Open Access. Powered by Scholars. Published by Universities.®

Digital Commons Network™

Open Access. Powered by Scholars. Published by Universities.®

Discipline
Institution
Keyword
Publication Year
Publication
Publication Type
File Type

Articles 12271 - 12300 of 1732396

Full-Text Articles in Entire DC Network

A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura Jul 2026

A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura

Faculty, Staff and Students Publications

In 2016, the Japan Children's Cancer Group launched a nationwide research initiative to provide central diagnosis incorporating pathology review and molecular profiling for pediatric central nervous system (CNS) tumors. Over the first eight years, 2224 cases were registered. Non-next-generation sequencing analyzes, such as pyrosequencing and NanoString, were routinely performed, mainly for glioma, medulloblastoma, and ependymoma. Additional analyzes, including methylation profiling and RNA sequencing, were conducted for selected diagnostically challenging cases. The most common diagnoses were low-grade glioma (26%), medulloblastoma (18%), germ cell tumor (16%), high-grade glioma (12%), and ependymoma (11%). Diagnostic or targetable alterations were detected in nearly half of …


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 …


Adlm Guidance Document On Incorporating Gender Diversity In Pathology And Laboratory Medicine, Tiffany A Thomas, Gabrielle N Winston-Mcpherson, Ina Amarillo, Alisha D Berry, Caroline J Davidge-Pitts, Sridevi Devaraj, Zil Goldstein, Brad S Karon, Brooke M Katzman, Mahmoud A Khalifa, Hung S Luu, James H Nichols, Tracy L Stockley, Michelle R Stoffel, Dina N Greene, Matthew D Krasowski Jul 2026

Adlm Guidance Document On Incorporating Gender Diversity In Pathology And Laboratory Medicine, Tiffany A Thomas, Gabrielle N Winston-Mcpherson, Ina Amarillo, Alisha D Berry, Caroline J Davidge-Pitts, Sridevi Devaraj, Zil Goldstein, Brad S Karon, Brooke M Katzman, Mahmoud A Khalifa, Hung S Luu, James H Nichols, Tracy L Stockley, Michelle R Stoffel, Dina N Greene, Matthew D Krasowski

Faculty, Staff and Students Publications

Background: The first international clinical standards of care for the gender-diverse population were formulated in the late 1970s. In the last 15 years, multiple subspecialty societies within the United States have developed clinical care guidelines for those with gender dysphoria, including gender-affirming hormone therapy (GAHT) and surgical treatments. To date, there are no pathology- and laboratory medicine-specific recommendations in the United States for the gender-diverse population.

Content: This document outlines pathology- and laboratory medicine-specific recommendations for providing optimal care to the gender-diverse population, with a predominant focus on the adult population. The scope of this document focuses on the following …


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 …


Asynchronous Transitions From High-Risk Hepatoblastoma To Carcinoma, Xinjian Yu, Stephen Sarabia, Martin Urbicain, Sonal Somvanshi, Roma Patel, Priyanka Rao, Tuan M Tran, Yen-Ping Yeh, Keng-Shih Chang, Yi-Tzu Lo, Jessica Epps, Kathleen A Scorsone, Hua-Sheng Chiu, Emporia Faith Hollingsworth, Cintia R Perez, Mohammad Javad Najaf Panah, Barry Zorman, Jordan Muscal, Milton J Finegold, John A Goss, Rita Alaggio, Angshumoy Roy, Kevin E Fisher, Andras Heczey, Sarah Woodfield, Sanjeev Vasudevan, Kalyani Patel, Ting-Wen Chen, Dolores Lopez-Terrada, Pavel Sumazin Jul 2026

Asynchronous Transitions From High-Risk Hepatoblastoma To Carcinoma, Xinjian Yu, Stephen Sarabia, Martin Urbicain, Sonal Somvanshi, Roma Patel, Priyanka Rao, Tuan M Tran, Yen-Ping Yeh, Keng-Shih Chang, Yi-Tzu Lo, Jessica Epps, Kathleen A Scorsone, Hua-Sheng Chiu, Emporia Faith Hollingsworth, Cintia R Perez, Mohammad Javad Najaf Panah, Barry Zorman, Jordan Muscal, Milton J Finegold, John A Goss, Rita Alaggio, Angshumoy Roy, Kevin E Fisher, Andras Heczey, Sarah Woodfield, Sanjeev Vasudevan, Kalyani Patel, Ting-Wen Chen, Dolores Lopez-Terrada, Pavel Sumazin

Faculty, Staff and Students Publications

Background & aims: Most pediatric hepatocellular tumors are classified as hepatoblastoma (HB) or hepatocellular carcinoma (HCC), yet a subset exhibits mixed histological and molecular features. These hepatoblastomas with carcinoma features (HBCs) include cases provisionally designated as hepatocellular neoplasm-not otherwise specified (HCN-NOS). Their biology remains poorly understood, with unresolved questions about their cellular composition and outcomes. It is unclear whether HBCs comprise hybrid cells with combined HB and HCC characteristics (HBC cells) or admixtures of distinct HB and HCC cells. We characterized the biology, etiology, cellular composition, and evolutionary dynamics of HBCs.

Methods: We performed multi-omics profiling - including single-nucleus RNA …


Quality Domains In Home-Based Pediatric Hospice And Palliative Care: Adolescent And Young Adult Perspectives, Daniel H Grossoehme, Claire A Crawford, Jhansi Chandra Ellakula, Toluwalase Ajayi, Justin N Baker, Sarah Friebert, Lisa Humphrey, Jillann Jarrell, Rachel Thienprayoon, Pamela S Hinds Jul 2026

Quality Domains In Home-Based Pediatric Hospice And Palliative Care: Adolescent And Young Adult Perspectives, Daniel H Grossoehme, Claire A Crawford, Jhansi Chandra Ellakula, Toluwalase Ajayi, Justin N Baker, Sarah Friebert, Lisa Humphrey, Jillann Jarrell, Rachel Thienprayoon, Pamela S Hinds

Faculty, Staff and Students Publications

Background: Current United States palliative care practice guidelines are intended to cover care across all age groups. Previous research with pediatric providers and caregivers concluded that pediatric hospice and palliative care have unique attributes. Not known is how adolescent hospice and palliative care patients understand quality palliative care. The purpose of this study was to characterize and define quality of care domains as described by adolescent and young adult patients receiving home-based hospice and palliative care.

Methods: Semi-structured interviews with 10-26 year-olds who received home-based hospice and/or palliative care visits in the prior three years at six diverse sites in …


Age-Appropriate Low Dosing For Food Protein-Induced Enterocolitis Syndrome Oral Food Challenges: Proposing A Standardized Approach, Sara Anvari, Mary Grace Baker, Theresa Bingemann, J Andrew Bird, Terri Brown-Whitehorn, Antonella Cianferoni, Raquel Durban, Malika Gupta, Erin Hosein, George Konstantinou, Stephanie Leonard, Melanie A Ruffner, Allison Schaible, Amy M Scurlock, Pooja Varshney, Antonella Muraro, Alessandro Fiocchi, Alexandra F Santos, Stefania Arasi, Marta Vazquez-Ortiz, Hideaki Morita, Ichiro Nomura, Julia E M Upton, Michael Levin, Eric Lee, Cesar Galvan, Rodrigo Hoyos-Bachiloglu, Pantipa Chatchatee, Kirsten Beyer, George Du Toit, Purificacion Gonzalez-Delgado, Lydia Su Yin Wong, Marion Groetch, Anna Nowak-Wegrzyn Jul 2026

Age-Appropriate Low Dosing For Food Protein-Induced Enterocolitis Syndrome Oral Food Challenges: Proposing A Standardized Approach, Sara Anvari, Mary Grace Baker, Theresa Bingemann, J Andrew Bird, Terri Brown-Whitehorn, Antonella Cianferoni, Raquel Durban, Malika Gupta, Erin Hosein, George Konstantinou, Stephanie Leonard, Melanie A Ruffner, Allison Schaible, Amy M Scurlock, Pooja Varshney, Antonella Muraro, Alessandro Fiocchi, Alexandra F Santos, Stefania Arasi, Marta Vazquez-Ortiz, Hideaki Morita, Ichiro Nomura, Julia E M Upton, Michael Levin, Eric Lee, Cesar Galvan, Rodrigo Hoyos-Bachiloglu, Pantipa Chatchatee, Kirsten Beyer, George Du Toit, Purificacion Gonzalez-Delgado, Lydia Su Yin Wong, Marion Groetch, Anna Nowak-Wegrzyn

Faculty, Staff and Students Publications

Current oral food challenge (OFC) protocols for food protein-induced enterocolitis syndrome (FPIES) exhibit significant variability, creating potential for inconsistent diagnostic outcomes and severe reactions. Based on the published evidence and our clinical experience, we propose a practical, standardized OFC dosing protocol that emphasizes patient safety, goals based on age-appropriate servings (AASs), and clinical monitoring. A recent systematic review reported that most patients with persistent FPIES who underwent OFCs reacted to just 25% of an AAS, with low rates of severe reactions. Thus, we recommend that most patients undergoing a medically supervised FPIES OFC receive a cumulative dose of 25% AAS, …


Ebneo Commentary: The Lakana Trial: Mass Administration Of Azithromycin To Infants In Mali Did Not Reduce Mortality, Maya I Brasher, Monika S Patil Jul 2026

Ebneo Commentary: The Lakana Trial: Mass Administration Of Azithromycin To Infants In Mali Did Not Reduce Mortality, Maya I Brasher, Monika S Patil

Faculty, Staff and Students Publications

The LAKANA trial: a randomized control trial evaluating the impact of mass administration of azithromycin to infants 1 to 11 months of age in Mali showed no reduction in mortality.


An Examination Of Buprenorphine And Norbuprenorphine Concentrations In Inpatients Receiving Medications For Opioid Use Disorder, Michèle Haykal, Benjamin Li, Andres Avellaneda Ojeda, Roberto Sanchez, Nancy Shenoi, Asim Shah, Nidal Moukaddam Jul 2026

An Examination Of Buprenorphine And Norbuprenorphine Concentrations In Inpatients Receiving Medications For Opioid Use Disorder, Michèle Haykal, Benjamin Li, Andres Avellaneda Ojeda, Roberto Sanchez, Nancy Shenoi, Asim Shah, Nidal Moukaddam

Faculty, Staff and Students Publications

Background: Interpretation of urine buprenorphine and norbuprenorphine concentrations is widely used to assess adherence during treatment for opioid use disorder. However, the relationships between dose, timing of sample collection, and metabolite ratios remain unclear, leading to potential misinterpretation in clinical practice.

Methods: Data were collected from patients on a psychiatry unit who were either inducted on or continued buprenorphine therapy and underwent urine testing for buprenorphine and its metabolite, norbuprenorphine. Urine samples were collected 16 to 786 min after the last buprenorphine dose. Norbuprenorphine-to-buprenorphine ratios were calculated. Data analysis using Python included polynomial regression and random forest models.

Results: Daily …


Blinded, Bias-Controlled Multi-Rater Evaluation Of Human-Versus-Ai Brain Metastasis Segmentation Using A Hybrid Foundation-Model Framework, Yiding Han, Enze Zhu, Mhd Hasan Ai Mekdash, Omar Awad, Piyush Pathak, Shixiao Liang, Daniel Allan Hamstra, Xizhe Zhang, Zaid Ali Siddiqui, Baozhou Sun Jul 2026

Blinded, Bias-Controlled Multi-Rater Evaluation Of Human-Versus-Ai Brain Metastasis Segmentation Using A Hybrid Foundation-Model Framework, Yiding Han, Enze Zhu, Mhd Hasan Ai Mekdash, Omar Awad, Piyush Pathak, Shixiao Liang, Daniel Allan Hamstra, Xizhe Zhang, Zaid Ali Siddiqui, Baozhou Sun

Faculty, Staff and Students Publications

Background: Accurate segmentation of brain metastases (BM) is essential for diagnosis, stereotactic radiosurgery planning, and longitudinal assessment. However, manual contouring is time-intensive, limiting clinical scalability, and exhibits substantial inter-observer variability. This variability complicates objective assessment of automated segmentation methods and challenges interpretation of model performance.

Purpose: To address these limitations, we developed TUM-SAM, a hybrid foundation-model framework for fully automated BM segmentation, and introduced a bias-controlled, blinded multi-rater evaluation paradigm to determine whether AI-based BM segmentation has reached expert-level performance and whether AI-generated contours are preferred by human experts under unbiased assessment.

Methods: TUM-SAM integrates nnU-Net-based lesion detection with a …


Homework Adherence In Exposure-Based Cbt For Youth With Obsessive-Compulsive Disorder: Clinical Outcomes And Predictors Across Treatment, Abigail E Pine, Qimin Liu, Eric A Storch, Daniel A Geller, Brent J Small, Sabine Wilhelm, Joseph F Mcguire Jul 2026

Homework Adherence In Exposure-Based Cbt For Youth With Obsessive-Compulsive Disorder: Clinical Outcomes And Predictors Across Treatment, Abigail E Pine, Qimin Liu, Eric A Storch, Daniel A Geller, Brent J Small, Sabine Wilhelm, Joseph F Mcguire

Faculty, Staff and Students Publications

Exposure-based cognitive behavioral therapy (CBT) is the frontline treatment for pediatric obsessive-compulsive disorder (OCD), but not all youth fully respond to this treatment. While multiple factors may influence CBT response, homework adherence in CBT is a modifiable target that can improve treatment outcomes. This report examines the relationship between homework adherence and clinical outcomes in a large sample of youth with OCD who received exposure-based CBT. Here, 137 youth with OCD between 7 and 17 years old (M = 12.42, SD = 2.88) participated in a randomized controlled trial of exposure-based CBT. Homework adherence was monitored weekly, and OCD severity …


Mental Health Stigma In Latin American Youth With Obsessive-Compulsive Disorder, Ryan J Mccarty, Matias Jensen, Elissa Paz Jensen Santa Cruz, Melisa N Sagarnaga, Pamela Claisse Quiroz, Tomás Miño, Paola Giusti-Rodriguez, Mayra C Martinez Mallen, Maria B Moyano, Dayan Berrones, Jacey L Anderberg, Renee M Frederick, Hannah C Moore, Josselyn S Muñoz, Vanessa Zavala Cruz, Latin American Trans-Ancestry Initiative For Ocd Genomics (Latino), Brazilian Obsessive-Compulsive Spectrum Working Group (Gttoc), Ogechi C Onyeka, Andrew D Wiese, James J Crowley, Eric A Storch Jul 2026

Mental Health Stigma In Latin American Youth With Obsessive-Compulsive Disorder, Ryan J Mccarty, Matias Jensen, Elissa Paz Jensen Santa Cruz, Melisa N Sagarnaga, Pamela Claisse Quiroz, Tomás Miño, Paola Giusti-Rodriguez, Mayra C Martinez Mallen, Maria B Moyano, Dayan Berrones, Jacey L Anderberg, Renee M Frederick, Hannah C Moore, Josselyn S Muñoz, Vanessa Zavala Cruz, Latin American Trans-Ancestry Initiative For Ocd Genomics (Latino), Brazilian Obsessive-Compulsive Spectrum Working Group (Gttoc), Ogechi C Onyeka, Andrew D Wiese, James J Crowley, Eric A Storch

Faculty, Staff and Students Publications

Obsessive-compulsive disorder (OCD) is an impairing mental health condition that affects individuals across the lifespan. Some literature has evaluated mental health stigma in adults with OCD but limited attention has been given to youth, as well as those of Latino ancestry. The present study reported the extent of stigma experiences among Latin American youth with OCD, as well as examined sociodemographic, clinical and psychological correlates. 235 youth with clinician confirmed diagnoses of OCD from 10 North and South American countries completed questionnaires assessing stigma experiences, symptomatology, and functioning. Sociodemographic and clinical variables were also collected. The average OCD stigma response …


Caregiver Satisfaction With Anxiety Treatment For Autistic Youth: A Mixed Methods Examination, Lesley A Norris, Jonathan C Rabner, Marika Marklin, Margaret E Crane, Kathrin Renschler, Emma Jenkins, Joshua Kemp, Eric A Storch, Jeffrey J Wood, Connor M Kerns, Adam B Lewin, Brent J Small, Philip C Kendall Jul 2026

Caregiver Satisfaction With Anxiety Treatment For Autistic Youth: A Mixed Methods Examination, Lesley A Norris, Jonathan C Rabner, Marika Marklin, Margaret E Crane, Kathrin Renschler, Emma Jenkins, Joshua Kemp, Eric A Storch, Jeffrey J Wood, Connor M Kerns, Adam B Lewin, Brent J Small, Philip C Kendall

Faculty, Staff and Students Publications

For Cognitive Behavioral Therapy to best meet the specific needs of autistic youth with co-occurring anxiety and to continue to grow as a sustainable treatment option, it is important to incorporate caregiver perspectives and feedback. Data were drawn from a randomized controlled trial and included 148 caregivers of autistic youth (ages 7-13 years, M = 9.89, SD = 1.79; 23% female; 77.7% White) with co-occurring anxiety disorders randomized to one of two active treatment conditions (Coping Cat, n = 72, or Behavioral Interventions for Anxiety in Children with Autism [BIACA], n = 76). A systematic inductive thematic analysis was used …


Reciprocal Compensation Of Caspase-2 And P53 Regulates The Dna Damage Response In Hct116 Colon Cancer Cells, Karla E Lopez, Leslie Bandera, Luiza E Coutinho, Karen Zúñiga, Sarah Wright, Lisa Bouchier-Hayes Jul 2026

Reciprocal Compensation Of Caspase-2 And P53 Regulates The Dna Damage Response In Hct116 Colon Cancer Cells, Karla E Lopez, Leslie Bandera, Luiza E Coutinho, Karen Zúñiga, Sarah Wright, Lisa Bouchier-Hayes

Faculty, Staff and Students Publications

Caspase-2 has positive and negative effects on tumor growth in different cancer models. The mechanisms determining these dual outcomes of caspase-2 activation are unclear underscoring the need to assess caspase-2 function in different cell types. We report that high caspase-2 expression is associated with lower survival in patients with colon cancer and increased tumor size in HCT116 colon cancer xenografts. We investigated the interplay between caspase-2 and p53 in regulating the proliferation of these cells. While neither of these proteins had much of an effect on cell cycle arrest on their own, deficiency in both caspase-2 and p53 led to …


Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira Jul 2026

Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira

Faculty, Staff and Students Publications

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework …


Jak Inhibition In Pnpt1-Related Mitochondrial Interferonopathy: A Case Report And Review Of Mitochondrial-Immune Crosstalk, Dan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, Steven Lang, Emily Bland, Rui Yang, Sarah Kogan Nicholas, Stephanie Jean Sikkink, Stephen Kralik, Christine Eng, Chaya Nautiyal Murali, Seema Lalani, Pilar Lenglet Magoulas, Lisa Emrick, Kristen Sydney Fisher, Fernando Scaglia Jul 2026

Jak Inhibition In Pnpt1-Related Mitochondrial Interferonopathy: A Case Report And Review Of Mitochondrial-Immune Crosstalk, Dan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, Steven Lang, Emily Bland, Rui Yang, Sarah Kogan Nicholas, Stephanie Jean Sikkink, Stephen Kralik, Christine Eng, Chaya Nautiyal Murali, Seema Lalani, Pilar Lenglet Magoulas, Lisa Emrick, Kristen Sydney Fisher, Fernando Scaglia

Faculty, Staff and Students Publications

Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through cytosolic leakage of mitochondrial double‐stranded RNA (mt‐dsRNA). This mechanism connects mitochondrial disease to interferonopathies such as Aicardi–Goutières syndrome (AGS). We describe a 7‐month‐old female infant with compound heterozygous PNPT1 variants presenting with severe hypotonia, feeding difficulties necessitating gastrostomy, dystonia, and elevated serum lactate. Brain magnetic resonance imaging (MRI) demonstrated marked cerebellar, brainstem, and basal ganglia atrophy, with a lactate peak on MR spectroscopy (consistent with an inverted doublet). Serum immune profiling revealed a mild but elevated …


Biphasic Sleep Is A Feature Of Sleep Disturbance In Syngap1-Rd, Aida Doucoure, Het Patel, Mark A Abboud, Alice Sperry, Sarah K Wanigatunga, Deana Crocetti, Heather Volk, Adam P Spira, Stewart H Mostofsky, Vaishnav Krishnan, Constance Smith-Hicks Jul 2026

Biphasic Sleep Is A Feature Of Sleep Disturbance In Syngap1-Rd, Aida Doucoure, Het Patel, Mark A Abboud, Alice Sperry, Sarah K Wanigatunga, Deana Crocetti, Heather Volk, Adam P Spira, Stewart H Mostofsky, Vaishnav Krishnan, Constance Smith-Hicks

Faculty, Staff and Students Publications

Study objectives: Sleep problems are common in children with SYNGAP1-Related Disorder (SYNGAP1-RD). The use of devices that objectively estimate sleep are complicated by co-occurring sensory disorders in this population. We examined the feasibility and validity of wrist actigraphy to examine sleep and rest-activity rhythms (RAR).

Methods: Data from five children with SYNGAP1-RD and 42 typically developing children were analyzed. All children were asked to wear the Actiwatch-2 for 14 continuous days and caregivers were asked to complete a sleep diary and the Children Sleep Health Questionnaire (CSHQ). Parametric (alpha, beta, acrophase, amplitude, up/down mesor, mesor), nonparametric (intradaily variability, interdaily stability, …


Performance Of Fecal Calprotectin And Serum Procalcitonin For The Diagnosis Of Spontaneous Bacterial Peritonitis In Patients With Cirrhosis: A Prospective Diagnostic Accuracy Study, Mandip Singh Bhatia, Devarakonda Uday Teja, Nipun Verma, Archana Angrup, Saurabh Chandrabhan Sharda Jul 2026

Performance Of Fecal Calprotectin And Serum Procalcitonin For The Diagnosis Of Spontaneous Bacterial Peritonitis In Patients With Cirrhosis: A Prospective Diagnostic Accuracy Study, Mandip Singh Bhatia, Devarakonda Uday Teja, Nipun Verma, Archana Angrup, Saurabh Chandrabhan Sharda

Faculty, Staff and Students Publications

Background:: Spontaneous bacterial peritonitis (SBP) is a life-threatening complication in patients with cirrhosis and ascites. This study aimed to evaluate the diagnostic performance of biomarkers—calprotectin (serum, ascitic, fecal) and serum procalcitonin (PCT)—for SBP.

Methods:: This prospective diagnostic accuracy study, enrolled 137 consecutive patients with cirrhosis and ascites at a tertiary care center in India. Participants were categorized into SBP (n = 55) and non-SBP (n = 82) groups based on the reference standard of ascitic fluid neutrophil count. Serum, ascitic fluid, and fecal calprotectin were measured by enzyme-linked immunosorbent assay, and serum PCT was measured by electrochemiluminescence immunoassay. …


Development And Validation Of The A-Tango Organ Failure Score For Acute-On-Chronic Liver Failure In Global Cohorts, Cornelius Engelmann, Nipun Verma, Tingting Qi, Annarein Johanna Catharina Kerbert, Julian Pohl, Carrie Morgan, Michal Kowalski, Fausto Andreola, Marcelo Oscar Silva, Jose Luis Perez Hernandez, Renato Palma-Fernandez, Manuel Mendizabal, Osvely Mendez-Guerrero, Jose Luis Marin, Sebastián Marciano, René Male-Velazquez, Maria Sarai González-Huezo, Adrian Gadano, Fernando Bessone, Carlos Benitez, Oscar Alfredo Beltran Galvis, Mauricio Castillo Barradas, Marco Arrese, Karen Vagner-Danielsen, Peter Jarcuska, Boglarka Balogh, Zsuzsanna Vitalis, Antonella Putignano, Manuel Tufoni, Michael Manns, Claire Francoz, Manuel Romero-Gomez, Stephen Ryder, Pierre Nahon, Sven Francque, Osman Özdogan, Cristina Sole, Jose Presa Ramos, Heinz Zoller, Manuela Merli, Flemming Bendtsen, Thomas Berg, Alexander Zipprich, Pietro Gatti, Juan Acevedo, Martin Janicko, Frank Erhard Uschner, Carmine Gabriele Gambino, Giacomo Zaccherini, Xianbo Wang, Xin Zheng, Guohong Deng, Yan Huang, Zhongji Meng, Yanghang Gao, Zhiping Qian, Xiaobo Lu, Feng Lui, Yu Shi, Jia Shang, Yubao Zheng, Yingli He, Sunil Taneja, Pratibha Garg, Hans Van Vlierberghe, Christian Steib, Rudolf Stauber, German Soriano, Raj Mookerjee, Henning Gronbaek, Andrea De Gottardi, Minneke Coenraad, Rafael Banares, Stefan Zeuzem, Alexander Gerbes, Marco Domenicali, Faouzi Saliba, Francois Durand, Hai Li, Ajay Duseja, Jinjun Chen, Rajiv Jalan Jul 2026

Development And Validation Of The A-Tango Organ Failure Score For Acute-On-Chronic Liver Failure In Global Cohorts, Cornelius Engelmann, Nipun Verma, Tingting Qi, Annarein Johanna Catharina Kerbert, Julian Pohl, Carrie Morgan, Michal Kowalski, Fausto Andreola, Marcelo Oscar Silva, Jose Luis Perez Hernandez, Renato Palma-Fernandez, Manuel Mendizabal, Osvely Mendez-Guerrero, Jose Luis Marin, Sebastián Marciano, René Male-Velazquez, Maria Sarai González-Huezo, Adrian Gadano, Fernando Bessone, Carlos Benitez, Oscar Alfredo Beltran Galvis, Mauricio Castillo Barradas, Marco Arrese, Karen Vagner-Danielsen, Peter Jarcuska, Boglarka Balogh, Zsuzsanna Vitalis, Antonella Putignano, Manuel Tufoni, Michael Manns, Claire Francoz, Manuel Romero-Gomez, Stephen Ryder, Pierre Nahon, Sven Francque, Osman Özdogan, Cristina Sole, Jose Presa Ramos, Heinz Zoller, Manuela Merli, Flemming Bendtsen, Thomas Berg, Alexander Zipprich, Pietro Gatti, Juan Acevedo, Martin Janicko, Frank Erhard Uschner, Carmine Gabriele Gambino, Giacomo Zaccherini, Xianbo Wang, Xin Zheng, Guohong Deng, Yan Huang, Zhongji Meng, Yanghang Gao, Zhiping Qian, Xiaobo Lu, Feng Lui, Yu Shi, Jia Shang, Yubao Zheng, Yingli He, Sunil Taneja, Pratibha Garg, Hans Van Vlierberghe, Christian Steib, Rudolf Stauber, German Soriano, Raj Mookerjee, Henning Gronbaek, Andrea De Gottardi, Minneke Coenraad, Rafael Banares, Stefan Zeuzem, Alexander Gerbes, Marco Domenicali, Faouzi Saliba, Francois Durand, Hai Li, Ajay Duseja, Jinjun Chen, Rajiv Jalan

Faculty, Staff and Students Publications

Background & aims: Acute-on-chronic liver failure (ACLF) is characterised by multiorgan failure and high short-term mortality in hospitalised patients with acute decompensation of cirrhosis. Although the EASL-CLIF criteria are widely used for diagnosis and prognostication, evolving definitions of organ dysfunction and emerging therapies require updated, tailored criteria to improve diagnostic accuracy, treatment assessment, and applicability in clinical trials. We aimed to develop and validate the A-TANGO organ failure (OF) score to refine ACLF diagnosis and enhance its utility for treatment response evaluation and risk stratification.

Methods: We performed a retrospective analysis of prospective observational cohorts. The derivation cohort comprised three …


Escape Room Vs. Classroom: A Comparative Study On Meaningful Learning And Knowledge Retention, Michael Defrancisco, Amanda Bennett, Victoria English Jul 2026

Escape Room Vs. Classroom: A Comparative Study On Meaningful Learning And Knowledge Retention, Michael Defrancisco, Amanda Bennett, Victoria English

MaineHealth Maine Medical Center

Purpose: To compare escape room learning and standard education platforms (didactic) instruction on nurses’ confidence, knowledge retention, and perceived meaningfulness.


Aerocom: Summer 2026, John D. Odegard School Of Aerospace Sciences Jul 2026

Aerocom: Summer 2026, John D. Odegard School Of Aerospace Sciences

Aerocom: John D. Odegard School of Aerospace Sciences Alumni Magazine

No abstract provided.


Double Trouble: A Case Series Of Patients With Primary Lung And Esophageal Cancer, Srineil Vuthaluru Jun 2026

Double Trouble: A Case Series Of Patients With Primary Lung And Esophageal Cancer, Srineil Vuthaluru

Graduate Medical Education Research Journal

NA


A Rhabdo Roller Coaster: Delayed Diagnosis Of Mcardle Disease In A Patient With Recurrent Non- Traumatic Rhabdomyolysis, Marilee Schaner Jun 2026

A Rhabdo Roller Coaster: Delayed Diagnosis Of Mcardle Disease In A Patient With Recurrent Non- Traumatic Rhabdomyolysis, Marilee Schaner

Graduate Medical Education Research Journal

NA


A Severe Presentation Of Sickle Cell Crisis, Marilee Schaner Jun 2026

A Severe Presentation Of Sickle Cell Crisis, Marilee Schaner

Graduate Medical Education Research Journal

NA


Vaccination Attitudes Of Migrant And Seasonal Farm Workers In Iowa: Analysis Of A Clinical Survery, Jenna Mccoy Jun 2026

Vaccination Attitudes Of Migrant And Seasonal Farm Workers In Iowa: Analysis Of A Clinical Survery, Jenna Mccoy

Graduate Medical Education Research Journal

NA


Loss Of Cd44 On Immunohistochemistry Shows Increased Likelihood Of Early Recurrence In Non- Invasive Low-Grade Papillary Urothelial Carcinoma With A Minor (< 5%) High-Grade Component, Holly Mitzel Jun 2026

Loss Of Cd44 On Immunohistochemistry Shows Increased Likelihood Of Early Recurrence In Non- Invasive Low-Grade Papillary Urothelial Carcinoma With A Minor (< 5%) High-Grade Component, Holly Mitzel

Graduate Medical Education Research Journal

NA


Technical Validation Of Insulin Immunoassay For Cross-Reactivity Of Veterinary Insulins, Kristina Sevcik Jun 2026

Technical Validation Of Insulin Immunoassay For Cross-Reactivity Of Veterinary Insulins, Kristina Sevcik

Graduate Medical Education Research Journal

NA


Liberal Renal Sinus Sampling After Introduction Of Subspecialized Genitourinary Practice Leads To Upstaging And Optimal Management Of Renal Cell Carcinoma, Rory Li Jun 2026

Liberal Renal Sinus Sampling After Introduction Of Subspecialized Genitourinary Practice Leads To Upstaging And Optimal Management Of Renal Cell Carcinoma, Rory Li

Graduate Medical Education Research Journal

NA


Primary Cutaneous Marginal Zone Lymphoma With Admixed Hodgkin Lymphoma: A First Of Its Kind Of Collision, Pauline Xu Jun 2026

Primary Cutaneous Marginal Zone Lymphoma With Admixed Hodgkin Lymphoma: A First Of Its Kind Of Collision, Pauline Xu

Graduate Medical Education Research Journal

NA


Ebv-Negative T-Cell Post-Transplant Lymphoproliferative Disorder Of The Skin With Ebv-Positive Diffuse Large B-Cell Lymphoma Of The Intestine In A Multi-Organ Transplant Recipient Child, Pauline Xu Jun 2026

Ebv-Negative T-Cell Post-Transplant Lymphoproliferative Disorder Of The Skin With Ebv-Positive Diffuse Large B-Cell Lymphoma Of The Intestine In A Multi-Organ Transplant Recipient Child, Pauline Xu

Graduate Medical Education Research Journal

NA