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2025

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Nortriptyline Inhibits Lysosomal Exocytosis-Mediated Sasp During Gastric Cancer Progression Via Targeting Hoxa1-Pitx2 Phase Separation, Yi Zhou, Chunhui Yang, Xinyue Li, Xiaojing Wang, Wanju Jiao, Xiaolin Wang, Jiaying Qu, Bosen Zhao, Shunchen Zhou, Qiangsong Tong, Liduan Zheng Dec 2025

Nortriptyline Inhibits Lysosomal Exocytosis-Mediated Sasp During Gastric Cancer Progression Via Targeting Hoxa1-Pitx2 Phase Separation, Yi Zhou, Chunhui Yang, Xinyue Li, Xiaojing Wang, Wanju Jiao, Xiaolin Wang, Jiaying Qu, Bosen Zhao, Shunchen Zhou, Qiangsong Tong, Liduan Zheng

Faculty, Staff and Students Publications

Lysosomal exocytosis, a calcium-dependent secretory process, facilitates extracellular release of cargos that promote cancer progression, though its regulatory pathways and therapeutic strategies are poorly understood. Herein, using combined transcriptomic and proteomic approaches, we identify homeobox A1 (HOXA1) as a functional partner of paired like homeodomain 2 (PITX2) within biomolecular condensates forming via liquid-liquid phase separation. Mechanistically, HOXA1-PITX2 complex facilitates the expression of mucolipin 1 (MCOLN1) and RAS-related protein Rab-3A (RAB3A), which drive lysosomal exocytosis of galectin-1 (LGALS1) and insulin like growth factor binding protein 7 (IGFBP7) from senescent gastric cancer cells. This process potentiates AKT activation and epithelial-mesenchymal transition, accelerating …


Daptomycin Resistance Of Corynebacterium Jeikeium Due To Pgsa Gene Mutation Acquired During Daptomycin Treatment In A Patient With Infective Endocarditis, Makoto Inada, Kohji Komori, Sohei Harada, Shinya Yamamoto, Koh Okamoto, Ayano Nakazato, Yoshimi Higurashi, Shuhei Matsumoto, Junji Tokushige, Arika Shimura, Takeya Tsutsumi Dec 2025

Daptomycin Resistance Of Corynebacterium Jeikeium Due To Pgsa Gene Mutation Acquired During Daptomycin Treatment In A Patient With Infective Endocarditis, Makoto Inada, Kohji Komori, Sohei Harada, Shinya Yamamoto, Koh Okamoto, Ayano Nakazato, Yoshimi Higurashi, Shuhei Matsumoto, Junji Tokushige, Arika Shimura, Takeya Tsutsumi

Faculty, Staff and Students Publications

Daptomycin is an alternative agent for invasive infections caused by Corynebacterium species in patients with intolerance to vancomycin. Although it has recently been recognized that treatment failure with daptomycin due to the emergence of resistant strains during treatment is not uncommon in Corynebacterium striatum infections, it has been unclear whether there is a similar risk in Corynebacterium jeikeium infections. In the presenting case, daptomycin treatment for C. jeikeium endocarditis in a liver transplant recipient with neutropenia failed due to the rapid emergence of the resistant strain. Whole-genome sequencing analysis of blood culture isolates confirmed that a mutation in the pgsA …


Healthy Aging And Aging-Related Kidney Diseases: Lessons From Centenarians, Shinya Yamamoto, Yasumichi Arai, Tatsuaki Kosaka, Minami Matsumoto, Ryo Yamada, Takahisa Yoshikawa, Motoko Yanagita Dec 2025

Healthy Aging And Aging-Related Kidney Diseases: Lessons From Centenarians, Shinya Yamamoto, Yasumichi Arai, Tatsuaki Kosaka, Minami Matsumoto, Ryo Yamada, Takahisa Yoshikawa, Motoko Yanagita

Faculty, Staff and Students Publications

The world's population is aging, and age-related diseases such as neurodegenerative, cardiovascular, and metabolic disorders are rapidly increasing. The field of nephrology is expected to be profoundly influenced by the demographic trend toward increased life expectancy. Consequently, promoting healthy aging has emerged as a critical priority for both individuals and society. Centenarians (those who have reached the age of 100) exemplify exceptional longevity and are regarded as a model of healthy aging. They are distinguished by a notable resistance to risk factors commonly associated with cardiovascular diseases, such as diabetes and dyslipidemia. Remarkably, although centenarians exhibit a high prevalence of …


Reply To Chaïbi And Tandjaoui-Lambiotte And To Young And Scott, Joan B Soriano, Francesca Polverino Dec 2025

Reply To Chaïbi And Tandjaoui-Lambiotte And To Young And Scott, Joan B Soriano, Francesca Polverino

Faculty, Staff and Students Publications

No abstract provided.


Gene Therapy Cm-Yapon Protects The Mouse Heart From Myocardial Infarction, Fansen Meng, Jeffrey D Steimle, Elizabeth Straight, Rich G Li, Yuka Morikawa, Zohaib Iqbal, Bing Xie, Jun Wang, Wyatt G Paltzer, Yi Zhao, Chang-Ru Tsai, Lin Liu, Maggie Lim, Rita A Schack, Daniel Ramirez, Katherine Carlson, Vaibhav Deshmukh, Jason M Karch, Robia G Pautler, Xiao Li, James F Martin Dec 2025

Gene Therapy Cm-Yapon Protects The Mouse Heart From Myocardial Infarction, Fansen Meng, Jeffrey D Steimle, Elizabeth Straight, Rich G Li, Yuka Morikawa, Zohaib Iqbal, Bing Xie, Jun Wang, Wyatt G Paltzer, Yi Zhao, Chang-Ru Tsai, Lin Liu, Maggie Lim, Rita A Schack, Daniel Ramirez, Katherine Carlson, Vaibhav Deshmukh, Jason M Karch, Robia G Pautler, Xiao Li, James F Martin

Faculty, Staff and Students Publications

Myocardial infarction (MI) affects millions of people worldwide, causing irreversible injury to the heart and impairing cardiac function1. In both mouse and pig MI models, activating YAP in cardiomyocytes (CMs) stimulates regenerative repair2,3. Here we developed an adeno-associated virus 9 (AAV9)-based therapy, termed CM-YAPon, which enables transient expression of an active YAP variant (YAP5SA) in CMs following exposure to the small molecule LMI070. A single LMI070 dose in mice triggers YAP5SA expression, CM cell cycle re-entry, and reprogramming of the cardiac microenvironment. YAP5SA induction after MI rapidly improves cardiac function while pre-MI induction confers …


Part Ii Common Questions And Misconceptions About Creatine Supplementation: What Does The Scientific Evidence Really Show?, Jose Antonio, Ann F Brown, Darren G Candow, Philip D Chilibeck, Stacey J Ellery, Scott C Forbes, Bruno Gualano, Andrew R Jagim, Chad Kerksick, Richard B Kreider, Sergej M Ostojic, Eric S Rawson, Michael D Roberts, Hamilton Roschel, Abbie E Smith-Ryan, Jeffrey R Stout, Mark A Tarnopolsky, Trisha A Vandusseldorp, Darryn S Willoughby, Tim N Ziegenfuss Dec 2025

Part Ii Common Questions And Misconceptions About Creatine Supplementation: What Does The Scientific Evidence Really Show?, Jose Antonio, Ann F Brown, Darren G Candow, Philip D Chilibeck, Stacey J Ellery, Scott C Forbes, Bruno Gualano, Andrew R Jagim, Chad Kerksick, Richard B Kreider, Sergej M Ostojic, Eric S Rawson, Michael D Roberts, Hamilton Roschel, Abbie E Smith-Ryan, Jeffrey R Stout, Mark A Tarnopolsky, Trisha A Vandusseldorp, Darryn S Willoughby, Tim N Ziegenfuss

Faculty, Staff and Students Publications

Creatine monohydrate supplementation (CrM) is a safe and effective intervention for improving certain aspects of sport, exercise performance, and health across the lifespan. Despite its evidence-based pedigree, several questions and misconceptions about CrM remain. To initially address some of these concerns, our group published a narrative review in 2021 discussing the scientific evidence as to whether CrM leads to water retention and fat accumulation, is a steroid, causes hair loss, dehydration or muscle cramping, adversely affects renal and liver function, and if CrM is safe and/or effective for children, adolescents, biological females, and older adults. As a follow-up, the purpose …


Alternative Splicing Of The Snap23 Microexon Is Regulated By Mbnl, Qki, And Rbfox2 In A Tissue-Specific Manner And Is Altered In Striated Muscle Diseases, Gabrielle M Gentile, R Eric Blue, Grant A Goda, Bryan B Guzman, Rachel A Szymanski, Eunice Y Lee, Nichlas M Engels, Emma R Hinkle, Hannah J Wiedner, Aubriana N Bishop, Jonathan T Harrison, Hua Zhang, Xander H T Wehrens, Daniel Dominguez, Jimena Giudice Dec 2025

Alternative Splicing Of The Snap23 Microexon Is Regulated By Mbnl, Qki, And Rbfox2 In A Tissue-Specific Manner And Is Altered In Striated Muscle Diseases, Gabrielle M Gentile, R Eric Blue, Grant A Goda, Bryan B Guzman, Rachel A Szymanski, Eunice Y Lee, Nichlas M Engels, Emma R Hinkle, Hannah J Wiedner, Aubriana N Bishop, Jonathan T Harrison, Hua Zhang, Xander H T Wehrens, Daniel Dominguez, Jimena Giudice

Faculty, Staff and Students Publications

The reprogramming of alternative splicing networks during development is a hallmark of tissue maturation and identity. Alternative splicing of microexons (small, genomic regions ≤ 51 nucleotides) functionally regulate protein-protein interactions in the brain and is altered in several neuronal diseases. However, little is known about the regulation and function of alternatively spliced microexons in striated muscle. Here, we investigated alternative splicing of a microexon in the synaptosome-associated protein 23 (Snap23) encoded gene. We found that inclusion of this microexon is developmentally regulated and tissue-specific, as it occurs exclusively in adult heart and skeletal muscle. The alternative region is …


Modeling Reemergence Of Vaccine-Eliminated Infectious Diseases Under Declining Vaccination In The United States, Mathew V Kiang, Kate M Bubar, Yvonne Maldonado, Peter J Hotez, Nathan C Lo Dec 2025

Modeling Reemergence Of Vaccine-Eliminated Infectious Diseases Under Declining Vaccination In The United States, Mathew V Kiang, Kate M Bubar, Yvonne Maldonado, Peter J Hotez, Nathan C Lo

Faculty, Staff and Students Publications

(Abstracted from JAMA 2025;333(24):2176-2187) The development of childhood vaccine protocols has led to the elimination of many infectious diseases from the United States, including measles, rubella, diphtheria, and polio, by maintaining herd immunity. In recent years, especially since the COVID-19 pandemic, vaccination rates have declined due to policy changes, misinformation, distrust, and broader societal shifts.


A Review Of The Efficacy Of Complementary And Alternative Medicines In Managing Dermatologic Infectious Diseases, Promise Ufomadu, Bartley Joseph Gill, Ikue Shimizu, Ida Orengo, Theodore Rosen Dec 2025

A Review Of The Efficacy Of Complementary And Alternative Medicines In Managing Dermatologic Infectious Diseases, Promise Ufomadu, Bartley Joseph Gill, Ikue Shimizu, Ida Orengo, Theodore Rosen

Faculty, Staff and Students Publications

Dermatologic infections, particularly fungal and viral, are globally prevalent and often lead patients to seek complementary and alternative medicines (CAMs). This review critically evaluates 17 studies investigating CAM efficacy in treating dermatologic infectious diseases, focusing on those evaluated in randomized controlled trials (RCTs). Tea tree oil shows modest benefit for fungal infections such as tinea pedis and onychomycosis, though studies are limited by poor blinding and dropout rates. For herpes simplex virus (HSV), propolis and Melissa officinalis demonstrate potential antiviral effects, but findings are limited by subjective outcomes and industry sponsorship. Green tea extract (polyphenon E) shows efficacy in treating …


Unmasking Hidden Clues In Cutaneous Viral Infections: Histopathological Insights Into Keratinocytic Features Of Herpes Simplex Virus, Varicella Zoster Virus, And Molluscum Contagiosum, Tania Platero Portillo, Dilshad Dhaliwal, Sepideh Mehravaran, Megan Ketcham, Julie Wu, Nisha Ramani, Abdul Hafeez Diwan Dec 2025

Unmasking Hidden Clues In Cutaneous Viral Infections: Histopathological Insights Into Keratinocytic Features Of Herpes Simplex Virus, Varicella Zoster Virus, And Molluscum Contagiosum, Tania Platero Portillo, Dilshad Dhaliwal, Sepideh Mehravaran, Megan Ketcham, Julie Wu, Nisha Ramani, Abdul Hafeez Diwan

Faculty, Staff and Students Publications

Objective: This case study aimed to explore primarily the keratinocytic changes of cutaneous viral infections caused by herpes simplex virus (HSV), varicella-zoster virus (VZV), and molluscum contagiosum (MC). The focus was on identifying features and diagnostic clues in cases without typical findings.

Methods: A retrospective analysis encompassing 14 HSV/VZV cases (January 2000 to October 2023) and 22 MC cases (January 2013 to December 2015) was conducted.

Results: In HSV/VZV cases, 71% (10 of 14) exhibited distinctive histopathological features in the adjacent keratinocytes, including nucleolar enlargement and atypical features. Immunohistochemical studies in 40% of the cases (4 of 10) revealed positive …


Patient-Centered Communication Case: Threatened Miscarriage, Anita Rohra, Daniela Ortiz, Shagun Berry, Colleen Donovan, Nicole Novotny, Stephanie Cohen, Charles Lei, Alaa Aldalati, Stephanie Stapleton, David Fernandez Dec 2025

Patient-Centered Communication Case: Threatened Miscarriage, Anita Rohra, Daniela Ortiz, Shagun Berry, Colleen Donovan, Nicole Novotny, Stephanie Cohen, Charles Lei, Alaa Aldalati, Stephanie Stapleton, David Fernandez

Faculty, Staff and Students Publications

Audience: This communication case is intended for EM residents of all levels.

Introduction: Patient-centered communication is a necessary skill in the practice of emergency medicine. This style of communication is crucial for promoting high-quality healthcare by prioritizing patient needs, perspectives, and values. This patient-centered communication case centers on miscarriage, a diagnosis where patient-centered communication is requisite. Approximately one in six or 17.1% of patients with a final diagnosis of miscarriage, also known as early pregnancy loss, present initially to the emergency department.1 Advising a patient of the diagnosis of miscarriage requires excellent communication skills including facile rapport building, empathy, nonverbal …


Difficult Conversation Case: Death Notification, Charles Lei, Tiffany Moadel, Suzanne Bentley, Amrita Vempati, David Fernandez, Daniela Ortiz, Anita Rohra, Stephanie Stapleton, Hillary Moss Dec 2025

Difficult Conversation Case: Death Notification, Charles Lei, Tiffany Moadel, Suzanne Bentley, Amrita Vempati, David Fernandez, Daniela Ortiz, Anita Rohra, Stephanie Stapleton, Hillary Moss

Faculty, Staff and Students Publications

Audience: This case is meant for senior emergency medicine (EM) resident physicians as a preparatory tool for the American Board of Emergency Medicine Certifying Exam. However, it is applicable for EM residents at all levels of training.

Introduction: Difficult conversations are an integral part of the practice of emergency medicine. Competent EM physicians routinely engage in challenging conversations with patients and their families (eg, delivering bad news, disclosing medical errors, providing death notifications).1 Despite their importance, communication skills are often not formally taught in residency training.2 Instead, learners frequently rely on role modeling to develop the skills necessary to navigate …


Derivation Of Pluripotent Stem Cell Lines (Rfsci005-A, Rfsci006-A) From Siblings Harboring Identical High-Risk Complement Variants With Discordant Age-Related Macular Degeneration, Naresh Rajendran, Ajeet Singh, Wendy Runyon, Sam Hu, Ritu Kumar, Rinki Ratnapriya, Karl Csaky, Srinivasa R Sripathi Dec 2025

Derivation Of Pluripotent Stem Cell Lines (Rfsci005-A, Rfsci006-A) From Siblings Harboring Identical High-Risk Complement Variants With Discordant Age-Related Macular Degeneration, Naresh Rajendran, Ajeet Singh, Wendy Runyon, Sam Hu, Ritu Kumar, Rinki Ratnapriya, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.


Hemophagocytic Lymphohistiocytosis In A Pediatric Lung Transplant Recipient, Sunil Chickmagalur, Anna Schrader, Dallas Parrish, David Moreno Mcneill, Maria C Gazzaneo, Ernestina Melicoff-Portillo, Nahir Cortes-Santiago Dec 2025

Hemophagocytic Lymphohistiocytosis In A Pediatric Lung Transplant Recipient, Sunil Chickmagalur, Anna Schrader, Dallas Parrish, David Moreno Mcneill, Maria C Gazzaneo, Ernestina Melicoff-Portillo, Nahir Cortes-Santiago

Faculty, Staff and Students Publications

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare complication of solid organ transplantation and is a syndrome of systemic hyperinflammation secondary to dysregulation of the inflammatory response, primarily involving lymphocytes and macrophages. It is often fatal and therefore early recognition and treatment are crucial. Among 11 adult cases of HLH in post-lung transplant cases found in the literature, only one patient survived.

Case: We report the first known pediatric case of HLH following lung transplantation. The patient, a previously healthy adolescent, developed end-stage bullous lung disease secondary to acute respiratory distress syndrome (ARDS) and underwent bilateral lung transplantation. Two months posttransplant, …


Cerebellar Purkinje Cell Stripe Patterns Reveal A Differential Vulnerability And Resistance To Cell Loss During Normal Aging In Mice, Sarah G Donofrio, Cheryl Brandenburg, Amanda M Brown, Tao Lin, Hsiang-Chih Lu, Roy V Sillitoe Dec 2025

Cerebellar Purkinje Cell Stripe Patterns Reveal A Differential Vulnerability And Resistance To Cell Loss During Normal Aging In Mice, Sarah G Donofrio, Cheryl Brandenburg, Amanda M Brown, Tao Lin, Hsiang-Chih Lu, Roy V Sillitoe

Faculty, Staff and Students Publications

Age-related neurodegenerative diseases involve reduced cell numbers and impaired behavioral capacity. Neurodegeneration and behavioral deficits also occur during aging, and notably in the absence of disease. The cerebellum, which modulates movement and cognition, is susceptible to cell loss in both aging and disease. Here, we demonstrate that cerebellar Purkinje cell loss in aged mice is not spatially random but rather occurs in a pattern of parasagittal stripes. We also find that aged mice exhibit impaired motor coordination and more severe tremor compared to younger mice. However, the relationship between patterned Purkinje cell loss and motor dysfunction is not straightforward. Examination …


Insecticide-Treated Net Use And Elimination Of Malaria In Sub-Saharan African Countries: Assessing The Global Technical Strategy Using An Evolutionary Game Approach, Laxmi, Tamer Oraby, Michael G. Tyshenko, Ina Danquah, Samit Bhattacharyya Dec 2025

Insecticide-Treated Net Use And Elimination Of Malaria In Sub-Saharan African Countries: Assessing The Global Technical Strategy Using An Evolutionary Game Approach, Laxmi, Tamer Oraby, Michael G. Tyshenko, Ina Danquah, Samit Bhattacharyya

School of Mathematical & Statistical Sciences Faculty Publications

Background: Malaria continues to be a major public health challenge in Sub-Saharan Africa (SSA), where the majority of the countries have not met the World Health Assembly's endorsed Global Technical Strategy (GTS) milestones in 2020 for malaria reduction. Insecticide-treated net (ITN) usage is a well-established and effective intervention, often outperforming other measures such as indoor residual spraying (IRS). However, multiple survey studies have reported improper use of ITNs across various SSA countries. This misuse likely poses an important barrier to the intervention's success, although it remains a largely untested hypothesis.

Methods: We developed a behaviour-incidence model and statistical analysis of …


Plasma Metabolomic And Proteomic Signatures Of Blood Pressure Management After Bariatric Surgery Among Adolescents, Shudi Pan, Zhenjiang Li, Juan Pablo Lewinger, Jesse A Goodrich, Hongxu Wang, Sarah Rock, Carmen Chen, Todd M Jenkins, Stephanie Sisley, Stephen R Daniels, Douglas I Walker, Max T Aung, Erika Garcia, Rob Mcconnell, Sandrah P Eckel, Michele A La Merrill, Tanya L Alderete, Zhuanghua Chen, Frank D Gilliland, Thomas H Inge, David V Conti, Justin R Ryder, Lida Chatzi Dec 2025

Plasma Metabolomic And Proteomic Signatures Of Blood Pressure Management After Bariatric Surgery Among Adolescents, Shudi Pan, Zhenjiang Li, Juan Pablo Lewinger, Jesse A Goodrich, Hongxu Wang, Sarah Rock, Carmen Chen, Todd M Jenkins, Stephanie Sisley, Stephen R Daniels, Douglas I Walker, Max T Aung, Erika Garcia, Rob Mcconnell, Sandrah P Eckel, Michele A La Merrill, Tanya L Alderete, Zhuanghua Chen, Frank D Gilliland, Thomas H Inge, David V Conti, Justin R Ryder, Lida Chatzi

Faculty, Staff and Students Publications

Background: Emerging omics approaches, including metabolomics and proteomics, can be integrated into obesity treatment for better blood pressure management. We tested whether preoperative metabolomic and proteomic profiles predict long-term elevated blood pressure (EBP) changes better than known risk factors in adolescents undergoing bariatric surgery.

Methods: We included 108 participants from the Teen-LABS (Teen-Longitudinal Assessment of Bariatric Surgery). Plasma untargeted metabolomics (via liquid chromatography with high-resolution mass spectrometry) and Olink proteomics were assessed pre surgery. An elastic net model with stability selection was used to identify features predictive of EBP reductions 5 years post surgery. Models including identified metabolites, proteins, and …


Publisher Correction: Piezo1 Regulates Meningeal Lymphatic Vessel Drainage And Alleviates Excessive Csf Accumulation, Dongwon Choi, Eunkyung Park, Joshua Choi, Renhao Lu, Jin Suh Yu, Chiyoon Kim, Luping Zhao, James Yu, Brandon Nakashima, Sunju Lee, Dhruv Singhal, Joshua P Scallan, Bin Zhou, Chester J Koh, Esak Lee, Young-Kwon Hong Dec 2025

Publisher Correction: Piezo1 Regulates Meningeal Lymphatic Vessel Drainage And Alleviates Excessive Csf Accumulation, Dongwon Choi, Eunkyung Park, Joshua Choi, Renhao Lu, Jin Suh Yu, Chiyoon Kim, Luping Zhao, James Yu, Brandon Nakashima, Sunju Lee, Dhruv Singhal, Joshua P Scallan, Bin Zhou, Chester J Koh, Esak Lee, Young-Kwon Hong

Faculty, Staff and Students Publications

No abstract provided.


Decreasing Barriers To The Utilization Of Cryopreserved Sperm In Male Cancer Survivors: An Expert Review And Guide, Megan V Alexander, Hailie Ciomperlik, Anna Claire Reynolds, Allyson Nevins, Luwam Ghidei, Jordan Kassab, Kevin Campbell, John Sullivan, Michael D Jochum, Laura Detti, Terri L Woodard, Larry I Lipshultz, Laurie J Mckenzie Dec 2025

Decreasing Barriers To The Utilization Of Cryopreserved Sperm In Male Cancer Survivors: An Expert Review And Guide, Megan V Alexander, Hailie Ciomperlik, Anna Claire Reynolds, Allyson Nevins, Luwam Ghidei, Jordan Kassab, Kevin Campbell, John Sullivan, Michael D Jochum, Laura Detti, Terri L Woodard, Larry I Lipshultz, Laurie J Mckenzie

Faculty, Staff and Students Publications

Background: Sperm cryopreservation offers male cancer patients a critical opportunity to preserve fertility prior to gonadotoxic therapy, yet utilization of banked sperm remains modest, typically under 10%. A structured understanding of barriers across the cancer survivorship continuum is needed to support patients in utilization of cryopreserved sperm in alignment with their reproductive goals.

Materials and methods: This expert review synthesizes current evidence and clinical experience to explore the multifaceted barriers to cryopreserved sperm use and propose specific solutions. Key intervention timepoints are examined, including the post-treatment fertility return visit, long-term cryopreservation while remote from family building, readiness for family building, …


Implications Of Cooccurring Adhd For The Cognitive Behavioural Treatment Of Anxiety In Autistic Children, Elise Ng-Cordell, Eric A Storch, Philip C Kendall, Jeffrey J Wood, Amori Yee Mikami, Connor M Kerns Dec 2025

Implications Of Cooccurring Adhd For The Cognitive Behavioural Treatment Of Anxiety In Autistic Children, Elise Ng-Cordell, Eric A Storch, Philip C Kendall, Jeffrey J Wood, Amori Yee Mikami, Connor M Kerns

Faculty, Staff and Students Publications

Background: Childhood mental health conditions commonly cooccur, with potential treatment implications. Autistic children frequently experience anxiety and attention deficit/hyperactivity disorder (ADHD). We investigated the implications of this cooccurrence for Cognitive Behavioural Therapy (CBT), a front-line treatment for anxiety in autistic children. We tested whether (1) ADHD predicts anxiety treatment response, (2) ADHD improves in response to anxiety treatment and (3) ADHD improvement is related to reductions in anxiety.

Method: Autistic children with elevated anxiety (N = 167) enrolled in a multisite, randomised controlled trial comparing standard CBT, autism-adapted CBT and treatment as usual. ADHD symptoms and severity were assessed via …


How Well Can Commonly Used Anxiety Scales Detect Treatment Outcomes In The Context Of Autism?, Huilin Chen, Jeffrey J Wood, Connor M Kerns, Eric A Storch, Philip C Kendall, Gaia Scerif, Cathy Creswell Dec 2025

How Well Can Commonly Used Anxiety Scales Detect Treatment Outcomes In The Context Of Autism?, Huilin Chen, Jeffrey J Wood, Connor M Kerns, Eric A Storch, Philip C Kendall, Gaia Scerif, Cathy Creswell

Faculty, Staff and Students Publications

Anxiety is one of the most prevalent mental health challenges in autistic children, yet there is limited evidence on effective tools to measure treatment outcomes. Previous research with non-autistic children has found that the Child Anxiety Impact Scale, Parent Version achieved good diagnostic accuracy when measuring treatment outcomes and performed better than a commonly used symptom measure. However, this has not been evaluated for autistic children. The present study examined the psychometric properties of the Child Anxiety Impact Scale, Parent Version in autistic children and compared its utility against other anxiety symptom measures, to detect treatment outcomes as assessed by …


Clinical Exome Sequencing Efficacy And Phenotypic Expansions Involving Non-Isolated Congenital Anomalies Of Kidney And Urinary Tract (Cakut+), E Andres Rivera-Munoz, Xiaonan E Zhao, Jill A Rosenfeld, Pamela N Luna, Chad A Shaw, Jennifer E Posey, Daryl A Scott Dec 2025

Clinical Exome Sequencing Efficacy And Phenotypic Expansions Involving Non-Isolated Congenital Anomalies Of Kidney And Urinary Tract (Cakut+), E Andres Rivera-Munoz, Xiaonan E Zhao, Jill A Rosenfeld, Pamela N Luna, Chad A Shaw, Jennifer E Posey, Daryl A Scott

Faculty, Staff and Students Publications

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) can occur in isolation or in conjunction with one or more non-CAKUT associated congenital anomalies or neurodevelopmental disorders (CAKUT+). A molecular cause is not identified in most individuals with CAKUT+. This is due, in part, to uncertainty regarding the efficacy of genetic testing and an incomplete understanding of the genes that cause CAKUT+. Here, we use data from 515 individuals with CAKUT+ (n = 500) or isolated CAKUT (n = 15) to determine the efficacy of clinical exome sequencing (cES) and to identify new phenotype expansions that involve CAKUT. We determined that …


Genetics Services In Latin America: A Descriptive Study Of Availability And Utilization Of Genetics In Healthcare, Ryan J German, Erin Atkinson, Eric A Storch, Claudia Soler-Alfonso, Sonia Margarit, Philip J Lupo, Stacey Pereira Dec 2025

Genetics Services In Latin America: A Descriptive Study Of Availability And Utilization Of Genetics In Healthcare, Ryan J German, Erin Atkinson, Eric A Storch, Claudia Soler-Alfonso, Sonia Margarit, Philip J Lupo, Stacey Pereira

Faculty, Staff and Students Publications

Genetic services are expanding globally, but access remains limited in low-resource regions such as Latin America. Understanding current service availability, barriers, and facilitators is critical to guide capacity building and improve patient care. We conducted a cross-sectional survey of healthcare professionals providing genetic services in Latin America. The survey, available in Spanish and English, assessed genetic services, referral patterns, testing availability, barriers, facilitators, and perceived needs. Descriptive statistics summarized quantitative data, and thematic analysis was applied to open-ended responses. Eighty-five respondents from 18 countries reported broad clinical activity across pediatric, cancer, and adult-onset genetic conditions. Commonly ordered tests included karyotype, …


Fibroblasts Are The Primary Contributors To A Disrupted Micro-Environment In End-Stage Pediatric Hypertrophic Cardiomyopathy, Hanna J Tadros, Diwakar Turaga, Yi Zhao, Chang-Ru Tsai, Iki A Adachi, Xiao Li, James F Martin Dec 2025

Fibroblasts Are The Primary Contributors To A Disrupted Micro-Environment In End-Stage Pediatric Hypertrophic Cardiomyopathy, Hanna J Tadros, Diwakar Turaga, Yi Zhao, Chang-Ru Tsai, Iki A Adachi, Xiao Li, James F Martin

Faculty, Staff and Students Publications

Background: Hypertrophic cardiomyopathy (HCM) is a relatively rare but debilitating diagnosis in the pediatric population, and patients with end-stage HCM require heart transplantation. Here, we have examined the transcriptome in ventricular tissue from this patient group to identify cell states and underlying cellular processes unique to pediatric HCM.

Methods: We performed single-nucleus RNA sequencing (snRNA-seq) on explanted hearts at transplant in 3 pediatric patients with end-stage HCM and compared findings to pediatric control and adult HCM.

Results: We identified distinct underlying cellular processes in cardiomyocytes, fibroblasts, endothelial cells, and myeloid cells compared with controls. Pediatric HCM was enriched in cardiomyocytes …


The Neonatal Gut Microbiome In Health And Disease, Geoffrey A Preidis Dec 2025

The Neonatal Gut Microbiome In Health And Disease, Geoffrey A Preidis

Faculty, Staff and Students Publications

No abstract provided.


Case Presentation: 40 Year-Old Female With Chronic Neck And Low Back Pain, Chloe Nilles Dec 2025

Case Presentation: 40 Year-Old Female With Chronic Neck And Low Back Pain, Chloe Nilles

Aurora GME

No abstract provided.


A Decade Of Knowledge Without Borders: Open Access And Global Reach Of School Social Work Research, Leticia Villarreal Sosa Dec 2025

A Decade Of Knowledge Without Borders: Open Access And Global Reach Of School Social Work Research, Leticia Villarreal Sosa

School of Social Work Faculty Publications

As we celebrate the 10th anniversary of the International Journal for School Social Work (IJSSW), this article provides a reflection on a decade the last decade of breaking barriers and building bridges across practitioners, researchers, communities, and continents and looks forward to our responsibility for the future. This article discusses the benefits and challenges related to Open Access publishing, and addresses how Open Access is a public good—ensuring that practitioners, researchers, students, and policymakers can engage the best evidence regardless of geography, resources, or institutional affiliation. The impact of IJSSW is reviewed, including a summary of accomplishments, most downloaded …


Frequency, Duration, And Cost Of Pulmonary Exacerbations Among Patients With Bronchiectasis, Maitreyee Mohanty, Claudia Leiras, Haiyan Sun, Reina Rau, John Fastenau, Joseph Feliciano, Sunjay R Devarajan Dec 2025

Frequency, Duration, And Cost Of Pulmonary Exacerbations Among Patients With Bronchiectasis, Maitreyee Mohanty, Claudia Leiras, Haiyan Sun, Reina Rau, John Fastenau, Joseph Feliciano, Sunjay R Devarajan

Faculty, Staff and Students Publications

Background: In administrative claims database studies of bronchiectasis, pulmonary exacerbations are usually defined using a fixed period for their start and end, which prevents assessment of exacerbation duration and thereby limits assessment of exacerbation characteristics. Here, we applied a novel cost-based algorithm to characterize exacerbations.

Methods: This cohort study used the Merative MarketScan Commercial Claims and Encounters database, 1-Jan-2016 to 31-Dec-2022. Patients ≥18 years with bronchiectasis (≥2 outpatient or ≥1 inpatient claim with bronchiectasis; no cystic fibrosis) had 12 months of continuous enrollment before (baseline) and ≥12 months after (follow-up) index (first bronchiectasis claim). Cost-based exacerbations were identified by compound …


Feasibility Of Expiratory Muscle Strength Training In Individuals With Progressive Supranuclear Palsy, Katya Villarreal-Cavazos, James C Borders, James A Curtis, Jordanna S Sevitz, Nora Vanegas-Arroyave, Michelle S Troche Dec 2025

Feasibility Of Expiratory Muscle Strength Training In Individuals With Progressive Supranuclear Palsy, Katya Villarreal-Cavazos, James C Borders, James A Curtis, Jordanna S Sevitz, Nora Vanegas-Arroyave, Michelle S Troche

Faculty, Staff and Students Publications

Introduction: Dysphagia is common among individuals with Progressive Supranuclear Palsy (PSP). Expiratory muscle strength training (EMST) is a treatment used to increase expiratory muscle force production for airway protection deficits. To our knowledge, no studies have tested EMST in this population. The objective of this study was to determine the feasibility of EMST in individuals with PSP.

Methods: Twenty-nine participants completed baseline measures of maximum expiratory pressure and underwent a trial session of EMST. EMST was considered feasible if participants were able to complete at least 10 repetitions at 30% of their maximum expiratory pressure. Qualitative analyses were also completed …


Exploration Of Zileuton Protective Mechanisms Against Vancomycin-Associated Nephrotoxicity, Cole S Hudson, James E Smith, Rongjin Sun, Linh T Vuong, Luan D Truong, David Sheikh-Hamad, Masayuki Nigo, Ming Hu, Vincent H Tam Dec 2025

Exploration Of Zileuton Protective Mechanisms Against Vancomycin-Associated Nephrotoxicity, Cole S Hudson, James E Smith, Rongjin Sun, Linh T Vuong, Luan D Truong, David Sheikh-Hamad, Masayuki Nigo, Ming Hu, Vincent H Tam

Faculty, Staff and Students Publications

Vancomycin is one of the most commonly used parenteral antibiotics for treating drug-resistant bacterial infections, however, it is hindered by nephrotoxicity. We previously demonstrated that zileuton could delay the onset of vancomycin-associated nephrotoxicity in rats. Here, we sought to understand the mechanism(s) of zileuton renal protection. Sprague-Dawley rats were administered vancomycin (200 mg/kg) and zileuton (1 and 4 mg/kg) daily for 10 days. After 3 days, kidneys were collected from select animals for histopathological analysis of renal injury. Single-dose vancomycin serum pharmacokinetics and renal tissue spatial distribution with adjuvant zileuton were evaluated. In vitro, proximal tubular cells were exposed …