Medicine and Health Sciences Commons^™

Wandering Spleen In A Pediatric Lung Transplant Patient With Filamin A Deficiency: An Incidental Finding, Savannah Ellis Knight, Mayel Yepez Donado, Maria Carolina Gazzaneo

Faculty, Staff and Students Publications

Background: Filamin A (FLNA) deficiency is a known cause of progressive lung disease and need for pediatric lung transplant; however, what may be less well known to lung transplant providers are the extrapulmonary complications of FLNA deficiencies, such as wandering spleen. We present a patient who underwent a lung transplant for FLNA deficiency and later developed posttransplant abdominal pain.

Case presentation: An 11-year-old female who had previously undergone a bilateral lung transplant due to FLNA deficiency, causing progressive lung disease, presented with abdominal pain and diarrhea. The patient's stool was tested for causes of gastroenteritis using a gastrointestinal pathogen panel …

Bacterial Vaginosis Toxins Impair Sperm Capacitation And Fertilization, Shweta Bhagwat, Leila Asadi, Ronald Mccarthy, Juan Ferreira, Ping Li, Ethan Li, Sariela Spivak, Ariana Gaydon, Vaka Reddy, Christy Armstrong, Sydney R Morrill, Hillary Zhou, Amanda L Lewis, Warren G Lewis, Celia M Santi

2020-Current year OA Pubs

STUDY QUESTION: What effect do toxins produced by bacterial vaginosis (BV) bacteria have on sperm function?

SUMMARY ANSWER: BV toxins dysregulate sperm capacitation and intracellular calcium homeostasis, and impair the ability of sperm to fertilize oocytes.

WHAT IS KNOWN ALREADY: In BV, which is linked to infertility, overgrowth of Prevotella and Gardnerella in the vagina is accompanied by elevated concentrations of the toxins lipopolysaccharide (LPS) and vaginolysin (VLY).

STUDY DESIGN, SIZE, DURATION: This was a laboratory study in which human semen samples were collected from consenting healthy donors with normal semen parameters. Mouse sperm samples were obtained from the caudal …

A Large-Scale Multi-Centre Study Characterising Atrophy Heterogeneity In Alzheimer's Disease, Vikram Venkatraghavan, Damiano Archetti, Pierrick Bourgeat, Chenyang Jiang, Mara Ten Kate, Anna C. Van Loenhoud, Rik Ossenkoppele, Charlotte E. Teunissen, Elsmarieke Van De Giessen, Yolande A.L. Pijnenburg, Giovanni B. Frisoni, Béla Weiss, Zoltán Vidnyánszky, Tibor Auer, Stanley Durrleman, Alberto Redolfi, Simon M. Laws, Paul Maruff, Neil P. Oxtoby, Andre Altmann, Daniel C. Alexander, Wiesje M. Van Der Flier, Frederik Barkhof, Betty M. Tijms

Research outputs 2022 to 2026

Previous studies identified atrophy-based Alzheimer's disease(AD) subtypes linked to distinct clinical symptoms, but their consistency across subtyping approaches remains unclear. This large-scale study evaluates subtype concordance using two data-driven approaches. In this work, we analyzed data from n=10,011 patients across 10 AD cohorts spanning Europe, the US, and Australia, extracting regional volumes using Freesurfer. To characterize atrophy heterogeneity in the AD continuum, we developed a two-step approach, Snowphlake (Staging NeurOdegeneration With PHenotype informed progression timeLine of biomarKErs), to identify subtypes and atrophy-event sequences within each subtype. Results were compared with SuStaIn (Subtype and Stage Inference), which jointly estimates subtypes and …

Comparison Of Decision-Making Skill In 360° Video To The Field Setting In Highly Skilled Rugby Union Players, Hannah J. Vawser, Khaya Morris-Binelli, Benjamin Piggott, Sean Müller, Paola Chivers, Evan Dekker

Research outputs 2022 to 2026

Little evidence exists of whether decision-making in immersive 360° video is representative of the field setting in sport. The purpose of this study was to investigate whether decision-making performance of a representative exemplar competition specific skill was similar between 360° video and a field task. Fifteen players from skilled junior rugby union pathways and professional rugby union teams in Australia were recruited to complete a 360° video decision-making choice response task involving four attackers and three defenders. Their decision-making was previously assessed in a similar field decision-making task that was representative of rugby game play. Decision-making was scored according to …

History Informing The Future Of Exercise Oncology, Daniel A. Galvão, Kerry S. Courneya, Alejandro Lucia, Anne M. May, Karen Mustian, Allison B. Warner, Wiskemann Joachim, Karen Wonders, Kathryn H. Schmitz, Robert U. Newton

Research outputs 2022 to 2026

Exercise is increasingly recognized by patients, clinicians, and allied health professionals globally as an important component of cancer care. In this paper, we provide a viewpoint on developments in exercise oncology over the past 4 decades leading up to the creation of the International Society of Exercise Oncology (ISEO). We briefly review research in adult and pediatric cancers from early foundation studies to larger randomized controlled trials published in mainstream oncology journals alongside critical work undertaken in exercise and cancer biological mechanisms. We also discuss potential strengths, weaknesses, opportunities, and threats facing ISEO in becoming a global forum for exercise …

Moderate Coffee And Tea Consumption Is Associated With Slower Cognitive Decline, Stephanie R. Rainey-Smith, Kelsey R. Sewell, Belinda M. Brown, Hamid R. Sohrabi, Ralph N. Martins, Samantha L. Gardener

Research outputs 2022 to 2026

Background: Globally, coffee and tea are consumed extensively, potentially providing neuroprotection through anti-inflammatory and antioxidative stress effects. Objective: This study aimed to investigate associations between coffee and tea intake and cognitive function. Methods: In a longitudinal prospective cohort study, dementia-free (n = 8715; age range 60.0–85.2 years) older adults from the UK Biobank self-reported coffee and tea intake over the previous year; ‘never’, ‘moderate’ (1–3 cups/day), or ‘high’ (≥4 cups/day). Participants completed cognitive assessments at ≥2 timepoints (mean of 9.11 years). Results: Those ‘never’ consuming coffee and ‘moderate’ coffee consumers (β = 0.06, p = 0.005; β = 0.07, p <  0.001, respectively), as well as ‘moderate’ tea consumers and ‘high’ tea consumers (β = 0.06, p = 0.009; β = 0.06, p = 0.003, respectively) had slower fluid intelligence decline. Additionally, those ‘never’ consuming coffee and ‘moderate’ coffee consumers had a slower increase in pairs matching errors (β = −0.05, p = 0.022; β = 0.05, p = 0.013) compared to ‘high’ consumers. Conclusions: ‘Moderate’ coffee, and ‘moderate’ and ‘high’ tea intake may be a protective factor against cognitive decline. Randomized controlled trials are required to establish causal relationships leading to evidence-based recommendations regarding benefits of coffee and tea intake.

Socioeconomic Disadvantage, All-Cause And Cause-Specific Mortality In Patients Treated With Maintenance Dialysis: A Mediation Analysis Of Geographical Inequity And Multimorbidity, Farzaneh Boroumand, Wai H. Lim, Shuvo Bakar, Ryan Gately, Pedro Lopez, Dharshana Sabanayagam, Anita Van Zwieten, Lin Zhu, Germaine Wong, Armando Teixeira-Pinto

Research outputs 2022 to 2026

Rationale & Objective: Social gradient in health (a “social gradient in health” refers to the observed pattern in which individuals with lower socioeconomic status typically experience poorer health outcomes than those with higher socioeconomic status. This indicates that health disparities exist across different social levels, with the most disadvantaged groups experiencing the worst health outcomes) is significant and established in patients with kidney failure, but the pathways of this relationship are unknown. We aimed to assess the mediating effects of multimorbidity and geographical remoteness in the socioeconomic status (SES)-death associations. Study Design: A cohort study. Setting & Participants: All patients …

Tissue-Specific Distribution Of Microplastics In Human Blood And Carotid Plaques: A Paired Sample Analysis, Cancan Cui, Zheng Guo, Yanxi Liu, Ning Han, Jiayin Song, Yuanmei Chen, Yulu Zheng, Chen Sheng, Lois Balmer, Haibin Li, Rui Liu, Lin Liu, Jianshi Du, Zhiyuan Wu

Research outputs 2022 to 2026

Backgrounds: Microplastics (MPs) have been increasingly detected in human tissues, raising concerns about their role in cardiovascular disease. However, their distribution in matched blood and vascular tissues, such as atherosclerotic plaques, remains poorly understood. Methods: Paired blood and carotid plaque samples were analyzed for 12 polymer types of MPs using pyrolysis–gas chromatography–mass spectrometry among twenty patients undergoing carotid endarterectomy. Results: The mean concentration of total MPs was 75.2 μg/g in blood and 432.9 μg/g in plaque. Polyethylene (PE) dominated blood samples (46.5 %), followed by polyvinyl chloride (PVC, 16.8 %) and styrene-butadiene rubber (SBR, 16.3 %). In plaques, MPs were …

Triage Tools To Inform The Prioritisation Of Physical Health Services Following A Diagnosis Of Cancer: A Scoping Review, Georgia L. White, Lauren C. Capozzi, Corey Linton, Adrian Wright, Tamara Jones, Hattie H. Wright, Kate A. Bolam, Elizabeth A. Johnston, Briana K. Clifford, Keegan Bean, Stephanie Brown, Sarah Kolesaric, Mary A. Kennedy, Bryan A. Chan, Grace L. Rose

Research outputs 2022 to 2026

Purpose: Many people face multiple cancer- and treatment-related sequalae. Triage and referral to physical health services can manage such consequences, but a comprehensive understanding of available triage tools is lacking. This review (i) identifies tools used to triage to physical health services, (ii) maps tool characteristics and application outcomes and (iii) summarises existing gaps. Methods: A systematic search was conducted (three databases, April 2024). Articles were included if they used a tool to triage to physical health services. Tools were classified by triaged disciplines (i.e., diet, exercise, physical rehabilitation, multidisciplinary) and screened physical impairments (e.g., malnutrition). Tool characteristics (e.g., triage …

Comparisons Between Different Methods Of Calculating Dynamic Strength Index: Effect On Training Recommendations, Nicholas Joel Ripley, Jack Fahey, Stuart Guppy, Paul Comfort

Research outputs 2022 to 2026

An impulse-based dynamic strength index (iDSI) that constitutes time-dependent force expression in contrast to the common peak force-based DSI (fDSI) may be more insightful when considering training recommendations. However, a limitation of the iDSI is that any change in countermovement jump (CMJ) propulsion phase duration could affect longitudinal comparisons. A fixed duration (e.g., 250ms) iDSI however could overcome this limitation. The purpose of the study was to determine the effect of different methods of calculating DSI (fDSI, iDSI matched, iDSI fixed) on the DSI value and resultant training prioritization. Thirty-seven team sport athletes (female=13, male=25, age=22.2±2.8 years, height=174.4±6.0cm, mass=74.9±11.9kg) performed …

Integrative Supportive Care Trial To Enhance Physical Activity In Malignant Pleural Effusion—Protocol For The Isc-Team/Ample-5 Randomised Controlled Trial, Bianca M. Iacopetta, Chloe Charlesworth, Emily Jeffery, Lauren J. Breen, Ai Ling Tan, Joanne Mcveigh, Kevin Murray, Rob U. Newton, Y. C. Gary Lee, Carolyn J. Peddle-Mcintyre

Research outputs 2022 to 2026

Background: Malignant pleural effusion (MPE) heralds advanced cancer with poor patient outcomes. High symptom burden of weight loss, fatigue, breathlessness, distress, and anxiety leaves many patients unable to participate in desired activities of daily life and is associated with poor outcomes. Freedom from symptoms and maintaining daily activities are the key wishes of patients and carers. For the best outcome, accessible services aimed at prevention and management of malnutrition, care of psychological well-being, and support for increasing physical activity are required. Methods: The Integrative Supportive Care Trial to Enhance physical Activity in Malignant pleural effusion (ISC-TEAM) study is a two-armed, …

Management Of Atypical Haemolytic Uraemic Syndrome With Triggers: Diagnostic And Treatment Algorithms From An Asia-Pacific Perspective, Hee Gyung Kang, Danny Hsu, Noritoshi Kato, Jin Seok Kim, Masayoshi Okumi, Min Hua Tseng, Kun Hua Tu, Desmond Yat Hin Yap, Wai H. Lim

Research outputs 2022 to 2026

Complement-amplifying events/conditions associated with thrombotic microangiopathy (TMA) include pregnancy/postpartum period, severe hypertension, autoimmune diseases, drug exposures, infections and organ transplantation. Some of these ‘triggers’ may exist comorbidly with atypical haemolytic uraemic syndrome (aHUS; a complement-mediated form of TMA), unmask previously undiagnosed aHUS, or occur secondary to aHUS, thus creating a considerable diagnostic challenge. A major goal in patients presenting with TMA is to differentiate complement-mediated aHUS from other causes of TMA such that appropriate targeted treatment with complement 5 (C5) inhibitors can be initiated rapidly to avoid irreversible end-organ damage. To this end, nephrologists and haematologists from Australia, Hong Kong, …

Muscle Creatine Levels And Sprint Performance In Young Adult Vegans And Vegetarians After 7 Days Of Creatine Monohydrate Supplementation, Thomas Christian Bonne, Valentina Arthemalle, Colin Stephen Doherty, Andreas Breenfeldt Andersen, Jacob Bejder, Thomas Ehlers, Henrik Holm-Sørensen, Nikolai Baastrup Nordsborg

Research outputs 2022 to 2026

Athletes use creatine monohydrate (CM) to enhance high-intensity exercise performance by increasing creatine phosphate availability. While CM supplementation is known to raise muscle creatine levels in vegans and vegetarians, its impact on exercise performance remains uncertain. We examined the effects of CM supplementation on muscle creatine content and exercise performance in vegans and vegetarians. In a randomized, double-blind placebo-controlled design, 15 healthy vegans and vegetarians consumed CM (0.3 g/kg/day, n = 7) or placebo (PLA, 0.3 g maltodextrin/kg/day, n = 8) four times a day for 7 days. Before and after supplementation, repeated sprint capacity was determined. Body mass and …

Restricted Social Engagement Is Associated With Depressive Symptoms In Older Chinese Adults: A Nationwide Cross-Sectional Study, Zheng Guo, Yulu Zheng, Yahong Zhu, Huacheng Wang, Jian Geng, Hengrui Liu, Piyong Ma, Lois Balmer, Xingang Li

Research outputs 2022 to 2026

Background and Aims: Social isolation has been linked to depressive symptoms in older adults. Previous studies have shown that greater engagement in social activities is associated with better mental health. However, it remains unclear whether restricted social engagement is related to poorer mental health outcomes. This study examined the association between reduced social activities/networking and the presence of depressive symptoms among community-dwelling older Chinese adults. Methods: During the COVID-19 pandemic, people chose to minimize going out to reduce the risk of infection, creating a natural setting that mimicked a passive intervention of restricted social engagement for community-based individuals. Data were …

Antimicrobial Resistance Of Clostridioides (Clostridium) Difficile In Cambodia, Lengsea Eng, Papanin Putsathit, Su Chen Lim, Jessica M. Chisholm, Deirdre A. Collins, Archie C.A. Clements, Kefyalew Addis Alene, Thomas V. Riley

Research outputs 2022 to 2026

Background/Objectives: Antimicrobial resistance (AMR) remains a major topic of interest in infectious disease management. We studied AMR in Clostridioides difficile isolated in Cambodia. Methods: Agar dilution susceptibility testing was performed according to the CLSI guidelines to determine minimal inhibitory concentrations (MICs) of 10 antimicrobials for 192 isolates of C. difficile from four populations in Cambodia: hospitalised adults, hospitalised children, children from an outpatient department (OPD), and healthy adolescents in the community. Results: Using the CLSI MIC breakpoints for anaerobes and EUCAST breakpoints for C. difficile, all isolates were susceptible to vancomycin, metronidazole, fidaxomicin, and amoxicillin/clavulanic acid, and none were resistant …

Lower Limb Muscle Strength Matters: Effect Of Relative Isometric Strength On Countermovement And Rebound Jump Performance In Elite Youth Female Soccer Players, Jack Fahey, Paul Comfort, Nicholas Joel Ripley

Research outputs 2022 to 2026

Background: Expression of maximal and rapid force in the hip, knee, and plantar flexors is important for athletic performance in female soccer. This study was designed to determine the effect of relative isometric strength in the isometric mid-thigh pull (IMTP) on countermovement jump (CMJ) and rebound jump (CMJ-R) performance in female youth soccer players. Methods: Ninety-six female soccer players (age: 14.1 ± 2.3 years, height: 160.5 ± 9.7 cm, mass: 55.0 ± 10.3 kg) completed three trials of the IMTP, CMJ, and CMJ-R using force plates. Players were categorized as stronger (top quartile, n = 19) and weaker players (bottom …

Plasma Lipidome Dysregulation In Frontotemporal Dementia Reveals Shared, Genotype-Specific, And Severity-Linked Alterations., Yohannes A Ambaw, Peter A Ljubenkov, Shubham Singh, Abdi Hamed, Sebastian Boland, Adam L Boxer, Tobias C Walther, Robert V Farese

Duncan NRI Faculty and Staff Publications

Introduction: Biomarkers are essential for monitoring the progression of frontotemporal dementia (FTD). Although dysregulated brain lipid metabolism, particularly sphingolipids enriched in the nervous system, is a key feature of neurodegeneration, plasma lipids remain underexplored as biomarkers compared to imaging and serum proteins.

Methods: We examined plasma lipidomes using liquid chromatography-tandem mass spectrometry (LC-MS/MS) from individuals carrying pathogenic variants linked to autosomal dominant FTD (GRN, C9orf72, MAPT) and non-carriers.

Results: FTD subjects exhibited increased plasma levels of gangliosides (GM3(d18:1_16:0), GM3(d18:1_24:1)), ceramide Cer(d18:1_23:0), and select polyunsaturated triacylglycerols. In contrast, phosphatidylethanolamine (PE(18:0_24:0) and sphingomyelin (SM(38:0) were reduced. Subtype-specific changes included elevated glucosylsphingosine (GlcSph(d18:1) …

Routine Antenatal Ultrasound By Nurse-Midwives In Rural Kenya: A Pragmatic Trial Assessing Feasibility And Effects Of The Mimba Yangu (My Pregnancy) Project, Claudia Hanson, Lucy Nyaga, Nidhi Leekha, Michaela Mantel, Sarah Kedenge, Caroline Gitonga, Violet Naanyu, Jasmit Shah, Marleen Temmerman

Centre of Excellence in Women and Child Health

Introduction: Task-sharing of obstetric ultrasound between nurse-midwives and doctors has the potential to operationalize the World Health Organization’s recommendation of at least one ultrasound before 24 weeks of gestational age for every pregnant woman. Here, we report on the feasibility, acceptability, and effects of the Mimba Yangu (My Pregnancy) task-sharing approach in rural Kenya.

Methods: We conducted a pragmatic trial including 28 primary care facilities between April 2021 and March 2022, selected based on feasibility criteria. Fourteen facilities received the ultrasound intervention composed of (i) task-sharing with nurse-midwives, (ii) the use of portable ultrasound devices (Lumify™) connected to a tablet, …

Effective Neural Connectivity Deficits During Speech Auditory Feedback Processing In Post-Stroke Aphasia: An Fmri Study, Kimaya Sarmukadam, Vahid Nejati, Roozbeh Behroozmand

Faculty Publications

Post-stroke aphasia often results in significant impairments in speech production and auditory processing, necessitating a deeper understanding of the underlying neural connectivity within sensorimotor networks. In this study, we investigated neural connectivity within sensorimotor networks in individuals with post-stroke aphasia (n = 16) compared to neurotypical controls (n = 16). Functional magnetic resonance imaging (fMRI) data were acquired during speaking and listening tasks, accompanied by normal or randomly pitch-shifted (±100 cents) altered auditory feedback across trials. Dynamic causal modeling and parametric empirical bayes methods were used to analyze effective connectivity. The analysis revealed significant alterations in intrinsic and …

Predicting Clinical Success Of Ct-Based Functional Drained Liver Volume Assessment In Malignant Biliary Obstruction, Ethan Y Lin, Bruno C Odisio, Koustav Pal, Iwan Paolucci, Ryan P Kempen, Nicolas Cardenas, Paige Reed, Ketan Y Shah, Ahmed Awad, Rahul A Sheth, David Fuentes, Alda Tam

Faculty, Staff and Student Publications

Purpose

To compare the predictive accuracy of subjective versus objective assessment of three-dimensional functional drained liver volume (fDLV) for clinical success after percutaneous transhepatic biliary drainage (PTBD).

Materials and Methods

This retrospective study included patients with malignant biliary obstruction and hyperbilirubinemia who underwent de novo PTBD between January 2016 and February 2017. Clinical success was defined as achieving total bilirubin level less than 1.8 mg/dL (30.8 μmol/L) within 30 days after PTBD. Seven interventional radiologists independently categorized subjective fDLV into four groups: less than 30%, 30%–50%, 51%–75%, and greater than 75% of the total liver volume. Objective fDLV was calculated …

Author Correction: Oncolytic Dnx-2401 Virotherapy Plus Pembrolizumab In Recurrent Glioblastoma: A Phase 1/2 Trial, Farshad Nassiri, Vikas Patil, Leeor S Yefet, Olivia Singh, Jeff Liu, Rachel M A Dang, Takafumi N Yamaguchi, Mariza Daras, Timothy F Cloughesy, Howard Colman, Priya U Kumthekar, Clark C Chen, Robert Aiken, Morris D Groves, Shirley S Ong, Rohan Ramakrishna, Michael A Vogelbaum, Simon Khagi, Thomas Kaley, Jason M Melear, David M Peereboom, Analiz Rodriguez, Maxim Yankelevich, Suresh G Nair, Vinay K Puduvalli, Kenneth Aldape, Andrew Gao, Álvaro López-Janeiro, Carlos E De Andrea, Marta M Alonso, Paul Boutros, Joan Robbins, Warren P Mason, Adam M Sonabend, Roger Stupp, Juan Fueyo, Candelaria Gomez-Manzano, Frederick F Lang, Gelareh Zadeh

Faculty, Staff and Student Publications

No abstract provided.

Designing An Electronic Patient-Reported Outcomes Information Infrastructure Supported By The Re-Aim Implementation Framework, Amy C Moreno, Angela Peek, Toshiko S Stein, Kevin R Shook, Sara M Ali, Laia Humbert-Vidan, Aileen Chen, Miriam Lango, Anna Lee, Michael Spiotto, William H Morrison, Adam S Garden, Jack Phan, Steven J Frank, Katherine Hutcheson, David I Rosenthal, Clifton D Fuller, G Brandon Gunn

Faculty, Staff and Student Publications

Objective: Patient-reported outcomes (PROs) contain valuable information that can be leveraged by providers to perform timely interventions and improve quality of life and survival. However, the implementation of electronic PROs (ePROs) remains a challenge from technical and evaluation perspectives. Our objective was to construct a robust electronic health record (EHR)-integrated ePRO information infrastructure founded on RE-AIM (reach-effectiveness-adoption-implementation-maintenance) principles.

Materials and methods: We used Epic Systems as our EHR platform to build the MD Anderson Symptom Index Head and Neck Module (MDASI-HN) for release to all patients undergoing evaluation and/or treatment in our HN Radiation Oncology clinics. RE-AIM metrics were established …

The Antifungal Mechanism Of Entv-Derived Peptides Is Associated With A Reduction In Extracellular Vesicle Release, Giuseppe Buda De Cesare, Melissa R Cruz, Shane A Cristy, Luis A Vega, Robert Zarnowski, Antonino Zito, Shantanu Guha, David R Andes, Danielle A Garsin, Michael C Lorenz

Faculty, Staff and Student Publications

Candida albicans, an opportunistic fungal pathogen, causes systemic and superficial infections, especially in immunocompromised patients. Treatment of fungal infections is complicated by limited antifungal options and the development of drug resistance. Previous work from our group demonstrated the efficacy of the anti-virulence peptide EntV and shorter variants against C. albicans infection in various animal models, including mouse models of oropharyngeal candidiasis and disseminated infection and a rat venous catheter model. However, the mechanism of action, which abrogates fungal virulence without fungicidal or fungistatic activity, has remained unknown. We used a combination of cell biological, biochemical, genomic, and genetic approaches to …

Variants In Cald1, Esrp1, And Rbfox1 Are Associated With Orofacial Cleft Risk, Jenna C Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, Terri H Beaty, Azeez Butali, Carmen J Buxó, Lord J J Gowans, Jacqueline T Hecht, Ross E Long, Lina Moreno, Jeffrey C Murray, Ieda M Orioli, Carmencita Padilla, George L Wehby, Eleanor Feingold, Elizabeth J Leslie-Clarkson, Seth M Weinberg, Mary L Marazita, John R Shaffer

Faculty, Staff and Student Publications

Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many genetic loci harboring OFC-risk variants, there are many unknown genetic determinants of OFC. Furthermore, while the process of embryonic facial development is well characterized, the molecular mechanisms that underly it are not. This represents a major hurdle in understanding how disruptions in these biological processes result in OFC. Thus, we sought to identify novel OFC-risk loci through a genome-wide multi-ancestry study of five nested OFC phenotypes (isolated cleft lip [CLO], isolated cleft palate [CPO], cleft lip and palate …

In Situ Programming Of The Tumor Microenvironment To Alleviate Immunosuppression For Pancreatic Cancer Immunotherapy, Man Sun, Huan Zhang, Yarui Ma, Simiao Wang, Jiayi Chen, Yaxin Cui, Yun Zhang, Siyuan Hu, Dan Zhou, Pengchen Zhang, Yahui Liu, Betty Y S Kim, Wen Jiang, Xiaobing Wang, Zhaogang Yang

Faculty, Staff and Student Publications

Recent studies have highlighted the pivotal role of the cGAS‐STING pathway in cancer immunotherapy. However, clinical trials with cGAS‐STING pathway agonists have faced setbacks thanks to their short biological half‐life, lack of tumor specificity, and potential to promote tumor immune evasion. To address these challenges, a novel exosome‐based drug delivery platform, termed cmExoaCD11b is developed, designed to precisely target and reprogram the tumor microenvironment (TME) in situ for pancreatic cancer immunotherapy. cmExoaCD11b is engineered to encapsulate high copy numbers of IL‐12 mRNA and 2′3’‐cGAMP (cGAMP) and is functionalized with CD11b antibodies for targeted delivery to macrophages. Notably, cmExoaCD11b facilitated the …

Leveraging Existing Cohort Studies Of Mexican Women To Better Understand Hispanic Health And Cancer Risk, Dalia Stern, Liliana Gomez-Flores-Ramos, Britton Trabert, V Wendy Setiawan, Loïc Le Marchand, Henry Gomez, Paul A Scheet, Humberto Parada, Amber Pirzada, Martin Lajous, Leslie V Farland

Faculty, Staff and Student Publications

Background: Hispanics have been historically underrepresented in epidemiologic cancer research. Existing cohort studies focused on recruiting Hispanic participants have been relatively small, making studying cancer outcomes challenging. Therefore, we aimed to compare the distribution of cancer risk factors among Hispanic women of Mexican heritage (HWMH) participating in existing cohorts to explore the possibility of future data pooling efforts.

Methods: We used baseline data of HWMH from three US-based studies, the Mexican American Cohort (MAC; n = 19,797; 2001-2017), the Multiethnic Cohort (MEC; n = 18,007; 1993-1996), and the Hispanic Community Health Study/Study of Latinos (HCHS/SOL; n = 4,022; 2008-2011), and …

Ai-Powered Model For Accurate Prediction Of Mci-To-Ad Progression, Ahmed Abdelhameed, Jingna Feng, Xinyue Hu, Fang Li, Sori Lundin, Paul E Schulz, Cui Tao

Faculty, Staff and Student Publications

Alzheimer's disease (AD) remains a formidable challenge in modern healthcare, necessitating innovative approaches for its early detection and intervention. This study aimed to enhance the identification of individuals with mild cognitive impairment (MCI) at risk of developing AD. Leveraging advances in computational power and the extensive availability of healthcare data, we explored the potential of deep learning models for early prediction using medical claims data. We employed a bidirectional gated recurrent unit (BiGRU) deep learning model for predictive modeling of MCI progression across various prediction intervals, extending up to five years post-initial MCI diagnosis. The performance of the BiGRU model …

Sex Disparities In Chlamydia And Gonorrhea Treatment In Us Adult Emergency Departments: A Systematic Review And Meta-Analysis, Rachel E Solnick, Rahi Patel, Ethan Chang, Carmen Vargas-Torres, Maaz Munawar, Carlin Pendell, Judith E Smith, Ethan Cowan, Keith E Kocher, Roland C Merchant

Faculty, Staff and Student Publications

BACKGROUND: Empiric antibiotic treatment for gonorrhea (GC) and chlamydia (CT) is common in U.S. emergency departments (EDs) due to the delayed availability of test results. Local studies have identified sex-based disparities in sexually transmitted infection (STI) care, with females potentially receiving less empiric treatment than males. This study evaluates how STI treatment aligns with laboratory-confirmed results to quantify potential overtreatment and undertreatment rates and investigates sex differences for these outcomes.

METHODS: We conducted a preregistered (PROSPERO #241429) systematic review and meta-analysis of studies published between January 2010 and January 2025 in U.S. EDs, excluding studies conducted exclusively in pediatric settings. …

The Late Positive Potential Predicts Contingency Management Outcomes For Cocaine Use Disorder, Heather E Webber, Douglas J Calvillo, Francesco Versace, Constanza De Dios, Robert Suchting, Charles E Green, Scott D Lane, Joy M Schmitz

Faculty, Staff and Student Publications

Contingency management (CM) relies on motivation and reward processing and is among the most effective treatments available for cocaine use disorder (CUD), yet success rates do not meet desired clinical efficacy. To improve treatment-individual fit, we investigated the late positive potential (LPP), a measure of incentive salience to cues, as a predictor of treatment response. Treatment-seeking adults with CUD (N = 58) completed an EEG task where they viewed pleasant, unpleasant, cocaine, and neutral images. Participants received CM and counseling for four weeks. Urine was collected thrice weekly. We defined incentive salience to cues by A) cluster analyses on LPP …

Corrigendum To " Igf-1r Inhibitors In Cancer: A Review Of Available Evidence And Future Outlook" [Crit Rev Oncol/Hematol 214 (2025) 104809], Deniz Can Guven, Jibran Ahmed, Bettzy Stephen, Aung Naing

Faculty, Staff and Student Publications

No abstract provided.