Open Access. Powered by Scholars. Published by Universities.®
- Discipline
-
- Medical Sciences (10895)
- Oncology (5200)
- Life Sciences (4905)
- Biomedical Informatics (4428)
- Bioinformatics (4393)
-
- Medical Genetics (3065)
- Genetic Phenomena (2885)
- Diseases (1787)
- Pediatrics (1242)
- Public Health (1098)
- Cardiology (940)
- Neurology (847)
- Internal Medicine (647)
- Cardiovascular Diseases (587)
- Surgery (541)
- Endocrinology, Diabetes, and Metabolism (485)
- Mental and Social Health (406)
- Social and Behavioral Sciences (387)
- Obstetrics and Gynecology (346)
- Biochemical Phenomena, Metabolism, and Nutrition (341)
- Hematology (339)
- Neurosciences (327)
- Dietetics and Clinical Nutrition (305)
- Analytical, Diagnostic and Therapeutic Techniques and Equipment (282)
- Nutrition (279)
- Gastroenterology (258)
- Radiology (225)
- Neoplasms (221)
- Institution
-
- The Texas Medical Center Library (12018)
- Thomas Jefferson University (1790)
- Children's Mercy Kansas City (697)
- University of Kentucky (421)
- University of Nebraska Medical Center (235)
-
- OhioHealth (228)
- Providence (172)
- Western University (111)
- Dartmouth College (82)
- Himmelfarb Health Sciences Library, The George Washington University (78)
- Old Dominion University (72)
- Rowan University (61)
- Wright State University (47)
- Parkview Health (27)
- Lehigh Valley Health Network (14)
- Zucker School of Medicine at Hofstra/Northwell (12)
- Touro College and University System (9)
- MaineHealth (7)
- University of St Augustine for Health Sciences (7)
- Philadelphia College of Osteopathic Medicine (6)
- Tower Health (5)
- Edith Cowan University (4)
- Ohio Northern University (4)
- Aga Khan University (3)
- South Dakota State University (2)
- University of South Dakota (2)
- University of the Incarnate Word (2)
- Ateneo de Manila University (1)
- East Tennessee State University (1)
- Mississippi State University (1)
- Publication Year
- Publication
-
- Faculty, Staff and Student Publications (6224)
- Faculty, Staff and Students Publications (4878)
- Manuscripts, Articles, Book Chapters and Other Papers (697)
- The Texas Heart Institute Journal (402)
- Children’s Nutrition Research Center Staff Publications (269)
-
- Articles, Abstracts, and Reports (172)
- Duncan NRI Faculty and Staff Publications (138)
- Department of Medicine Faculty Papers (125)
- Pediatrics Faculty Publications (122)
- Department of Medical Oncology Faculty Papers (111)
- Department of Emergency Medicine Faculty Papers (89)
- Department of Neurology Faculty Papers (89)
- Department of Surgery Faculty Papers (88)
- Department of Neurosurgery Faculty Papers (85)
- Dartmouth Scholarship (82)
- Paediatrics Publications (81)
- Department of Pediatrics Faculty Papers (75)
- Department of Radiation Oncology Faculty Papers (73)
- Heart and Vascular Articles (73)
- Journal Articles: Pulmonary & Critical Care Med (73)
- Rothman Institute Papers (72)
- Wills Eye Hospital Papers (64)
- Kimmel Cancer Center Faculty Papers (60)
- Markey Cancer Center Faculty Publications (60)
- Center on Aging Staff Publications (54)
- Department of Dermatology and Cutaneous Biology Faculty Papers (54)
- Department of Obstetrics and Gynecology Faculty Papers (53)
- Department of Pathology, Anatomy, and Cell Biology Faculty Papers (51)
- Division of Cardiology Faculty Papers (51)
- Rowan-Virtua School of Osteopathic Medicine Departmental Research (49)
- Publication Type
- File Type
Articles 61 - 90 of 16121
Full-Text Articles in Medical Specialties
Nemp1 Organizes The Meiotic Telomere-Linc Interface To Control Chromosome Movement And Telomere Integrity, Andrea Jurisicova, Helen Mcneill
Nemp1 Organizes The Meiotic Telomere-Linc Interface To Control Chromosome Movement And Telomere Integrity, Andrea Jurisicova, Helen Mcneill
Faculty, Staff and Students Publications
Nuclear Envelope Membrane Protein 1 (NEMP1) is highly expressed in oocytes and required for fertility, yet its meiotic function remains poorly understood. Here, we identify NEMP1 as a critical organizer of meiotic telomere-nuclear envelope coupling and chromosome dynamics. Loss of NEMP1 causes telomere aggregation, loss of shelterin protection, telomere shortening, persistent DNA damage, aberrant non-homologous end joining, and chromosome end-to-end fusion, ultimately leading to aneuploidy in mouse oocyte. NEMP1 is required during early fetal meiotic prophase I for telomere-nuclear envelope attachment, bouquet formation, homolog pairing, and synapsis. Live-cell imaging revealed robust rapid prophase movements in wild-type meiocytes, which were nearly …
Reintroducing Fabp5 In Adulthood Activates Cell Cycle In Cardiomyocytes, Abou Bakr M Salama, Qinghui Ou, Marc Dwenger, Collin K Wells, Ahmad Gebreil, Jessica Miller, Kamal Abou Farraj, Yibing Nong, Reham M Wahid, Hania Abdelhafez, Momo Arai, Muzammil Dastagir, Mohammad Salman Khan, Pretty R Mathew, Mohamed Hamouda, Nourhan M Baraka, Waleed M Elhelaly, Jordan Rhamfield, Om Kulkarni, Joern Huelsmann, Sara Taha, Rebecca Liu, Sarah Bench, Sung Wook Kang, Victoria Rodriguez, Daniel Kraushaar, Hyun-Sung Lee, Livia S Eberlin, Bradford G Hill, Todd K Rosengart, Riham R E Abouleisa, Tamer M A Mohamed
Reintroducing Fabp5 In Adulthood Activates Cell Cycle In Cardiomyocytes, Abou Bakr M Salama, Qinghui Ou, Marc Dwenger, Collin K Wells, Ahmad Gebreil, Jessica Miller, Kamal Abou Farraj, Yibing Nong, Reham M Wahid, Hania Abdelhafez, Momo Arai, Muzammil Dastagir, Mohammad Salman Khan, Pretty R Mathew, Mohamed Hamouda, Nourhan M Baraka, Waleed M Elhelaly, Jordan Rhamfield, Om Kulkarni, Joern Huelsmann, Sara Taha, Rebecca Liu, Sarah Bench, Sung Wook Kang, Victoria Rodriguez, Daniel Kraushaar, Hyun-Sung Lee, Livia S Eberlin, Bradford G Hill, Todd K Rosengart, Riham R E Abouleisa, Tamer M A Mohamed
Faculty, Staff and Students Publications
Background and aims: Adult cardiomyocytes (CMs) have minimal proliferative capacity, limiting the heart's ability to regenerate after injury. While neonatal CMs can proliferate, the signaling pathways governing this process are poorly understood. This study aims to identify and reintroduce the neonatal-specific CM proliferation sensitizing signal to restore cell-cycle in adult CMs.
Methods and results: We identified CD36 as a marker for the neonatal spontaneously proliferating CMs. Bulk and Single cell RNAseq, and spatial transcriptomics analyses of the P1 WT, CD36KO and CD36CKO hearts revealed that a CD36/FABP5/PPARδ signaling axis was uniquely expressed in spontaneously proliferating CMs. Using unbiased metabolomics and …
Interface Geometry Governs Probe Insertion Mechanics And Electrode Deviation In Layered Brain-Mimicking Phantoms For Deep Brain Stimulation, Siyu Chen, Chengyuan Wu, Ethan Anders, Rungun Nathan, Olivia M. Bailey, Qifu Wang, Curtis L. Johnson, Qianhong Wu
Interface Geometry Governs Probe Insertion Mechanics And Electrode Deviation In Layered Brain-Mimicking Phantoms For Deep Brain Stimulation, Siyu Chen, Chengyuan Wu, Ethan Anders, Rungun Nathan, Olivia M. Bailey, Qifu Wang, Curtis L. Johnson, Qianhong Wu
Department of Neurosurgery Faculty Papers
Parkinson's disease (PD) is a progressive neurological disorder often treated with Deep Brain Stimulation (DBS), a surgical procedure that involves implanting electrodes to improve motor function. Accurate electrode placement is critical for treatment efficacy but can be influenced by tissue deformation, insertion forces, and the mechanical properties of brain tissue. In this study, we investigated the role of layer interface angle as a controlled biomechanical factor affecting insertion forces and electrode deviation. A two-layer agar gel phantom was constructed to produce a prescribed stiffness transition between a lower-stiffness and a higher-stiffness gel layer, and its small-amplitude dynamic shear-stiffness contrast was …
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
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 …
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
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 …
Association Between Nonsyndromic Congenital Heart Disease And Childhood Cancer In A Population-Based, Retrospective Cohort Of 11 Million Children, 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
Association Between Nonsyndromic Congenital Heart Disease And Childhood Cancer In A Population-Based, Retrospective Cohort Of 11 Million Children, 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
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 …
Blinatumomab Care Delivery For Pediatric B-Cell Acute Lymphoblastic Leukemia, Daniel Zheng, Katelyn Oranges, Subhash Ramakrishnan, Lingyun Ji, Melissa Beauchemin, Sarah Alexander, Allison Leahy, Kira Bona, Emi Caywood, Sharon Castellino, Sumit Gupta, Douglas Hawkins, Olga Militano, Kathleen Montgomery, Haley Newman, Rachel Rau, Susan Rheingold, Joanna Robles, Michael Roth, David Teachey, Sarah Vargas, Sue Zupanec, Susan Parsons
Blinatumomab Care Delivery For Pediatric B-Cell Acute Lymphoblastic Leukemia, Daniel Zheng, Katelyn Oranges, Subhash Ramakrishnan, Lingyun Ji, Melissa Beauchemin, Sarah Alexander, Allison Leahy, Kira Bona, Emi Caywood, Sharon Castellino, Sumit Gupta, Douglas Hawkins, Olga Militano, Kathleen Montgomery, Haley Newman, Rachel Rau, Susan Rheingold, Joanna Robles, Michael Roth, David Teachey, Sarah Vargas, Sue Zupanec, Susan Parsons
Department of Pediatrics Faculty Papers
IMPORTANCE: Blinatumomab, a novel immunotherapy administered as a 28-day continuous infusion, has fundamentally shifted the treatment paradigm for pediatric B-cell acute lymphoblastic leukemia (B-ALL) and is now considered a component of standard therapy for the most common childhood cancer. However, the care delivery challenges in transitioning from an experimental agent on a clinical trial to widespread clinical implementation are unknown.
OBJECTIVE: To characterize the clinical landscape of pediatric blinatumomab care-delivery practice and challenges in the US from the perspective of treating centers.
DESIGN, SETTING, AND PARTICIPANTS: This survey study was conducted from February to March 2025 among US member institutions …
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
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 …
Nanomedicine Beyond Carriers - Devices, Cells & Living Therapeutics, Santosh Aryal, Natalie Artzi, Gang Bao, Allan John R Barcena, Einav Bentov-Arava, Elvin Blanco, Corrine Ying Xuan Chua, Bruna Corradetti, Alexander M Cryer, Paolo Decuzzi, Marco De Giorgi, Cody Fell, Weiwei Gao, Balaji Govindaswamy, Wen Jiang, Goknur Kara, Michael R King, Sunil Krishnan, William R Lagor, Twan Lammers, Jessica Larsen, Francesco Manfredi, Devika Soundara Manickam, Katy Margulis, Marites Pasuelo Melancon, Silvie Meeuwissen, Michael A Miller, Michael J Mitchell, Samir Mitragotri, Anahita Mojiri, John P Cooke, Rohan Palanki, Imonkanta Phukan, Xianwei Sun, Patrick S Stayton, Eric A Tanifum, Omid Veiseh, Sonia Villapol, Jingyi Wang, Ryan Williams, Ravit Yakobi Arancibia, Liangfang Zhang, Alexander Kabanov, Biana Godin
Nanomedicine Beyond Carriers - Devices, Cells & Living Therapeutics, Santosh Aryal, Natalie Artzi, Gang Bao, Allan John R Barcena, Einav Bentov-Arava, Elvin Blanco, Corrine Ying Xuan Chua, Bruna Corradetti, Alexander M Cryer, Paolo Decuzzi, Marco De Giorgi, Cody Fell, Weiwei Gao, Balaji Govindaswamy, Wen Jiang, Goknur Kara, Michael R King, Sunil Krishnan, William R Lagor, Twan Lammers, Jessica Larsen, Francesco Manfredi, Devika Soundara Manickam, Katy Margulis, Marites Pasuelo Melancon, Silvie Meeuwissen, Michael A Miller, Michael J Mitchell, Samir Mitragotri, Anahita Mojiri, John P Cooke, Rohan Palanki, Imonkanta Phukan, Xianwei Sun, Patrick S Stayton, Eric A Tanifum, Omid Veiseh, Sonia Villapol, Jingyi Wang, Ryan Williams, Ravit Yakobi Arancibia, Liangfang Zhang, Alexander Kabanov, Biana Godin
Faculty, Staff and Students Publications
Nanomedicine has progressed far beyond its early role as an experimental drug-carrier toolbox and today stands as a clinically validated enabling technology. Liposomal formulations and albumin-bound nanoparticles have transformed cancer therapy, while lipid nanoparticle (LNP) platforms accelerated the rapid development and global deployment of SARS-CoV-2 mRNA vaccines-demonstrating how nanoscale engineering can reshape therapeutic response, manufacturing speed, and public health impact. With these successes as foundation, the field is rapidly expanding into more sophisticated delivery systems including cell-hitchhiking nanoparticles, biomimetic multivalent vaccines, implantable immunotherapy depots, high-loading polymeric micelles, organ-targeted gene and RNA carriers, and bio-hybrid extracellular vesicle and mitochondrial therapies. These …
Intrawound Vancomycin For Prevention Of Surgical Site Infection: Meta-Analysis Of Randomized Clinical Trials, Shaan Patel, Shiva Nischal, Kush Kale, Angelette Mendonca, Nelson Sofoluke, Srinivas Prasad, James Harrop, Daniel Refai
Intrawound Vancomycin For Prevention Of Surgical Site Infection: Meta-Analysis Of Randomized Clinical Trials, Shaan Patel, Shiva Nischal, Kush Kale, Angelette Mendonca, Nelson Sofoluke, Srinivas Prasad, James Harrop, Daniel Refai
Department of Neurosurgery Faculty Papers
BACKGROUND: Surgical site infection remains a major cause of postoperative morbidity. Intrawound vancomycin has been proposed as an adjunct to standard prophylaxis, but its effectiveness across surgical settings remains uncertain. This systematic review and meta-analysis of randomized clinical trials aimed to evaluate the association between intraoperative intrawound vancomycin and surgical site infection in adults undergoing surgery.
METHODS: MEDLINE, Embase, and CENTRAL were searched from database inception to March 2026 for randomized clinical trials comparing intrawound vancomycin with standard care in adults undergoing operative procedures. Two reviewers independently performed screening, data extraction, and risk-of-bias assessment using the Cochrane Risk of Bias …
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
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 …
Primary Care Use And Kidney Transplant Outcomes Among Patients On Hemodialysis - A Cohort Study, Dustin Le, Hatem Najar, Zoheb Backer, Rohanit Singh, Byoungjun Kim, Anna Flattau, Morgan E. Grams, Laura Plantinga, Bernard G. Jaar
Primary Care Use And Kidney Transplant Outcomes Among Patients On Hemodialysis - A Cohort Study, Dustin Le, Hatem Najar, Zoheb Backer, Rohanit Singh, Byoungjun Kim, Anna Flattau, Morgan E. Grams, Laura Plantinga, Bernard G. Jaar
Division of Nephrology Faculty Papers
BACKGROUND
Kidney transplantation is the optimal treatment for kidney failure, but whether primary care use among those on dialysis is associated with increased rates of kidney transplantation is unknown.
METHODS
We conducted a retrospective cohort study using United States Renal Data System (USRDS) and Medicare Parts A, B, and D claims to estimate the association between any primary care use (vs none) and both kidney transplantation and "active" kidney transplant waitlisting. Primary care use was defined as ≥ 1 outpatient visit to a family, general, geriatric, or internal medicine provider from January 1st, 2018 to December 31st …
Cost-Efficient Long-Read Trio-Barcoded Adaptive Sequencing Improves Rare Disease Diagnosis, Yilei Fu, Adam C English, Luis F Paulin, Shalini N Jhangiani, Nikhita Gogate, George Weissenberger, Vanessa Vee, Han Yi, Heer H Mehta, Donna M Muzny, Richard A Gibbs, Jennifer E Posey, Daniel G Calame, Fritz J Sedlazeck
Cost-Efficient Long-Read Trio-Barcoded Adaptive Sequencing Improves Rare Disease Diagnosis, Yilei Fu, Adam C English, Luis F Paulin, Shalini N Jhangiani, Nikhita Gogate, George Weissenberger, Vanessa Vee, Han Yi, Heer H Mehta, Donna M Muzny, Richard A Gibbs, Jennifer E Posey, Daniel G Calame, Fritz J Sedlazeck
Faculty, Staff and Students Publications
Rare diseases often remain unsolved because causal genetic changes can be complex and thus missed by standard sequencing or difficult to prioritize. Long-read sequencing can reveal structural variants, repeat expansions, DNA methylation and inherited haplotypes, but trio sequencing of an affected child and both parents remains costly. Here we show that phenotype-driven Trio-barcoded Oxford Nanopore Adaptive Sequencing (TBAS) enables cost-efficient long-read analysis of rare-disease trios on one flow cell. TBAS workflow uses clinical features to select broad disease-gene panels, barcodes all three family members and enriches these regions during sequencing rather than targeting a known causal locus. In benchmark regions, …
Artificial Intelligence Models For Automated And Semiautomated Analysis And Interpretation Of Clinical Electroencephalography, Sándor Beniczky, Birgit Frauscher, Fábio Nascimento, Shobi Sivathamboo, Catalina Rojas, Michael Sperling, Samden Lhatoo, Philippe Ryvlin, Levin Kuhlmann
Artificial Intelligence Models For Automated And Semiautomated Analysis And Interpretation Of Clinical Electroencephalography, Sándor Beniczky, Birgit Frauscher, Fábio Nascimento, Shobi Sivathamboo, Catalina Rojas, Michael Sperling, Samden Lhatoo, Philippe Ryvlin, Levin Kuhlmann
Department of Neurology Faculty Papers
Electroencephalography is the most commonly used diagnostic tool for epilepsy. However, interpreting electroencephalograms (EEGs) requires expertise that is not widely available. Advances in digital technology and wearables have enabled large-scale EEG recording, generating vast amounts of data that cannot be managed through traditional visual interpretation by experts. Artificial intelligence (AI) has the potential to augment human expertise and reduce workloads. The application of artificial neural networks in analysing clinical EEG recordings has led to major breakthroughs, bringing AI-based EEG interpretation closer to clinical implementation. In this Review, we summarise the most important research and development results in this field from …
Phenotypic Analysis Of Human And Murine Endometrial Organoids Using A Machine Learning Approach, Baku Nakakita, Suni Tang, Linda Alpuing Radilla, Brooke Thigpen, Xiaoming Guan, Diana Monsivais
Phenotypic Analysis Of Human And Murine Endometrial Organoids Using A Machine Learning Approach, Baku Nakakita, Suni Tang, Linda Alpuing Radilla, Brooke Thigpen, Xiaoming Guan, Diana Monsivais
Faculty, Staff and Students Publications
In brief: Endometrial organoids are a powerful 3D in-vitro system to study reproductive function and disease; however, available models for quantitative analysis of organoids are still developing and have not been assessed for endometrial organoids. This paper uses models to reliably segment individual organoids and phenotypically analyze human and murine endometrial organoids. Abstract: Endometrial organoids are a powerful, 3D in vitro system for studying reproductive function and disease since they are more physiologically representative than 2D cell models. However, optimal methods for the analysis of individual organoids are still developing and remain inconsistent throughout the field. To independently evaluate and …
Distinct Mutational Landscapes For Germline And Somatic Cancer Variants In Forty Tumor Suppressor Genes, Sharon E Plon
Distinct Mutational Landscapes For Germline And Somatic Cancer Variants In Forty Tumor Suppressor Genes, 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 …
Ceramide-Induced Endoplasmic Reticulum Stress Reveals A Targetable Vulnerability In Endocrine Therapy-Resistant Breast Cancer, Aanshi Vashi, Vipin Rawat, Fatimah Alani, Huiping Zhao, Malik Ata, Jun Qu, Rachel Schiff, Debra Tonetti, Geoffrey L Greene, Jonna Frasor, Gunes Ekin Atilla-Gokcumen, Jonathan L Coloff
Ceramide-Induced Endoplasmic Reticulum Stress Reveals A Targetable Vulnerability In Endocrine Therapy-Resistant Breast Cancer, Aanshi Vashi, Vipin Rawat, Fatimah Alani, Huiping Zhao, Malik Ata, Jun Qu, Rachel Schiff, Debra Tonetti, Geoffrey L Greene, Jonna Frasor, Gunes Ekin Atilla-Gokcumen, Jonathan L Coloff
Faculty, Staff and Students Publications
UNLABELLED: Despite the success of endocrine therapy (ET) in treating hormone receptor-positive breast cancer, a significant proportion of patients relapse during or after treatment, making ET resistance a major clinical challenge. Previously, we have shown that ET-resistant breast cancer cells exhibit reduced ceramide levels and an increased sensitivity to ceramide-induced cell death. In this study, we demonstrate that ceramides induce a distinct transcriptional reprogramming in ET-resistant cells, characterized by upregulation of endoplasmic reticulum stress (EnRS) pathways. Ceramide-induced EnRS is PERK-dependent and functionally linked to cell death in multiple models of ET resistance. Using a photoactivatable ceramide probe, we identify TRAM1 …
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
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 …
The Rise And Fall Of Lateral Electrical Surface Stimulation (Less) Through The Lens Of Srs Archives., Ali Rezazadeh Shirazi, Jay I. Kumar, Katie Dold, George H. Thompson, Andrew G. King, Richard M. Schwend, John P. Lubicky, Jay Shapiro, Behrooz A. Akbarnia, History Committee Of The Scoliosis Research Society
The Rise And Fall Of Lateral Electrical Surface Stimulation (Less) Through The Lens Of Srs Archives., Ali Rezazadeh Shirazi, Jay I. Kumar, Katie Dold, George H. Thompson, Andrew G. King, Richard M. Schwend, John P. Lubicky, Jay Shapiro, Behrooz A. Akbarnia, History Committee Of The Scoliosis Research Society
Manuscripts, Articles, Book Chapters and Other Papers
PURPOSE: Lateral electrical surface stimulation (LESS), commercially known as the ScoliTron™, emerged in the late 1970s as a noninvasive alternative to bracing for adolescent idiopathic scoliosis. Early clinical reports generated considerable enthusiasm and adoption, but the technique was ultimately abandoned. This study examined the rise and fall of LESS through a combined analysis of the Scoliosis Research Society (SRS) archives and published literature, with the goal of understanding factors that influence the adoption, evaluation, and abandonment of innovation in scoliosis care.
METHODS: A structured historical review was conducted using archival materials from the Scoliosis Research Society (SRS), including meeting abstracts, …
Posaconazole Target Attainment In Critically Ill Children: A 15-Year Single-Center Retrospective Analysis., Kathryn Pavia, Addison M. Pritchett Ms, Jennifer Goldman
Posaconazole Target Attainment In Critically Ill Children: A 15-Year Single-Center Retrospective Analysis., Kathryn Pavia, Addison M. Pritchett Ms, Jennifer Goldman
Manuscripts, Articles, Book Chapters and Other Papers
Posaconazole is a triazole antifungal agent used for prophylaxis and treatment of invasive fungal diseases. Posaconazole has high inter-individual variability in dose-exposure relationship and benefits from therapeutic drug monitoring (TDM). Adult studies report particularly high rates of subtherapeutic exposure among intensive care unit (ICU) patients related to changes in physiology during critical illness. The rates of subtherapeutic posaconazole exposure among critically ill children in ICU's are unknown. This single-center retrospective analysis at a large freestanding children's hospital used TDM results from 2010 to 2025 obtained while patients were undergoing care in a pediatric ICU. Therapeutic targets were ≥ 1.0 mg/L …
Patient-Specific Computational Fluid Dynamics Modeling Of Airway Collapse In Infants With Robin Sequence., Gautam Jalori, Michael Barbour, Michael Bindschadler, Kelly Evans, John P. Dahl, Alberto Aliseda
Patient-Specific Computational Fluid Dynamics Modeling Of Airway Collapse In Infants With Robin Sequence., Gautam Jalori, Michael Barbour, Michael Bindschadler, Kelly Evans, John P. Dahl, Alberto Aliseda
Manuscripts, Articles, Book Chapters and Other Papers
Robin Sequence (RS) is a congenital condition in which patients experience dynamic, periodic obstruction or collapse of the upper airway due to an underdeveloped jaw and a posteriorly displaced tongue. Current clinical techniques for evaluating airway obstruction do not provide quantifiable data and fail to account for the dynamic nature of obstruction or collapse. There is no standardized criterion to characterize obstruction or collapse severity. This study presents the first method that extracts airway motion from 4-dimensional computed tomography and performs a patient-specific, moving-mesh computational fluid dynamics (CFD) analysis of RS patients with complete airway collapse or obstruction. To quantify …
Postoperative Complications In Patients With Sickle Cell Disease After Total Shoulder Arthroplasty, Katie Zehner, Gwyneth C. Maloy, John Slevin, Wesley Day, Mitchell K. Ng, Xuan Luo, Jonathan N. Grauer, Arya G. Varthi
Postoperative Complications In Patients With Sickle Cell Disease After Total Shoulder Arthroplasty, Katie Zehner, Gwyneth C. Maloy, John Slevin, Wesley Day, Mitchell K. Ng, Xuan Luo, Jonathan N. Grauer, Arya G. Varthi
Rothman Institute Papers
BACKGROUND: Sickle cell disease (SCD) encompasses a spectrum of genetic hematologic disorders characterized by erythrocyte sickling. Patients may experience musculoskeletal manifestations, such as osteonecrosis, which may warrant consideration for total shoulder arthroplasty (TSA). While prior literature suggests patients with SCD more frequently suffer complications after orthopaedic procedures, this is not well characterized for TSA.
METHODS: Adult TSA patients (older than 18 years) were identified in the 2010 to 2023 PearlDiver M170 database. Patients with SCD were matched 1:4 to patients without SCD based on age, sex, and Elixhauser Comorbidity Index (ECI). Ninety-day postoperative complications, emergency department (ED) visits, and readmissions …
Timing Of Isotretinoin Exposure And Early Postoperative Complications After Anterior Cruciate Ligament Reconstruction, Areeb Ahmad, Ronald J. Shamus, Kassem Ghayyad, Daryl C. Osbahr, Adam J. Money, Michael G. Ciccotti, George J. Richard
Timing Of Isotretinoin Exposure And Early Postoperative Complications After Anterior Cruciate Ligament Reconstruction, Areeb Ahmad, Ronald J. Shamus, Kassem Ghayyad, Daryl C. Osbahr, Adam J. Money, Michael G. Ciccotti, George J. Richard
Rothman Institute Papers
INTRODUCTION: Isotretinoin (ITN) is widely prescribed for severe acne in adolescents and young adults, a population where anterior cruciate ligament reconstruction (ACLR) is commonly performed. Long-standing concerns about impaired wound healing have prompted many surgeons to delay procedures, despite limited orthopaedic-specific evidence. This retrospective case series evaluates early postoperative clinical complications in patients with documented ITN exposure undergoing ACLR.
METHODS: We retrospectively reviewed primary ACLR cases from 2015 to 2025 at a multisite orthopaedic practice with documented ITN exposure within 12 months of surgery and at least 3 months of follow-up. ITN exposure was categorized as perioperative (≤10 days), recent …
Bivip: A Competitive Neural Network For Bilateral Visuo-Haptic Processing, Laura Astolfi, Cristiano Cuppini
Bivip: A Competitive Neural Network For Bilateral Visuo-Haptic Processing, Laura Astolfi, Cristiano Cuppini
Faculty, Staff and Students Publications
Visuo-haptic interactions are gaining interest in perception research because of their relevance to robotics and rehabilitation. While the benefits of integrating concurrent visuo-tactile cues are well-documented, the temporal dynamics of competitive interactions between vision and touch remain less understood. Building on extant empirical evidence of unilateral intersensory switching, we ask whether bilateral detection of visual and tactile stimuli can be explained by cross-sensory competition and explore the underlying sensorineural dynamics via a multi-level neural network model. Tested against results from a speeded reaction time task to unilateral and bilateral visual, tactile, and visuo-tactile targets, the network successfully predicts higher switch …
Population Pharmacokinetics Of Bosutinib In Children With Philadelphia Chromosome-Positive Chronic Myelogenous Leukemia Based On A Phase I Dose-Finding Trial (Itcc-054/Cog Aaml1921) And Pediatric Recommended Phase Ii Dosage Evaluation, Marieke Willemse, Karey Kowalski, Brian Jermain, May Garrett, Andrew Bukowinski, Carmelo Rizzari, Jessica Pollard, Laura Murillo-Sanjuán, Matthew Kutny, Sara Zarnegar-Lumley, Michele Redell, Stacy Cooper, Yves Bertrand, Arnaud Petit, Julie Krystal, Markus Metzler, Donna Lancaster, Jean-Pierre Bourquin, Jayashree Motwani, Inge M Van Der Sluis, Franco Locatelli, Michael E Roth, Nobuko Hijiya, C Michel Zwaan, Alwin D R Huitema
Population Pharmacokinetics Of Bosutinib In Children With Philadelphia Chromosome-Positive Chronic Myelogenous Leukemia Based On A Phase I Dose-Finding Trial (Itcc-054/Cog Aaml1921) And Pediatric Recommended Phase Ii Dosage Evaluation, Marieke Willemse, Karey Kowalski, Brian Jermain, May Garrett, Andrew Bukowinski, Carmelo Rizzari, Jessica Pollard, Laura Murillo-Sanjuán, Matthew Kutny, Sara Zarnegar-Lumley, Michele Redell, Stacy Cooper, Yves Bertrand, Arnaud Petit, Julie Krystal, Markus Metzler, Donna Lancaster, Jean-Pierre Bourquin, Jayashree Motwani, Inge M Van Der Sluis, Franco Locatelli, Michael E Roth, Nobuko Hijiya, C Michel Zwaan, Alwin D R Huitema
Faculty, Staff and Students Publications
Background and objectives: Bosutinib, an orally administered dual Src and Bcr-Abl tyrosine kinase inhibitor (TKI), is approved for the treatment of chronic phase Philadelphia chromosome-positive chronic myelogenous leukemia, newly diagnosed or resistant/intolerant to previous treatment of one or more TKIs in adults and children ≥ 1 years (by the US Food and Drug Administration) and ≥ 6 years (by the European Medicines Agency). Owing to the limitations of non-compartmental analysis in pharmacokinetic (PK) characterization, this study applies a prior population PK modeling approach to describe the pediatric PK of bosutinib on the basis of its phase I dose-finding trial and …
Loss Of Function Dnmt3a Mutation Leads To Aberrant Neutrophil Migration, Ruoqiong Cao, Sarah M Waldvogel, Apoorva Thatavarty, Bryan Bahoua, Brandon T Tran, Arushana A Maknojia, Margaret A Goodell, Antony Rodriguez, Katie A Matatall, Katherine Y King
Loss Of Function Dnmt3a Mutation Leads To Aberrant Neutrophil Migration, Ruoqiong Cao, Sarah M Waldvogel, Apoorva Thatavarty, Bryan Bahoua, Brandon T Tran, Arushana A Maknojia, Margaret A Goodell, Antony Rodriguez, Katie A Matatall, Katherine Y King
Faculty, Staff and Students Publications
Clonal hematopoiesis (CH), an age-related expansion of somatically mutated hematopoietic clones, is associated with increased risk of severe infections including coronavirus disease (COVID)-19, yet the underlying mechanisms remain unclear. Here, we investigated the impact of Dnmt3a deficiency in a murine model of influenza A virus (IAV) pneumonia. Dnmt3a-deficient mice exhibited increased pulmonary viral burden and reduced neutrophil accumulation in IAV-infected lungs despite comparable circulating neutrophil numbers. Functional analyses of neutrophils showed impaired chemotactic migration in vitro, whereas maturation, antimicrobial enzyme content, and metabolic capacity were unchanged. Transcriptomic profiling revealed downregulation of pathways involved in chemotaxis, cytokine signaling, and cellular activation, …
Beyond Resection: Determinants Of Outcome After Pediatric Brain Arteriovenous Malformation Surgery, Goran Tasić, Aleksandar Janićijević, Jelena Kostić, Aleksandar Milosavljević, Nikola Jovićević, Nikola Repac, Igor Nikolić, Ana Tasić, Maša Radovanović, Vladimir Jovanović
Beyond Resection: Determinants Of Outcome After Pediatric Brain Arteriovenous Malformation Surgery, Goran Tasić, Aleksandar Janićijević, Jelena Kostić, Aleksandar Milosavljević, Nikola Jovićević, Nikola Repac, Igor Nikolić, Ana Tasić, Maša Radovanović, Vladimir Jovanović
Faculty, Staff and Students Publications
Background and Objectives: brain arteriovenous malformations (AVMs) are a leading cause of spontaneous intracranial hemorrhage in children and carry a disproportionately high lifetime hemorrhagic risk.
Materials and Methods: We retrospectively analyzed clinical, morphological, and surgical factors associated with functional outcome in 30 consecutive pediatric patients (≤18 years) who underwent microsurgical AVM resection at a single tertiary neurosurgical center between January 2015 and December 2025.
Results: Functional status was assessed with the modified Rankin Scale (mRS) at hospital discharge and at 6–9 months of follow-up; the Wilcoxon signed-rank test, Mann–Whitney U test, Fisher’s exact test, Spearman correlation, and univariable logistic regression …
The American Society Of Extracorporeal Technology Standards And Guidelines For Pediatric And Congenital Perfusion Practice: 2025 Update☆., Molly Elisabeth Oldeen, Carrie Whittaker Striker, Ronald Angona, Dafne Andrea Chianella, Chelsea Capone, Ashley B Walczak, Thomas Klein
The American Society Of Extracorporeal Technology Standards And Guidelines For Pediatric And Congenital Perfusion Practice: 2025 Update☆., Molly Elisabeth Oldeen, Carrie Whittaker Striker, Ronald Angona, Dafne Andrea Chianella, Chelsea Capone, Ashley B Walczak, Thomas Klein
Heart and Vascular Articles
Background: In 2019, the American Society of ExtraCorporeal Technology (AmSECT) approved the inaugural Standards and Guidelines for Pediatric and Congenital Perfusion Practice. These standards and guidelines were created with the intent of periodic revision to ensure continued alignment with evolving best practices. In 2023, an AmSECT subcommittee initiated this review in consideration of current literature and contemporary clinical practices.
Methods: The subcommittee, consisting of pediatric and congenital perfusionists, conducted a systematic literature review assessing each standard and guideline to determine if current evidence supports elevation of guidelines to standards, incorporation of new guidelines or standards, or whether existing standards and …
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
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 …