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Novel Variants Identified In Families With Snx27 -Related Neurodevelopmental Disorder, Aiding In Characterizing Its Genotypic And Phenotypic Spectrum, Mulazim Hussain, Yumei Li, Hafiz Muhammad Jafar Hussain, Kiran Afshan, Suzanne M Leal, Rui Chen, Asif Mir, Isabelle Schrauwen, Sabika Firasat Apr 2026

Novel Variants Identified In Families With Snx27 -Related Neurodevelopmental Disorder, Aiding In Characterizing Its Genotypic And Phenotypic Spectrum, Mulazim Hussain, Yumei Li, Hafiz Muhammad Jafar Hussain, Kiran Afshan, Suzanne M Leal, Rui Chen, Asif Mir, Isabelle Schrauwen, Sabika Firasat

Faculty, Staff and Students Publications

Background:

Sorting Nexin 27 (SNX27), a key regulator of synaptic receptor trafficking and endosomal recycling, has been implicated in maintaining synaptic homeostasis and cognitive function. To date, variants in SNX27 have been reported in a small number of patients across three publications with severe neurodevelopmental phenotypes. However, the genetic and functional landscape of SNX27-related disorders remains poorly understood, and further evidence is needed to confirm its association with disease and to better delineate the associated phenotype.

Methods and Results:

Two unrelated Pakistani families with a total of five affected individuals segregating a neurodevelopmental disorder were investigated via exome …


Kidney Disease And Heart Failure: Recent Advances And Current Challenges: Conclusions From A Kidney Disease: Improving Global Outcomes (Kdigo) Controversies Conference, Justin A Ezekowitz, Meg J Jardine, Sadiya S Khan, Magdalena Madero, Mark J Sarnak, Jozine M Ter Maaten, Michael Cheung, Jennifer M King, Morgan E Grams, Michel Jadoul, Nisha Bansal Apr 2026

Kidney Disease And Heart Failure: Recent Advances And Current Challenges: Conclusions From A Kidney Disease: Improving Global Outcomes (Kdigo) Controversies Conference, Justin A Ezekowitz, Meg J Jardine, Sadiya S Khan, Magdalena Madero, Mark J Sarnak, Jozine M Ter Maaten, Michael Cheung, Jennifer M King, Morgan E Grams, Michel Jadoul, Nisha Bansal

Faculty, Staff and Students Publications

Heart failure (HF) and chronic kidney disease (CKD) frequently coexist, which elevates the risks of hospitalization, disease progression, and death. Despite advances in treating each condition independently, many challenges remain in diagnosing and managing them in combination. In March 2024, Kidney Disease: Improving Global Outcomes (KDIGO) held the Controversies Conference on Kidney Disease and Heart Failure: Recent Advances and Current Challenges. Discussions highlighted the complex, bidirectional relationship between HF and CKD, including shared risk factors and overlapping pathophysiology as well as nuances in interpreting biomarkers such as natriuretic peptides and serum creatinine. Sodium-glucose cotransporter-2 inhibitors, renin-angiotensin-aldosterone system inhibitors, and emerging …


Utility Of Diagnostic Arthroscopy Before Medial Patellofemoral Ligament Reconstruction In Pediatric And Adolescent Patients Without Articular Findings On Magnetic Resonance Imaging, Scott D Mckay, Indranil Kushare Apr 2026

Utility Of Diagnostic Arthroscopy Before Medial Patellofemoral Ligament Reconstruction In Pediatric And Adolescent Patients Without Articular Findings On Magnetic Resonance Imaging, Scott D Mckay, Indranil Kushare

Faculty, Staff and Students Publications

BACKGROUND: Medial patellofemoral ligament (MPFL) reconstruction is frequently used to manage recurrent patellar instability. Diagnostic arthroscopy is commonly performed before MPFL reconstruction to identify, confirm, and address intra-articular pathology. However, when preoperative magnetic resonance imaging (MRI) does not demonstrate intra-articular lesions, it is unclear how often diagnostic arthroscopy in pediatric patients alters surgical management.

PURPOSE: To determine the utility of diagnostic arthroscopy in young patients undergoing MPFL reconstruction who had no intra-articular chondral or osteochondral pathology, meniscal tears, or loose bodies identified on preoperative MRI, and to characterize intra-articular pathology detected on arthroscopy but not identified on MRI.

STUDY DESIGN: …


Development And Internal Validation Of A Pretransplant Biomarker Panel For Mortality Prediction Following Liver Transplant, Duc T Nguyen, Edward A Graviss, Yong Qin, Anastasia Xynogala, Tumininu Ayorinde, Laurie J Minze, Alexander Lemenze, Krupa R Mysore, Julie M Corkrean, Linda W Moore, Flavio Paterno, Ashish Saharia, Constance M Mobley, Arpit Amin, Mark J Hobeika, Xian C Li, Paul J Gaglio, R Mark Ghobrial, James V Guarrera, Keri E Lunsford Apr 2026

Development And Internal Validation Of A Pretransplant Biomarker Panel For Mortality Prediction Following Liver Transplant, Duc T Nguyen, Edward A Graviss, Yong Qin, Anastasia Xynogala, Tumininu Ayorinde, Laurie J Minze, Alexander Lemenze, Krupa R Mysore, Julie M Corkrean, Linda W Moore, Flavio Paterno, Ashish Saharia, Constance M Mobley, Arpit Amin, Mark J Hobeika, Xian C Li, Paul J Gaglio, R Mark Ghobrial, James V Guarrera, Keri E Lunsford

Faculty, Staff and Students Publications

Importance: Current pretransplant clinical scoring systems fail to accurately estimate post-liver transplant (LT) survival, making recipient selection challenging. Persistent immune dysfunction contributes to early LT recipient mortality but is not captured by existing models.

Objective: To identify plasma biomarkers of pretransplant immune dysfunction and to develop a biomarker-based pre-LT risk stratification tool to predict post-LT mortality.

Design, setting, and participants: Prospective biomarker analysis of consecutively enrolled adult LT recipients was conducted. Healthy controls were included for baseline comparison. Patients undergoing LT at Houston Methodist Hospital (October 1, 2013, to December 31, 2017) and Rutgers/University Hospital (January 1, 2019, to March …


Aht Diagnoses: The Influences Of Clinical Presentation And Evidence Of Impact, Kristine Campbell, Lori Frasier, Christopher Greeley, Danielle Horton, Nicole Johnson, Jan Leonard, Megan M Letson, Caitlin Mcnamara, Ashley Sherman, Shalon Nienow, Stuart Sommers, Joanne N Wood, James Anderst Apr 2026

Aht Diagnoses: The Influences Of Clinical Presentation And Evidence Of Impact, Kristine Campbell, Lori Frasier, Christopher Greeley, Danielle Horton, Nicole Johnson, Jan Leonard, Megan M Letson, Caitlin Mcnamara, Ashley Sherman, Shalon Nienow, Stuart Sommers, Joanne N Wood, James Anderst

Faculty, Staff and Students Publications

Background: The frequency of abusive head trauma (AHT) diagnoses by child abuse pediatricians (CAPs), especially regarding external evidence of head impact, has been questioned.

Objectives: To compare CAP diagnoses in subjects with subdural hemorrhage (SDH) across clinical presentations, including subgroups with and without external evidence of head impact. Additionally, we aimed to describe subjects with SDH and concomitant suspicious injuries (CSI) without evidence of head impact.

Participants and setting: Multicenter retrospective study including subjects < 24 months old with SDH.

Methods: Subjects were divided into groups based on clinical presentations: Ill SDH only, Non-ill SDH only, and SDH + CSI. Groups were subcategorized based on presence/absence …


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

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

Faculty, Staff and Students Publications

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

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

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

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

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


Confessions In Cases Of Child Physical Abuse-A Capnet Study, Suzanne P Starling, Joanne N Wood, Daniel M Lindberg, Nancy S Harper, Caitlin R Mcnamara, Angela N Bachim, Farah W Brink, Lori D Frasier, James D Anderst, Porcia Vaughn, Kristine A Campbell Apr 2026

Confessions In Cases Of Child Physical Abuse-A Capnet Study, Suzanne P Starling, Joanne N Wood, Daniel M Lindberg, Nancy S Harper, Caitlin R Mcnamara, Angela N Bachim, Farah W Brink, Lori D Frasier, James D Anderst, Porcia Vaughn, Kristine A Campbell

Faculty, Staff and Students Publications

Objective: Prior research on confessions of physical abuse (PA) has explored mechanisms of injury. Little is known about conditions supporting a confession of abuse or how confessions may influence case outcomes.

Methods: This cross-sectional study of suspected PA in children aged < 10 years at 10 centers participating in CAPNET, a multicenter child PA research network, included children with in-person Child Abuse Pediatrics (CAP) consultations between February 2021 and December 2022 and excluded children without injury. Our focus was a confession of inflicted injury known to the CAP during clinical involvement. We compared child and clinical characteristics, out-of-home (OOH) placements, and arrests between cases with and without confessions. Multivariable models using generalized estimating equations (GEE) produced adjusted predicted probabilities (APP) clustering by CAPNET site.

Results: Confessions were known to CAPs in 115/4297 (2.7%) cases, with significant site variability. In a multivariable GEE model, confessions were more likely in cases with injuries with high specificity for abuse (APP 6.0% vs 1.6%, P < .001), near-fatality (APP 5.6% vs 2.3%, P < .001), and older children (APP 4.8% vs 2.5%, P = .025). OOH placements and arrests were more common in cases with confessions. CAP awareness of confessions, OOH placements, and arrests did not follow racial or ethnic patterns seen in the US child welfare system. Lower socioeconomic status was associated with OOH placements and arrests but not with CAP awareness of confessions.

Conclusions: Our findings highlight differences in case characteristics and outcomes where a confession is known to the CAP and raise questions about …


The Association Between Physical Activity, Sedentary Time, And Sleep With Risk Of Hepatocellular Carcinoma In Patients With Cirrhosis, Hao Duong, Laith Elserag, Amit G Singal, Nicole E Rich, Saira Khaderi, Sumeet K Asrani, Hashem B El-Serag, Aaron P Thrift Apr 2026

The Association Between Physical Activity, Sedentary Time, And Sleep With Risk Of Hepatocellular Carcinoma In Patients With Cirrhosis, Hao Duong, Laith Elserag, Amit G Singal, Nicole E Rich, Saira Khaderi, Sumeet K Asrani, Hashem B El-Serag, Aaron P Thrift

Faculty, Staff and Students Publications

Background: The majority of hepatocellular carcinoma (HCC) cases arise in patients with cirrhosis, with known major risk factors of hepatitis B (HBV) or C (HCV) infection, metabolic dysfunction-associated steatotic liver disease (MASLD), and alcohol-associated liver disease (ALD). However, the impact of additional risk factors that act independently or jointly on the pathogenesis of HCC in cirrhosis patients is unknown. The aim of this study was to determine whether sleep, sedentariness, or physical activity levels play a role in the progression of cirrhosis to HCC.

Methods: We systematically collected data on sleep, sedentary time, and physical activity from the ongoing prospective …


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

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

Faculty, Staff and Students Publications

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


Concerns Regarding The Efficacy Of Utilizing The Vibrational Response Of Aminocyanine Molecules To Near Infrared Light For Cancer Cell Destruction, Parsa Faghani-Eskandarkolaei, James Welsh, Seyed Ali Reza Mortazavi, Parmis Taghizadeh, Mobina Baramaki, Fatemeh Shams, Mohammed Nasir Abubakari, Seyed Mohammad Javad Mortazavi, Lembit Sihver Apr 2026

Concerns Regarding The Efficacy Of Utilizing The Vibrational Response Of Aminocyanine Molecules To Near Infrared Light For Cancer Cell Destruction, Parsa Faghani-Eskandarkolaei, James Welsh, Seyed Ali Reza Mortazavi, Parmis Taghizadeh, Mobina Baramaki, Fatemeh Shams, Mohammed Nasir Abubakari, Seyed Mohammad Javad Mortazavi, Lembit Sihver

Informatics and Engineering Systems Faculty Publications

Recent advancements in cancer treatment have introduced the use of aminocyanine molecules, activated by near-infrared (NIR) light, to induce vibrational responses that can selectively destroy cancer cells. This commentary critically examines a study that reports a 99% efficacy of this method against human melanoma cells in vitro, and significant tumor reduction in murine models. While the findings are promising, our analysis highlights crucial oversights in the study’s implications for clinical applications. Specifically, the persistence of even a small fraction of cancer cells post-treatment poses significant risks for tumor regrowth and acquired resistance. Additionally, the study’s approach neglects the heterogeneity of …


Factors Associated With Child Protective Services Referrals In Young Children With Isolated Skull Fractures., Karli Breeden-Carino, Joanne N. Wood, Cindy W. Christian, Tagrid M. Ruiz-Maldonado, Daniel M. Lindberg, Angela Bachim, Lori Frasier, Terra N. Frazier, Nancy S. Harper, Sara E. Kruczek, Farah Brink, Jennifer E. Wolford, Jan Leonard, M Katherine Henry Apr 2026

Factors Associated With Child Protective Services Referrals In Young Children With Isolated Skull Fractures., Karli Breeden-Carino, Joanne N. Wood, Cindy W. Christian, Tagrid M. Ruiz-Maldonado, Daniel M. Lindberg, Angela Bachim, Lori Frasier, Terra N. Frazier, Nancy S. Harper, Sara E. Kruczek, Farah Brink, Jennifer E. Wolford, Jan Leonard, M Katherine Henry

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Many young children with isolated skull fractures are referred to child protective services (CPS) despite being assessed to have a low likelihood of abuse. We sought to identify factors associated with CPS referrals in this population and to quantify hospital-level variation.

METHODS: We performed a multicenter retrospective cross-sectional study of children < 2 years with skull fractures with or without a small underlying intracranial hemorrhage (ICH) and no additional injuries undergoing a child abuse pediatrics (CAP) subspecialty evaluation. We explored associations between demographic factors, clinical characteristics, psychosocial risk factors, and hospital site with CPS referral status. We performed multivariable logistic regression, adjusting for transfer status and all significant covariates from unadjusted analyses. We utilized marginal standardization to calculate the estimated probability of CPS referrals at each site, adjusting for all factors in the final model.

RESULTS: Of 528 children, 303 (57.4%) were referred to CPS, with 86.5% referred before CAP consultation. In multivariable logistic regression, presence of psychosocial risk factors (OR 4.00; 95% CI 2.25, 7.11), in-person CAP consult (OR 3.93; 1.61, 9.62), inflicted or no trauma history provided (OR 6.15; 3.30, 11.45), …


Protocol For Non-Invasive Assessment Of Skeletal Muscle Structure And Function In Adolescents With Single Ventricle Heart Disease: A Cross-Sectional, Case-Control Study., Tyler A. Fick, Trent J. Herda, Emily Cramer, David A. White, Daniel Forsha Apr 2026

Protocol For Non-Invasive Assessment Of Skeletal Muscle Structure And Function In Adolescents With Single Ventricle Heart Disease: A Cross-Sectional, Case-Control Study., Tyler A. Fick, Trent J. Herda, Emily Cramer, David A. White, Daniel Forsha

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Congenital heart disease (CHD) is the most common congenital malformation, and the most severe type, single ventricle (SV) heart disease, requires the Fontan surgical palliation. Fontan palliation minimizes hypoxemia and volume overload by separating systemic and pulmonary circulations, resulting in the absence of a sub-pulmonary pump. Skeletal muscle health may have a greater relative contribution to overall functional capacity of those with SV physiology, via the skeletal muscle (SkM) pump mechanism and oxidative capacity. The purpose of this study is to comprehensively evaluate multiple domains of SkM in this population compared to those with normal cardiac anatomy.

METHODS: Forty …


Beyond Parallel Programmes: A Roadmap For Operational Integration Of Family Planning And Nutrition In Low- And Middle-Income Countries, Marleen Temmerman, Samuel Ojong Apr 2026

Beyond Parallel Programmes: A Roadmap For Operational Integration Of Family Planning And Nutrition In Low- And Middle-Income Countries, Marleen Temmerman, Samuel Ojong

Centre of Excellence in Women and Child Health

No abstract provided.


Beyond Parallel Programmes: A Roadmap For Operational Integration Of Family Planning And Nutrition In Low- And Middle-Income Countries, Marleen Temmerman, Samuel Ojong Apr 2026

Beyond Parallel Programmes: A Roadmap For Operational Integration Of Family Planning And Nutrition In Low- And Middle-Income Countries, Marleen Temmerman, Samuel Ojong

Centre of Excellence in Women and Child Health

No abstract provided.


Detection And Quantification Of Allergen Cross-Contact In Shared Frying Oil Using Targeted Mass Spectrometry, Francisca Asigri Apr 2026

Detection And Quantification Of Allergen Cross-Contact In Shared Frying Oil Using Targeted Mass Spectrometry, Francisca Asigri

Department of Food Science and Technology: Dissertations, Theses, and Student Research

Cow’s milk and egg allergies are prevalent IgE-mediated food allergies that pose significant public health concerns worldwide. Although strict avoidance remains the primary management strategy, unintended exposure can still occur through allergen cross-contact, particularly in commercial and industrial food operations that utilize shared frying oils. The objective of this study was to identify and quantify allergen transfer in shared frying oil and assess the robustness of existing targeted mass spectrometry methods (LC-MS/MS) for detecting milk and egg proteins in heated oil matrices.

Heated oil spikes were developed by incorporating non-fat dry milk (NFDM) and whole egg powder (WEP) into oil …


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

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

Center on Aging Staff Publications

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


Examination Of Heart Rate Response To Performance Errors In Competitive Division Iii Field Hockey, Olivia Muir Apr 2026

Examination Of Heart Rate Response To Performance Errors In Competitive Division Iii Field Hockey, Olivia Muir

Undergraduate Theses and Capstone Projects

This research examines the relationship between heart rate and performance outcomes in competitive DIII field hockey match play. In particular, the research examines the players of the Lynchburg Field Hockey Team, with a focus on player errors. Real-time heart rate data were collected using Beyond PulseTM monitors and synchronized with game footage from the SpiideoTM platform. Player errors were then identified using Spiideo’sTM AI software, and the corresponding heart rate values were recorded, spanning from 3 seconds before and 3 seconds after the player error occurred. The maximum heart rate for each player was also calculated using the equation: HRmax …


Early Mental Health Screening In The Gi Patient Population: A Quality Improvement Project, Jacqueline Sagala Apr 2026

Early Mental Health Screening In The Gi Patient Population: A Quality Improvement Project, Jacqueline Sagala

Loma Linda University Electronic Theses, Dissertations & Projects

Aims

This quality improvement project aimed to increase awareness and better integrate mental health screening in a GI clinic by educating staff and providers. The project evaluated changes in depression literacy, attitudes toward mental illness assessment, perceived training effectiveness, use of the training in clinical practice, and referrals to the Resiliency Clinic.

Background

Patients with chronic GI disorders commonly experience anxiety and depression, yet mental health concerns are often overlooked in specialty care. Although annual depression screening was already a part of the standard care at the Digestive Disease Center at Loma Linda University Faculty Medical Clinics, staff education and …


Predictors Of Total Hip Arthroplasty Among Patients With Chronic Comorbidities: A Multivariate Analysis Of A Medically Underserved Region, Blake C. Martin, Manoj Peiris Apr 2026

Predictors Of Total Hip Arthroplasty Among Patients With Chronic Comorbidities: A Multivariate Analysis Of A Medically Underserved Region, Blake C. Martin, Manoj Peiris

School of Medicine Publications

Background

THA is a common orthopedic procedure that is expected to increase in the coming years. Obesity and osteoarthritis are major factors that increase the risk of individuals requiring THA. The Rio Grande Valley (RGV) is a distinctive health professional shortage area with high rates of obesity, arthritis, and diabetes. This study aims to examine the relationship between chronic medical conditions and the need for THA in this at-risk, medically underserved population.

Methods

This investigation employed a retrospective chart review encompassing patient records from January 1, 2018, through January 1, 2025, using the University of Texas Rio Grande Valley electronic …


Structural-Functional Analyses Of The Huntingtin/Hap40 Complex In Drosophila And Humans, Stephen M Farmer, Amanda Solbach, Shiyu Xu, Beatriz Rios, Xin Ye, Daniela Covarrubias, Lili Ye, Vicky Chuong, Erin Furr Stimming, Haiqing Zhao, Sheng Zhang Apr 2026

Structural-Functional Analyses Of The Huntingtin/Hap40 Complex In Drosophila And Humans, Stephen M Farmer, Amanda Solbach, Shiyu Xu, Beatriz Rios, Xin Ye, Daniela Covarrubias, Lili Ye, Vicky Chuong, Erin Furr Stimming, Haiqing Zhao, Sheng Zhang

Faculty, Staff and Student Publications

Huntington's disease (HD) is a neurodegenerative disorder caused by an abnormal CAG expansion in the Huntingtin (HTT) gene. Given its simple genetic cause but complex pathogenic mechanisms, interest in targeting HTT for HD treatment is growing, necessitating a clear understanding of HTT regulation. HTT protein primarily exists in a core complex with HAP40, forming a highly ordered structure with two large globular domains connected by a bridge. We previously demonstrated that HAP40 is conserved in


Multiparametric Mri To Predict Response To Irreversible Electroporation Plus Anti-Pd-1 Immunotherapy In Pancreatic Ductal Adenocarcinoma, Qizhen Cao, Mark D Pagel, Charles V Kingsley, Jingfei Ma, James P Long, Seth T Gammon, Sanaz Javadi, Chun Li Apr 2026

Multiparametric Mri To Predict Response To Irreversible Electroporation Plus Anti-Pd-1 Immunotherapy In Pancreatic Ductal Adenocarcinoma, Qizhen Cao, Mark D Pagel, Charles V Kingsley, Jingfei Ma, James P Long, Seth T Gammon, Sanaz Javadi, Chun Li

Faculty, Staff and Student Publications

Purpose: To investigate contrast-enhanced T1-weighted MRI and diffusion-weighted magnetic resonance imaging (DWI) for early prediction of tumor response to combined irreversible electroporation (IRE) and anti-PD-1 immunotherapy.

Methods: Murine pancreatic ductal adenocarcinoma (PDAC) cells KRAS* were inoculated into the pancreas of C57BL/6 mice. IRE was performed when tumors became palpable. After IRE, mice received six intraperitoneal injections of anti-PD-1 over 2 weeks. T2-weighted MRI, T1-weighted MRI with macromolecular contrast agent poly(L-glutamic acid)-conjugated gadolinium (PG-Gd), and DWI were performed before and after IRE. Survival was analyzed using Kaplan-Meier curves. Mice surviving at least 100 days without recurrence after IRE were considered complete …


Empathy, Compassion Fatigue, And Resilience In Central Florida Firefighters And Ems Personnel, Lisa M. Correll Apr 2026

Empathy, Compassion Fatigue, And Resilience In Central Florida Firefighters And Ems Personnel, Lisa M. Correll

PhD in Education

The purpose of this nonexperimental quantitative study was to determine the relationship between empathy, compassion fatigue (CF), and resilience in firefighters and EMS personnel. Career firefighters and EMS personnel (N = 76) in Central Florida participated in an online survey that included demographic information, the Empathy Assessment Index, Professional Quality of Life Scale, and the Connor-Davidson Resilience Scale-10. Participants reported high perceptions of empathy (M = 4.11), resilience (M = 3.98), and quality of life (M = 3.28), but CF was perceived at low levels (M = 2.97). Empathy was not predictive of CF, indicating that overall empathy alone does …


Neutrophil-Microglia Interaction Drives Motor Dysfunction In A Neuromyelitis Optica Model Induced By Subarachnoid Aqp4-Igg, Fangfang Qi, Vanda A Lennon, Shunyi Zhao, Yong Guo, Husheng Ding, Whitney M Bartley, Claudia F Lucchinetti, Long-Jun Wu Apr 2026

Neutrophil-Microglia Interaction Drives Motor Dysfunction In A Neuromyelitis Optica Model Induced By Subarachnoid Aqp4-Igg, Fangfang Qi, Vanda A Lennon, Shunyi Zhao, Yong Guo, Husheng Ding, Whitney M Bartley, Claudia F Lucchinetti, Long-Jun Wu

Faculty, Staff and Student Publications

Neutrophils and neutrophil extracellular traps (NETs) contribute to early neuromyelitis optica (NMO) histopathology initiated by IgG targeting astrocytic aquaporin-4 (AQP4) water channels. Yet, the mechanisms underlying neutrophil recruitment and their pathogenic roles in disease progression remain unclear. To investigate molecular-cellular events preceding classical complement cascade activation in a mouse NMO model, we continuously infused, via spinal subarachnoid route, a non-complement-activating mouse monoclonal AQP4-IgG. Parenchymal infiltration of netting neutrophils containing C5a ensued with microglial activation and motor impairment but no blood-brain barrier leakage. Motor impairment and neuronal dysfunction both reversed when AQP4-IgG infusion stopped. Two-photon microscopy and electron microscopy-based reconstructions revealed …


Axillary Management After Neoadjuvant Endocrine Therapy (Net), Laura Leonard, Min Yi, Emma Wingate, Puneet Singh, Abigail Caudle, Isabelle Bedrosian, Jennifer Litton, Nuhad Ibrahim, Kelly K Hunt Apr 2026

Axillary Management After Neoadjuvant Endocrine Therapy (Net), Laura Leonard, Min Yi, Emma Wingate, Puneet Singh, Abigail Caudle, Isabelle Bedrosian, Jennifer Litton, Nuhad Ibrahim, Kelly K Hunt

Faculty, Staff and Student Publications

BACKGROUND: In patients with hormone receptor-positive (HR

PATIENTS AND METHODS: We performed a retrospective review of patients with clinical stage I-III, HR

RESULTS: A total of 230 patients were included; 120 (52.2%) were clinically node-negative (cN0), while 110 (47.8%) were clinically node-positive (cN+). In the cN+ group, 7.3% (8/110) had a nodal pathologic complete response (pCR). In total, 76.4% (84/110) in the cN+ group underwent axillary lymph node dissection (ALND) as the initial axillary procedure, and 90.9% (100/110) underwent ALND overall. In total, 98.3% (118/120) with cN0 disease underwent sentinel lymph node dissection (SLND), and 28 (23.7%) had positive nodes. …


A Flexible Wearable Glucose Sensor For Noninvasive Diabetes Screening: Functional Equivalence And Model Interpretability, Wenhan Xie, Wang, Hao Liu, Shuo Chen, Peng Wang, Yumei Han, Xianxiang Chen, Zhen Fang, Zhan Zhao, Guohong Zhang, Xiuhua Guo Apr 2026

A Flexible Wearable Glucose Sensor For Noninvasive Diabetes Screening: Functional Equivalence And Model Interpretability, Wenhan Xie, Wang, Hao Liu, Shuo Chen, Peng Wang, Yumei Han, Xianxiang Chen, Zhen Fang, Zhan Zhao, Guohong Zhang, Xiuhua Guo

Research outputs 2022 to 2026

Real-world evidence for wearable noninvasive glucose monitoring (NIGM) remains limited. To evaluate the functional equivalence of a wearable NIGM device and explore its utility for T2DM and prediabetes screening. In this multicenter study, 12-h daytime glucose profiles obtained by a flexible reverse iontophoresis-based electrochemical sensor were compared with capillary glucose using functional equivalence. Subgroup analyses were conducted. Screening models of T2DM and prediabetes were developed using elastic net and Logistic regression. A total of 135 participants (mean age 35.3 years; 60.0% female) were included, and no serious device-related adverse events were reported. Compared to the capillary measurements, functional equivalence was …


From Eccentric Force To Explosive Output: A Multidimensional Analysis Of Mechanical Efficiency, Neuromuscular Strategy, And Performance Prediction In National-Level Junior Badminton Athletes Undergoing Overload Training, Mariola Gepfert, Kinga Łosińska, Dariusz T. Skalski, Magdalena Prończuk, Izabella Socha, Alicja Markiel, Aleksandra Markowska, Adam Maszczyk, Artur Gołaś Mar 2026

From Eccentric Force To Explosive Output: A Multidimensional Analysis Of Mechanical Efficiency, Neuromuscular Strategy, And Performance Prediction In National-Level Junior Badminton Athletes Undergoing Overload Training, Mariola Gepfert, Kinga Łosińska, Dariusz T. Skalski, Magdalena Prończuk, Izabella Socha, Alicja Markiel, Aleksandra Markowska, Adam Maszczyk, Artur Gołaś

Baltic Journal of Health and Physical Activity

This study aimed to investigate the neuromechanical pathways linking eccentric force production to explosive concentric output during countermovement jumps (CMJ) in national-level junior badminton athletes undergoing a specialized eccentric training program. Objective: 36 male athletes (age 16.5 ± 1.2 years) were quasi-randomly assigned to an experimental group (EG; n=18), which completed a 6-week supervised eccentric overload training in-volving flywheel squats and depth jumps thrice weekly, or a control group (CG; n=18), which maintained their habitual in-season training without additional interventions. Methods: Pre- and post-intervention assessments included CMJ performance measured on a force platform, with detailed analysis of kinetic and temporal …


Physical And Physiological Profiles Of Competitive Fencers: A Systematic Review And Meta-Analysis Of Strength, Power, Endurance, Agility And Asymmetry, Joanna Motowidło, Miłosz Drozd, Petr Stastny, Dariusz T. Skalski, Izabella Socha, Adam Maszczyk Mar 2026

Physical And Physiological Profiles Of Competitive Fencers: A Systematic Review And Meta-Analysis Of Strength, Power, Endurance, Agility And Asymmetry, Joanna Motowidło, Miłosz Drozd, Petr Stastny, Dariusz T. Skalski, Izabella Socha, Adam Maszczyk

Baltic Journal of Health and Physical Activity

Background: Evidence on lower-limb strength, explosive power and bilateral asymmetry in competitive fencing is fragmented, and the relative impact of general neuromuscular capacity versus targeted training interventions remains unclear. The aim of this systematic review and meta-analysis is to provide a multidimensional, evidence-based synthesis of data on strength, power, and bilateral asymmetry of the lower limbs in professional fencers. Materials and methods: Following PRISMA 2020 (PROSPERO CRD420251041007), six databases were searched by 31 January 2025. Forty studies of fencers aged ≥ 12 years met the inclusion criteria. Three domain-specific random-effects meta-analyses (DerSimonian–Laird) were conducted: (1) integrated strength and power across …


Sequential Presentation Of Diabetic Ketoacidosis, Acute Ischemic Stroke, And St-Elevation Myocardial Infarction: A Case Report, Ichlasul Mahdi Fardhani, Putu Aditya Darmawan Kuntadi, Hammam Arif Shabri, Muhammad Isra Rafidin Rayyan, Zarrah Yuniar Qolbi Harris, Tristi Lukita Wening, Azham Purwandhono Mar 2026

Sequential Presentation Of Diabetic Ketoacidosis, Acute Ischemic Stroke, And St-Elevation Myocardial Infarction: A Case Report, Ichlasul Mahdi Fardhani, Putu Aditya Darmawan Kuntadi, Hammam Arif Shabri, Muhammad Isra Rafidin Rayyan, Zarrah Yuniar Qolbi Harris, Tristi Lukita Wening, Azham Purwandhono

Chulalongkorn Medical Journal

Cardio-cerebral infarction (CCI), the simultaneous occurrence of acute ischemic stroke (AIS) and acute myocardial infarction (AMI), is a rare and life-threatening emergency. Management becomes even more challenging when accompanied by metabolic complications like diabetic ketoacidosis (DKA). We report a case of a 45-year-old man with hypertension and a chronic smoking history, found unresponsive with right-sided hemiparesis. He was last seen well six hours before arrival. On examination, he was hypertensive, tachypneic, had a ketotic breath odor, GCS 12, and NIHSS 15. Laboratory results confirmed DKA, with a random blood glucose of 412 mg/dL and metabolic acidosis. Non-contrast brain CT revealed …


High-Power Dual-Channel Chamber For High-Frequency Magnetic Neuromodulation, Jinshui Zhang, Dong Yan, Jeannette Ingabire, Samantha Coffler, Guillaume Duret, Quoc-Khanh Pham, Gang Bao, Junzhe Wang, Ashok Veeraraghavan, Jacob T Robinson, Stefan M Goetz, Angel V Peterchev Mar 2026

High-Power Dual-Channel Chamber For High-Frequency Magnetic Neuromodulation, Jinshui Zhang, Dong Yan, Jeannette Ingabire, Samantha Coffler, Guillaume Duret, Quoc-Khanh Pham, Gang Bao, Junzhe Wang, Ashok Veeraraghavan, Jacob T Robinson, Stefan M Goetz, Angel V Peterchev

Faculty, Staff and Students Publications

Objective. Several novel methods, including magnetogenetics and magnetoelectric stimulation, use high frequency alternating magnetic fields to precisely manipulate neural activity. To quantify the behavioral effects of such interventions in a freely moving mouse, we developed a dual-channel magnetic chamber, specifically designed for rate-sensitive magnetothermal-genetic stimulation, and adaptable for other uses of alternating magnetic fields.

Approach. Through an optimized coil design, the system allows independent control of two spatially orthogonal uniform magnetic fields delivered at different frequencies within a 10 × 10 × 6 cm3 chamber suitable for mouse studies. The two channels have nominal frequencies of 50 and 550 kHz …


Waktu Pemulihan Saturasi Oksigen Pada Pasien Covid-19 Di Rsnd Semarang: Pengaruh Usia, Derajat Keparahan, Dan Komorbiditas, Hererapratita Aysha Hapsari, Yosef Purwoko, Edwin Basyar, Dwi Ngestiningsih Mar 2026

Waktu Pemulihan Saturasi Oksigen Pada Pasien Covid-19 Di Rsnd Semarang: Pengaruh Usia, Derajat Keparahan, Dan Komorbiditas, Hererapratita Aysha Hapsari, Yosef Purwoko, Edwin Basyar, Dwi Ngestiningsih

Jurnal Penyakit Dalam Indonesia

Introduction. COVID-19 may cause impaired oxygenation that affects the recovery process, making oxygen saturation an important parameter in clinical monitoring. Age, disease severity, and comorbidities are suspected to influence the duration of oxygen saturation recovery. This study aimed to analyze differences in oxygen saturation recovery time based on age, disease severity, and comorbidity status in hospitalized COVID-19 patients.

Methods. This was an observational analytic study with a retrospective cohort design using a survival analysis approach. The study was conducted at Diponegoro National Hospital (RSND) Semarang from October to November 2021 using medical records of hospitalized COVID-19 patients from …