tracy, Kevin J. Sykes, Jill M. Arganbright

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Decision regret (DR) is a powerful factor in medical decision-making, particularly for surgical decisions which carry multiple risks, impact quality of life (QOL), and have uncertain outcomes. While prior studies have investigated caregiver DR after tonsillectomy and otologic surgery, there is a paucity of data assessing DR following pediatric otolaryngology procedures. The aim of this study is to measure DR following velopharyngeal dysfunction (VPD) surgery.

METHODS: A cross-sectional survey study with chart review was performed of caregivers of children who had VPD surgery performed by a single surgeon at a tertiary children's hospital. Demographic, medical, and surgical history were …


Best Practices For A Competency-Based Curriculum In Critical Care Ultrasonography For Fellows, Paru Patrawalla, Frances West, Navitha Ramesh, Paul Mayo, Amik Sodhi Jun 2025

Best Practices For A Competency-Based Curriculum In Critical Care Ultrasonography For Fellows, Paru Patrawalla, Frances West, Navitha Ramesh, Paul Mayo, Amik Sodhi

Division of Pulmonary, Allergy, and Critical Care Medicine Faculty Papers

New guidelines from the Accreditation Council on Graduate Medical Education for critical care ultrasound (CCUS) training went into effect on July 1, 2024, for critical care medicine and combined pulmonary and critical care medicine fellows. Fellowship programs will need to ensure that their fellows demonstrate competence in skills that are essential to CCUS, which currently encompasses applications in basic cardiac, lung/pleural, abdominal, and vascular ultrasonography (US). This may be a challenge for fellowship programs that have nascent CCUS curricula and limited faculty expertise. In this Perspective, we share expert and evidence-based recommendations on how to implement a competency-based curriculum in …


Long-Term Non-Conditional And Conditional Metastasis Of Uveal Melanoma By Tumor Size Category In 8034 Patients, Rolika Bansal, Hidayet Sener, Jerry A. Shields, Carol L. Shields Jun 2025

Long-Term Non-Conditional And Conditional Metastasis Of Uveal Melanoma By Tumor Size Category In 8034 Patients, Rolika Bansal, Hidayet Sener, Jerry A. Shields, Carol L. Shields

Wills Eye Hospital Papers

PURPOSE: To estimate metastasis of patients with uveal melanoma (UM) based on tumor size categories classified by ultrasonographic thickness as small (0.0-3.0 mm), medium (3.1-8.0 mm), or large (≥8.1 mm) using both non-conditional and conditional analyses.

DESIGN: Retrospective analysis.

METHODS: A retrospective study of 8034 cases over 35-years at a single ocular oncology referral center evaluated the primary endpoint of cumulative incidence of metastasis at 5-, 10-, 15-, 20-, 25- and 30-years using non-conditional and conditional analysis at 3-years, 5-years, and 10-years of metastasis-free survival.

RESULTS: The mean thicknesses for small, medium, and large UMs were 2.5 mm, 5.0 mm, …


Cervical, Breast, And Colorectal Cancer Screening Outcomes Among Refugees In Philadelphia, Pennsylvania, Colleen Payton, Nina Kvaratskhelia, Melanie Chalfin, Jessica Deffler, Marc Altshuler Jun 2025

Cervical, Breast, And Colorectal Cancer Screening Outcomes Among Refugees In Philadelphia, Pennsylvania, Colleen Payton, Nina Kvaratskhelia, Melanie Chalfin, Jessica Deffler, Marc Altshuler

Department of Family & Community Medicine Faculty Papers

Cancer screening can detect cancer at an early stage and decrease cancer morbidity and mortality. Refugee populations may have had limited access to cancer screening before arrival in the United States. A cross-sectional analysis of cervical, breast, and colorectal cancer screening was conducted among refugees with primary care visits between 2018 and 2022 at a refugee health clinic in Philadelphia, Pennsylvania. Cancer screening outcomes included the number and type of screenings; the number of normal, inconclusive, and abnormal screening results; completion of follow-up tests for inconclusive and abnormal results; and the number of cancer diagnoses. Among 149 refugee women aged …


Diabetes-Related Distress Over Time And Its Associations With Glucose Levels In School-Aged Children., Susana R. Patton, Nicole Kahhan, Amy Milkes, Ryan J. Mcdonough, Matthew Benson, Mark A. Clements, Jessica S. Pierce Jun 2025

Diabetes-Related Distress Over Time And Its Associations With Glucose Levels In School-Aged Children., Susana R. Patton, Nicole Kahhan, Amy Milkes, Ryan J. Mcdonough, Matthew Benson, Mark A. Clements, Jessica S. Pierce

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: In a cohort of families of school-age children (8-12.99 years old) with type 1 diabetes, we examined the stability of parent and child diabetes-related distress (DRD) over 6 months and the associations between parent and child DRD and child glycated hemoglobin (HbA1c) over time.

RESEARCH DESIGN AND METHODS: We recruited families from two large pediatric hospital systems in the USA and used validated measures of parent (Parent Problem Areas in Diabetes-Child, PPAID-C) and child (Problem Areas in Diabetes-Child, PAID-C) DRD and children's HbA1c. We collected data at baseline and 6 months. We calculated minimal clinically important differences in PPAID-C …


Large-Scale Plasma Proteomic Profiling Unveils Diagnostic Biomarkers And Pathways For Alzheimer’S Disease, Gyujin Heo, Ying Xu, Erming Wang, Muhammad Ali, Hamilton Se-Hwee Oh, Patricia Moran-Losada, Federica Anastasi, Armand González Escalante, Raquel Puerta, Soomin Song, Jigyasha Timsina, Menghan Liu, Daniel Western, Katherine Gong, Yike Chen, Pat Kohlfeld, Allison Flynn, Alvin G Thomas, Joseph Lowery, John C Morris, David M Holtzman, Joel S Perlmutter, Suzanne E Schindler, Natalia Vilor-Tejedor, Marc Suárez-Calvet, Pablo García-González, Marta Marquié, Maria Victoria Fernández, Mercè Boada, Amanda Cano, Agustín Ruiz, Bin Zhang, David A Bennett, Tammie Benzinger, Tony Wyss-Coray, Laura Ibanez, Yun Ju Sung, Carlos Cruchaga Jun 2025

Large-Scale Plasma Proteomic Profiling Unveils Diagnostic Biomarkers And Pathways For Alzheimer’S Disease, Gyujin Heo, Ying Xu, Erming Wang, Muhammad Ali, Hamilton Se-Hwee Oh, Patricia Moran-Losada, Federica Anastasi, Armand González Escalante, Raquel Puerta, Soomin Song, Jigyasha Timsina, Menghan Liu, Daniel Western, Katherine Gong, Yike Chen, Pat Kohlfeld, Allison Flynn, Alvin G Thomas, Joseph Lowery, John C Morris, David M Holtzman, Joel S Perlmutter, Suzanne E Schindler, Natalia Vilor-Tejedor, Marc Suárez-Calvet, Pablo García-González, Marta Marquié, Maria Victoria Fernández, Mercè Boada, Amanda Cano, Agustín Ruiz, Bin Zhang, David A Bennett, Tammie Benzinger, Tony Wyss-Coray, Laura Ibanez, Yun Ju Sung, Carlos Cruchaga

Faculty, Staff and Student Publications

Proteomic studies have been instrumental in identifying brain, cerebrospinal fluid and plasma proteins associated with Alzheimer's disease (AD). Here, we comprehensively examined 6,905 aptamers corresponding to 6,106 unique proteins in plasma in more than 3,300 well-characterized individuals to identify new proteins, pathways and predictive models for AD. We identified 416 proteins (294 new) associated with clinical AD status and validated the findings in two external datasets representing more than 7,000 samples. AD-related proteins reflected blood-brain barrier disruption and other processes implicated in AD, such as lipid dysregulation or immune responses. A machine learning model was used to identify a set …


Allergic Fungal Rhinosinusitis Diagnosis, Management, Associated Conditions, Pathophysiology, And Future Directions: Summary Of A Multidisciplinary Workshop, Lauren T Roland, Cecelia Damask, Amber U Luong, Antoine Azar, Charles S Ebert, Thomas Edwards, Katherine N Cahill, Do-Yeon Cho, David Corry, Tara L Croston, Alexandra F Freeman, Amin Javer, Paneez Khoury, Jean Kim, Michael Koval, Edward D Mccoul, James W Mims, Anju Peters, Jay F Piccirillo, Richard P Ramonell, Amali Samarasinghe, Robert P Schleimer, Prestina Smith-Davidson, Andrej Spec, Michael E Wechsler, Sarah K Wise, Joshua M Levy Jun 2025

Allergic Fungal Rhinosinusitis Diagnosis, Management, Associated Conditions, Pathophysiology, And Future Directions: Summary Of A Multidisciplinary Workshop, Lauren T Roland, Cecelia Damask, Amber U Luong, Antoine Azar, Charles S Ebert, Thomas Edwards, Katherine N Cahill, Do-Yeon Cho, David Corry, Tara L Croston, Alexandra F Freeman, Amin Javer, Paneez Khoury, Jean Kim, Michael Koval, Edward D Mccoul, James W Mims, Anju Peters, Jay F Piccirillo, Richard P Ramonell, Amali Samarasinghe, Robert P Schleimer, Prestina Smith-Davidson, Andrej Spec, Michael E Wechsler, Sarah K Wise, Joshua M Levy

The Brown Foundation: Institute of Molecular Medicine

Allergic fungal rhinosinusitis (AFRS) is a unique endotype of chronic rhinosinusitis with nasal polyps (CRSwNP). Despite high recurrence rates and often more severe presenting signs compared with other subtypes of CRSwNP, research dedicated to AFRS has been lacking. Diagnostic criteria are outdated, the mechanistic relationship of AFRS to other associated diseases is unclear, and the pathophysiology of disease and risk factors for recurrence have not been well studied. In December 2023, a multidisciplinary group of rhinologists, otolaryngologists, pulmonologists, allergists, immunologists, scientists, and infectious disease experts met at the National Institute of Health to discuss unmet needs for future AFRS research …


Identification And Functional Assessment Of Candidate Causal Cis-Regulatory Variants Underlying Electrocardiographic Qt Interval Gwas Loci, Supraja Kadagandla, Lavanya Gunamalai, Dongwon Lee, Ashish Kapoor Jun 2025

Identification And Functional Assessment Of Candidate Causal Cis-Regulatory Variants Underlying Electrocardiographic Qt Interval Gwas Loci, Supraja Kadagandla, Lavanya Gunamalai, Dongwon Lee, Ashish Kapoor

The Brown Foundation: Institute of Molecular Medicine

Background: Identifying causal variants among tens or hundreds of associated variants at each locus in genome-wide association studies is challenging. As the vast majority of genome-wide association studies variants are noncoding, sequence variation at cis-regulatory elements (CREs) affecting transcriptional expression of specific genes is a widely accepted molecular hypothesis. Following this hypothesis, combined with the observation that open chromatin is a universal hallmark of all types of CREs, we aimed to identify candidate causal cis-regulatory variants underlying QT interval genome-wide association studies loci.

Methods: Common variants in high linkage disequilibrium with genome-wide significant variants were identified using variant …


Monte Carlo Study Of Gold Nanoparticle-Mediated Radiosensitization Effects Using Nanoscale Cell Model Combined With Fractal-Based Dna Model, Amrit Kaphle, Sandun Jayarathna, Sunil Krishnan, Sang Hyun Cho Jun 2025

Monte Carlo Study Of Gold Nanoparticle-Mediated Radiosensitization Effects Using Nanoscale Cell Model Combined With Fractal-Based Dna Model, Amrit Kaphle, Sandun Jayarathna, Sunil Krishnan, Sang Hyun Cho

The Brown Foundation: Institute of Molecular Medicine

Background: Gold nanoparticles (GNPs) are promising radiosensitizers in radiation therapy, yet the exact mechanisms behind their effectiveness remain not fully understood. Monte Carlo (MC) simulations have been used to study extra energy deposition and increased DNA damage by the secondary electrons from intracellularly present GNPs, which are believed to be the key physical mechanisms responsible for the radiosensitization effects observed in many radiobiological studies. However, discrepancies between experimental results and computational predictions persist. While often attributed to purely biological effects, such discrepancies, from a physical modeling point of view, can also be due to the use of MC models constructed …


Allergic Fungal Rhinosinusitis Diagnosis, Management, Associated Conditions, Pathophysiology, And Future Directions: Summary Of A Multidisciplinary Workshop, Lauren T Roland, Cecelia Damask, Amber U Luong, Antoine Azar, Charles S Ebert, Thomas Edwards, Katherine N Cahill, Do-Yeon Cho, David Corry, Tara L Croston, Alexandra F Freeman, Amin Javer, Paneez Khoury, Jean Kim, Michael Koval, Edward D Mccoul, James W Mims, Anju Peters, Jay F Piccirillo, Richard P Ramonell, Amali Samarasinghe, Robert P Schleimer, Prestina Smith-Davidson, Andrej Spec, Michael E Wechsler, Sarah K Wise, Joshua M Levy Jun 2025

Allergic Fungal Rhinosinusitis Diagnosis, Management, Associated Conditions, Pathophysiology, And Future Directions: Summary Of A Multidisciplinary Workshop, Lauren T Roland, Cecelia Damask, Amber U Luong, Antoine Azar, Charles S Ebert, Thomas Edwards, Katherine N Cahill, Do-Yeon Cho, David Corry, Tara L Croston, Alexandra F Freeman, Amin Javer, Paneez Khoury, Jean Kim, Michael Koval, Edward D Mccoul, James W Mims, Anju Peters, Jay F Piccirillo, Richard P Ramonell, Amali Samarasinghe, Robert P Schleimer, Prestina Smith-Davidson, Andrej Spec, Michael E Wechsler, Sarah K Wise, Joshua M Levy

The Brown Foundation: Institute of Molecular Medicine

Allergic fungal rhinosinusitis (AFRS) is a unique endotype of chronic rhinosinusitis with nasal polyps (CRSwNP). Despite high recurrence rates and often more severe presenting signs compared with other subtypes of CRSwNP, research dedicated to AFRS has been lacking. Diagnostic criteria are outdated, the mechanistic relationship of AFRS to other associated diseases is unclear, and the pathophysiology of disease and risk factors for recurrence have not been well studied. In December 2023, a multidisciplinary group of rhinologists, otolaryngologists, pulmonologists, allergists, immunologists, scientists, and infectious disease experts met at the National Institute of Health to discuss unmet needs for future AFRS research …


The Association Of Vision And Hearing Impairment On Cognitive Function And Loneliness: Evidence From The Mexican Health And Aging Study, Kimberly Hreha, Rafael Samper-Ternent, Heather E Whitson, L P Downer, Jessica S West, Brian Downer Jun 2025

The Association Of Vision And Hearing Impairment On Cognitive Function And Loneliness: Evidence From The Mexican Health And Aging Study, Kimberly Hreha, Rafael Samper-Ternent, Heather E Whitson, L P Downer, Jessica S West, Brian Downer

Faculty, Staff and Student Publications

Objectives: We investigated whether self-reported vision and hearing were associated with cognitive function and loneliness among Mexican adults aged 50 and older.

Methods: Mexican Health and Aging Study data. Vision/hearing status was self-reported (excellent-very good, good, fair-poor). Cognition was measured using nine tasks. Loneliness was measured using the UCLA Loneliness Scale. Analyses controlled for demographic and health characteristics.

Results: Among 12,353 participants (mean age = 67, 58% female), poor vision, but not hearing, was associated with lower global cognition (β = -0.03, p < .05). Poor vision (OR = 1.57, 95% CI = 1.30-1.91) and hearing (OR = 1.35, 95% CI = 1.14-1.61) were associated with higher odds of being lonely after adjusting for demographics and comorbidities, but not when adjusting for limitations in daily activities and depressive symptoms.

Discussion: Poor vision is a potentially modifiable risk factor for lower cognition and loneliness among Mexican adults. …


Understanding Utilization And Prevention Measures Associated With A Caries Risk Assessment In Oral Health Transformation, Melody Mcgee, Ryan Brandon, Muhammad Walji, Joel White, Kristen Moses, Eric P Tranby, Lisa J Heaton, Kristen Simmons Jun 2025

Understanding Utilization And Prevention Measures Associated With A Caries Risk Assessment In Oral Health Transformation, Melody Mcgee, Ryan Brandon, Muhammad Walji, Joel White, Kristen Moses, Eric P Tranby, Lisa J Heaton, Kristen Simmons

Faculty, Staff and Student Publications

Objectives: Dental decay is endemic in the United States, underscoring the need to measure the utilization of caries risk management tools to elucidate the effect of prevention interventions in reducing the dental decay rates of individuals. An academic institution partnered with a third-party institute to call attention to the utilization and prevention measures associated with caries risk assessment (CRA) used with children 0-18 years. This environmental scan examined claims across the United States to evaluate the proportion of dental examinations, CRAs, and caries prevention procedures within a calendar year.

Methods: A 12-month deidentified participant list categorized by age, race, sex, …


Navigating Early Career As An Oncologist: Thriving In Diverse Paths., Gita Suneja, Marjorie C Green, Janaki Parameswaran, Joseph Mccollom Do Jun 2025

Navigating Early Career As An Oncologist: Thriving In Diverse Paths., Gita Suneja, Marjorie C Green, Janaki Parameswaran, Joseph Mccollom Do

PCI Publications and Projects

Early-career oncologists navigate a complex landscape of professional development, clinical responsibilities, and research endeavors. This manuscript explores key challenges and strategies for success in the early years of an oncology career, focusing on the first job after fellowship, career transitions, and practical tips for intentionality. Effective mentorship is pivotal, providing guidance in clinical decision making, research pursuits, and professional networking. Career development strategies include securing funding, building collaborative networks, and identifying opportunities for leadership. Additionally, balancing clinical duties with research and personal well-being requires time management and institutional support. This article emphasizes the importance of fostering inclusive mentorship, advocating for …


Salicylamide Derivative Jmx0312 Protects Immunosuppressed Syrian Hamsters Against Adenovirus Lethal Challenge, Marta Carretero-Ledesma, Jun Li, Javier Martín-Escolano, Soraya Herrera-Espejo, Jimin Xu, Haiying Chen, Caridad Díaz-Navarro, Jerónimo Pachón, Javier Sánchez-Céspedes, Jia Zhou, María Eugenia Pachón-Ibáñez Jun 2025

Salicylamide Derivative Jmx0312 Protects Immunosuppressed Syrian Hamsters Against Adenovirus Lethal Challenge, Marta Carretero-Ledesma, Jun Li, Javier Martín-Escolano, Soraya Herrera-Espejo, Jimin Xu, Haiying Chen, Caridad Díaz-Navarro, Jerónimo Pachón, Javier Sánchez-Céspedes, Jia Zhou, María Eugenia Pachón-Ibáñez

Faculty, Staff and Student Publications

Despite the fact that human adenovirus (HAdV) causes severe infections in immunosuppressed and immunocompetent individuals, especially in children, there is currently no specific treatment for these infections. Previously we reported a new salicylamide analogue, JMX0312, as a potent inhibitor of HAdV infection with low cytotoxicity in vitro. Here we evaluate the in vivo efficacy and safety of this molecule in the immunosuppressed Syrian hamster model of HAdV infection. JMX0312 administration at a dose of 6.25 mg/kg did not affect the body weight of the animals, and reduced the viral load in liver and blood in a similar way than cidofovir. …


Factors Associated With Perceived Medication Safety During Transitions Of Care In Patients With Cancer: A Secondary Data Analysis Of A Cross-Sectional Survey, Youmin Cho, Misun Hwang, Yang Gong, Yun Jiang Jun 2025

Factors Associated With Perceived Medication Safety During Transitions Of Care In Patients With Cancer: A Secondary Data Analysis Of A Cross-Sectional Survey, Youmin Cho, Misun Hwang, Yang Gong, Yun Jiang

Faculty, Staff and Student Publications

Purpose: This study aimed to investigate perceived medication safety in patients with cancer during transitions of care and identify factors associated with their safety perceptions.

Methods: A secondary data analysis was performed on a cross-sectional survey data of from patients with four types of cancer (i.e., colorectal, lung, prostate, and breast). Perceived medication safety was measured by the sum score of four survey items that assessed patients' feelings about medication safety during transitions of care. Potential associated factors included sociodemographic and clinical factors (i.e., cancer types, taking oral anticancer agents), self-rated health, perceived safety in communicating with clinicians, beliefs about …


Comparing Stroke Risk Factors Among Sexual Minority Groups In Texas, Brittany Krenek, Samuel Tundealao, Jennifer E S Beauchamp, Sean I Savitz, Irene Tamí-Maury Jun 2025

Comparing Stroke Risk Factors Among Sexual Minority Groups In Texas, Brittany Krenek, Samuel Tundealao, Jennifer E S Beauchamp, Sean I Savitz, Irene Tamí-Maury

Faculty, Staff and Student Publications

Background: Knowledge gaps remain on stroke risk and disparities between sexual minority (SM) subgroups. In this study, stroke risk between SM subgroups, specifically gay/bisexual men and lesbian/bisexual women (G/BM and L/BW), was assessed.

Method: Data were collected in June 2022 using a bilingual (English and Spanish) cross-sectional paper-and-pen survey distributed among 183 SM individuals attending the 2022 Houston Pride Parade and Festival, as well as across Texas via phone call or online format. Relevant sociodemographic and stroke risk factors were compared between G/BM and L/BW using chi-square (or Fisher's exact, when appropriate) and two-sample t-tests. Sexual orientation was used to …


Emerging Technologies Of Single-Cell Multi-Omics, Yi June Kim, Koichi Takahashi Jun 2025

Emerging Technologies Of Single-Cell Multi-Omics, Yi June Kim, Koichi Takahashi

Faculty, Staff and Student Publications

The heterogeneity of the hematopoietic system was largely veiled by traditional bulk sequencing methods, which measure the averaged signals from mixed cellular populations. In contrast, single-cell sequencing has enabled the direct measurement of individual signals from each cell, significantly enhancing our ability to unveil such heterogeneity. Building on these advances, numerous single-cell multi-omics techniques have been developed into high-throughput, routinely accessible platforms, delineating the precise relationships among different layers of the central dogma in molecular biology. These technologies have uncovered the intricate landscape of genetic clonality and transcriptional heterogeneity in both normal and malignant hematopoietic systems, highlighting their roles in …


Novel Treatment-Specific Causal Biomarkers For Colorectal Cancer By Omics Integration, Akram Yazdani, Azam Yazdani, Raul Mendez-Giraldez, Gianluigi Pillonetto, Esmat Samiei, Reza Hadi, Heinz-Josef Lenz, Alan P Venook, Ahmad Samiei, Andrew B Nixon, Joseph A Lucci, Scott Kopetz, Monica M Bertagnolli, Federico Innocenti Jun 2025

Novel Treatment-Specific Causal Biomarkers For Colorectal Cancer By Omics Integration, Akram Yazdani, Azam Yazdani, Raul Mendez-Giraldez, Gianluigi Pillonetto, Esmat Samiei, Reza Hadi, Heinz-Josef Lenz, Alan P Venook, Ahmad Samiei, Andrew B Nixon, Joseph A Lucci, Scott Kopetz, Monica M Bertagnolli, Federico Innocenti

Faculty, Staff and Student Publications

While monoclonal antibody-based targeted therapies have substantially improved progression-free survival in cancer patients, the variability in individual responses poses a significant challenge in patient care. Therefore, identifying cancer subtypes and their associated biomarkers is required for assigning effective treatment. In this study, we integrated genotype and pre-treatment tissue RNA-seq data and identified biomarkers causally associated with the overall survival (OS) of colorectal cancer (CRC) patients treated with either cetuximab or bevacizumab. We performed enrichment analysis for specific consensus molecular subtypes (CMS) of CRC and evaluated differential expression of identified genes using paired tumor and normal tissue from an external cohort. …


Outcomes After Palliative Radiation Therapy In Patients With Symptomatic Locoregionally Advanced Breast Cancer, Luisa E Jacomina, David M Swanson, Melissa P Mitchell, Wendy A Woodward, Benjamin D Smith, Karen E Hoffman, Chelain R Goodman, Haven R Garber, Susie X Sun, Timothy A Yap, Funda Meric-Bernstam, Isidora Y Arzu, Elizabeth S Bloom, Pamela J Schlembach, Eric A Strom, Michael C Stauder, Simona F Shaitelman Jun 2025

Outcomes After Palliative Radiation Therapy In Patients With Symptomatic Locoregionally Advanced Breast Cancer, Luisa E Jacomina, David M Swanson, Melissa P Mitchell, Wendy A Woodward, Benjamin D Smith, Karen E Hoffman, Chelain R Goodman, Haven R Garber, Susie X Sun, Timothy A Yap, Funda Meric-Bernstam, Isidora Y Arzu, Elizabeth S Bloom, Pamela J Schlembach, Eric A Strom, Michael C Stauder, Simona F Shaitelman

Faculty, Staff and Student Publications

Purpose: Symptomatic locoregionally advanced breast cancer (SLABC) can cause troublesome pain or wound complications that negatively impact quality of life. Although palliative radiation therapy (RT) can minimize tumor-related symptoms, how best to tailor RT to achieve the most meaningful and durable response is not well defined.

Methods and materials: This is a single institution, multi-site retrospective review of patients with SLABC treated between 2016 and 2023 with palliative RT to symptomatic disease in the breast, chest wall, and/or regional lymph node basins. Overall survival (OS), locoregional control (LC), clinical and radiographic treatment response, overall pain scores, and treatment-related toxicities were …


Impact Of Screening For Human Papillomavirus-Positive Oropharyngeal Cancers: A Microsimulation-Based Modeling Study, Rebecca Landy, Gregory W Haber, Barry I Graubard, Carole Fakhry, Nicole G Campos, Emily A Burger, Li C Cheung, Hormuzd A Katki, Maura L Gillison, Anil K Chaturvedi Jun 2025

Impact Of Screening For Human Papillomavirus-Positive Oropharyngeal Cancers: A Microsimulation-Based Modeling Study, Rebecca Landy, Gregory W Haber, Barry I Graubard, Carole Fakhry, Nicole G Campos, Emily A Burger, Li C Cheung, Hormuzd A Katki, Maura L Gillison, Anil K Chaturvedi

Faculty, Staff and Student Publications

Background: We estimated the impact of screening on morbidity and mortality of human papillomavirus (HPV)16-positive oropharyngeal cancer among US men aged 45-79 years.

Methods: We developed an individual-level, state-transition natural history microsimulation model to estimate the impact of screening using oral HPV16 detection, HPV16-E6 antibody detection, and transcervical ultrasound of neck/oropharynx. We compared clinical detection to counterfactual screen detection for cancer stage, single- vs multiple-modality treatment, and survival. Screening scenarios encompassed 4 progression speeds across cancer stages (very slow, slow, fast, and very fast) and 4 screening frequencies.

Results: Among US men aged 45-79 years in 2021 (n = 54 …