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Retrospective Studies

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Full-Text Articles in Medicine and Health Sciences

Peritoneal Dialysis Catheter Complications In Neonates With Kidney Failure., Shannon Reinert, Maanasa Yarlagadda, Alexander Bondoc, Donna Claes, Stefanie Riddle, Meredith P. Schuh Oct 2026

Peritoneal Dialysis Catheter Complications In Neonates With Kidney Failure., Shannon Reinert, Maanasa Yarlagadda, Alexander Bondoc, Donna Claes, Stefanie Riddle, Meredith P. Schuh

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Neonates with kidney failure require placement of a peritoneal dialysis catheter (PD-C) shortly after birth. PD-C malfunction and peritonitis, both common in this population, are associated with PD failure. The aim of this study was to describe our center's PD-C-related practices and outcomes in neonates with kidney failure.

METHODS: We performed a retrospective chart review of neonates who required kidney replacement therapy (KRT) within the first 30 days of life from 01/2018-12/2023. We evaluated for PD-C duration, PD-C replacement or revision, and peritonitis.

RESULTS: Twenty-four neonates had PD-C placed for chronic dialysis at a median of 9.7 days and …


Cerebellar Atrophy In Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study, Rebecca Macrae, Kierstin Hederstedt, Christopher Cortina, Kumaran Deiva, Andrea Klein, Ming Lim, Thomas Rossor, Elizabeth A Sokol, Yasmin Khakoo, Nikita Malani Shukla, Timothy E Lotze, Wendy G Mitchell, Sarah Hopkins, Bo Zhang, Mark P Gorman Sep 2026

Cerebellar Atrophy In Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study, Rebecca Macrae, Kierstin Hederstedt, Christopher Cortina, Kumaran Deiva, Andrea Klein, Ming Lim, Thomas Rossor, Elizabeth A Sokol, Yasmin Khakoo, Nikita Malani Shukla, Timothy E Lotze, Wendy G Mitchell, Sarah Hopkins, Bo Zhang, Mark P Gorman

Faculty, Staff and Students Publications

Background and objectives: Pediatric-onset opsoclonus-myoclonus-ataxia syndrome (POOMAS) is a rare, neuroinflammatory syndrome that targets the cerebellum and can cause irreversible cerebellar structural changes, namely cerebellar atrophy. We investigated the frequency of cerebellar atrophy, as well as associated risk factors and functional outcome measures, using the largest active POOMAS registry.

Methods: This was a retrospective observational study of participants with POOMAS with disease onset from 1995 to 2025 using data from the multinational, multicenter POOMAS registry. Variables were compared between the cerebellar atrophy subgroups using the Fisher exact test or Wilcoxon rank-sum test.

Results: Of participants with follow-up imaging, cerebellar atrophy …


Prediction Model For Children With Anaphylaxis Who May Not Require Emergency Department Care: A Multicenter Retrospective Cohort Study., Timothy E. Dribin, David Schnadower, Hugh A. Sampson, Yin Zhang, Nanhua Zhang, Stephen B. Freedman, Mark I. Neuman, David C. Brousseau, Rakesh D. Mistry, Stephanie Boyd, Yonatan Wolnerman, Patrick S. Walsh, Craig Vander Wyst, Vandana Thapar, Jonathan Strutt, Geetanjali Srivastava, Nidhi V. Singh, Christopher J. Russo, Christian D. Pulcini, Thuy L. Ngo, Jo-Ann O. Nesiama, Matthew M. Moake, Ashley M. Metcalf, Tamar R. Lubell, Juhee Lee, Chari D. Larsen, Karen Y. Kwan, Curtis L. Knoles, Kajal Khanna, Julia F. Freeman, Justin R. Davis, Alicia Daggett, Joanna S. Cohen, Ari R. Cohen, Wee-Jhong Chua, Sri S. Chinta, Brittany Boswell, Kelly R. Bergmann, Paul L. Aronson, Kenneth A. Michelson Sep 2026

Prediction Model For Children With Anaphylaxis Who May Not Require Emergency Department Care: A Multicenter Retrospective Cohort Study., Timothy E. Dribin, David Schnadower, Hugh A. Sampson, Yin Zhang, Nanhua Zhang, Stephen B. Freedman, Mark I. Neuman, David C. Brousseau, Rakesh D. Mistry, Stephanie Boyd, Yonatan Wolnerman, Patrick S. Walsh, Craig Vander Wyst, Vandana Thapar, Jonathan Strutt, Geetanjali Srivastava, Nidhi V. Singh, Christopher J. Russo, Christian D. Pulcini, Thuy L. Ngo, Jo-Ann O. Nesiama, Matthew M. Moake, Ashley M. Metcalf, Tamar R. Lubell, Juhee Lee, Chari D. Larsen, Karen Y. Kwan, Curtis L. Knoles, Kajal Khanna, Julia F. Freeman, Justin R. Davis, Alicia Daggett, Joanna S. Cohen, Ari R. Cohen, Wee-Jhong Chua, Sri S. Chinta, Brittany Boswell, Kelly R. Bergmann, Paul L. Aronson, Kenneth A. Michelson

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The 2023 US Anaphylaxis Practice Parameter indicated that some patients receiving epinephrine in the community might avoid emergency department (ED) visits; however, the criteria and safety of this approach remain unproven.

OBJECTIVE: To derive and validate a clinical prediction model for identifying children at risk of receiving epinephrine after arriving at the ED.

METHODS: We conducted a 31-center retrospective cohort study of children aged 6 months to less than 18 years who received 1 prehospital dose of epinephrine for allergic reactions between 2016 and 2019. The outcome was receipt of epinephrine after ED arrival. We used least absolute shrinkage …


Posaconazole Target Attainment In Critically Ill Children: A 15-Year Single-Center Retrospective Analysis., Kathryn Pavia, Addison M. Pritchett Ms, Jennifer Goldman Sep 2026

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 …


Opioid Dispensing Volume And Per-Patient Intensity In Sickle Cell Disease, Kevin Y Xu, Brandon K Attell, Joanna L Buss, Tashalee R Brown, Charles R Jonassaint, Richard A Grucza, Allison A King, Max Jordan Nguemeni Tiako Sep 2026

Opioid Dispensing Volume And Per-Patient Intensity In Sickle Cell Disease, Kevin Y Xu, Brandon K Attell, Joanna L Buss, Tashalee R Brown, Charles R Jonassaint, Richard A Grucza, Allison A King, Max Jordan Nguemeni Tiako

2020-Current year OA Pubs

IMPORTANCE: Opioids remain central to management of acute and chronic pain in sickle cell disease (SCD). Opioid dispensing declined over the 2010s amid opioid stewardship efforts, but patterns since 2020 are less clear. Analyses aggregating opioids into morphine milligram equivalents (MME) may obscure agent-specific patterns.

OBJECTIVE: To characterize opioid dispensing volume and per-recipient frequency, duration, and dose among individuals with SCD.

DESIGN, SETTING, AND PARTICIPANTS: A retrospective cohort study of commercially insured and Medicaid-enrolled patients with SCD using the Merative MarketScan databases across 3 periods from January 2011 to February 2016, March 2016 to December 2020, and January 2021 to …


Variation In Meningioma Recurrence Risk Estimates Across Observational Cohorts: The Influence Of Calendar Time, Who Classifications, Geographical Settings, And Healthcare Systems, Christian Mirian, Lasse Rehné Jensen, Adam Gorm Hoffmann, Tareq A Juratli, Anders Broechner, Sverre H Torp, Helen A Shih, Ramin A Morshed, Jacob S Young, Stephen T Magill, Luca Bertero, Walter Stummer, Dorothee Cäcilia Spille, Benjamin Brokinkel, Soichi Oya, Satoru Miyawaki, Nobuhito Saito, Martin Proescholdt, Yasuhiro Kuroi, Konstantinos Gousias, Matthias Simon, Jennifer Moliterno, Ricardo Prat-Acin, Stéphane Goutagny, Vikram C Prabhu, John T Tsiang, Johannes Wach, Erdem Güresir, Junkoh Yamamoto, Young Zoon Kim, Joo Ho Lee, Daniel W Kim, Matthew Koshy, Karthikeyan Perumal, Mustafa K Baskaya, Donald M Cannon, Dennis C Shrieve, Chang-Ok Suh, Jong Hee Chang, Maria Kamenova, Sven Straumann, Jehuda Soleman, Ilker Y Eyüpoglu, Tony Catalan, Austin Lui, Philip V Theodosopoulos, Michael W Mcdermott, Fang Wang, Pedro Góes, Manoel Antonio De Paiva Neto, Ricardo Komotar, Michael E Ivan, Aria Jamshidi, Evan Luther, Luis Souhami, Marie-Christine Guiot, Tamás Csonka, Toshiki Endo, Olivia Claire Barrett, Randy Jensen, Tejpal Gupta, Akash J Patel, Tiemo J Klisch, Jun Won Kim, Francesco Maiuri, Valeria Barresi, María Dolores Tabernero, Simon Skyrman, Ian Law, Bjarne Winther Kristensen, Tina Nørgaard Munch, Torstein Meling, Kåre Fugleholm, Paul Blanche, Tiit Mathiesen, Andrea Daniela Maier Aug 2026

Variation In Meningioma Recurrence Risk Estimates Across Observational Cohorts: The Influence Of Calendar Time, Who Classifications, Geographical Settings, And Healthcare Systems, Christian Mirian, Lasse Rehné Jensen, Adam Gorm Hoffmann, Tareq A Juratli, Anders Broechner, Sverre H Torp, Helen A Shih, Ramin A Morshed, Jacob S Young, Stephen T Magill, Luca Bertero, Walter Stummer, Dorothee Cäcilia Spille, Benjamin Brokinkel, Soichi Oya, Satoru Miyawaki, Nobuhito Saito, Martin Proescholdt, Yasuhiro Kuroi, Konstantinos Gousias, Matthias Simon, Jennifer Moliterno, Ricardo Prat-Acin, Stéphane Goutagny, Vikram C Prabhu, John T Tsiang, Johannes Wach, Erdem Güresir, Junkoh Yamamoto, Young Zoon Kim, Joo Ho Lee, Daniel W Kim, Matthew Koshy, Karthikeyan Perumal, Mustafa K Baskaya, Donald M Cannon, Dennis C Shrieve, Chang-Ok Suh, Jong Hee Chang, Maria Kamenova, Sven Straumann, Jehuda Soleman, Ilker Y Eyüpoglu, Tony Catalan, Austin Lui, Philip V Theodosopoulos, Michael W Mcdermott, Fang Wang, Pedro Góes, Manoel Antonio De Paiva Neto, Ricardo Komotar, Michael E Ivan, Aria Jamshidi, Evan Luther, Luis Souhami, Marie-Christine Guiot, Tamás Csonka, Toshiki Endo, Olivia Claire Barrett, Randy Jensen, Tejpal Gupta, Akash J Patel, Tiemo J Klisch, Jun Won Kim, Francesco Maiuri, Valeria Barresi, María Dolores Tabernero, Simon Skyrman, Ian Law, Bjarne Winther Kristensen, Tina Nørgaard Munch, Torstein Meling, Kåre Fugleholm, Paul Blanche, Tiit Mathiesen, Andrea Daniela Maier

Duncan NRI Faculty and Staff Publications

Purpose: Recurrence risk estimates underpin meningioma research, including molecular classification and clinical trial benchmarking, yet are often based on retrospective or historical data. The aim of this study was to assess the variation of recurrence risk estimates across calendar periods, WHO classification editions, geographical settings, and healthcare systems.thetermine METHODS: We analyzed 4,111 patients with primary WHO-1/-2 meningiomas from 31 centers in 15 countries (1990-2019). Recurrence was defined according to local radiological assessment. The 5- and 10-year recurrence risks were estimated using regression standardization with inverse probability of censoring weights, adjusting for key clinical, surgical, and histopathological variables.

Results: Recurrence risk …


Valvular Heart Failure Is A Distinct Heart Transplant Phenotype With Comparable Adjusted Survival To Other Heart Failure Etiologies, Devon Kelley, Varun Kathawate, Joyce Ho, Andrew Belec, Takahiro Tashima, Kazuhiro Ueno, Jessica Dominic, Pavan Atluri Aug 2026

Valvular Heart Failure Is A Distinct Heart Transplant Phenotype With Comparable Adjusted Survival To Other Heart Failure Etiologies, Devon Kelley, Varun Kathawate, Joyce Ho, Andrew Belec, Takahiro Tashima, Kazuhiro Ueno, Jessica Dominic, Pavan Atluri

Division of Cardiology Faculty Papers

PURPOSE: Valvular heart failure (VHF) accounts for 1-5% of heart transplant listings. Comparative outcomes relative to other heart failure etiologies remain poorly characterized. This study defines the VHF phenotype and compares waitlist and transplant outcomes to other heart failure recipients.

METHODS: This retrospective cohort study uses the UNOS thoracic transplant database to analyze adult, first-time, heart-only listings with a diagnosis of heart disease. Patients were grouped by diagnosis as VHF or non-VHF. The primary outcome was waitlist events; post-transplant survival and outcomes were secondary analyses. Subgroup analysis was performed in the post-2018 allocation era.

RESULTS: VHF recipients were older (55.3 …


Predictors Of Adalimumab Durability In Hidradenitis Suppurativa: A Multicenter Cohort Study, Albert T. Young, Arashleen Pannu, Alexander Velaoras, Roland Leyson, Rayad B. Shams, Alexandra Turfe, Andrea Dai, Mohsen Mokhtari, Sarah Bassett, Joshua Vazhappilly, Richard W. Hass, Iltefat Hamzavi, Christopher J. Sayed, Qing-Sheng Mi, Sherry Yang Aug 2026

Predictors Of Adalimumab Durability In Hidradenitis Suppurativa: A Multicenter Cohort Study, Albert T. Young, Arashleen Pannu, Alexander Velaoras, Roland Leyson, Rayad B. Shams, Alexandra Turfe, Andrea Dai, Mohsen Mokhtari, Sarah Bassett, Joshua Vazhappilly, Richard W. Hass, Iltefat Hamzavi, Christopher J. Sayed, Qing-Sheng Mi, Sherry Yang

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Adalimumab is widely used for hidradenitis suppurativa (HS), but treatment durability varies and predictors of sustained benefit remain uncertain.

OBJECTIVE: To identify clinical and laboratory factors associated with adalimumab treatment durability in HS.

METHODS: We retrospectively studied 135 adults with HS who initiated adalimumab as first biologic therapy across three academic centers from 2013 to 2023. Outcomes were categorized as primary failure (12-24 weeks), secondary failure (24 weeks-2 years), or sustained response (>2 years) based on discontinuation for inefficacy. Predictors of treatment durability were evaluated using ordinal logistic regression.

RESULTS: In univariable analyses, Hurley stage 3, higher body …


Race And Ethnicity And Overall Survival In Pediatric Acute Myeloid Leukemia, Daniel J. Zheng, Long Khuong, Catherine Aftandilian, Kira Bona, Emi H. Caywood, Caitlin W. Elgarten, Brian T. Fisher, Cody-Aaron L. Gathers, Taumoha Ghosh, M. Monica Gramatges, Gary Hettinger, Meret R. Henry, Yuan-Shung V Huang, Yimei Li, Kelly Maloney, Amir Mian, Tamara P Miller, Arunkumar Modi, Rajen Mody, Regina M. Myers, Haley Newman, Jose Ortiz, Alix E. Seif, Caroline Smith, Jamie Stokke, Naomi Winick, Jennifer J. Wilkes, Victor Wong, Richard Aplenc, Kelly D. Getz Aug 2026

Race And Ethnicity And Overall Survival In Pediatric Acute Myeloid Leukemia, Daniel J. Zheng, Long Khuong, Catherine Aftandilian, Kira Bona, Emi H. Caywood, Caitlin W. Elgarten, Brian T. Fisher, Cody-Aaron L. Gathers, Taumoha Ghosh, M. Monica Gramatges, Gary Hettinger, Meret R. Henry, Yuan-Shung V Huang, Yimei Li, Kelly Maloney, Amir Mian, Tamara P Miller, Arunkumar Modi, Rajen Mody, Regina M. Myers, Haley Newman, Jose Ortiz, Alix E. Seif, Caroline Smith, Jamie Stokke, Naomi Winick, Jennifer J. Wilkes, Victor Wong, Richard Aplenc, Kelly D. Getz

Department of Pediatrics Faculty Papers

IMPORTANCE: Hispanic and non-Hispanic Black (hereafter, Black) children with acute myeloid leukemia (AML) have historically experienced worse survival outcomes compared with non-Hispanic White (hereafter, White) children. Understanding specific intermediate pathways underlying these outcome disparities is a critical step to directing interventional efforts and resources.

OBJECTIVE: To compare survival outcomes by race and ethnicity in a large contemporary cohort of pediatric patients with AML and to examine presentation acuity, frontline organ toxic effects, and relapse as potential mediators of any observed outcome disparities.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study was analyzed from April 2025 to January 2026 and included …


Young-Onset Stroke In The Uae: A Single-Centre Retrospective Analysis Of Risk Factors And Outcomes, Sobia Siddiq, Saryia Adra, Kamel A. Samara, Batool Aldaher, Mohamad Emad Aldeen Mahfouz, Nour Sakan, Fathima Musfira, Roomiyah Riyaz Assadi, Ahlam Mohamed Almarzooqi, Hiba Jawdat Barqawi, Eman Abu-Gharbieh Aug 2026

Young-Onset Stroke In The Uae: A Single-Centre Retrospective Analysis Of Risk Factors And Outcomes, Sobia Siddiq, Saryia Adra, Kamel A. Samara, Batool Aldaher, Mohamad Emad Aldeen Mahfouz, Nour Sakan, Fathima Musfira, Roomiyah Riyaz Assadi, Ahlam Mohamed Almarzooqi, Hiba Jawdat Barqawi, Eman Abu-Gharbieh

Abington Jefferson Health Papers

BACKGROUND: Young-onset stroke represents a growing public health concern, yet data from the United Arab Emirates (UAE) remain limited. This study aimed to examine the risk factors and clinical outcomes associated with young-onset stroke in the UAE.

METHODS: A retrospective chart review was conducted on 419 patients aged below 50 years who were admitted at Al Qassimi Hospital, Sharjah, UAE, with a diagnosis of stroke between 2016 and 2022. Data on demographics, comorbidities, stroke subtype, management, and outcomes were collected and analyzed using Python-based statistical libraries.

RESULTS: The study population comprised predominantly of male individuals (78.28%), with most patients originating …


Indications, Techniques, And Safety Of Cryotherapy And Cryobiopsy Via Flexible Bronchoscopy In Pediatric Patients, Alex J Katz, Haley Haskett, Kubra M Bozkanat, Aoife Corcoran, Lauren M C Grant, Antoinette Wannes Daou, Sin Tran, Esra Caylan, Alfin Vicencio, Dan T Benscoter, Cherie A Torres-Silva, Sara M Zak, Gregory Burg, Lisa R Young, Pelton Phinizy, Shailendra Das, Richard Paul Boesch, Erik B Hysinger, Joseph Piccione Aug 2026

Indications, Techniques, And Safety Of Cryotherapy And Cryobiopsy Via Flexible Bronchoscopy In Pediatric Patients, Alex J Katz, Haley Haskett, Kubra M Bozkanat, Aoife Corcoran, Lauren M C Grant, Antoinette Wannes Daou, Sin Tran, Esra Caylan, Alfin Vicencio, Dan T Benscoter, Cherie A Torres-Silva, Sara M Zak, Gregory Burg, Lisa R Young, Pelton Phinizy, Shailendra Das, Richard Paul Boesch, Erik B Hysinger, Joseph Piccione

Faculty, Staff and Students Publications

Rationale: Cryotherapy and its diagnostic analogue, cryobiopsy, are emerging techniques via bronchoscopy with a wide range of clinical applications. While the use of cryotherapy and cryobiopsy has been established in adult pulmonary medicine, pediatric data describing the indications, procedural specifics, outcomes, and complications are limited.

Objective: To describe the indications, procedural specifics, outcomes, and complications of cryotherapy and cryobiopsy use in pediatric bronchoscopy.

Methods: A multicenter retrospective observational study was conducted at 5 pediatric hospitals in the United States. Patients aged 0 to 21 years who underwent cryotherapy or cryobiopsy via bronchoscopy between January 2017 and January 2025 were included. …


Clinical Machine Learning Model For Predicting Pathological Complete Response In Patients With Esophageal And Gastroesophageal Junction Adenocarcinoma After Trimodality Therapy, Kohei Yamashita, Evan Kwiatkowski, Matheus Sewastjanow-Silva, Jane E Rogers, Katsuhiro Yoshimura, Melissa Pool Pizzi, Qiong Gan, Jenny J Li, Rebecca E Waters, Mariela Blum Murphy, Masaaki Iwatsuki, Wayne L Hofstetter, Aileen Chen, Ying Yuan, Jaffer A Ajani Aug 2026

Clinical Machine Learning Model For Predicting Pathological Complete Response In Patients With Esophageal And Gastroesophageal Junction Adenocarcinoma After Trimodality Therapy, Kohei Yamashita, Evan Kwiatkowski, Matheus Sewastjanow-Silva, Jane E Rogers, Katsuhiro Yoshimura, Melissa Pool Pizzi, Qiong Gan, Jenny J Li, Rebecca E Waters, Mariela Blum Murphy, Masaaki Iwatsuki, Wayne L Hofstetter, Aileen Chen, Ying Yuan, Jaffer A Ajani

Faculty, Staff and Student Publications

Background: Accurate prediction of pathological complete response (pCR) after preoperative chemoradiation therapy, followed by surgery (trimodality therapy) in esophageal adenocarcinoma (EAC) and gastroesophageal junction adenocarcinoma (GEJAC) may improve clinical decision-making and patient counseling before esophagectomy. This study aimed to develop predictive models for pCR after trimodality using machine learning (ML) approaches.

Patients and methods: A total of 569 patients with EAC and GEJAC who received trimodality therapy at MD Anderson Cancer Center between 2002 and 2022 were included. Clinicopathological characteristics and survival benefit of patients who achieved a pCR were reviewed via descriptive and survival analyses. Subsequently, ML models based …


Impact Of Trisomy 21 On Post Pull-Through Enterocolitis And Bowel Function In Children With Hirschsprung Disease: A Pcplc Analysis., Marshall W. Wallace, Scott S. Short, Rachel C. Crady, Ron W. Reeder, Hira Ahmad, Kelly Austin, Andrea Badillo, Casey M. Calkins, Megan M. Durham, Julie R. Fuchs, Christopher Gayer, Julia E. Grabowski, Jamie C. Harris, Charles R. Hong, Ankur Rana, Rebecca M. Rentea, Nelson Rosen, Payam Saadai, Caitlin A. Smith, K Elizabeth Speck, Cristine S. Velazco, Richard J. Wood, Michael D. Rollins Aug 2026

Impact Of Trisomy 21 On Post Pull-Through Enterocolitis And Bowel Function In Children With Hirschsprung Disease: A Pcplc Analysis., Marshall W. Wallace, Scott S. Short, Rachel C. Crady, Ron W. Reeder, Hira Ahmad, Kelly Austin, Andrea Badillo, Casey M. Calkins, Megan M. Durham, Julie R. Fuchs, Christopher Gayer, Julia E. Grabowski, Jamie C. Harris, Charles R. Hong, Ankur Rana, Rebecca M. Rentea, Nelson Rosen, Payam Saadai, Caitlin A. Smith, K Elizabeth Speck, Cristine S. Velazco, Richard J. Wood, Michael D. Rollins

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: We evaluated whether Trisomy 21 (T21) affected bowel management use, ability to toilet train for stool, and rates of Hirschsprung-Associated Enterocolitis (HAEC) in children with Hirschsprung disease (HD). We hypothesized that T21 would be associated with increased rates of HAEC, bowel management program (BMP) use, and delayed toilet training for stool.

METHODS: Children with HD in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) database who underwent primary pull-through were included and stratified by T21 status: HD only versus HD + T21. Children requiring a redo pull-through, initially managed with a stoma, or those who had inadequate follow-up were …


All-Cause And Cause-Specific Mortality In Gambling Disorder: Evidence From A Nation-Wide Matched And Sibling Cohort Study In Taiwan, Yang-Chieh Brian Chen, Chih-Wei Hsu, Liang-Jen Wang, Mu-Hong Chen, Yao-Hsu Yang, Chih-Sung Liang, Edward Chia-Cheng Lai Aug 2026

All-Cause And Cause-Specific Mortality In Gambling Disorder: Evidence From A Nation-Wide Matched And Sibling Cohort Study In Taiwan, Yang-Chieh Brian Chen, Chih-Wei Hsu, Liang-Jen Wang, Mu-Hong Chen, Yao-Hsu Yang, Chih-Sung Liang, Edward Chia-Cheng Lai

Children’s Nutrition Research Center Staff Publications

Background and aims: Gambling disorder (GD) has been linked to suicidal ideation and suicide deaths; however, evidence on all-cause and cause-specific mortality-particularly in Asian populations-remains limited. Using a retrospective cohort study based on nationwide matched and sibling cohort, we investigated all-cause and cause-specific mortality risk in patients with GD.

Design, setting and participants: A retrospective cohort study was conducted using 2000-2022 data from Taiwan's National Health Insurance Research Database. A cohort of 961 individuals diagnosed with GD was identified. An age- and sex-matched control cohort (n = 3,844) and an unaffected sibling cohort (n = 675) were constructed. Cumulative survival …


Are We Winning At Twinning? Persistent Cni Use In Identical Kidney Transplants., Nicholas S. Herrera, Shivani Wadnerkar, Diane M. Cibrik Aug 2026

Are We Winning At Twinning? Persistent Cni Use In Identical Kidney Transplants., Nicholas S. Herrera, Shivani Wadnerkar, Diane M. Cibrik

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Calcineurin inhibitors (CNIs) revolutionized kidney transplantation by reducing acute rejection rates. Identical twin kidney transplantation is the only setting in which the allograft is immunologically indistinguishable from self, yet CNI use persists. We characterized CNI utilization across end-stage kidney disease etiologies and examined whether CNI exposure was associated with reduced rejection or improved death-censored graft survival (DCGS).

METHODS: We performed a retrospective cohort study using scientific registry of transplant recipients data (January 2000-August 2025). Among 255 adult identical twin kidney transplant recipients, discharge regimens were categorized by CNI use; Firth penalized Cox regression was the primary method for 10-year …


Intravenous Versus Oral Tranexamic Acid In Shoulder Arthroplasty, Tarishi Parmar, Akin Adio, Mohammad Daher, Adam Khan, John Horneff, Joseph A. Abboud Jul 2026

Intravenous Versus Oral Tranexamic Acid In Shoulder Arthroplasty, Tarishi Parmar, Akin Adio, Mohammad Daher, Adam Khan, John Horneff, Joseph A. Abboud

Rothman Institute Papers

PURPOSE: Tranexamic acid (TXA) is used in shoulder arthroplasty to reduce blood loss. While intravenous (IV) TXA is standard, oral TXA offers advantages in cost and administration. This study compares 90-day complications and postoperative laboratory values between IV and oral TXA in total shoulder arthroplasty (TSA).

METHODS: A retrospective cohort study using TriNetX identified adults undergoing primary TSA (2005-2025) receiving TXA on the day of surgery, stratified by route (IV vs. oral). One-to-one propensity score matching was performed. Ninety-day outcomes included transfusion, thromboembolic events, cardiac and renal complications, neurologic events, infection, wound dehiscence, readmissions, emergency department visits, opioid utilization, and …


Leveraging Health Information Exchange (Hie) Data To Demonstrate The Impact On Health Outcomes Of Community Based Organization Interventions: Case Studies Of Housing Placement And Medically Tailored Meal Program, Kevin Kramer, Harm Scherpbier, William Marella Jul 2026

Leveraging Health Information Exchange (Hie) Data To Demonstrate The Impact On Health Outcomes Of Community Based Organization Interventions: Case Studies Of Housing Placement And Medically Tailored Meal Program, Kevin Kramer, Harm Scherpbier, William Marella

College of Population Health Faculty Papers

Objective

To evaluate the use of longitudinal Health Information Exchange data to assess changes in healthcare utilization and selected clinical outcomes associated with community-based organization interventions addressing housing instability and food insecurity.

Methods

A retrospective pre-post study design was used to analyze two distinct community-based organization cohorts within a regional Health Information Exchange. The housing cohort included 228 individuals who received housing placement services, and the nutrition cohort included 786 individuals enrolled in a medically tailored meal program. Healthcare utilization and clinical outcomes were compared during the 365 days before and after program enrollment. Outcomes included inpatient admissions, emergency department …


Prenatal Predictors Of Fetal And Neonatal Death In Truncus Arteriosus: A Fetal Heart Society Research Collaborative Study., Kelly Cox, Nazia Husain, Deidra Ansah, Tiffany Knight, Alexandra Channing, Bettina Cuneo, Preeta Dhanantwari, Mary Donofrio, Miwa Geiger, Lisa Howley, Lisa K. Hornberger, Simone Javeri, Edward G. Jones, Michelle Kaplinski, Ann Kavanaugh-Mchugh, Maria Kiaffas, Katherine Kosiv, Christina Laternser, Olivia Low, Anita J. Moon-Grady, Shabnam Peyvandi, Nelangi Pinto, Avaliese Porlier, Aaron Prosnitz, Rashmi Rao, David Schidlow, Elena Sinkovskaya, Ranjini Srinivasan, Corey Stiver, Emilio Quezada, Bhawna Arya, Sheetal Patel Jul 2026

Prenatal Predictors Of Fetal And Neonatal Death In Truncus Arteriosus: A Fetal Heart Society Research Collaborative Study., Kelly Cox, Nazia Husain, Deidra Ansah, Tiffany Knight, Alexandra Channing, Bettina Cuneo, Preeta Dhanantwari, Mary Donofrio, Miwa Geiger, Lisa Howley, Lisa K. Hornberger, Simone Javeri, Edward G. Jones, Michelle Kaplinski, Ann Kavanaugh-Mchugh, Maria Kiaffas, Katherine Kosiv, Christina Laternser, Olivia Low, Anita J. Moon-Grady, Shabnam Peyvandi, Nelangi Pinto, Avaliese Porlier, Aaron Prosnitz, Rashmi Rao, David Schidlow, Elena Sinkovskaya, Ranjini Srinivasan, Corey Stiver, Emilio Quezada, Bhawna Arya, Sheetal Patel

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Fetal and neonatal outcomes and factors increasing mortality risk in fetal truncus arteriosus are not well characterized. We aimed to examine the prenatally encountered cardiac spectrum, define extracardiac and genetic associations, explore clinical outcomes and identify prenatal factors associated with worse outcomes in a contemporary large cohort.

METHODS: A multicenter retrospective cohort study was conducted via the Fetal Heart Society Research Collaborative including fetal truncus arteriosus cases encountered between January 1, 2010, and September 1, 2021, within 22 North American cardiac centers. Demographic, clinical, anatomic, and functional fetal echocardiographic variables were analyzed for associations with presurgical death (fetal death/neonatal …


Association Between Trainee Involvement During Pediatric And Congenital Cardiac Catheterization And Procedural Outcomes., Natalie Jayaram, John A. Spertus, Kevin F. Kennedy, Andrew C. Glatz Jul 2026

Association Between Trainee Involvement During Pediatric And Congenital Cardiac Catheterization And Procedural Outcomes., Natalie Jayaram, John A. Spertus, Kevin F. Kennedy, Andrew C. Glatz

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Participation in the cardiac catheterization laboratory is a requirement of cardiology fellowship training. We sought to determine whether trainee presence is associated with outcomes during pediatric and congenital cardiac catheterization.

METHODS: We identified catheterizations between January 2011 and September 2020 within the IMPACT (Improving Pediatric and Adult Congenital Treatment) Registry. Multivariable multilevel regression was used to determine the association between trainee presence and procedural outcomes.

RESULTS: Of 122 760 catheterizations at 107 academic hospitals, a trainee was present in 71 651 (58.4%) cases. Rates of major adverse events were similar between trainee and nontrainee cases (9.0% versus 8.0%). Contrast …


Tranexamic Acid In High-Risk Shoulder Arthroplasty Patients: Safety Across Thromboembolic, Cardiac, Renal, And Neurologic Risk Profiles, Tarishi Parmar, Akin Adio, Asim Handy, Mohammad Daher, Alec Kellish, Adam Khan, Joseph A. Abboud Jul 2026

Tranexamic Acid In High-Risk Shoulder Arthroplasty Patients: Safety Across Thromboembolic, Cardiac, Renal, And Neurologic Risk Profiles, Tarishi Parmar, Akin Adio, Asim Handy, Mohammad Daher, Alec Kellish, Adam Khan, Joseph A. Abboud

Rothman Institute Papers

INTRODUCTION: Tranexamic acid (TXA) effectively reduces blood loss and transfusion requirements in shoulder arthroplasty. However, concerns regarding thromboembolic, neurologic, cardiac, and renal complications have limited its use in medically high-risk patients. This study evaluated temporal trends and the safety of TXA in high-risk patients undergoing total shoulder arthroplasty (TSA).

METHODS: A retrospective cohort study was conducted using TriNetX, identifying patients who underwent shoulder arthroplasty (2012-2025). Patients were stratified by preexisting high-risk conditions, including prior thromboembolism, renal failure, atrial fibrillation, seizure disorders, and visual disturbances. Within each subgroup, patients receiving TXA were propensity score-matched to those who did not. Perioperative TXA …


Cerebrovascular Risk With Calcitonin Gene-Related Peptide Monoclonal Antibodies Versus Onabotulinumtoxina In Patients With Migraine: A Real-World Pharmacoepidemiologic Study In The National Institutes Of Health All Of Us Research Program, Sedat Gül, Bradley Ong, Stephen Trudeau, Nicolas Thompson, Hsiangkuo Yuan Jul 2026

Cerebrovascular Risk With Calcitonin Gene-Related Peptide Monoclonal Antibodies Versus Onabotulinumtoxina In Patients With Migraine: A Real-World Pharmacoepidemiologic Study In The National Institutes Of Health All Of Us Research Program, Sedat Gül, Bradley Ong, Stephen Trudeau, Nicolas Thompson, Hsiangkuo Yuan

Department of Jefferson Headache Center Papers and Presentations

AimTo evaluate whether initiation of calcitonin gene-related peptide (CGRP) monoclonal antibodies (mAbs) was non-inferior to initiation of onabotulinumtoxinA with respect to the hazard of ischemic stroke or transient ischemic attack (IS + TIA) in a real-world cohort of adults with migraine.MethodsWe conducted a retrospective, active-comparator, new-user pharmacoepidemiology study using the NIH All of Us Research Program Registered Tier Dataset (v8). Adults with migraine initiating CGRP mAbs (erenumab, fremanezumab, galcanezumab, eptinezumab) were compared with initiators of onabotulinumtoxinA from January 2018 through September 2023. The primary outcome was IS + TIA occurring more than 90 days after treatment initiation. Inverse probability of …


Medadl: High-Throughput Information Extraction Of Functional Status From Electronic Health Records To Advance Frailty Assessment In Older Adults, Sunyang Fu, Zhiyi Yue, Jennyly T Nguyen, Huipeng Liu, Jaerong Ahn, Vanessa Ramirez, Jude Des Bordes, Hongfang Liu, Min Ji Kwak, Nahid J Rianon Jul 2026

Medadl: High-Throughput Information Extraction Of Functional Status From Electronic Health Records To Advance Frailty Assessment In Older Adults, Sunyang Fu, Zhiyi Yue, Jennyly T Nguyen, Huipeng Liu, Jaerong Ahn, Vanessa Ramirez, Jude Des Bordes, Hongfang Liu, Min Ji Kwak, Nahid J Rianon

Faculty, Staff and Student Publications

Background: Functional status is essential for assessing frailty and planning care in older adults but is often under-documented in the structured fields of electronic health records. Manual chart review can capture functional status information but is labor-intensive and time-consuming. In this study, we developed and validated a scalable natural language processing (NLP) model to extract functional status information from unstructured electronic health record (EHR) notes.

Methods: This retrospective cohort study included 110 older adults seen at a geriatric osteoporosis clinic. A large language model-augmented symbolic NLP pipeline (MedADL) was developed to extract activities of daily living (ADL) and instrumental activities …


Clinical Features And Dental Pathologies In Maxillary Sinus Fungal Balls And Odontogenic Sinusitis, Eunice Im, Lane Donaldson, Avraham Adelman, Nithin D Adappa, Yi-Wei Chen, Nikita Chapurin, Jennifer E Douglas, Glen E D'Souza, Jacob Eide, Maria Espinosa, Chia-Hsiang Fu, Meha G Fox, Rohit Garg, Edward C Kuan, Michael A Kohanski, Marta Kwiatkowska, Kevin Li, Derek H Liu, Tran Bao Locke, Chih-Feng Lin, Chadi Makary, Alice Ottavi, Peter Papagiannopoulos, James N Palmer, Charles C L Tong, Bobby A Tajudeen, Sanjena Venkatesh, Kimberly Wei, Frederick Yoo, Alison J Yu, Jun Jin, Alberto M Saibene, John R Craig Jul 2026

Clinical Features And Dental Pathologies In Maxillary Sinus Fungal Balls And Odontogenic Sinusitis, Eunice Im, Lane Donaldson, Avraham Adelman, Nithin D Adappa, Yi-Wei Chen, Nikita Chapurin, Jennifer E Douglas, Glen E D'Souza, Jacob Eide, Maria Espinosa, Chia-Hsiang Fu, Meha G Fox, Rohit Garg, Edward C Kuan, Michael A Kohanski, Marta Kwiatkowska, Kevin Li, Derek H Liu, Tran Bao Locke, Chih-Feng Lin, Chadi Makary, Alice Ottavi, Peter Papagiannopoulos, James N Palmer, Charles C L Tong, Bobby A Tajudeen, Sanjena Venkatesh, Kimberly Wei, Frederick Yoo, Alison J Yu, Jun Jin, Alberto M Saibene, John R Craig

Faculty, Staff and Students Publications

Objectives: While maxillary sinus fungal balls (MSFB) can be associated with odontogenic conditions (MSFBO), MSFBO clinical and dental features have not been compared to odontogenic sinusitis (ODS). This multicenter study aimed to compare characteristics of MSFB, MSFBO, and ODS.

Methods: A multicenter international retrospective cohort study was conducted on adults with MSFBs and ODS who underwent sinus surgery. First in MSFBs, it was determined whether different dental conditions were more likely in FB versus non-FB sides. Second, clinical features and dental pathologies were compared between MSFBO and ODS. For analyses, dental conditions were considered individually and as two groups: infectious …


Reclassifying Pediatric Nafld Using The Steatotic Liver Disease Framework: A Multicenter Retrospective Study From The Nash Crn, Tin Bo Nicholas Lam, Katherine P Yates, Sheila L Noon, Kimberly P Newton, Mark H Fishbein, Jean P Molleston, Stavra A Xanthakos, Ajay K Jain, Miriam B Vos, Niviann M Blondet, Krupa R Mysore, Cynthia A Behling, Laura A Wilson, Jeffrey B Schwimmer Jul 2026

Reclassifying Pediatric Nafld Using The Steatotic Liver Disease Framework: A Multicenter Retrospective Study From The Nash Crn, Tin Bo Nicholas Lam, Katherine P Yates, Sheila L Noon, Kimberly P Newton, Mark H Fishbein, Jean P Molleston, Stavra A Xanthakos, Ajay K Jain, Miriam B Vos, Niviann M Blondet, Krupa R Mysore, Cynthia A Behling, Laura A Wilson, Jeffrey B Schwimmer

Faculty, Staff and Students Publications

Background and aims: The terminology for hepatic steatosis and NAFLD was revised under the umbrella of steatotic liver disease, with metabolic dysfunction-associated steatotic liver disease (MASLD) as the primary subtype. MASLD is defined by hepatic steatosis plus at least 1 cardiometabolic risk factor. A new category, Met-ALD, describes MASLD with alcohol consumption below the defined thresholds for alcohol-associated liver disease (ALD). While adult studies have demonstrated strong concordance between NAFLD and MASLD, the applicability of this framework in children remains unclear.

Approach and results: We assessed children clinically diagnosed with NAFLD and enrolled in the NASH CRN who had available …


Neighbourhood Social Vulnerability And Preterm Birth Risk Among Infants With Trisomy 21: A Statewide Analysis, Fatima R Sheriff, Renata H Benjamin, Qian Xiao, Jenil Patel, Charles Shumate, Alejandra Fernandez, A J Agopian Jul 2026

Neighbourhood Social Vulnerability And Preterm Birth Risk Among Infants With Trisomy 21: A Statewide Analysis, Fatima R Sheriff, Renata H Benjamin, Qian Xiao, Jenil Patel, Charles Shumate, Alejandra Fernandez, A J Agopian

Faculty, Staff and Student Publications

Background: Residing in socioeconomically vulnerable areas is known to be associated with increased preterm birth (PTB) risk in the general population. However, the relationship between social vulnerability and PTB remains unexplored among infants with trisomy 21, who experience more than twice the PTB rate of the general population.

Objectives: The primary objective was to examine the association between maternal socioeconomic vulnerability, as measured by the SVI, and PTB among infants with trisomy 21.

Methods: We conducted a retrospective cohort study among infants with trisomy 21 born in Texas (1999-2018). We examined the association between neighbourhood vulnerability, measured by Social Vulnerability …


Immediate Postoperative Pacing Dependency Is Not Associated With Worse Mid-Term Survival In Redo Mitral Valve Surgery, Devon Kelley, Joyce Ho, Andrew Belec, Takahiro Tashima, Victoria Li, James Lao, Varun Kathawate, Kazuhiro Ueno, Amit Iyengar, Jessica Dominic, Pavan Atluri Jul 2026

Immediate Postoperative Pacing Dependency Is Not Associated With Worse Mid-Term Survival In Redo Mitral Valve Surgery, Devon Kelley, Joyce Ho, Andrew Belec, Takahiro Tashima, Victoria Li, James Lao, Varun Kathawate, Kazuhiro Ueno, Amit Iyengar, Jessica Dominic, Pavan Atluri

Division of Cardiology Faculty Papers

Risk factors (RF) for permanent pacemaker (PPM) placement in cardiac surgery include valvular operations and redo operations. We aim to identify RF for PPM placement prior to discharge (DC) specifically among redo mitral valvular operations, and to analyze outcomes in this population. Our retrospective review considered 943 patients undergoing redo MV operations between 01/2002 and 12/2021, excluding patients experiencing in-hospital death within 48 hours of their operation and patients with existing PPM or implanted cardiac defibrillator (ICD). Patients (n = 742) were categorized based on whether they received a PPM before DC or not. Of the 742 patients analyzed, 47 …


Risk Factors And Implications Of The Unplanned Shunt In Carotid Endarterectomy, Luisa Trujillo-Guerrero, Camilo Ramírez-Giraldo, Gordon H Martin, Naveed U Saqib, Akiko Tanaka, Margaret L Jackson, Shah-Jahan Dodwad, S Keisin Wang Jul 2026

Risk Factors And Implications Of The Unplanned Shunt In Carotid Endarterectomy, Luisa Trujillo-Guerrero, Camilo Ramírez-Giraldo, Gordon H Martin, Naveed U Saqib, Akiko Tanaka, Margaret L Jackson, Shah-Jahan Dodwad, S Keisin Wang

Faculty, Staff and Student Publications

Background: The implications of intraoperative shunting during carotid endarterectomy (CEA) have been studied often with variable recommendations. While some surgeons favor routine shunting to minimize cerebral hypoperfusion, others reserve shunting based on intraoperative monitoring or high-risk clinical features. Predictors of shunt need not remain poorly defined. This study aimed to identify risk factors associated with overall shunt use and unplanned shunting in patients undergoing CEA.

Methods: We performed a retrospective review of a prospectively maintained large academic United States-based health system carotid surgery database between December 2004 and June 2024. Patients were stratified into two groups: procedures performed in absence …


Long-Term Outcomes And Symptom Response Following Hypofractionated Stereotactic Radiotherapy For Intracranial Meningioma, Ryan Shah, Bs, Nilanjan Haldar, Shray Jain, Lauren Holt, Sophia Shah, Hamail Iqbal, Anthony Chen, Christopher J. Farrell, Debanjan Haldar, James J. Evans, Gregory S. Alexander, Wenyin Shi Jul 2026

Long-Term Outcomes And Symptom Response Following Hypofractionated Stereotactic Radiotherapy For Intracranial Meningioma, Ryan Shah, Bs, Nilanjan Haldar, Shray Jain, Lauren Holt, Sophia Shah, Hamail Iqbal, Anthony Chen, Christopher J. Farrell, Debanjan Haldar, James J. Evans, Gregory S. Alexander, Wenyin Shi

Department of Neurology Faculty Papers

Objective: Various radiation dosing regimens exist due to tumor size, location, and patient preference. This study evaluated the long-term outcomes of patients with benign meningiomas treated with hypofractionated stereotactic radiotherapy (SRT)at our institution.

Methods: This is a retrospective review of all patients diagnosed with meningioma at our institution who received hypofractionated SRT (5 fractions). Clinical data, including tumor location, size, prior treatments, demographics, radiation dosimetric information, tumor response, and survival were collected. Kaplan-Meier curves were used to assess local control (LC). Acute and late toxicities were evaluated. Patients were included for analysis if they had at least one post-treatment magnetic …


Fractionated Stereotactic Radiotherapy (Fsrt) For Symptomatic Who Grade 1 Cavernous Sinus Meningiomas: Long-Term Local Control, Clinical Response, And Toxicity Outcomes, Ryan Shah, Shray Jain, Nilanjan Haldar, Lauren A. Holt, Robert Walker, Christopher J Farrell, Md, Debanjan Haldar, James J. Evans, Gregory S. Alexander, Wenyin Shi Jun 2026

Fractionated Stereotactic Radiotherapy (Fsrt) For Symptomatic Who Grade 1 Cavernous Sinus Meningiomas: Long-Term Local Control, Clinical Response, And Toxicity Outcomes, Ryan Shah, Shray Jain, Nilanjan Haldar, Lauren A. Holt, Robert Walker, Christopher J Farrell, Md, Debanjan Haldar, James J. Evans, Gregory S. Alexander, Wenyin Shi

Department of Radiation Oncology Faculty Papers

PURPOSE: Cavernous sinus meningiomas represent a significant clinical challenge, given the high prevalence of neurological deficits and limited surgical options. Radiation therapy is often the preferred treatment. This study evaluates the effectiveness of fractionated stereotactic radiation therapy (fSRT) in achieving local control and symptomatic relief in patients with cavernous sinus meningiomas.

METHODS: This is a single-institution retrospective analysis of patients with symptomatic presumed WHO grade 1 cavernous sinus meningiomas treated with fSRT (1.8-2 Gy per fraction). Clinical data were collected by chart review. Kaplan-Meier curves were generated to assess local control. Clinical responses were evaluated for symptom improvement, stability, or …


Chiari Malformation Type 1 Is Associated With A Smaller Fourth Ventricle Volume - A Multi-Cohort Replication Study, Jarod L Roland, Thanda Meehan, Alexandra Gabliani, Scott Marek, Nico Dosenbach, Joshua S Shimony, Nilay Jakati, Yi Li, Leo Sugrue, Jennifer M Strahle, Chenyang Lu, David D Limbrick, Gabe Haller Jun 2026

Chiari Malformation Type 1 Is Associated With A Smaller Fourth Ventricle Volume - A Multi-Cohort Replication Study, Jarod L Roland, Thanda Meehan, Alexandra Gabliani, Scott Marek, Nico Dosenbach, Joshua S Shimony, Nilay Jakati, Yi Li, Leo Sugrue, Jennifer M Strahle, Chenyang Lu, David D Limbrick, Gabe Haller

2020-Current year OA Pubs

Chiari Malformation Type 1 (CM1) is canonically defined by ectopic position of the cerebellar tonsils with additional anatomic variations described inconsistently. Effect on fourth ventricle volume is controversial with prior studies reporting disparate results and methodologically limited to single institution series that hinder generalizability. This limitation was addressed utilizing multiple data sources, longitudinal replication, and reproducible methods using both FreeSurfer and the deep learning-based DL+DiReCT tools for automated volumetrics. First, we analyzed a local retrospective clinical cohort of individuals with CM1 and controls. Using data from the Adolescent Brain Cognitive Development (ABCD) Study, we analyzed volumes at baseline then replicated …