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Poststroke Impulsivity: A Narrative Review, Ricardo E Jorge Jan 2025

Poststroke Impulsivity: A Narrative Review, Ricardo E Jorge

Faculty, Staff and Students Publications

In this narrative review, the authors examine the multidimensional nature and presentations of impulsivity after stroke. Impulsivity manifests as immediate or premature responses, impaired delayed gratification, perseverance despite punishment, and other displays of impaired emotional and behavioral regulation. The literature on the assessments, outcomes, and treatment of patients with these various manifestations after a cerebrovascular injury is reviewed. Findings from case reports indicate that poststroke impulsivity may manifest across neurobehavioral syndromes that are not well defined in the psychiatric nomenclature, such as alien hand syndrome and atypical impulse control disorders. Overall, impulse control disorders appear to be rare poststroke. Therapeutic …


Urinary Ammonium: A Potential Novel Biomarker For Diarrhea Severity In Patients With Ulcerative Colitis, Adith Ram, Jason K Hou Jan 2025

Urinary Ammonium: A Potential Novel Biomarker For Diarrhea Severity In Patients With Ulcerative Colitis, Adith Ram, Jason K Hou

Faculty, Staff and Students Publications

No abstract provided.


Tb And Diabetes In Eswatini: Addressing Suboptimal Treatment Outcomes Through Integrated Services, Lobsang Palmo, Debrah Vambe, Ntombifuthi Ginindza, Nonhlanhla Dlamini, Andrea A Howard, Joanne E Mantell Jan 2025

Tb And Diabetes In Eswatini: Addressing Suboptimal Treatment Outcomes Through Integrated Services, Lobsang Palmo, Debrah Vambe, Ntombifuthi Ginindza, Nonhlanhla Dlamini, Andrea A Howard, Joanne E Mantell

Faculty, Staff and Students Publications

Tuberculosis (TB) remains a significant public health challenge in Eswatini, a country with the highest global HIV prevalence. Diabetes mellitus (DM) is increasingly common among people newly diagnosed with TB, contributing to suboptimal TB treatment outcomes, including relapse and death. The DETECT study employed a multi-method approach to assess the prevalence and DM impact on TB treatment outcomes among adults with TB in 10 Ministry of Health facilities in Eswatini, and explore barriers and facilitators to integrating TB/DM services. DM screening was conducted using laboratory-based glycated hemoglobin (A1c) testing, with DM defined as A1c ≥ 6.5% and preDM as A1c …


Clinical Variation In Lowe Syndrome: What And How? Jan 2025

Clinical Variation In Lowe Syndrome: What And How?

Faculty, Staff and Students Publications

Lowe syndrome is an X-linked disorder caused by mutations of the OCRL gene which encodes the enzyme inositol polyphosphate-5-phosphatase OCRL (Ocrl1) and is expressed in almost all body cells. Clinical characteristics involve kidney, brain, eye, muscle, bone, teeth, testes, skin and thrombocytes. Clinical phenotypes are heterogenous among families and even among affected boys in the same family. All have kidney disease varying from severe manifestations of Fanconi syndrome to only low molecular weight proteinuria, hypercalciuria and little kidney disease in the first decade of life. All develop chronic kidney disease (CKD) that typically progresses slowly and reaches stages 4–5 after …


Mutations In Retinal Cyclic Nucleotide-Gated Channels Identified In Familial Cases Of Inherited Retinal Dystrophies From Pakistan, Sumaira Altaf, Aleesha Asghar, Ume Sughra, Wajid Ali Khan, Haiba Kaul, Rui Chen, Sabika Firasat Jan 2025

Mutations In Retinal Cyclic Nucleotide-Gated Channels Identified In Familial Cases Of Inherited Retinal Dystrophies From Pakistan, Sumaira Altaf, Aleesha Asghar, Ume Sughra, Wajid Ali Khan, Haiba Kaul, Rui Chen, Sabika Firasat

Faculty, Staff and Students Publications

Purpose: Cyclic nucleotide-gated (CNG) channels are ligand-gated ion channels that transduce light signals into electrical signals in the retinal photoreceptors. Pathogenic variants in CNG channel genes are reported to cause inherited retinal dystrophies (IRDs). The current study used targeted panel sequencing to describe the mutational spectrum of CNG channel genes in familial cases of IRDs from eight consanguineous Pakistani families.

Methods: The current study included consanguineous Pakistani families with at least two affected members. DNA was extracted from whole blood samples by the phenol-chloroform method. Two affected members from each family were initially analyzed using targeted panel sequencing of 344 …


Quality Of Life In Young Adults With Type 1 Diabetes, Tricia Tang, Sarah Lyons, Siripoom Mckay, Barbara J Anderson, Charles G Minard, Sridevi Devaraj, Ashley M Butler, Marisa E Hilliard Jan 2025

Quality Of Life In Young Adults With Type 1 Diabetes, Tricia Tang, Sarah Lyons, Siripoom Mckay, Barbara J Anderson, Charles G Minard, Sridevi Devaraj, Ashley M Butler, Marisa E Hilliard

Faculty, Staff and Students Publications

Introduction: Challenges of young adulthood with type 1 diabetes (T1D) include transitioning to adult care, increased T1D self-management responsibilities, and normal developmental transitions. Recognizing patterns of health-related quality of life (HRQOL) across a demographically and clinically broad range of young adults with T1D may help identify who needs additional support as they transfer to adult healthcare. We hypothesized that young adults from specific demographic and clinical groups would report lower HRQOL.

Methods: At baseline of a behavioral RCT (≤2 months after last pediatric T1D clinic visit), 100 young adults (Mage=19.9 ± 1.3, MA1c=8.8 ± 2.0 %) self-reported demographics and HRQOL; …


Impact Of Antiparasitic Therapy On Cardiovascular Outcomes In Chronic Chagas Disease A Systematic Review And Meta-Analysis, Ranjit Sah, Sangam Shah, Nelson I Agudelo Higuita, Fabio Mahamed Rassi, Michaele Francesco Corbisiero, Hannah M Kyllo, Jordan Stellern, Samantha Kaplan, Luis A Marcos, Edgar A Ramírez-García, Martin Casapia, Peter Hotez, Maria Elena Bottazzi, Shital Patel, Carlos Franco-Paredes, José Antonio Marin-Neto, Andrés F Henao-Martínez Jan 2025

Impact Of Antiparasitic Therapy On Cardiovascular Outcomes In Chronic Chagas Disease A Systematic Review And Meta-Analysis, Ranjit Sah, Sangam Shah, Nelson I Agudelo Higuita, Fabio Mahamed Rassi, Michaele Francesco Corbisiero, Hannah M Kyllo, Jordan Stellern, Samantha Kaplan, Luis A Marcos, Edgar A Ramírez-García, Martin Casapia, Peter Hotez, Maria Elena Bottazzi, Shital Patel, Carlos Franco-Paredes, José Antonio Marin-Neto, Andrés F Henao-Martínez

Faculty, Staff and Students Publications

BACKGROUND: Endemic in more than 20 countries, Chagas disease affects 6.3 million people worldwide, leading to 28,000 new infections and 7700 deaths each year. Previous meta-analyses on antiparasitic treatment need updates to encompass recent studies and to assess key clinically meaningful endpoints. This study aims to evaluate the impact of antitrypanosomal therapy in preventing or reducing disease progression and mortality in chronic Chagas disease.

METHODS: We performed a systematic review and meta-analysis of studies reporting the cardiovascular outcomes of antitrypanosomal therapy in patients with chronic Chagas disease. We searched Ovid Embase, Ovid MEDLINE, Ovid Global Health, Scopus, Web of Science …


A Pipeline For Rapid, High-Throughput Imaging And Quantitative Analysis Of Human Intestinal Organoids, Robert A Britton, Michael J Bolt, Michael A Mancini, Mary K Estes, Sarah E Blutt Jan 2025

A Pipeline For Rapid, High-Throughput Imaging And Quantitative Analysis Of Human Intestinal Organoids, Robert A Britton, Michael J Bolt, Michael A Mancini, Mary K Estes, Sarah E Blutt

Faculty, Staff and Students Publications

Human intestinal organoids (HIOs) are a model system for studying human intestinal epithelium. Utilizing HIOs for high-throughput studies remains inefficient, as analyzing their cellular composition and responses to varying experimental conditions requires extensive time and labor. We describe a 96-well plate-based automated pipeline for rapidly imaging and quantifying fluorescent labeling in HIOs using a high-throughput confocal microscope and image analysis software. The pipeline was leveraged to quantify varying levels of cell proliferation among donor HIO lines in response to microbial products. Cytoplasmic fluorescence via antibody labeling was also quantified with the pipeline, enabling measurement of the prevalence of specific cell …


Fractalkine Inhibition Improves Survival And Reduces Tumor Immune Cell Infiltration In Orthotopic Murine Glioma Models, Karina Moreno, Yuhui Yang, Khatri Latha, Ganesh Rao Jan 2025

Fractalkine Inhibition Improves Survival And Reduces Tumor Immune Cell Infiltration In Orthotopic Murine Glioma Models, Karina Moreno, Yuhui Yang, Khatri Latha, Ganesh Rao

Faculty, Staff and Students Publications

No abstract provided.


Id-Gba: Subgraph Extension With Information Distance Guilt By Association In Complex Networks, Varduhi Petrosyan Jan 2025

Id-Gba: Subgraph Extension With Information Distance Guilt By Association In Complex Networks, Varduhi Petrosyan

Faculty, Staff and Students Publications

Here, we introduce the ID-GBA (Information Distance Guilt By Association) method to expand highly connected sets of nodes by deploying a novel algorithm for subgraph extension based on the guilt-by-association principle and information distance. In this study, ID-GBA was utilized to expand disease clusters, and identify novel disease genes. We first validate its ability to expand related disease sets from disease/disease graphs built using Open Targets' gene association scores. We then analyze disease/control gene expression networks and show that ID-GBA recaptures known disease genes in nine disease/control graphs. Compared to existing methods such as Random Walk with Restarts and Personalized …


Global Consensus On Optimal Exercise Recommendations For Enhancing Healthy Longevity In Older Adults (Icsfr), Heike A Bischoff-Ferrari, Eduardo L Cadore, Matteo Cesari, Liang-Kung Chen, Paul M Coen, Kerry S Courneya, Gustavo Duque, Luigi Ferrucci, Roger A Fielding, Antonio García-Hermoso, Luis Miguel Gutiérrez-Robledo, Stephen D R Harridge, Ben Kirk, Stephen Kritchevsky, Francesco Landi, Norman Lazarus, Teresa Liu-Ambrose, Emanuele Marzetti, Reshma A Merchant, John E Morley, Kaisu H Pitkälä, Robinson Ramírez-Vélez, Leocadio Rodriguez-Mañas, Yves Rolland, Jorge G Ruiz, Mikel L Sáez De Asteasu, Dennis T Villareal, Debra L Waters, Chang Won Won, Bruno Vellas, Maria A Fiatarone Singh Jan 2025

Global Consensus On Optimal Exercise Recommendations For Enhancing Healthy Longevity In Older Adults (Icsfr), Heike A Bischoff-Ferrari, Eduardo L Cadore, Matteo Cesari, Liang-Kung Chen, Paul M Coen, Kerry S Courneya, Gustavo Duque, Luigi Ferrucci, Roger A Fielding, Antonio García-Hermoso, Luis Miguel Gutiérrez-Robledo, Stephen D R Harridge, Ben Kirk, Stephen Kritchevsky, Francesco Landi, Norman Lazarus, Teresa Liu-Ambrose, Emanuele Marzetti, Reshma A Merchant, John E Morley, Kaisu H Pitkälä, Robinson Ramírez-Vélez, Leocadio Rodriguez-Mañas, Yves Rolland, Jorge G Ruiz, Mikel L Sáez De Asteasu, Dennis T Villareal, Debra L Waters, Chang Won Won, Bruno Vellas, Maria A Fiatarone Singh

Faculty, Staff and Students Publications

Aging, a universal and inevitable process, is characterized by a progressive accumulation of physiological alterations and functional decline over time, leading to increased vulnerability to diseases and ultimately mortality as age advances. Lifestyle factors, notably physical activity (PA) and exercise, significantly modulate aging phenotypes. Physical activity and exercise can prevent or ameliorate lifestyle-related diseases, extend health span, enhance physical function, and reduce the burden of non-communicable chronic diseases including cardiometabolic disease, cancer, musculoskeletal and neurological conditions, and chronic respiratory diseases as well as premature mortality. Physical activity influences the cellular and molecular drivers of biological aging, slowing aging rates-a foundational …


Designing And Implementing Solution-Oriented Team Science Initiatives-A Chronic Pain Example, Yenisel Cruz-Almeida, Christopher R Donnelly, Brendan Lee, Rebecca Lenzi, Anne-Marie Malfait, Marie Mancini, Maryann E Martone, Joost B Wagenaar, Kim C Worley Jan 2025

Designing And Implementing Solution-Oriented Team Science Initiatives-A Chronic Pain Example, Yenisel Cruz-Almeida, Christopher R Donnelly, Brendan Lee, Rebecca Lenzi, Anne-Marie Malfait, Marie Mancini, Maryann E Martone, Joost B Wagenaar, Kim C Worley

Faculty, Staff and Students Publications

Large, collaborative projects that combine researchers from multiple scientific disciplines have become an integral part of the scientific endeavor. While transdisciplinary team science projects hold great potential, they also come with a unique set of challenges compared to monodisciplinary projects. The Science of Team Science (SciTS) field has developed multiple conceptual models and frameworks that guide the design, implementation, and evaluation of team science initiatives to maximize their potential for making breakthrough discoveries and creating solutions for complex problems. While these conceptual models contain a trove of valuable information for successful team science, guidance on how to effectively implement them …


Evaluation Of Methotrexate Pharmacogenomic Variation To Predict Acute Neurotoxicity In Children With Acute Lymphoblastic Leukemia, Amy E Hughes, Mark Zobeck, Sandi Pruitt, M Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Ashley Choi, Yuu Ohno, Melissa A Richard, Alanna C Morrison, Han Chen, Bing Yu, Philip J Lupo, Karen Rabin, Michael E Scheurer, Austin L Brown Jan 2025

Evaluation Of Methotrexate Pharmacogenomic Variation To Predict Acute Neurotoxicity In Children With Acute Lymphoblastic Leukemia, Amy E Hughes, Mark Zobeck, Sandi Pruitt, M Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Ashley Choi, Yuu Ohno, Melissa A Richard, Alanna C Morrison, Han Chen, Bing Yu, Philip J Lupo, Karen Rabin, Michael E Scheurer, Austin L Brown

Faculty, Staff and Students Publications

BACKGROUND: Methotrexate is an important component of curative therapy in childhood acute lymphoblastic leukemia (ALL), but the role of genetic variation influencing methotrexate clearance and transport in toxicity susceptibility in children with ALL is not well established. Therefore, we evaluated the association between suspected methotrexate pharmacogenomic variants and methotrexate-related neurotoxicity.

METHODS: This study included children (aged 2-20 years) diagnosed with ALL (2005-2019) at six treatment centers in the southwest United States. Clinical information was abstracted from medical records. Suspected neurotoxic events occurring within 21 days of intravenous and/or intrathecal methotrexate delivered between the end of induction and start of maintenance …


Detection Of Viral Rna And Dna And Immune Response Following Administration Of Live Attenuated Measles And Varicella Vaccines In Children With Chronic Liver Disease, Shaobing Li, Krupa Mysore, Adriana Weinberg, Amy G Feldman Jan 2025

Detection Of Viral Rna And Dna And Immune Response Following Administration Of Live Attenuated Measles And Varicella Vaccines In Children With Chronic Liver Disease, Shaobing Li, Krupa Mysore, Adriana Weinberg, Amy G Feldman

Faculty, Staff and Students Publications

Infections preventable by live virus vaccines are surging in the setting of decreased herd immunity. Many children with chronic liver diseases (CLDs) are unimmunized and at increased risk for infection due to guidelines recommending against live vaccines within 4 weeks pretransplant. This prospective study of 21 children with CLD and 13 healthy controls defined the timing of measles virus and varicella-zoster virus (VZV) RNA- and DNA-emia following vaccination and compared immune responses to measles and varicella vaccines in both groups. Measles virus RNA and VZV DNA real-time PCR were measured weekly following vaccination; measles virus RNA was undetectable in all …


Incidence And Outcomes Of Hospitalized Acute Ischemic Stroke Patients With Subsequent St-Segment-Elevation Myocardial Infarction, Hafeez Ul Hassan Virk, Jonathan Alan Tangsrivimol, Iqra Riaz, Zhen Wang, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong Jan 2025

Incidence And Outcomes Of Hospitalized Acute Ischemic Stroke Patients With Subsequent St-Segment-Elevation Myocardial Infarction, Hafeez Ul Hassan Virk, Jonathan Alan Tangsrivimol, Iqra Riaz, Zhen Wang, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Background: Patients admitted with acute ischemic stroke (AIS) may experience accompanying acute ST-Segment myocardial infarction after AIS. The cardiovascular risks, incidence, complications, and outcomes of acute STEMI in patients hospitalized with AIS remains underexplored.

Methods: We evaluated 2,804,819 patients that presented with AIS who were listed in the National Inpatient Sample from 2016 to 2021. AIS and STEMI were defined according to the ICD-10 Diagnostic Codes. Patients with Non-STEMI were excluded. The risk of specific complications and outcomes were expressed as percentages. Multivariable logistic regression analysis was used to examine the association of STEMI with a primary outcome of mortality …


Testosterone Plus Lifestyle Therapy Improves Skeletal Muscle Glycolysis In Older Men With Obesity And Hypogonadism, Alessandra Celli, Reina Armamento-Villareal, Yoann Barnouin, Nicola Napoli, Nagireeddy Putluri, Clifford Qualls, Dennis T Villareal Jan 2025

Testosterone Plus Lifestyle Therapy Improves Skeletal Muscle Glycolysis In Older Men With Obesity And Hypogonadism, Alessandra Celli, Reina Armamento-Villareal, Yoann Barnouin, Nicola Napoli, Nagireeddy Putluri, Clifford Qualls, Dennis T Villareal

Faculty, Staff and Students Publications

Objective: Weight loss in older men with obesity and hypogonadism accelerates musculoskeletal decline, yet the underlying metabolic mechanisms remain unclear. Testosterone replacement therapy (TRT), when added to lifestyle therapy (LT), mitigates this decline, but its metabolic basis has not been defined. We examined skeletal muscle metabolomic adaptations to LT with or without TRT, focusing on glycolysis, the pentose phosphate pathway (PPP), the tricarboxylic acid (TCA) cycle, and carnitine metabolism to identify dominant pathways of metabolic adaptation.

Design: Randomized, double-blind, placebo-controlled trial (LITROS).

Methods: Eighty-three men aged 65 years or older with obesity (BMI ≥30 kg/m2), hypogonadism (testosterone < 10.4 nmol/L), and frailty (Physical Performance Test score ≤31) were randomized to 26 weeks of LT plus TRT (LT+TRT) or LT plus placebo (LT+Pbo). A metabolomic substudy was performed in 44 participants, who underwent serial biopsies of the vastus lateralis for targeted LC-MS/MS analysis of intermediates in glycolysis, PPP, TCA cycle, and carnitine metabolism.

Results: Among the …


Finite Element Modeling In Obstetrics And Gynecology: Advances, Applications, And Challenges, Manuel Karl Rausch, Julie Hakim Jan 2025

Finite Element Modeling In Obstetrics And Gynecology: Advances, Applications, And Challenges, Manuel Karl Rausch, Julie Hakim

Faculty, Staff and Students Publications

Finite element modeling (FEM) is a critical tool in biomechanics and biomedical engineering, offering valuable insights where in vivo or ex vivo investigations are not possible. This review specifically highlights the diverse applications of FEM within obstetrics and gynecology through a comprehensive analysis of the literature. We explore the past use of FEM in analyzing complications affecting pelvic floor structures, urinary continence, and reproduction. The potential contributions of FEM in addressing these challenges are summarized and future directions for its application in obstetrics and gynecology are highlighted.


Toward Precision Longevity: Aging Interventions In The Single-Cell Atlas Era, Hongjie Li Jan 2025

Toward Precision Longevity: Aging Interventions In The Single-Cell Atlas Era, Hongjie Li

Faculty, Staff and Students Publications

With growing global interest in extending not only lifespan but also healthspan, healthy aging has emerged as a central goal in biomedical research. This review provides an overview of current longevity interventions, including genetic manipulations, dietary restriction, exercise, pharmacological treatments, targeting senescence and cellular reprogramming strategies, as studied in key model organisms such as Caenorhabditis elegans, Drosophila melanogaster, and Mus musculus. We examine the limitations and challenges associated with these approaches, particularly their variability across tissues and cell types. Furthermore, we emphasize the critical role of single-cell aging atlas technologies in uncovering cell-type–specific aging patterns and molecular …


The Department Of Cardiovascular Anesthesia Of The Texas Heart Institute: An Informal History Jan 2025

The Department Of Cardiovascular Anesthesia Of The Texas Heart Institute: An Informal History

Faculty, Staff and Students Publications

No abstract provided.


Telemedicine For Under-Resourced Patients With Systemic Lupus Erythematosus: A Qualitative Study Exploring The Views And Experiences Of Patients And Their Healthcare Team, Maryjo J Maliekel, Maria A Lopez-Olivo, Maria E Suarez-Almazor, Maria I Danila, Jinoos Yazdany, Sebastian Bruera Jan 2025

Telemedicine For Under-Resourced Patients With Systemic Lupus Erythematosus: A Qualitative Study Exploring The Views And Experiences Of Patients And Their Healthcare Team, Maryjo J Maliekel, Maria A Lopez-Olivo, Maria E Suarez-Almazor, Maria I Danila, Jinoos Yazdany, Sebastian Bruera

Faculty, Staff and Students Publications

Objectives: There is scarce knowledge on the benefits, limitations, and acceptance of telemedicine in patients with systemic lupus erythematosus (SLE), particularly in those from under-resourced groups. We aimed to assess the experiences and views on telemedicine of people with SLE, clinicians, and nursing staff from a safety net healthcare system in Harris County, Texas, defined as a hospital network that primarily serves low-income, uninsured, and vulnerable populations.

Methods: We conducted semi-structured 1:1 in-person interviews of patients with SLE and their clinical team members, in Harris County, Texas. Using Levesque's conceptual framework for healthcare access, semi-structured interviews and content analysis were …


Clues To Transcription/Replication Collision-Induced Dna Damage: It Was Rnap, In The Chromosome, With The Fork Jan 2025

Clues To Transcription/Replication Collision-Induced Dna Damage: It Was Rnap, In The Chromosome, With The Fork

Faculty, Staff and Students Publications

DNA replication and RNA transcription processes compete for the same DNA template and, thus, frequently collide. These transcription-replication collisions are thought to lead to genomic instability, which places a selective pressure on organisms to avoid them. Here, we review the predisposing causes, molecular mechanisms, and downstream consequences of transcription-replication collisions (TRCs) with a strong emphasis on prokaryotic model systems, before contrasting prokaryotic findings with cases in eukaryotic systems. Current research points to genomic structure as the primary determinant of steady-state TRC levels and RNA polymerase regulation as the primary inducer of excess TRCs. We review the proposed mechanisms of TRC-induced …


Reliable Rna-Seq Analysis From Ffpe Specimens As A Means To Accelerate Cancer-Related Health Disparities Research, Patricia Castro, Alan Frederick, Andrew Frederick, Rashid A Osman, Fonma Essien, Imelda Yebra, Ashley Hamlin, Thomas J Ow, Heath D Skinner, Vlad C Sandulache Jan 2025

Reliable Rna-Seq Analysis From Ffpe Specimens As A Means To Accelerate Cancer-Related Health Disparities Research, Patricia Castro, Alan Frederick, Andrew Frederick, Rashid A Osman, Fonma Essien, Imelda Yebra, Ashley Hamlin, Thomas J Ow, Heath D Skinner, Vlad C Sandulache

Faculty, Staff and Students Publications

Whole transcriptome sequencing (WTS/ RNA-Seq) is a ubiquitous tool for investigating cancer biology. RNA isolated from frozen sources limits possible studies for analysis of associations with phenotypes or clinical variables requiring long-term follow-up. Although good correlations are reported in RNA-Seq data from paired frozen and formalin fixed paraffin embedded (FFPE) samples, uncertainties regarding RNA quality, methods of extraction, and data reliability are hurdles to utilization of archival samples. We compared three different platforms for performing RNA-seq using archival FFPE oropharyngeal squamous carcinoma (OPSCC) specimens stored up to 20 years, as part of an investigation of transcriptional profiles related to health …


Primary Cardiac Osteosarcoma: Epidemiology, Diagnosis, And Management - A Narrative Review, Ali Khalifa, Anvinh Nguyen Jan 2025

Primary Cardiac Osteosarcoma: Epidemiology, Diagnosis, And Management - A Narrative Review, Ali Khalifa, Anvinh Nguyen

Faculty, Staff and Students Publications

Primary cardiac sarcomas are exceedingly rare, with a very low incidence in the general population. A variety of sarcoma subtypes can originate in the heart, including angiosarcoma, rhabdomyosarcoma, leiomyosarcoma, fibrosarcoma, and osteosarcoma. These tumors are typically classified based on histological characteristics, most often determined following surgical excision or biopsy. Among them, primary cardiac osteosarcoma is one of the rarest forms, with fewer than 60 cases reported in the literature to date. This narrative review aims to provide an overview of primary cardiac osteosarcoma, including its epidemiology, clinical presentation, and current management strategies. Additionally, we highlight several remarkable case reports to …


Targeting The Exonic Circular Ogt Rna/O-Glcnac Transferase/Forkhead Box C1 Axis Inhibits Asparagine- And Alanine-Mediated Ferroptosis Repression In Neuroblastoma Progression, Minxiu Tian, Xiaojing Wang, Dan Li, Xinyue Li, Jiaying Qu, Shunchen Zhou, Liduan Zheng, Qiangsong Tong Jan 2025

Targeting The Exonic Circular Ogt Rna/O-Glcnac Transferase/Forkhead Box C1 Axis Inhibits Asparagine- And Alanine-Mediated Ferroptosis Repression In Neuroblastoma Progression, Minxiu Tian, Xiaojing Wang, Dan Li, Xinyue Li, Jiaying Qu, Shunchen Zhou, Liduan Zheng, Qiangsong Tong

Faculty, Staff and Students Publications

The disruption of ferroptosis, an emerging form of programmed cell death, is crucial in the development and aggressiveness of tumors. Meanwhile, the mechanisms and treatments that control ferroptosis in neuroblastoma (NB), a prevalent extracranial cancer in children, are still unknown. In this study, forkhead box C1 (FOXC1) and O-GlcNAc transferase (OGT) are identified as regulators of asparagine- and alanine-mediated ferroptosis repression in NB. Mechanistically, OGT facilitates FOXC1 stabilization via inducing O-GlcNAcylation in liquid condensates to increase the expression of asparagine synthetase (ASNS) and glutamate pyruvate transaminase 2 (GPT2), resulting in asparagine and alanine biogenesis, and subsequent …


Initiating Insulin Pumps In Youth With New-Onset Type 1 Diabetes: A Quality Improvement Initiative, Mark Rittenhouse, Siripoom Mckay, Rona Sonabend, Grace Kim Jan 2025

Initiating Insulin Pumps In Youth With New-Onset Type 1 Diabetes: A Quality Improvement Initiative, Mark Rittenhouse, Siripoom Mckay, Rona Sonabend, Grace Kim

Faculty, Staff and Students Publications

Introduction: Insulin pump therapy is recommended for youth with type 1 diabetes (T1D) as it enhances quality of life and improves glycemic management. We led a quality improvement initiative to increase insulin pump use in youth younger than 18 years of age with recently diagnosed T1D (duration < 1 y) from a baseline of 17% to 27% from January 2021 to December 2023. As a balancing measure, we evaluated the diabetes-related ketoacidosis (DKA) rate in the same cohort as nonpump users.

Methods: We implemented the following plan-do-study-act cycles: (1) development and implementation of pump initiation algorithm, including minimal safe start criteria and education on ketosis management with pump action plan, (2) establishing clinic follow-up within 90 days of pump start, (3) expansion of the pump algorithm at additional clinic locations, (4) early patient/caregiver education …


Difficulties In Diagnosing Lactose Malabsorption Jan 2025

Difficulties In Diagnosing Lactose Malabsorption

Faculty, Staff and Students Publications

No abstract provided.


Feasibility And Impact Of Knowledge-Based Automated Radiotherapy Treatment Planning In Low- And Middle-Income Countries, Baozhou Sun Jan 2025

Feasibility And Impact Of Knowledge-Based Automated Radiotherapy Treatment Planning In Low- And Middle-Income Countries, Baozhou Sun

Faculty, Staff and Students Publications

Background and purpose: A high-quality treatment planning process is crucial in advanced radiotherapy techniques to ensure adequate dose to the target volume (TV) and sparing of organs at risk (OARs). This process often requires intensive labor, creating barriers for deployment in low- and middle-income countries (LMICs). We aimed to establish the feasibility of implementing knowledge-based auto-planning to facilitate clinical efficiency and increase patient throughput in an LMIC.

Materials and methods: We evaluated 60 randomly selected VMAT manual plans (VMPs), including 10 for each of the following sites: head and neck, oesophagus, breast, prostate, cervical, and rectal cancers. Using the same …


Different Phenotypes With Different Endings-Telomere Biology Disorders And Cancer Predisposition With Long Telomeres Jan 2025

Different Phenotypes With Different Endings-Telomere Biology Disorders And Cancer Predisposition With Long Telomeres

Faculty, Staff and Students Publications

Rare germline pathogenic variants (GPVs) in genes essential in telomere length maintenance and function have been implicated in two broad classes of human disease. The telomere biology disorders (TBDs) are a spectrum of life-threatening conditions, including bone marrow failure, liver and lung disease, cancer and other complications caused by GPVs in telomere maintenance genes that result in short and/or dysfunctional telomeres and reduced cellular replicative capacity. In contrast, cancer predisposition with long telomeres (CPLT) is a disorder associated with elevated risk of a variety of cancers, primarily melanoma, thyroid cancer, sarcoma, glioma and lymphoproliferative neoplasms caused by GPVs in shelterin …


Targeted Analysis Of Dyslexia-Associated Regions On Chromosomes 6, 12 And 15 In Large Multigenerational Cohorts, Michele Mehaffey, Karen G Wigg, Kaitlyn M Price, Oxana Y Naumova, Elizabeth N Kerr, Sharon L Guger, Maureen W Lovett, Elena L Grigorenko, Virginia Berninger, Cathy L Barr, Ellen M Wijsman, Wendy H Raskind Jan 2025

Targeted Analysis Of Dyslexia-Associated Regions On Chromosomes 6, 12 And 15 In Large Multigenerational Cohorts, Michele Mehaffey, Karen G Wigg, Kaitlyn M Price, Oxana Y Naumova, Elizabeth N Kerr, Sharon L Guger, Maureen W Lovett, Elena L Grigorenko, Virginia Berninger, Cathy L Barr, Ellen M Wijsman, Wendy H Raskind

Faculty, Staff and Students Publications

Dyslexia is a common learning impairment with a genetic basis that affects word reading and spelling. An increasing list of loci and genes have been implicated, but analyses to-date have investigated only limited genomic variation within each locus with no confirmed pathogenic variants identified. Our study is the first to comprehensively sequence both coding and cis-acting regulatory regions of such genes in a large study sample. In a collection of >2000 participants in families from three independent sites, we performed targeted capture and comprehensive sequencing of all exons and some regulatory elements of five candidate risk genes (DNAAF4, CYP19A1, DCDC2, …


Optic Nerve Sheath Diameter: Which Axis Should Be Measured?, Andreas Wallin, Mohammad Hirzallah Jan 2025

Optic Nerve Sheath Diameter: Which Axis Should Be Measured?, Andreas Wallin, Mohammad Hirzallah

Faculty, Staff and Students Publications

Background and purpose: Optic nerve sheath diameter (ONSD) measured by point-of-care ultrasound (POCUS) is a commonly used non-invasive estimate of intracranial pressure (ICP). However, methodological variations limit standardization of this promising technique. Different imaging axes are identified as one such source of ONSD POCUS methodological variation. This study aimed to evaluate the agreement and diagnostic accuracy for elevated ICP between transverse and sagittal ONSD measurements.

Methods: We conducted a post-hoc analysis of 213 intensive care patients from three prior studies. ONSD was measured in both transverse and sagittal planes, externally (ONSDext) and internally (ONSDint) of the dura mater. Agreement was …