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Androgen Activity In The Male Embryonic Hindbrain Drives Lethal Pfa Ependymoma, Jiao Zhang, Winnie Ong, Alexandra Rasnitsyn, Ricardo Daniel Gonzalez, Rodrigo Lopez Gutierrez, Polina Balin, Amr Saadeldin, Xiaochong Wu, Maria C Vladoiu, Vicente Santa-Maria Lopez, Fernando Gonzalez-Salinas, Navneesh Yadav, Dinesh Mohanakrishnan, Kannan Boosi Narayana Rao, Raja Gopal Reddy Mooli, Hinda Najem, Sebastian Pacheco, Kaitlin Kharas, Cory Richman, David Przelicki, Evan Y Wang, Haipeng Su, Rachel Naomi Curry, Runze Yang, Michelle Masayo Kameda-Smith, Bryn Livingston, David Scott, Zaili Luo, Mingyang Xia, Namal Abeysundara, Anders W Erickson, Ncedile Mankahla, Lucas Zhongming Hu, Chu Pan, Raul Suarez, Ning Huang, Yihao Wu, Hao Wang, Tajana Douglas, Jonelle Pallota, Steven Hébert, Karen Ng, Krystin Mantione, Heather Whetstone, Hassaan Maan, Hussein Lakkis, Juyeun Lee, Sadeesh K Ramakrishnan, Yanxin Pei, Yujie Tang, Frank Y Lin, Guillermo Aldave, Marco Gallo, Robert M Friedlander, Faiyaz Notta, Laura K Donovan, Murali Chintagumpala, Bo Wang, Yun Li, Daniel D De Carvalho, Zhaolei Zhang, Ying Mao, Wei Hua, Charles Eberhart, Calixto-Hope G Lucas, Sriram Venneti, Poul H Sorensen, Alberto Delaidelli, Hao Li, Wenhao Zhou, Jason Kirk, Dean G Tang, Tao Jiang, Hailong Liu, Justin D Lathia, Hiromichi Suzuki, Jeremy N Rich, Lincoln D Stein, Nada Jabado, Vijay Ramaswamy, Q Richard Lu, Amy B Heimberger, Craig Daniels, Kulandaimanuvel Antony Michealraj, Claudia L Kleinman, Michael D Taylor Apr 2026

Androgen Activity In The Male Embryonic Hindbrain Drives Lethal Pfa Ependymoma, Jiao Zhang, Winnie Ong, Alexandra Rasnitsyn, Ricardo Daniel Gonzalez, Rodrigo Lopez Gutierrez, Polina Balin, Amr Saadeldin, Xiaochong Wu, Maria C Vladoiu, Vicente Santa-Maria Lopez, Fernando Gonzalez-Salinas, Navneesh Yadav, Dinesh Mohanakrishnan, Kannan Boosi Narayana Rao, Raja Gopal Reddy Mooli, Hinda Najem, Sebastian Pacheco, Kaitlin Kharas, Cory Richman, David Przelicki, Evan Y Wang, Haipeng Su, Rachel Naomi Curry, Runze Yang, Michelle Masayo Kameda-Smith, Bryn Livingston, David Scott, Zaili Luo, Mingyang Xia, Namal Abeysundara, Anders W Erickson, Ncedile Mankahla, Lucas Zhongming Hu, Chu Pan, Raul Suarez, Ning Huang, Yihao Wu, Hao Wang, Tajana Douglas, Jonelle Pallota, Steven Hébert, Karen Ng, Krystin Mantione, Heather Whetstone, Hassaan Maan, Hussein Lakkis, Juyeun Lee, Sadeesh K Ramakrishnan, Yanxin Pei, Yujie Tang, Frank Y Lin, Guillermo Aldave, Marco Gallo, Robert M Friedlander, Faiyaz Notta, Laura K Donovan, Murali Chintagumpala, Bo Wang, Yun Li, Daniel D De Carvalho, Zhaolei Zhang, Ying Mao, Wei Hua, Charles Eberhart, Calixto-Hope G Lucas, Sriram Venneti, Poul H Sorensen, Alberto Delaidelli, Hao Li, Wenhao Zhou, Jason Kirk, Dean G Tang, Tao Jiang, Hailong Liu, Justin D Lathia, Hiromichi Suzuki, Jeremy N Rich, Lincoln D Stein, Nada Jabado, Vijay Ramaswamy, Q Richard Lu, Amy B Heimberger, Craig Daniels, Kulandaimanuvel Antony Michealraj, Claudia L Kleinman, Michael D Taylor

Faculty, Staff and Students Publications

Posterior fossa type A (PFA) ependymoma is an unusual infantile brain tumour with few known somatic mutations, thought to be driven by epigenetic mechanisms1. PFA ependymoma has a markedly higher incidence and worse prognosis in male children than in female children2. The mechanisms that underlie these sex differences are at present unknown. Here we show that the cellular hierarchy of PFA ependymoma is less differentiated in male individuals than it is in female individuals. In the normal developing mouse hindbrain, male gliogenic progenitors are less differentiated than matched female sibling controls. To further parse the effects …


Da Vinci Single-Port Transvaginal Natural Orifice Transluminal Endoscopic Surgery (Vnotes) Sacrocolpopexy: A Case Report And Literature Review, Xiaoming Guan, Chunhua Zhang, Qiannan Yang, Shunjia Hong, Wai Ieng Fong Apr 2026

Da Vinci Single-Port Transvaginal Natural Orifice Transluminal Endoscopic Surgery (Vnotes) Sacrocolpopexy: A Case Report And Literature Review, Xiaoming Guan, Chunhua Zhang, Qiannan Yang, Shunjia Hong, Wai Ieng Fong

Faculty, Staff and Students Publications

Pelvic organ prolapse remains a common condition requiring durable surgical correction, with sacrocolpopexy considered the gold standard. Transvaginal natural orifice transluminal endoscopic surgery (vNOTES) has emerged as a scarless minimally invasive approach, while the integration of robotic single-port technology may further enhance surgical precision and ergonomics. However, data on robotic-assisted single-port vNOTES (RSP-vNOTES) sacrocolpopexy remains limited. We report a case of a 58-year-old Asian woman with symptomatic apical pelvic organ prolapse. The pelvic organ prolapse quantification (POP-Q) assessment demonstrated stage II uterine prolapse. She underwent robotic-assisted single-port vNOTES (RSP-vNOTES) sacrocolpopexy using the da Vinci single-port (SP) platform. The procedure was …


Robotic Single-Incision Laparoscopic Surgery For The Management Of Endometriosis: First Experience Via The Da Vinci Sp Platform, Qiannan Yang, Daniel Y Lovell, Xiaoming Guan Apr 2026

Robotic Single-Incision Laparoscopic Surgery For The Management Of Endometriosis: First Experience Via The Da Vinci Sp Platform, Qiannan Yang, Daniel Y Lovell, Xiaoming Guan

Faculty, Staff and Students Publications

Objective: To demonstrate the feasibility and mid-term outcomes of Robotic single-port single-incision laparoscopic surgery (RSP-SILS) for endometriosis management.

Methods: A retrospective analysis was conducted on 50 adult women with endometriosis who underwent RSP-SILS via the da Vinci SP platform between November 2023 and July 2025.

Results: Median total operative time was 142 min, robot dock time was 3 min, and robot console time was 99 min. Median estimated blood loss was 25 mL. No conversion occurred. Reported mid-term outcomes included 1 case each of pelvic haematoma, Clostridioides difficile colitis, and umbilical surgical site infection, as well as 3 cases of …


A Comprehensive Review Of Tear Fluid Proteome Alterations In Dry Eye Disease: Insights Into Pathophysiology And Biomarker Potential, Saleh Ahmed, Steven Safille, Victoria Clifton, Shruti Sharma, Cintia S De Paiva, Ashok Sharma Apr 2026

A Comprehensive Review Of Tear Fluid Proteome Alterations In Dry Eye Disease: Insights Into Pathophysiology And Biomarker Potential, Saleh Ahmed, Steven Safille, Victoria Clifton, Shruti Sharma, Cintia S De Paiva, Ashok Sharma

Faculty, Staff and Students Publications

Tear fluid is a highly specialized and dynamic biofluid composed of proteins, lipids, mucins, and electrolytes that is essential for maintaining ocular surface integrity, immune defense, and tear film stability. Growing evidence from tear proteomic studieshas revealed extensive alterations in protein composition in dry eye disease (DED), reflecting a complex interplay between local ocular surface pathology and systemic inflammatory influences. This review summarizes proteomic findings from 50 published studies to identify tear proteins that are consistently upregulated or downregulated in DED and to interpret their biological relevance in the context of ocular surface homeostasis. Across studies, proteins upregulated in DED …


Comprehensive Profiling Of The Human Tear Fluid Mirnome Using Small Rna Sequencing, Garrett Jones, Drew Mayernik, Saleh Ahmed, Eliza Williams, Jeremy Altman, Tae Jin Lee, Amy Estes, Cintia S De Paiva, Pamela Martin, Shruti Sharma, Ashok Sharma Apr 2026

Comprehensive Profiling Of The Human Tear Fluid Mirnome Using Small Rna Sequencing, Garrett Jones, Drew Mayernik, Saleh Ahmed, Eliza Williams, Jeremy Altman, Tae Jin Lee, Amy Estes, Cintia S De Paiva, Pamela Martin, Shruti Sharma, Ashok Sharma

Faculty, Staff and Students Publications

Purpose: To generate a comprehensive profile of microRNAs (miRNAs) present in human tear fluid using next-generation sequencing (NGS), establish a reference miRNome for healthy human tear fluid, and investigate whether miRNA expression varies by sex, race, or age.

Methods: Tear samples were collected from 32 adults using Schirmer strips. RNA was isolated using the miRNeasy Serum/Plasma Kit, and cDNA libraries were prepared using the QIAseq miRNA Library Kit. Barcoded libraries were sequenced on the NovaSeq 6000 platform. Bioinformatic analyses included adapter trimming, alignment to miRBase, normalization with DESeq2, and functional annotation using multiMiR and clusterProfiler. Differential expression analysis was performed …


Hemodialysis Access-Related High-Output Heart Failure: From Mechanisms To Multidisciplinary Management, Chukwuemezie Mamanu, Estefania Oliveros, Yevgeniy Brailovsky Apr 2026

Hemodialysis Access-Related High-Output Heart Failure: From Mechanisms To Multidisciplinary Management, Chukwuemezie Mamanu, Estefania Oliveros, Yevgeniy Brailovsky

Department of Medicine Faculty Papers

No abstract provided.


Author Correction: Phenome-Wide Analysis Of Copy Number Variants In 470,727 Uk Biobank Genomes, Xueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, Oliver S Burren, Xiaoyin Li, Karyn Megy, Eleanor Wheeler, Qiang Wu, Santosh S Atanur, Marcin Karpinski, Douglas Loesch, Zammy Fairhurst-Hunter, Sri V V Deevi, Erin Oerton, Sean Wen, Xiao Jiang, Cecilia Salvoro, Jonathan Mitchell, Abhishek Nag, Ben Hollis, Amanda O'Neill, Astrazeneca Genomics Initiative, Jen Harrow, Stewart Macarthur, Sebastian Wasilewski, Sean O'Dell, Lifeng Tian, Katherine R Smith, Guillermo Del Angel, Margarete Fabre, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, Keren Carss Apr 2026

Author Correction: Phenome-Wide Analysis Of Copy Number Variants In 470,727 Uk Biobank Genomes, Xueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, Oliver S Burren, Xiaoyin Li, Karyn Megy, Eleanor Wheeler, Qiang Wu, Santosh S Atanur, Marcin Karpinski, Douglas Loesch, Zammy Fairhurst-Hunter, Sri V V Deevi, Erin Oerton, Sean Wen, Xiao Jiang, Cecilia Salvoro, Jonathan Mitchell, Abhishek Nag, Ben Hollis, Amanda O'Neill, Astrazeneca Genomics Initiative, Jen Harrow, Stewart Macarthur, Sebastian Wasilewski, Sean O'Dell, Lifeng Tian, Katherine R Smith, Guillermo Del Angel, Margarete Fabre, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, Keren Carss

Duncan NRI Faculty and Staff Publications

No abstract provided.


Rexinoid Net-3ib Promotes Resident Macrophage Gene Expression And Mitigates Desiccation-Induced Ocular Surface Disease, Jehan Alam, Yangluowa Qu, Jianming Shao, Ebru Yaman, Karen Zheng, Hiroki Kakuta, Stephen C Pflugfelder Apr 2026

Rexinoid Net-3ib Promotes Resident Macrophage Gene Expression And Mitigates Desiccation-Induced Ocular Surface Disease, Jehan Alam, Yangluowa Qu, Jianming Shao, Ebru Yaman, Karen Zheng, Hiroki Kakuta, Stephen C Pflugfelder

Faculty, Staff and Students Publications

Purpose: To evaluate the effects of rexinoid NEt-3IB on desiccating stress-induced dry eye, as well as monocyte/macrophage gene expression and cellular trajectory.

Methods: Eyes were topically treated with rexinoid NEt-3IB (5 µM) or vehicle three times a day for 5 days of desiccating stress-induced dry eye. Single-cell RNA sequencing (RNA-seq) profiled gene expression in conjunctival immune cells. RNA-seq was also used to evaluate gene expression in lipopolysaccharide (LPS)-stimulated, dexamethasone-treated (Dex, 1 µM), or NEt-3IB-treated (1-1000 nM) cultured monocytes. Cellular state trajectory and latent time were inferred with scVelo, and latent-time-associated genes were identified using Monocle 3. Permeability to Oregon Green-labeled …


Weaning Drives Microbiome-Mediated Epigenetic Regulation To Shape Immune Memory In Mice, Li Yang, Robert C Peery, Shirui Zhou, Xiaomin Chen, Leah M Farmer, Fabiola Gutierrez, Stephanie Fowler, Lanjing Zhang, Julia M Salamat, Karen Riggins, Jiejun Shi, Lanlan Shen Apr 2026

Weaning Drives Microbiome-Mediated Epigenetic Regulation To Shape Immune Memory In Mice, Li Yang, Robert C Peery, Shirui Zhou, Xiaomin Chen, Leah M Farmer, Fabiola Gutierrez, Stephanie Fowler, Lanjing Zhang, Julia M Salamat, Karen Riggins, Jiejun Shi, Lanlan Shen

Children’s Nutrition Research Center Staff Publications

During weaning, the transition to solid food diversifies the gut microbiome, triggering a programmed immune response critical for long-lasting mucosal immunity. Previous work showed that the gut microbiome mediates epigenetic development in intestinal stem cells (ISCs) during suckling, but what happens during weaning is unclear. Here, genome-wide profiling revealed that weaning-driven microbiome changes shape the DNA methylome and transcriptome of murine ISCs in an IFNγ-dependent manner. Specifically, we observe demethylation of enhancer elements essential for MHC class II genes, which results in a transcriptional memory that persists through differentiation into adulthood. IFNγ blockade, or low-dose penicillin to target Gram-positive bacteria, …


Robotic-Assisted Transumbilical Single-Site And Transvaginal Notes Resection Of Abdominal Wall Cesarean Scar Endometriosis: Two Case Reports, Xiaoming Guan, Qiannan Yang, Victoria Zhang, Chunhua Zhang Apr 2026

Robotic-Assisted Transumbilical Single-Site And Transvaginal Notes Resection Of Abdominal Wall Cesarean Scar Endometriosis: Two Case Reports, Xiaoming Guan, Qiannan Yang, Victoria Zhang, Chunhua Zhang

Faculty, Staff and Students Publications

No abstract provided.


Results Of A Randomized, Double-Masked, Placebo-Controlled Phase 1/2 Study Of A Trpv1 Antagonist Sjp-0132 In Participants With Dry Eye Disease, Tomoyuki Wada, Kazunori Omatsu, Stephen C Pflugfelder Apr 2026

Results Of A Randomized, Double-Masked, Placebo-Controlled Phase 1/2 Study Of A Trpv1 Antagonist Sjp-0132 In Participants With Dry Eye Disease, Tomoyuki Wada, Kazunori Omatsu, Stephen C Pflugfelder

Faculty, Staff and Students Publications

Purpose: To investigate the safety, tolerability, pharmacokinetic profile, and efficacy of SJP-0132 in participants with dry eye disease (DED).

Design: Phase 1/2, randomized, double-masked, single-center, placebo-controlled single and multiple ascending dose study.

Participants: Generally healthy adults aged ≥18 years with a patient-reported history of DED for ≥6 months, eye dryness visual analog scale (VAS: 0-100) ≥40 mm, 5-item dry eye questionnaire (DEQ-5) ≥6, and central corneal fluorescein staining (CFS) of 2 to 4 (Baylor scale: 0-5 for each of five zones).

Methods: This study consisted of Part A and Part B, containing four single- and two multiple-ascending dose cohorts, respectively. …


Avacincaptad Pegol For Geographic Atrophy Secondary To Age-Related Macular Degeneration: Two-Year Efficacy And Safety Results From The Gather2 Phase 3 Trial, Arshad M Khanani, Carl J Danzig, Jeffrey S Heier, Glenn J Jaffe, Peter K Kaiser, David R Lally, Sunil S Patel, Lejla Vajzovic, Christina Y Weng, Hersh Patel, Julie Clark, Dhaval Desai, Don Luo, Erin Henry, Frank G Holz Apr 2026

Avacincaptad Pegol For Geographic Atrophy Secondary To Age-Related Macular Degeneration: Two-Year Efficacy And Safety Results From The Gather2 Phase 3 Trial, Arshad M Khanani, Carl J Danzig, Jeffrey S Heier, Glenn J Jaffe, Peter K Kaiser, David R Lally, Sunil S Patel, Lejla Vajzovic, Christina Y Weng, Hersh Patel, Julie Clark, Dhaval Desai, Don Luo, Erin Henry, Frank G Holz

Faculty, Staff and Students Publications

Purpose: Avacincaptad pegol (ACP) is a pegylated RNA aptamer that inhibits complement C5. The efficacy and safety of ACP 2 mg was investigated in GATHER2, with positive year 1 results published. Herein, 2-year results are reported.

Design: Phase 3, randomized, sham-controlled study (ClinicalTrials.gov identifier, NCT04435366).

Participants: Patients with non-center point-involving geographic atrophy (GA).

Methods: Eligible patients were randomized 1:1 to receive monthly ACP 2 mg (n = 225) or sham (n = 222) for 1 year. At month 12, patients who received ACP 2 mg were randomized again 1:1 to dosing every month (EM; n = 96) or every …


Body Mass Index And Survival In Children Receiving Extracorporeal Membrane Oxygenation, Pilar Anton-Martin, Keith Baxelbaum, Shilpa Vellore, Erika O'Neil, Vinai Modem, Sameer Thadani Apr 2026

Body Mass Index And Survival In Children Receiving Extracorporeal Membrane Oxygenation, Pilar Anton-Martin, Keith Baxelbaum, Shilpa Vellore, Erika O'Neil, Vinai Modem, Sameer Thadani

Faculty, Staff and Students Publications

Importance: Underweight and obesity represent opposite ends of the nutritional risk spectrum that negatively affect children's health worldwide. Both conditions have been associated with increased mortality in pediatric patients receiving extracorporeal membrane oxygenation (ECMO) support.

Objective: To investigate the association of underweight and obesity status with pediatric ECMO outcomes using body mass index (BMI) z scores.

Design, setting, and participants: This retrospective cohort analysis used data from the Extracorporeal Life Support Organization (ELSO) database from January 1, 2019, to December 31, 2023. Participants included all pediatric patients from international ECMO centers aged 29 days to 18 years who received ECMO …


Yield Of Injury Testing For Contacts Of Children Evaluated For Physical Abuse, Lígia Batista, Joanne N Wood, Tagrid M Ruiz-Maldonado, M Katherine Henry, Jan Leonard, Angela Bachim, James D Anderst, Farah W Brink, Hannah B Sahud, Lori D Frasier, Nancy S Harper, Natalie Laub, Colleen J Bressler, Daniel M Lindberg Apr 2026

Yield Of Injury Testing For Contacts Of Children Evaluated For Physical Abuse, Lígia Batista, Joanne N Wood, Tagrid M Ruiz-Maldonado, M Katherine Henry, Jan Leonard, Angela Bachim, James D Anderst, Farah W Brink, Hannah B Sahud, Lori D Frasier, Nancy S Harper, Natalie Laub, Colleen J Bressler, Daniel M Lindberg

Faculty, Staff and Students Publications

Background: Siblings and household contacts of physically abused children are at increased risk for physical abuse and may have injuries that are not clinically apparent. However, injury testing recommendations for contact children remain debated.

Objective: Our objective was to describe testing practices and yield for contacts of physically abused children.

Participants and settings: This is a cross-sectional study of children < 10 years old evaluated for physical abuse at 10 US pediatric referral centers in the CAPNET research network.

Methods: We report the proportion of contact children who had a skeletal survey (SS) or neuroimaging and describe the proportion of tests that identified injuries.

Results: Among 6256 index evaluations, 4863 contacts were identified. Among 794 contacts with physical examinations, …


Tfeb Degradation Is Regulated By An Ikk/Β-Trcp2 Phosphorylation-Ubiquitination Cascade, Yan Xiong, Jaiprakash Sharma, Meggie N Young, Wen Xiong, Ali Jazayeri, Karl F Poncha, Ma Xenia G Ilagan, Qing Wang, Bei Gao, Hui Zheng, Nicolas L Young, Marco Sardiello Apr 2026

Tfeb Degradation Is Regulated By An Ikk/Β-Trcp2 Phosphorylation-Ubiquitination Cascade, Yan Xiong, Jaiprakash Sharma, Meggie N Young, Wen Xiong, Ali Jazayeri, Karl F Poncha, Ma Xenia G Ilagan, Qing Wang, Bei Gao, Hui Zheng, Nicolas L Young, Marco Sardiello

Center on Aging Staff Publications

Transcription factor EB (TFEB) is a master regulator of lysosomal biogenesis and cellular clearance pathways. TFEB activity is tightly controlled by multiple post-translational mechanisms, but the exact molecular mechanism controlling its stability has remained elusive. Here, we identify the IκB kinase (IKK) complex as a key regulator of TFEB protein stability through a phosphorylation-ubiquitination cascade. A high-content kinase inhibitor screen reveals that IKK inhibition increases TFEB protein levels, and genetic ablation of IKK components increases TFEB stability, upregulates lysosomal genes, and enhances lysosomal biogenesis and degradative capacity. Mechanistically, we show that IKK phosphorylates TFEB on a cluster of serine residues …


The Impact Of Estrogen Replacement During Perimenopause On Lung Function And Airway Inflammation In The Vcd Mouse Model, William P Pederson, Laurie Michelle Ellerman, Riley D Hellinger, Joselyn Joanna Rojas Quintero, Francesca Polverino, John P Konhilas, Julie G Ledford Apr 2026

The Impact Of Estrogen Replacement During Perimenopause On Lung Function And Airway Inflammation In The Vcd Mouse Model, William P Pederson, Laurie Michelle Ellerman, Riley D Hellinger, Joselyn Joanna Rojas Quintero, Francesca Polverino, John P Konhilas, Julie G Ledford

Faculty, Staff and Students Publications

Background:

Menopause associated asthma impacts a subset of women and is less responsive to current treatments. Mechanisms driving this late onset asthma are unknown. We recently developed a mouse model of menopause associated asthma using a combination of 4-Vinylcyclohexene Diepoxide (VCD) and House Dust Mite (HDM) exposures. The goal of this study was to determine how hormone replacement therapy during perimenopause impacts lung function and inflammation.

Methods:

The experimental groups included menopausal mice (VCD) with and without exposure to HDM (to model allergic airways disease) and menopausal mice with and without hormone replacement therapy (HRT; via estrogen pellet implantation). Lung …


Black Equality In Ocd Neurogenomics (Belong): Study Protocol, Iasha J Williams, Dalia Y Marquez, Kara E Lopez-Lengowski, Malini Bommiasamy, Ogechi Cynthia Onyeka, Slayton J Underwood, Juliana E Avery, Jacob Gluckman, Thariana Pichardo, Rhea Chandler, Yulu Brown, Katie Mangen, Emma Grace Choplin, Black Equality In Ocd Neurogenomics (Belong) Study Team, Sonyia C Richardson, Joseph D Buxbaum, Eric A Storch, James J Crowley, Sidney H Hankerson, Dorothy E Grice Apr 2026

Black Equality In Ocd Neurogenomics (Belong): Study Protocol, Iasha J Williams, Dalia Y Marquez, Kara E Lopez-Lengowski, Malini Bommiasamy, Ogechi Cynthia Onyeka, Slayton J Underwood, Juliana E Avery, Jacob Gluckman, Thariana Pichardo, Rhea Chandler, Yulu Brown, Katie Mangen, Emma Grace Choplin, Black Equality In Ocd Neurogenomics (Belong) Study Team, Sonyia C Richardson, Joseph D Buxbaum, Eric A Storch, James J Crowley, Sidney H Hankerson, Dorothy E Grice

Faculty, Staff and Students Publications

Obsessive-compulsive disorder (OCD) is a chronic, serious psychiatric disorder that affects 2%-3% of the population and is associated with high personal and societal costs. Genetic factors are estimated to explain roughly half the risk of developing OCD, and genomic studies are just beginning to identify common and rare genetic variants mediating this risk. A major goal of genomic studies is to yield insights into the etiology of OCD and identify molecular targets for the development of novel therapeutics. However, the overwhelming majority of subjects in existing genetic studies are of European ancestry, limiting the generalizability of these findings. To address …


Proximal And Distal Factors Associated With Obesity In Childhood: An Exploratory Structural Equation Model., Joseph A. Skelton, Erinn T. Rhodes, Sarah Hampl, Ihuoma Eneli, Edward H. Ip, Sit Study Research Group Apr 2026

Proximal And Distal Factors Associated With Obesity In Childhood: An Exploratory Structural Equation Model., Joseph A. Skelton, Erinn T. Rhodes, Sarah Hampl, Ihuoma Eneli, Edward H. Ip, Sit Study Research Group

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Obesity in childhood is complex; structural equation modeling (SEM) offers an approach to ascertain complicated relationships between weight and proximal (health behaviors, child health) and distal (family/household, community) variables. The objective of the study was to use SEM to map the influence of different etiological clusters on obesity in childhood.

METHODS: Secondary analysis of baseline data from patients and parents enrolled in a multi-site study of pediatric weight management was conducted. The primary outcome was weight status (utilizing percentage above the 95th percentile BMI, %95BMI). SEM was used to evaluate the influences of variables proximal and distal to child …


Exploitive Adolescent Labor And Labor Trafficking: Clinical Perspectives For Adolescent Healthcare Providers., Romina Barral, Michele A. Kelley, Abigail English, Marissa Raymond-Flesch, Tonya Chaffee, Veronica Svetaz, Tamera Coyne-Beasley, Nuray Kanbur Apr 2026

Exploitive Adolescent Labor And Labor Trafficking: Clinical Perspectives For Adolescent Healthcare Providers., Romina Barral, Michele A. Kelley, Abigail English, Marissa Raymond-Flesch, Tonya Chaffee, Veronica Svetaz, Tamera Coyne-Beasley, Nuray Kanbur

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.


Superior Mediastinal Cut-Off Measurements In Chest Radiographs For Screening Of Silent Thoracic Aortic Diseases, Kantheera Leesmidt, Boonyarit Sintuvikaiwong, Apichaya Sripariwuth Mar 2026

Superior Mediastinal Cut-Off Measurements In Chest Radiographs For Screening Of Silent Thoracic Aortic Diseases, Kantheera Leesmidt, Boonyarit Sintuvikaiwong, Apichaya Sripariwuth

Chulalongkorn Medical Journal

Objective: To determine cut-off values for superior mediastinal width and the mediastinal width-to-thoracic cage ratio from chest radiographs for the early detection of unrecognized thoracic aortic diseases. Additionally, this study aims to enhance diagnostic strategies for identifying aortic abnormalities.

Materials and Methods: This retrospective analysis included 152 subjects who underwent both computed tomography angiography (CTA) of the thoracic aorta and chest radiograph between April 2007 and January 2021. Superior mediastinal width was measured at 3 levels on chest radiographs. Thoracic CTA findings were categorized into normal and abnormal groups, the latter comprising aortic dissection, intramural hematoma, penetrating atherosclerotic …


Incidence Of Carpal Tunnel Syndrome After The Diagnosis Of Ulnar Neuropathy, Harrison S. Fellheimer, Eric Didomenico, Mahaa Ayub, Magnolia Livingston, William L. Justice, Gabriel I. Onor, Eric Tecce, Pedro K. Beredjiklian Mar 2026

Incidence Of Carpal Tunnel Syndrome After The Diagnosis Of Ulnar Neuropathy, Harrison S. Fellheimer, Eric Didomenico, Mahaa Ayub, Magnolia Livingston, William L. Justice, Gabriel I. Onor, Eric Tecce, Pedro K. Beredjiklian

Department of Orthopaedic Surgery Faculty Papers

PURPOSE: The purpose of this study is to determine whether patients diagnosed with ulnar nerve lesions (UNLs) have an increased risk of developing carpal tunnel syndrome (CTS).

METHODS: A retrospective cohort study was conducted using the TriNetX database, which contains data of >100 million patients. We identified 360,021 patients with UNLs and matched them 1:1 with controls. The incidence of CTS was assessed at 1, 2, 3, 4, and 5 years following the diagnosis of UNL. Statistical analyses were used to evaluate the development of CTS in the UNL cohort compared with controls.

RESULTS:  Patients with UNL demonstrated a significantly …


(Giga)Time For The Era Of Ai: Virtual Multiplex Immunofluorescence From Routine H&E For Large Populations, Shao-Ping Yang, Dihua Yu Mar 2026

(Giga)Time For The Era Of Ai: Virtual Multiplex Immunofluorescence From Routine H&E For Large Populations, Shao-Ping Yang, Dihua Yu

Faculty, Staff and Student Publications

No abstract provided.


Breast Cancer-Derived Extracellular Vesicle Mir-425-5p (Mir-425) Promotes Brain Metastasis Via Activating Astrocytes Through The Novel Mir-425-Znf24-Ccl8 Signaling Axis, Grace L Wong, Munazza S Khan, Sara Manore, Shivani Bindal, Ravi Singh, Hui-Wen Lo Mar 2026

Breast Cancer-Derived Extracellular Vesicle Mir-425-5p (Mir-425) Promotes Brain Metastasis Via Activating Astrocytes Through The Novel Mir-425-Znf24-Ccl8 Signaling Axis, Grace L Wong, Munazza S Khan, Sara Manore, Shivani Bindal, Ravi Singh, Hui-Wen Lo

Faculty, Staff and Student Publications

Mechanisms underlying breast cancer brain metastasis (BCBM) are still not well understood. Here, we identified that BCBM patient serum contained extracellular vesicles (EVs) with high levels of microRNAs (miRNAs)-107 and -425. Levels of miR-107 and miR-425 were elevated in brain metastases, and the elevation was associated with poor patient prognoses. Ectopic expression of miR-107 and miR-425 promoted mammospheres; however, the inhibition of miR-425, but not miR-107, suppressed breast cancer mammosphere formation. We further observed that EVs from miR-425-overexpressing breast cancer cells strongly activated astrocytes whereas their inhibitors abrogated the effect. Conditioned media from miR-425-activated astrocytes promoted mammospheres. To elucidate how …


Free Versus In Situ Right Internal Mammary Artery As A Conduit In Coronary Artery Bypass Surgery: A Meta-Analysis, Yuta Kikuchi, Tomoki Sakata, Tomonari Shimoda, Shinichi Fukuhara, Junichi Shimamura, Makoto Hibino, Tsuyoshi Kaneko, Hiroo Takayama, Hisato Takagi, Michel Pompeu Sa, Toshiki Kuno Mar 2026

Free Versus In Situ Right Internal Mammary Artery As A Conduit In Coronary Artery Bypass Surgery: A Meta-Analysis, Yuta Kikuchi, Tomoki Sakata, Tomonari Shimoda, Shinichi Fukuhara, Junichi Shimamura, Makoto Hibino, Tsuyoshi Kaneko, Hiroo Takayama, Hisato Takagi, Michel Pompeu Sa, Toshiki Kuno

Department of Medicine Faculty Papers

OBJECTIVES: There is debate regarding the optimal choice for a second conduit in coronary artery bypass grafting. The right internal mammary artery (RIMA) is commonly employed as a second conduit; however, it is unclear whether the free (fRIMA) or in situ (isRIMA) configuration yields superior outcomes. We performed a systematic review and meta-analysis to compare clinical outcomes between fRIMA and isRIMA as the second conduit.

METHODS: A comprehensive search of PubMed (MEDLINE), EMBASE, and CENTRAL was performed through May 2025 to identify studies comparing outcomes in patients undergoing coronary artery bypass grafting with either fRIMA or isRIMA as a second …


The Effects Of Ultra-Processed Food Consumption On Cancer Development, Bailey G. Ottmann Mar 2026

The Effects Of Ultra-Processed Food Consumption On Cancer Development, Bailey G. Ottmann

Emerging Writers

The dramatic rise in ultra-processed food (UPF) consumption worldwide has sparked growing concerns about its impact on cancer development and human health. UPFs contain high levels of added sugars, unhealthy fats, chemical additives, dyes, and toxic compounds formed during cooking and processing. This study investigates the relationship between UPF consumption and cancer through a review of primary and secondary sources, alongside an observational survey conducted among 15 healthcare professionals, including physicians, nurses, and nursing educators. Survey findings indicate that 53% of participants observed higher cancer prevalence in patients consuming large amounts of UPFs, with colorectal cancer most frequently reported. The …


Artificial Intelligence-Enhanced Cardiac Point-Of-Care Ultrasound: A Prospective Single-Arm Study, Lior Fisher, Michael Fiman, Yuval Yarkoni, Ella Segal, Boris Fishman, Kobi Faierstein, Noa Rubin, Adiel Am-Shalom, Howard Amital, Qiong Zhao, Smadar Kort, Praveen Mehrotra, Ehud Schwammenthal, Robert Klempfner, Eyal Zimlichman, Ehud Raanani, Elad Maor Mar 2026

Artificial Intelligence-Enhanced Cardiac Point-Of-Care Ultrasound: A Prospective Single-Arm Study, Lior Fisher, Michael Fiman, Yuval Yarkoni, Ella Segal, Boris Fishman, Kobi Faierstein, Noa Rubin, Adiel Am-Shalom, Howard Amital, Qiong Zhao, Smadar Kort, Praveen Mehrotra, Ehud Schwammenthal, Robert Klempfner, Eyal Zimlichman, Ehud Raanani, Elad Maor

Division of Cardiology Faculty Papers

OBJECTIVE: To evaluate the clinical utility of combining artificial intelligence (AI) with handheld focused cardiac ultrasound (FoCUS) performed by noncardiologist physicians in clinical care settings.

PATIENTS AND METHODS: In this prospective, single-arm study conducted from July 1, 2022, through December 31, 2023 (ClinicalTrials.gov NCT05455541), 660 adult patients presenting to the emergency department or internal medicine wards were assessed with handheld ultrasound devices enhanced by AI algorithms. These algorithms provided automated analysis of ventricular function, valvular disease, pericardial effusion, and inferior vena cava size. Participating physicians received focused training and performed examinations either in response to clinical suspicion or as part …


Deep Brain Stimulation For Psychiatric Disorders: A Systematic Review Of Molecular Imaging With Pet, Shiv Patil, Alexander Gerlach, Fnu Jeevika, Raj Patel, Emily Christner, Jaskeerat Gujral, Om H. Gandhi, Milo Writer, Nicholas M. Wang, Anastasia Kopylova, Satoria A. Zagorski, Cyrus Ayubcha, Thomas Werner, Abass Alavi, Mona-Elisabeth Revheim Mar 2026

Deep Brain Stimulation For Psychiatric Disorders: A Systematic Review Of Molecular Imaging With Pet, Shiv Patil, Alexander Gerlach, Fnu Jeevika, Raj Patel, Emily Christner, Jaskeerat Gujral, Om H. Gandhi, Milo Writer, Nicholas M. Wang, Anastasia Kopylova, Satoria A. Zagorski, Cyrus Ayubcha, Thomas Werner, Abass Alavi, Mona-Elisabeth Revheim

Student Papers, Posters & Projects

BACKGROUND: Deep brain stimulation (DBS) is an evolving technique for the treatment of various psychiatric disorders refractory to conventional pharmacotherapy. Neuroimaging with positron emission tomography (PET) has an important role in the planning, delivery, and post-surgical monitoring of DBS. This study aims to determine the clinical relevance of PET as a biomarker of disease status and response to DBS for patients with psychiatric disorders.

METHODS: We performed a systematic review of the PubMed, Web of Science, and Scopus databases to identify original research studies that applied PET to study the effects of DBS for patients with psychiatric conditions (major depressive …


Ribosomal Stress In The Pathogenesis And Treatment Of T-Cell Acute Lymphoblastic Leukemia, Kimberly Bridget Johansson Mar 2026

Ribosomal Stress In The Pathogenesis And Treatment Of T-Cell Acute Lymphoblastic Leukemia, Kimberly Bridget Johansson

Arts & Sciences Graduate Student Theses and Dissertations

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy in which activating mutations in the Notch pathway are thought to contribute to transformation, in part, through activation of c-Myc. Increased expression of c-Myc induces oncogenic stress that can lead to apoptosis through the Mdm2-p53 tumor suppressor pathway. Since the great majority of T-ALL cases maintain wildtype MDM2 and TP53, we hypothesized that T-ALL cells are selectively sensitive to MDM2 inhibition. Treatment with idasanutlin, an MDM2 inhibitor, although only inducing modest apoptosis in T-ALL cells, resulted in a significant upregulation of pro-apoptotic BH3 domain genes BAX and BBC3. This prompted …


Gene-Agnostic Therapeutic Strategies For Inherited Retinal Diseases: Neuroprotection And Immunomodulation, Lucas W. Rowe, S. Patricia Becerra, Robert E. Maclaren, Robert L. Avery, Charles C. Wykoff, Allen C. Ho, Carl D. Regillo, Dean Eliott, Andrew Osborne, Katie M. Binley, Thomas A. Ciulla Mar 2026

Gene-Agnostic Therapeutic Strategies For Inherited Retinal Diseases: Neuroprotection And Immunomodulation, Lucas W. Rowe, S. Patricia Becerra, Robert E. Maclaren, Robert L. Avery, Charles C. Wykoff, Allen C. Ho, Carl D. Regillo, Dean Eliott, Andrew Osborne, Katie M. Binley, Thomas A. Ciulla

Wills Eye Hospital Papers

Background/Objectives: Inherited retinal diseases (IRDs) represent a genetically heterogeneous group of disorders caused by mutations in over 280 genes with more than 3100 identified variants. While gene-specific replacement therapies have achieved landmark success with voretigene neparvovec (Luxturna) for biallelic RPE65-associated retinal dystrophy, developing individual therapies for each genetic subtype remains impractical. This review examines gene-agnostic therapeutic approaches utilizing neuroprotection and immunomodulation that target common pathophysiological mechanisms shared across multiple IRD genotypes. Methods: We reviewed the literature on neuroprotective and immunomodulatory gene therapy strategies for IRDs, focusing on neurotrophic factors and complement system modulation. Results: Neuroprotective approaches delivering neurotrophic factors—including pigment …


Pre-Operative Antiplatelet Therapy Is Associated With Increased Risk Of Periprosthetic Joint Infection Following Total Shoulder Arthroplasty, Muhammad Hamza Ilyas, Mohammad Daher, Viraj Deshpande, Adam Lindsay, Joseph A. Abboud, Hafiz F. Kassam Mar 2026

Pre-Operative Antiplatelet Therapy Is Associated With Increased Risk Of Periprosthetic Joint Infection Following Total Shoulder Arthroplasty, Muhammad Hamza Ilyas, Mohammad Daher, Viraj Deshpande, Adam Lindsay, Joseph A. Abboud, Hafiz F. Kassam

Rothman Institute Papers

Background Antiplatelet therapy is widely prescribed for the prevention and management of cardiovascular disease and for mitigation of thromboembolic risk. However, its impact on post-operative periprosthetic joint infection (PJI) following total shoulder arthroplasty (TSA) remains poorly defined.MethodsA retrospective cohort study was conducted using the TriNetX US Research Network. Propensity score matching was performed to balance demographics, body mass index, and Charlson Comorbidity Index variables. The primary outcome was the incidence of PJI at 90 days, 6 months, and 1 year. Secondary outcomes included post-operative medical and surgical complications. Comparative risk was quantified using risk ratios with 95% confidence intervals. Subgroup …