Digital Commons Network^™

Effects Of Exercise Or Diet Or Combined Interventions On Treatment Efficacy Of Chemotherapy For Cancer: A Systematic Review, Cristina Crespo-Garcia, Francesco Bettariga, Dennis R. Taaffe, Carolyn J. Peddle-Mcintyre, John P. Campbell, Emily Jeffery, Anna Maria Markarian, Anita Borsati, Alice Avancini, Sara Pilotto, Daniel A. Galvao, Robert U. Newton

Research outputs 2022 to 2026

Purpose of Review: While exercise and dietary interventions in patients with cancer undergoing chemotherapy have been demonstrated to be safe and feasible and improve patient-reported outcomes, the effects on treatment efficacy have not been widely examined and remain unclear. This review aimed to examine the effects of exercise, dietary, and combined interventions on tumour response and time-to-event outcomes in patients with cancer undergoing chemotherapy. Recent Findings: A systematic review of intervention studies was conducted based on PRISMA guidelines Databases searched were PubMed, Medline, CINAHL, Embase, and Web of Science. Methodological quality and risk of bias were assessed using the RoB2 …

As Effective As You Perceive It: The Relationship Between Chatgpt’S Perceived Effectiveness And Mental Health Stigma, Scott N. Hannah, Deirdre Drake, Christopher D. Huntley, Joanne M. Dickson

Research outputs 2022 to 2026

Individuals are increasingly using artificial intelligence chatbots, such as ChatGPT, to seek conversational support for their personal mental health difficulties. Heightened concerns about mental health stigma may make anonymous, on-demand chatbot interactions more appealing for some than traditional face-to-face support. This study examined if using ChatGPT-4 for personal mental health difficulties is associated with two distinct forms of stigma, anticipated stigma and self-stigma. Our main aim was to investigate if the perceived effectiveness of ChatGPT use for mental health issues mediates the relationship between ChatGPT usage and anticipated stigma and self-stigma. The sample comprised 73 participants, mostly undergraduate psychology students. …

Impact Of Silencing Automated Penicillin Cross-Reactivity Alerts On Perioperative Antibiotic Prescribing And Surgical Site Infection Rates, Michael J Durkin, Joshua Nordman, Alice Bewley, Andrew Atkinson, Jonas Marschall, Helen Newland, Kimberly G Blumenthal

2020-Current year OA Pubs

We evaluated the impact of silencing penicillin cross-reactivity alerts on perioperative antibiotic prescribing and surgical site infections (SSIs) in 6 hospitals using an interrupted time series analysis. Silencing the alerts minimally increased cefazolin prescribing among penicillin allergy labeled patients (sensitivity analysis only;

Method For Generation And Ex Vivo Expansion Of Genetically Edited Mouse Tregs, Sang Jun Han, David M Lonard, Bert W O'Malley

Faculty, Staff and Students Publications

Regulatory T cells (Tregs) play a crucial role in the immune system, and their dysfunction can lead to the development of autoimmune conditions. In cancer, tumors frequently hijack the immunosuppressive function of Tregs to evade immune responses. Due to their central role in key pathological processes, Tregs have gained increasing attention as promising targets for various clinical applications. However, their relative scarcity (∼5% to 10% of CD4+ T cells) and instability presents a technical challenge for research and therapeutic development. In congenic animal models used to investigate autologous cell transfer-based therapies, this challenge is even greater, as Treg donor animals …

Rbm8a Deficiency Causes Hematopoietic Defects By Modulating Wnt/Pcp Signaling, Seth T Jacobson, Emma N Harrison, Kevin Manuel Méndez-Acevedo, Jacalyn S Macgowan, Harrison H Wells, Max S Hiltabidle, Azhwar Raghunath, Jordan A Shavit, Daniela Panáková, Margot L K Williams, Mark D Robinson, Christian Mosimann, Alexa Burger

Faculty, Staff and Students Publications

Thrombocytopenia-Absent Radius (TAR) syndrome is a rare congenital condition with reduced platelets, forelimb anomalies, and variable heart and kidney defects. TAR syndrome is caused by mutations in RBM8A/Y14, a component of the exon junction complex. How perturbing a general mRNA-processing factor causes the selective TAR Syndrome phenotypes remains unknown. Here, we connect zebrafish rbm8a perturbation to early hematopoietic defects via attenuated non-canonical Wnt/Planar Cell Polarity (PCP) signaling. In hypomorphic rbm8a zebrafish, we observe a reduction of cd41-positive thrombocytes. rbm8a-mutant zebrafish accumulate mRNAs with retained introns, including non-canonical Wnt/PCP pathway components resulting in convergent extension defects. We found that reduced rbm8a …

Functional Head Tremor: Contrasting Features With Other Tremor Etiologies

Faculty, Staff and Students Publications

Background: Functional tremor (FT) is considered the most common phenomenology among patients with functional movement disorders (FMDs). Most patients have limb tremor, but they can also present with tremor involving the head and trunk.

Objectives and methods: We aimed to assess the clinical phenomenology of functional head tremor (FHT) and contrast it with features of HT observed in 125 patients with other tremor etiologies (OTE), including 71 patients with essential tremor (ET).

Results: There were 101 consecutive patients (68.3% females) with FT from which n = 36 (35.6%) had FHT. Yes-yes tremor was the most common directionality (47.2%). Functional trunk …

Feasibility Of Expiratory Muscle Strength Training In Individuals With Progressive Supranuclear Palsy, 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 …

A Multimodal Non-Invasive Approach For Intracranial Pressure Assessment: A Single-Center Study, Gabriela Keeton, Neha Dangayach, Alexandra Reynolds, Spyridoula Tsetsou

Faculty, Staff and Students Publications

Background: Intracranial pressure (ICP) monitoring is an integral part of acute brain injury management. While invasive ICP monitoring is the gold standard, there are several medical conditions that preclude its placement. The aim of the present study is to validate a multimodal approach for increasing ICP detection.

Material and methods: In this retrospective study, patients with acute brain injury who had an external ventricular drain (EVD) placement were included. We measured bilateral optic nerve sheath diameter (ONSD) and assessed for optic nerve disk elevation (ONDE) by using ocular ultrasound, bilateral middle cerebral artery pulsatility index (PI) by using transcranial Doppler, …

Exploration Of Zileuton Protective Mechanisms Against Vancomycin-Associated Nephrotoxicity, 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 …

Reproductive Impact Of Immune Checkpoint Inhibitor Therapy In Women With Melanoma, Michael Roth, Susan Shott, Jennifer Mcquade, Laurie J Mckenzie

Faculty, Staff and Students Publications

Objective: To study the reproductive impact of immune checkpoint inhibitor (ICI) therapy in cis-females with melanoma.

Design: Retrospective cross-sectional study that examined the reproductive outcomes of female patients exposed to systemic ICI therapy.

Subjects: Cis-female patients, aged 18-40 years, with advanced-stage melanoma and no prior sterilization procedures or exposure to other systemic antineoplastic therapies who underwent treatment with systemic ICI therapy.

Exposure: Systemic ICI treatment as first-line, only-line therapy for advanced-stage melanoma.

Main outcome measures: Menstrual cycle data, contraceptive use, antimüllerian hormone and follicle-stimulating hormone values, and reproductive outcomes (occurrence of pregnancy) during and after ICI exposure.

Results: There were …

Transoral Robotic-Assisted Removal Of A Submucosal Pyriform Sinus Foreign Body, Adam Szymanowski, Ray Wang

Faculty, Staff and Students Publications

Background: Submucosal foreign bodies of the medial pyriform sinus represent a challenge given limited visualization and difficult retraction with endoscopic approaches, and risk of injury to the recurrent laryngeal nerve with open approaches. Transoral robotic surgery (TORS) offers improved visualization and multiple working arms to facilitate retraction. We present a novel case utilizing the Da Vinci SP system for removal of an embedded fishbone of the medial pyriform sinus.

Results: An 84-year-old woman presented with five days of odynophagia and globus sensation after swallowing a fish bone. Non-contrast computed tomography scan revealed a 3.0 cm submucosal object within the post-cricoid …

Screening For Diabetes After Solid Organ Transplantation: A 10-Year Retrospective Study, Joseph A Spinner, Daniel H Leung, Sridevi Devaraj

Faculty, Staff and Students Publications

Post-transplantation diabetes mellitus (PTDM) is a common and important complication after solid organ transplantation, affecting long-term outcomes. Graft rejection, decreased patient survival, infections and increased cardiovascular risk are associated with PTDM and may arise from both transplant-related and traditional risk factors. Early screening for PTDM is crucial for early detection and management. Despite clinical guidelines recommending regular screening for PTDM, screening rates remain suboptimal. This retrospective study analyzes PTDM screening rates between January 2014-January 2024 among pediatric kidney, liver, heart and lung transplant recipients at a large quaternary academic pediatric transplant center. PTDM screening rates vary by organ type, with …

Differential Microrna Profiling Of Blood L1cam And Bulk Extracellular Vesicles In Bipolar Disorder, Camila N C Lima, Wei Zhang, Marcela Carbajal Tamez, Giselli Scaini, Jair C Soares, Joao Quevedo

Faculty, Staff and Students Publications

Objective: This preliminary study aimed to identify microRNA (miRNA) signatures associated with bipolar disorder (BD) by profiling blood-derived extracellular vesicles (EVs) of both putative neuronal origin and from all sources.

Method: In two parallel studies of individuals with BD and controls (CON), we characterized miRNA expression profiles of blood EVs selected for L1CAM, a putative marker of neuronal origin (n = 20 BD/20 CON), as well as bulk EVs (n = 21 BD/20 CON). For each study, analyses identified miRNAs differentially expressed between groups, followed by functional interrogation and testing for associations with clinical features.

Results: Results of …

Plasma Metabolomic And Proteomic Signatures Of Blood Pressure Management After Bariatric Surgery Among Adolescents, 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 …

Benchmarking Empirical Severity For The Yale-Brown Obsessive Compulsive Scale-Second Edition, Josselyn S Muñoz, Dayan Berrones, Vanessa Zavala Cruz, Andrew D Wiese, Jacey L Anderberg, Renee M Frederick, Tomás Miño, Nuria Lanzagorta, Juan Camilo Restrepo, Marcos E Ochoa-Panaifo, Wayne K Goodman, James J Crowley, Eric A Storch, Matti Cervin

Faculty, Staff and Students Publications

The Yale-Brown Obsessive Compulsive Scale (Y-BOCS) is considered the primary instrument for assessing the presence and severity of obsessive-compulsive disorder (OCD). Conceptual and empirical critiques inspired the development of an updated version of the instrument, the Yale-Brown Obsessive Compulsive Scale-Second Edition (Y-BOCS-II), with a higher ceiling of OCD severity to better differentiate between severe and the most debilitating OCD presentations, among other revisions. The Y-BOCS-II has demonstrated sound psychometric properties across diverse samples. Empirically derived severity benchmarks have been proposed for the original Y-BOCS, yielding somewhat different ranges than what has been commonly used in clinical and research settings, yet …

Corrigendum To “Clinical Characteristics And Longitudinal Associations With Obsessive-Compulsive Disorder In Youth Exposed To Trauma” [J Mood Anxiety Disord 10c (2025) 100117], Jeffrey D Shahidullah, Emily J Bivins, David B Riddle, Ogechi Cynthia Onyeka, Eric A Storch, Wayne K Goodman, Kelli Franco, Justin F Rousseau, D Jeffrey Newport, Karen Dineen Wagner, Charles B Nemeroff

Faculty, Staff and Students Publications

This corrects the article "Clinical characteristics and longitudinal associations with obsessive-compulsive disorder in youth exposed to trauma" in volume 10, 100117.

Publisher Correction: Piezo1 Regulates Meningeal Lymphatic Vessel Drainage And Alleviates Excessive Csf Accumulation, 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, 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, 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?, 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 …

Modeling The Health Impact Of Discontinuing Covid-19 Vaccination During Pregnancy In The Us, Peter J Hotez, Mathew V Kiang

Faculty, Staff and Students Publications

This decision analytical model study estimates the number of avertable COVID-19 hospitalizations in US infants younger than 6 months and pregnant persons with vaccinations during pregnancy.

Gene Therapy Cm-Yapon Protects The Mouse Heart From Myocardial Infarction, 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?, 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, 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 …

Bridging The Gap: From Early Recognition To Timely Referral For Cardiac Implantable Electronic Devices Infections, Christopher B Granger, Andrew Uehlin, Yu-Rong Gao, Zerelda Esquer Garrigos

Faculty, Staff and Students Publications

An increasing number of patients are living with cardiac implantable electronic devices (CIEDs). When a patient with a CIED is hospitalized with concern for infection or positive blood cultures from any source, recognizing and managing a possible CIED infection is critical due to its significant morbidity and mortality risk. Internists are often the first to evaluate these patients and must consider the possibility of an underlying device infection. Gram-positive bacteremia carries a high risk of CIED infection, often necessitating cardiac imaging. In contrast, hematogenous seeding with gram-negative bacteremia is infrequent. Patients with clinical or imaging evidence of device infection should …

The Microstructure Of Metastatic Bone Lesions Suggests Tumor Mediated Alterations In Bone Mineralization, Noah Dover, Andrei Demkov, Morgan Lilly, Guillermo Aguilar, Larry J Suva, Xiang H-F Zhang, Yuxiao Zhou

Faculty, Staff and Students Publications

Breast, prostate and lung cancer cells frequently metastasize to bone, leading to disruption of the bone microstructure. This study utilized mechanical testing coupled with micro-CT imaging, digital volume correlation (DVC), and atomic force microscopy (AFM) nanomechanical testing to examine the mechanical property variations in mouse long bones (tibia) with metastatic lung cancer cell involvement, spanning from the whole-bone scale to the microstructural level. In addition, we also investigated how metastatic invasion alters the morphology of hydroxyapatite nanocrystals in bone at the nanometer scale. The biochemical composition within metastatic lesions was assessed using Raman spectroscopy and correlated with AFM mechanical testing …

Lilrb4 Regulates Circadian Disruption-Induced Mammary Tumorigenesis Via Non-Canonical Wnt Signaling Pathway, Arhit Chakrabarti, Devon J Boland, Tristan Nguyen, James Sampson, Christian Nguyen, Danielle Fails, Yava Jones-Hall, Loning Fu, Gus Wright, Da Mi Kim, James J Cai, Bani Mallick, Alex C Keene, Jeff R Jones, Tapasree Roy Sarkar

Faculty, Staff and Students Publications

Epidemiological studies have shown that circadian rhythm disruption (CRD) is associated with the risk of breast cancer. However, the role of CRD in mammary gland morphology and aggressive basal mammary tumorigenesis and the molecular mechanism underlying CRD-induced carcinogenesis remain unknown. To investigate the effect of CRD on aggressive tumorigenesis, a genetically engineered mouse model of aggressive breast cancer was used. The impact of CRD on the tumor microenvironment was investigated using the tumors from LD12:12 and CRD mice via scRNA-seq, flow cytometry, multiplexing immunostaining, and realtime PCR. The effect of LILRB4-immunotherapy on CRD-induced tumorigenesis was also investigated. Here we investigated …

Biochemical And Clinical Response To A Sulfur-Restricted Diet In Ethylmalonic Encephalopathy, Brandy Rawls-Castillo, Aaron Williams, Charul Gijavanekar, Sarah H Elsea, Xia Wang, Mary Elizabeth M Tessier, Claudia Soler-Alfonso, Fernando Scaglia

Faculty, Staff and Students Publications

Introduction: Ethylmalonic encephalopathy (EE) is an often-severe inborn error of metabolism caused by biallelic variants in the ETHE1 gene leading to impaired detoxification of hydrogen sulfide (H2S). H2S is produced both exogenously by anerobic intestinal bacteria as well as by the endogenous catabolism of the sulfur-containing amino acids methionine and cysteine. Existing therapies including metronidazole, N-acetylcysteine (NAC), and orthotopic liver transplantation (OLT) have been pursued with the objective of reducing or detoxifying exogenously produced H2S. However, strategies to reduce endogenously produced H2S using a methionine and cysteine restricted diet are an understudied therapeutic avenue.

Methods: We performed an open-label, …

Clinical Exome Sequencing Efficacy And Phenotypic Expansions Involving Non-Isolated Congenital Anomalies Of Kidney And Urinary Tract (Cakut+), 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 …

A Transdiagnostic, Multi-Modal Approach To Understanding Apathy: Methodological And Analytical Framework, Seonjoo Lee, Zekai Jin, Edward D Huey, Bryan B Chen, Campbell Le Heron, Sarah R Heibronner, Nora Vanegas-Arroyave

Faculty, Staff and Students Publications

Apathy is characterized by loss of motivation and manifests as a reduction of goal-directed behavior. Apathy is highly prevalent across neurodegenerative diseases, including Alzheimer's Disease (AD) and Parkinson's Disease (PD), and is an important contributor to the disability and reduce quality of life in these conditions. The treatment of apathy remains challenging due to a lack of specific therapies, largely attributed to an incomplete understanding of its cognitive and neuroanatomical underpinnings, crucial for developing targeted interventions. Apathy can be mechanistically studied through effort-based decision-making (EBDM) paradigms, where individuals choose between low- and high-effort tasks for varying reward magnitudes. Anatomically, apathy …