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Full-Text Articles in Medicine and Health Sciences

The Effect Of Birthweight And Gestational Age On Cognitive Function In Midlife: The Bogalusa Heart Study, Eunsun Gill, David J Libon, Soo Jung Kang, Ileana De Anda-Duran, Lydia A Bazzano, Wei Chen, Camilo Fernandez-Alonso, Emily W Harville Jun 2025

The Effect Of Birthweight And Gestational Age On Cognitive Function In Midlife: The Bogalusa Heart Study, Eunsun Gill, David J Libon, Soo Jung Kang, Ileana De Anda-Duran, Lydia A Bazzano, Wei Chen, Camilo Fernandez-Alonso, Emily W Harville

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Although the relationships between birthweight, gestational age (GA), and cognitive function (CF) before midlife have been demonstrated, the relationships after midlife and potential racial disparities remain inconclusive. This study examined the association between birthweight, GA, and midlife CF stratified by race.

METHOD: 1,032 subjects from the Bogalusa Heart Study (67% Whites, 33% Blacks, mean age 48.1 ± 5.3 years) were studied. Cognition was assessed with tests measuring verbal episodic memory, working memory, attention, graphomotor information processing speed, and global CF. Each test was standardized by sex and age, then averaged. The global CF was computed by averaging all cognitive …


Development Of Recommendations For The Future Of Telehealth Use Among Sexual And Gender Minorities (Sgm), Jeffrey A. Wilhite Jun 2025

Development Of Recommendations For The Future Of Telehealth Use Among Sexual And Gender Minorities (Sgm), Jeffrey A. Wilhite

Dissertations and Theses

It is now well-documented that sexual and gender minoritized individuals (SGMs) face consistent stigmatization from not just the health care system, but also from overarching community, federal, and societal entities. Subsections of the SGM community, like gay men for example, face higher rates of eating disorders, certain cancers, alcoholism, mental illness and even obesity, when compared to heterosexual counterparts. Many of these challenges could be exacerbated by current political administration efforts to silence the community. Ensuring access to clinical care is one way of preserving the health and livelihood of the community. Telehealth, or synchronous, remote based clinical care, can …


Prevalence And Predictors Of Intimate Partner Violence Against Men In Kisumu Slums, Kenya, Elizabeth Akello Odemba, Edward A. Frongillo Jr. Ph.D., Sheri D. Weiser Jun 2025

Prevalence And Predictors Of Intimate Partner Violence Against Men In Kisumu Slums, Kenya, Elizabeth Akello Odemba, Edward A. Frongillo Jr. Ph.D., Sheri D. Weiser

Faculty Publications

Background

Men in sub-Saharan Africa experience intimate partner violence, with few reporting their cases to the legal authorities or coming out for assistance. Consequently, data on the prevalence and drivers of intimate partner violence in different parts of sub-Saharan Africa are inadequate. Therefore, this study was designed to investigate the prevalence and predictors of intimate partner violence against men in Kisumu slums, Kenya.

Methods

This retrospective cross-sectional study included 398 randomly selected men in intimate relationships aged 18–54 years and residing in Kisumu slums. The sampling frame used was from Community Health Volunteers covering the area of study. Data collection …


Ensemble-Based Binding Free Energy Profiling And Network Analysis Of The Kras Interactions With Darpin Proteins Targeting Distinct Binding Sites: Revealing Molecular Determinants And Universal Architecture Of Regulatory Hotspots And Allosteric Binding, Mohammed Alshahrani, Vedant Parikh, Brandon Foley, Gennady M. Verkhivker Jun 2025

Ensemble-Based Binding Free Energy Profiling And Network Analysis Of The Kras Interactions With Darpin Proteins Targeting Distinct Binding Sites: Revealing Molecular Determinants And Universal Architecture Of Regulatory Hotspots And Allosteric Binding, Mohammed Alshahrani, Vedant Parikh, Brandon Foley, Gennady M. Verkhivker

Mathematics, Physics, and Computer Science Faculty Articles and Research

KRAS is a pivotal oncoprotein that regulates cell proliferation and survival through interactions with downstream effectors such as RAF1. Despite significant advances in understanding KRAS biology, the structural and dynamic mechanisms of KRAS allostery remain poorly understood. In this study, we employ microsecond molecular dynamics simulations, mutational scanning, and binding free energy calculations together with dynamic network modeling to dissect how engineered DARPin proteins K27, K55, K13, and K19 engage KRAS through diverse molecular mechanisms ranging from effector mimicry to conformational restriction and allosteric modulation. Mutational scanning across all four DARPin systems identifies a core set of evolutionarily constrained residues …


A Literature-Informed Nutrition Patient Communication Toolkit For Hashimoto’S Thyroiditis, Kieren Ritter Jun 2025

A Literature-Informed Nutrition Patient Communication Toolkit For Hashimoto’S Thyroiditis, Kieren Ritter

Department of Nutrition Student Projects

This project is intended to help bridge the gap in nutrition education and treatment for the autoimmune disease Hashimoto’s thyroiditis (HT). Current research was synthesized and converted into a communication tool for adults diagnosed with HT. The toolkit was based on 33 articles, from three databases, that passed the inclusion and exclusion criteria for analysis. The education toolkit was intended to be practical and valuable for below a high school reading level. The aforementioned articles reviewed the effects of dietary changes on HT with vitamin D, selenium, gluten removal, dietary patterns such as the Mediterranean diet and Autoimmune Protocol, and …


Staff Education On Substance Use Screening In An Outpatient Mental Health Clinic, Kelvin Okwudiogor Jun 2025

Staff Education On Substance Use Screening In An Outpatient Mental Health Clinic, Kelvin Okwudiogor

Walden Dissertations and Doctoral Studies

This DNP project aimed to enhance the quality of care by improving healthcare providers’ knowledge and fostering confidence in the utilization of screening, brief intervention, and referral to treatment (SBIRT). At the practice site, patients were not screened for substance use due to the lack of provider knowledge on evidence-based screening tools. The practice-focused question for this project was, Among healthcare providers in outpatient mental health clinics, does education on the use of the SBIRT screening tool increase their knowledge and skill after educational intervention? The project used a sample of 12 healthcare professionals, including four mental health practitioners and …


The Ecology Of Gender-Based Violence For Syrian Refugee Women In Tripoli And Akkar, Dima Masoud Jun 2025

The Ecology Of Gender-Based Violence For Syrian Refugee Women In Tripoli And Akkar, Dima Masoud

Dissertations and Theses

Lebanon is a country that suffers from multiple economic, political, and health crises. Additionally, the mass displacement of Syrian refugees to Lebanon after the war in Syria over a decade ago has left Syrian refugees vulnerable, including the vulnerability of Syrian refugee women to gender-based violence (GBV). While these conditions have affected all of Lebanon, this dissertation focuses on the regions of Tripoli and Akkar in northern Lebanon. Tripoli and Akkar are regions that border Syria, which means that an influx of Syrian refugees, mostly unregistered, comes in. While other regions in Lebanon also border Syria, Tripoli and Akkar are …


A Pre–Post Study Evaluating An Online Cbt-Based Intervention To Improve Academic Performance In Students With Low Mood, Suheir Awadalla, E. Bethan Davies, Cris Glazebrook Jun 2025

A Pre–Post Study Evaluating An Online Cbt-Based Intervention To Improve Academic Performance In Students With Low Mood, Suheir Awadalla, E. Bethan Davies, Cris Glazebrook

All Works

Online cognitive-behavioural therapy (CBT)-based interventions have shown the potential to improve the mental health of university students. However, their impact on West Asian cultures and educational achievement has yet to be fully investigated. This study explores the feasibility, acceptability, and potential effectiveness of a self-directed, internet-delivered, cognitive–behavioural skills training programme (MoodGYM) in reducing depression and improving academic performance among university students in the United Arab Emirates (UAE). This exploratory pre- and postintervention study with a historical control group recruited 50 students, having a GPA <2 and self-reporting at least one of two key depressive symptoms, from one UAE university. The results demonstrated that the total Hospital Depression and Anxiety Scale (HADS) depression score (HADS-D) decreased after the intervention (P = 0.004), and the proportion of participants scoring above the cutoff for depression (HADS-D ≥8) decreased from 77.2 to 27.3% (p < 0.001). There was also a significant reduction in HADS-anxiety scores (p < 0.001), and the proportion of participants above the cut-off for anxiety (HADS-A ≥8) decreased from 50% to 11.4% (p = 0.001). GPA improved significantly over time (p < 0.001, d = 1.3), and attendance warnings decreased (p = 0.008, d = 0.6). Most students (79.6%) evaluated MoodGYM as useful, and all students completed at least two MoodGYM modules. This study shows that MoodGYM, a web-based mental health promotion intervention, improves academic achievement in university students with depressive symptoms. Further research is needed to explore how MoodGYM can be best implemented within university settings.


Triterpenoid Cddo-Ea Protects From Hyperglycemia, Hyperinsulinemia, And Obesity By Decreasing Energy Intake, Austin E. Cantu, Cordelia Rasa, Shizue Mito, Denae Cantu, Juan Lopez-Alvarenga, Leslie L. Rivera-Lopez, Israel Rios, Ashley Abrego-Gonzalez, Sara M. Reyna Jun 2025

Triterpenoid Cddo-Ea Protects From Hyperglycemia, Hyperinsulinemia, And Obesity By Decreasing Energy Intake, Austin E. Cantu, Cordelia Rasa, Shizue Mito, Denae Cantu, Juan Lopez-Alvarenga, Leslie L. Rivera-Lopez, Israel Rios, Ashley Abrego-Gonzalez, Sara M. Reyna

School of Medicine Publications

Obesity is a significant factor in the development of type 2 diabetes (T2D). Treatment of obesity is pivotal in the prevention and management of T2D, and the development of new pharmacological therapies are studied for improving insulin resistance and glucose intolerance. Oleanolic acid-derived triterpenoids, 2-cyano-3,12-dioxoolean-1,9-dien-28-oic acids (CDDOs), are studied to elucidate the mechanisms by which they protect against obesity. However, fundamental knowledge gaps remain regarding the physiological and molecular mechanisms by which CDDOs protect against obesity. Our recently published studies showed that CDDO-ethyl amide (CDDO-EA) prevents skeletal muscle inflammation by inhibiting activation of nuclear factor-kappa B (NF-κB) signaling. Moreover, CDDO-EA …


Childhood Myopia Part I: Contemporary Treatment Options., Safal Khanal Dr, Erin S. Tomiyama Dr, Síofra Harrington Dr Jun 2025

Childhood Myopia Part I: Contemporary Treatment Options., Safal Khanal Dr, Erin S. Tomiyama Dr, Síofra Harrington Dr

Articles

Abstract

Childhood myopia is a growing global public health concern. Treatments to control myopia are a priority because myopia, particularly high myopia, poses significant lifelong risks of vision loss from myopia-associated ocular pathologies. Intensive research efforts over the past two decades have led to the development of several effective strategies for controlling myopia in children: increased time outdoors, atropine eye drops, dual-focus and multifocal contact lenses, orthokeratology lenses, and specialized spectacle lenses. While the efficacy of these strategies is variable, evidence is growing regarding the potential benefits of applying these interventions in children with myopia, although none completely halt myopia …


Childhood Myopia Part Ii: Treatment Mechanisms, Emerging Options, And Considerations, Safal Khanal Dr, Erin S. Tomiyama Dr, Síofra Harrington Dr Jun 2025

Childhood Myopia Part Ii: Treatment Mechanisms, Emerging Options, And Considerations, Safal Khanal Dr, Erin S. Tomiyama Dr, Síofra Harrington Dr

Articles

Abstract

The rapidly increasing prevalence of myopia and its association with vision-threatening complications in later life has intensified efforts to identify treatments that can prevent the onset and slow the progression of myopia in children. These efforts have led to the development of several optical, environmental, and pharmacological myopia control treatments. Investigations of additional treatment options are ongoing and have shown great promise for clinical translation. Although significant progress has been made in identifying potential pathways and modes of action of these treatments, a complete mechanistic understanding is still lacking. This critical review article explores the potential mechanisms underlying the …


Staff Education To Registered Nurses On An Inpatient Pediatric Unit Regarding Pediatric Burn Principles, Qwinnetta Janae Stokes Jun 2025

Staff Education To Registered Nurses On An Inpatient Pediatric Unit Regarding Pediatric Burn Principles, Qwinnetta Janae Stokes

Walden Dissertations and Doctoral Studies

The purpose of this staff education project was to improve nurses’ knowledge on burn care using an educational intervention. The project site became the children's hospital designated burn unit. Children with burns were a new patient population that the project unit had never cared for, and there was no formal training or competencies for nurses caring for these patients. Nurses requested formal education before being expected to care for these patients. This project utilized a single group, pre-post design comparing knowledge of bedside surgical nurses about pediatric burn care management principles before and after the educational intervention. The intervention was …


A Cascading Effects Model Of Early Sensory Development In Autism, Natalie Russo, Carissa J. Cascio, Grace T. Baranek, Tiffany G. Woynaroski, Zachary J. Williams, Shulamite A. Green, Roseann Schaaf Jun 2025

A Cascading Effects Model Of Early Sensory Development In Autism, Natalie Russo, Carissa J. Cascio, Grace T. Baranek, Tiffany G. Woynaroski, Zachary J. Williams, Shulamite A. Green, Roseann Schaaf

Department of Occupational Therapy Faculty Papers

Autism has historically been defined by the presence of differences in social communication and restricted, repetitive patterns of behavior, interests, or activities (RRBs). Since 2013 when the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders was published, sensory features were added as one of the polythetic restricted and repetitive behavior diagnostic criteria of autism, though it has remained understudied. Here, we summarize theory and research to provide support for the perspective that early sensory functions and experiences play a primary role in autism and have downstream effects on social communication and repetitive behavioral features of autism. The …


Infectious Endophthalmitis: An Overview Of Clinical Features, Microbiology Profile, And Antibiotic Sensitivity Pattern, Seyed Ali Tabatabaei, Ahmad Masoumi, Arash Mirzaei, Reza Mirshahi, Bita Momenaei, Faezeh Moghimpour Bijani, Ali Rashidinia, Mohammadreza Nazari, Mohammad Ahadifard, Zahra Mahdizad, Samer Habeel, Seyed Mahbod Baharnoori, Mohammad Soleimani Jun 2025

Infectious Endophthalmitis: An Overview Of Clinical Features, Microbiology Profile, And Antibiotic Sensitivity Pattern, Seyed Ali Tabatabaei, Ahmad Masoumi, Arash Mirzaei, Reza Mirshahi, Bita Momenaei, Faezeh Moghimpour Bijani, Ali Rashidinia, Mohammadreza Nazari, Mohammad Ahadifard, Zahra Mahdizad, Samer Habeel, Seyed Mahbod Baharnoori, Mohammad Soleimani

Wills Eye Hospital Papers

PURPOSE: To describe the demographic characteristics, etiology, microbiological spectrum, and antibiotic sensitivity patterns in patients with endophthalmitis.

METHODS: This is a retrospective case series spanning from May 2012 to September 2018. All included patients were diagnosed with endophthalmitis and confirmed by laboratory tests. Data were collected on patient demographics, types of endophthalmitis, and microbiologic and medical records.

RESULTS: Nine hundred ninety-two records of patients with endophthalmitis were assessed. Of the total cases, 657 patients (66.2%) were male, whereas 335 (33.8%) were female. The mean age of the patients was 57.2 ± 22.8 years and ranged from 2 to 95 years. …


Mutual Suppression Between Mutations In The Dictyostelium Greenbeard Pathway Restores Wild-Type Development, Mariko Katoh-Kurasawa, Lena Trnovec, Peter Lehmann, Blaž Zupan, Gad Shaulsky Jun 2025

Mutual Suppression Between Mutations In The Dictyostelium Greenbeard Pathway Restores Wild-Type Development, Mariko Katoh-Kurasawa, Lena Trnovec, Peter Lehmann, Blaž Zupan, Gad Shaulsky

Faculty, Staff and Students Publications

Background: The Dictyostelium greenbeard pathway is mediated by two polymorphic transmembrane proteins, the TgrC1 ligand and the TgrB1 receptor. These proteins mediate allorecognition, altruism, and the developmental transition to multicellularity. A genetic suppressor screen revealed activating mutations in tgrB1 and inactivating mutations in rapgapB, a regulator of the GTPase protein RapA. Inactivation of either tgrB1, tgrC1, or rapgapB leads to developmental defects, but the respective double-mutant strains rapgapB-tgrB1- and rapgapB-tgrC1- develop well and produce spores. This mutual suppression could result from inducing an alternative pathway or from restoring wild-type development, but morphological analyses alone could not resolve this question.

Results: …


Variants In Bsn, Encoding The Presynaptic Protein Bassoon, Result In A Distinct Neurodevelopmental Disorder With A Broad Phenotypic Range, Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison, Katie R Sullivan, Zornitza Stark, Natasha J Brown, Sajel L Kana, Anabelle Tuttle, Jair Tenorio, Pablo Lapunzina, Julián Nevado, Marie T Mcdonald, Courtney Jensen, Patricia G Wheeler, Lila Stange, Jennifer Morrison, Boris Keren, Solveig Heide, Meg W Keating, Kameryn M Butler, Mike A Lyons, Shailly Jain, Mehdi Yeganeh, Michelle L Thompson, Molly Schroeder, Hoanh Nguyen, Jorge Granadillo, Kari M Johnston, Chaya N Murali, Katie Bosanko, T Andrew Burrow, Chop Birth Defects Biorepository, Penn Medicine Biobank, Syreeta Morgan, Deborah J Watson, Hakon Hakonarson, Ingo Helbig Jun 2025

Variants In Bsn, Encoding The Presynaptic Protein Bassoon, Result In A Distinct Neurodevelopmental Disorder With A Broad Phenotypic Range, Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison, Katie R Sullivan, Zornitza Stark, Natasha J Brown, Sajel L Kana, Anabelle Tuttle, Jair Tenorio, Pablo Lapunzina, Julián Nevado, Marie T Mcdonald, Courtney Jensen, Patricia G Wheeler, Lila Stange, Jennifer Morrison, Boris Keren, Solveig Heide, Meg W Keating, Kameryn M Butler, Mike A Lyons, Shailly Jain, Mehdi Yeganeh, Michelle L Thompson, Molly Schroeder, Hoanh Nguyen, Jorge Granadillo, Kari M Johnston, Chaya N Murali, Katie Bosanko, T Andrew Burrow, Chop Birth Defects Biorepository, Penn Medicine Biobank, Syreeta Morgan, Deborah J Watson, Hakon Hakonarson, Ingo Helbig

Faculty, Staff and Students Publications

Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders (NDDs) and epilepsy. Here, we describe 14 individuals with de novo disruptive variants in BSN, which encodes the presynaptic protein Bassoon. To expand the phenotypic spectrum, we identified 15 additional individuals with protein-truncating variants (PTVs) from large biobanks. Clinical features were standardized using the Human Phenotype Ontology (HPO) across all 29 individuals, which revealed common clinical characteristics including epilepsy (13/29, 45%), febrile seizures (7/29, 25%), generalized tonic-clonic seizures (5/29, 17%), and focal-onset seizures (3/29, 10%). Behavioral phenotypes were present in almost half of all individuals (14/29, 48%), …


Clinical Practice Guideline For Systemic Lupus Erythromatosus And Lupus Nephritis, Seleaina A. Thomas Jun 2025

Clinical Practice Guideline For Systemic Lupus Erythromatosus And Lupus Nephritis, Seleaina A. Thomas

Walden Dissertations and Doctoral Studies

Summary This project addressed the critical practice problem of delayed and inaccurate diagnosis of systemic lupus erythematosus (SLE), which has been linked to increased morbidity and mortality, particularly among marginalized populations. These diagnostic challenges have been recognized globally, with international research highlighting inconsistencies in care and the absence of standardized guidelines. Implementing inclusive and equitable clinical practice guidelines (CPGs) that consider social determinants of health, political determinants of health and actively involve diverse populations in research can play a crucial role in reducing racial disparities and improve outcomes for all lupus patients. Thus, the development of a CPG focused on …


Standardizing Discharge Planning To Reduce Readmission Rates In Outpatient Mental Health Clinics, Navasha Martin Jun 2025

Standardizing Discharge Planning To Reduce Readmission Rates In Outpatient Mental Health Clinics, Navasha Martin

Walden Dissertations and Doctoral Studies

Psychiatric readmission rates remain a major concern in outpatient mental health clinics, often resulting from inconsistent discharge practices and limited patient education. This Doctor of Nursing Practice (DNP) project aimed to develop and evaluate a clinical practice guideline (CPG) to standardize discharge planning and reduce psychiatric readmission rates. Guided by the question: Does evidence support the quality of an evidence-based standardized discharge planning protocol to reduce readmissions?, this project integrated findings from a structured literature review and expert panel evaluation. The CPG was developed using evidence-based strategies and evaluated using the AGREE II instrument, a validated tool for assessing the …


The Relationship Between Food Label Comprehension And Consumer Dietary Choices, Marline Denis Jun 2025

The Relationship Between Food Label Comprehension And Consumer Dietary Choices, Marline Denis

Walden Dissertations and Doctoral Studies

Poor dietary choices and limited understanding of nutritional information are ongoing public health concerns that contribute to the rise of chronic illnesses such as obesity, diabetes, and heart disease. This quantitative, cross-sectional, correlational study investigated the associations between health literacy and food label comprehension with consumer dietary choices and adherence to dietary guidelines among individuals aged 16 and older in the United States. Guided by the Nutrition Label Literacy (NLL) framework, this study explored whether components such as basic nutritional knowledge, numeracy skills, health motivation, and label usage predict healthier food choices. Age, education, and gender were included as covariates. …


Translucency And Stain Resistance Of A Light Cured Pontic Paste, Ahmed Abumustafa Jun 2025

Translucency And Stain Resistance Of A Light Cured Pontic Paste, Ahmed Abumustafa

All ETDs from UAB

Objectives: Light-cured pontic pastes can be applied to the internal aspect of clear retainer/aligner trays at sites of missing teeth. Ideally, the pontic tooth should appear visually opaque and resist staining. The aim of this study was to determine if the number of coats of the paste will affect its translucency and stain resistance. Materials and Methods: 12mm diameter discs of a biocryl clear retainer material (Clear Splint) (n=10) were punch-cut. Light-cure pontic paste (Perfect-A-Smile Pontic) was applied to one side of the biocryl discs in 1, 2, 3 or 4 coats (200-400g /coat). The paste was light cured between …


Decoding Readiness For Clinical Practicum: Undergraduate Nursing Students’ Perspectives, Clinical Evaluations, And Comparative Curriculum Variations, Imad Maalouf, Wafaa El Zaatari Jun 2025

Decoding Readiness For Clinical Practicum: Undergraduate Nursing Students’ Perspectives, Clinical Evaluations, And Comparative Curriculum Variations, Imad Maalouf, Wafaa El Zaatari

All Works

Background: Nursing students’ readiness for clinical practicums is critical to nursing education. Concerns about students’ preparedness for clinical courses have emerged due to increased student-to-educator ratios and limited hands-on practice time. Moreover, feedback from clinical instructors reveals that many student nurses lack the necessary knowledge and skills for patient care, thereby raising questions about their readiness for clinical practicum. Purpose: This study investigates undergraduate nursing students’ readiness for clinical practicum in the UAE by examining their perspectives, the variation in clinical study plans across different contexts, and the evidence gathered from clinical evaluations. Methodology: A case study design was adopted, …


Loss Of Function Of The Zinc Finger Homeobox 4 Gene, Zfhx4, Underlies A Neurodevelopmental Disorder, María Del Rocío Pérez Baca, María Palomares-Bralo, Michiel Vanhooydonck, Lisa Hamerlinck, Eva D'Haene, Sebastian Leimbacher, Eva Z Jacobs, Laurenz De Cock, Erika D'Haenens, Annelies Dheedene, Zoë Malfait, Lies Vantomme, Ananilia Silva, Kathleen Rooney, Xiaonan Zhao, Amir Hossein Saeidian, Nichole Marie Owen, Fernando Santos-Simarro, Roser Lleuger-Pujol, Sixto García-Miñaúr, Itsaso Losantos-García, Björn Menten, Gaia Gestri, Nicola Ragge, Bekim Sadikovic, Elke Bogaert, Kris Vleminckx, Thomas Naert, Delfien Syx, Bert Callewaert, Sarah Vergult Jun 2025

Loss Of Function Of The Zinc Finger Homeobox 4 Gene, Zfhx4, Underlies A Neurodevelopmental Disorder, María Del Rocío Pérez Baca, María Palomares-Bralo, Michiel Vanhooydonck, Lisa Hamerlinck, Eva D'Haene, Sebastian Leimbacher, Eva Z Jacobs, Laurenz De Cock, Erika D'Haenens, Annelies Dheedene, Zoë Malfait, Lies Vantomme, Ananilia Silva, Kathleen Rooney, Xiaonan Zhao, Amir Hossein Saeidian, Nichole Marie Owen, Fernando Santos-Simarro, Roser Lleuger-Pujol, Sixto García-Miñaúr, Itsaso Losantos-García, Björn Menten, Gaia Gestri, Nicola Ragge, Bekim Sadikovic, Elke Bogaert, Kris Vleminckx, Thomas Naert, Delfien Syx, Bert Callewaert, Sarah Vergult

Faculty, Staff and Students Publications

8q21.11 microdeletions involving ZFHX4 have previously been associated with a syndromic form of intellectual disability, hypotonia, unstable gait, and hearing loss. We report on 63 individuals-57 probands and 6 affected family members-with protein-truncating variants (n = 41), (micro)deletions (n = 21), or an inversion (n = 1) affecting ZFHX4. Probands display variable developmental delay and intellectual disability, distinctive facial characteristics, morphological abnormalities of the central nervous system, behavioral alterations, short stature, hypotonia, and occasionally cleft palate and anterior segment dysgenesis. The phenotypes associated with 8q21.11 microdeletions and ZFHX4 intragenic loss-of-function (LoF) variants largely overlap, although leukocyte-derived DNA shows a mild …


Swi/Snf Atpase Silenced Hlf Potentiates Lung Metastasis In Solid Cancers, Jin Zhou, Austin Hepperla, Jeremy M Simon, Kangsan Kim, Qing Hu, Chuanhai Zhang, Lei Dong, Lianxin Hu, Cheng Zhang, Chengheng Liao, Alice Fang, Yayoi Adachi, Haoyong Fu, Tao Wang, Qian Liang, Fangzhou Zhao, Hongyi Liu, Masashi Takeda, Jun Fang, Hua Zhong, Peter Ly, Lu Wang, Payal Kapur, Lin Xu, Liwei Jia, Srinivas Malladi, James Brugarolas, M Celeste Simon, Bo Li, Qing Zhang Jun 2025

Swi/Snf Atpase Silenced Hlf Potentiates Lung Metastasis In Solid Cancers, Jin Zhou, Austin Hepperla, Jeremy M Simon, Kangsan Kim, Qing Hu, Chuanhai Zhang, Lei Dong, Lianxin Hu, Cheng Zhang, Chengheng Liao, Alice Fang, Yayoi Adachi, Haoyong Fu, Tao Wang, Qian Liang, Fangzhou Zhao, Hongyi Liu, Masashi Takeda, Jun Fang, Hua Zhong, Peter Ly, Lu Wang, Payal Kapur, Lin Xu, Liwei Jia, Srinivas Malladi, James Brugarolas, M Celeste Simon, Bo Li, Qing Zhang

Faculty, Staff and Student Publications

Metastasis is the main cause of cancer-related deaths, yet the underlying mechanisms remain elusive. Here, using clear cell renal cell carcinoma (ccRCC), a tumor type with frequent lung metastases, we conduct an in vivo genome-wide CRISPR-Cas9 screen and identify HLF as a potent suppressor of lung metastasis. HLF depletion enhances ccRCC cell migration and lung metastasis, whereas HLF overexpression abrogates these effects. In ccRCC patients, HLF expression is reduced at metastatic sites and associates with epigenetic silencing mediated by the SWI/SNF ATPase subunit BRG1. HLF levels negatively correlate with migration potential in collagen. Mechanistically, HLF regulates LPXN expression, modulating the …


Senescence Caused By Telomerase Inactivation In Myeloid, Mesenchymal, And Endothelial Cells Has Distinct Effects On Cancer Progression, Joseph Rupert, Zhanguo Gao, Yongmei Yu, Mikhail G Kolonin Jun 2025

Senescence Caused By Telomerase Inactivation In Myeloid, Mesenchymal, And Endothelial Cells Has Distinct Effects On Cancer Progression, Joseph Rupert, Zhanguo Gao, Yongmei Yu, Mikhail G Kolonin

Faculty, Staff and Student Publications

The effects of cell senescence in individual cell populations of the tumor microenvironment (TME) on cancer progression remain unclear. Here, we investigated the effects of cell senescence caused by inactivation of the catalytic subunit of telomerase (Tert) in distinct TME components. We generated genetic Tert knockout (KO) mice driven by the LysM promoter in myeloid cells, by the Pdgfra or Pdgfrb promoter in mesenchymal cells, and by the Tie2e promoter in endothelial cells. We compared the effect of the Tert KOs in syngeneic models of orthotopically grafted E0771 breast adenocarcinoma, RM1 prostate adenocarcinoma, and KPC pancreatic adenocarcinoma. Tumors in LysM-Tert …


Omitting Regional Nodal Irradiation After Response To Neoadjuvant Chemotherapy, Eleftherios P Mamounas, Hanna Bandos, Julia R White, Thomas B Julian, Atif J Khan, Simona F Shaitelman, Mylin A Torres, Frank A Vicini, Patricia A Ganz, Susan A Mccloskey, Peter C Lucas, Nilendu Gupta, X Allen Li, Beryl Mccormick, Benjamin Smith, Rahul D Tendulkar, Vivek S Kavadi, Koji Matsumoto, Samantha Andrews Seaward, William J Irvin, Jolinta Y Lin, Robert W Mutter, Thierry M Muanza, Jannifer Stromberg, Reshma Jagsi, Anna C Weiss, Walter J Curran, Norman Wolmark Jun 2025

Omitting Regional Nodal Irradiation After Response To Neoadjuvant Chemotherapy, Eleftherios P Mamounas, Hanna Bandos, Julia R White, Thomas B Julian, Atif J Khan, Simona F Shaitelman, Mylin A Torres, Frank A Vicini, Patricia A Ganz, Susan A Mccloskey, Peter C Lucas, Nilendu Gupta, X Allen Li, Beryl Mccormick, Benjamin Smith, Rahul D Tendulkar, Vivek S Kavadi, Koji Matsumoto, Samantha Andrews Seaward, William J Irvin, Jolinta Y Lin, Robert W Mutter, Thierry M Muanza, Jannifer Stromberg, Reshma Jagsi, Anna C Weiss, Walter J Curran, Norman Wolmark

Faculty, Staff and Student Publications

Background: The benefit of regional nodal irradiation in the treatment of breast cancer is well established for patients with pathologically positive axillary nodes, but whether it is also beneficial for patients whose nodes become pathologically tumor free (ypN0) after neoadjuvant chemotherapy remains unclear.

Methods: We evaluated whether regional nodal irradiation improves outcomes in patients with biopsy-proven, node-positive breast cancer who reach ypN0 status after neoadjuvant chemotherapy. Patients with breast cancer with a clinical stage of T1 to T3 (tumor size, ≤2 cm to >5 cm), N1, and M0 (indicating spread to one to three axillary lymph nodes but no distant …


Cognition And Behavior In Neurofibromatosis Type 1: Report And Perspective From The Cognition And Behavior In Nf1 (Cabin) Task Force, David H Gutmann, Corina Anastasaki, Aditi Gupta, Yang Hou, Stephanie M Morris, Jonathan M Payne, Jacob Raber, Seth M Tomchik, Linda Van Aelst, James A Walker, Kaleb H Yohay Jun 2025

Cognition And Behavior In Neurofibromatosis Type 1: Report And Perspective From The Cognition And Behavior In Nf1 (Cabin) Task Force, David H Gutmann, Corina Anastasaki, Aditi Gupta, Yang Hou, Stephanie M Morris, Jonathan M Payne, Jacob Raber, Seth M Tomchik, Linda Van Aelst, James A Walker, Kaleb H Yohay

2020-Current year OA Pubs

Individuals with neurofibromatosis type 1 (NF1) are prone to the evolution of neurodevelopmental symptomatology including motor delays, learning disabilities, autism, and attention deficits. Caused by heterozygous germline mutations in the


Psilocybin's Acute And Persistent Brain Effects: A Precision Imaging Drug Trial, Subha Subramanian, Travis Rick Reneau, Demetrius Perry, Ravi Chacko, Timothy O Laumann, Karin Flavin, Christine Horan, Julie Schweiger, Nicholas Metcalf, Eric J Lenze, Abraham Z Snyder, Nico U F Dosenbach, Ginger Nicol, Joshua S Siegel Jun 2025

Psilocybin's Acute And Persistent Brain Effects: A Precision Imaging Drug Trial, Subha Subramanian, Travis Rick Reneau, Demetrius Perry, Ravi Chacko, Timothy O Laumann, Karin Flavin, Christine Horan, Julie Schweiger, Nicholas Metcalf, Eric J Lenze, Abraham Z Snyder, Nico U F Dosenbach, Ginger Nicol, Joshua S Siegel

2020-Current year OA Pubs

Psilocybin (PSIL) is a psychedelic drug and a promising experimental therapeutic for many psychiatric conditions. Precision functional mapping (PFM) combines densely repeated resting state fMRI sampling and individual-specific network mapping to improve signal-to-noise ratio (SNR) and effect size in brain imaging research. We present a randomized cross-over study in which PFM was used to characterize acute and persistent effects of psilocybin or methylphenidate (MTP) on brain networks. Seven healthy volunteers (mean age 34.1 years, SD = 9.8; n = 3 females, n = 6 Caucasians) underwent (1) extensive baseline imaging, (2) imaging beginning 60-90 minutes after drug exposure, and (3) …


Dementia Care: The Role Of Experiential Learning In Nursing Education, Jeannie Simpson Jun 2025

Dementia Care: The Role Of Experiential Learning In Nursing Education, Jeannie Simpson

Wisdom & Compassion: The LUSON Journal

The escalating global prevalence of dementia necessitates enhanced educational strategies to prepare nursing students to care effectively for individuals living with dementia. Traditional methods in nursing education predominantly focus on pharmacological treatments and basic caregiving strategies, often neglecting innovative approaches like the Music & Memory® program, Virtual Dementia Tour®, and Montessori dementia. By including these innovative approaches, future nurses will be better equipped to develop and implement person-centered care for individuals living with dementia to improve their quality of life. The integration of these approaches will also meet the growing demands of dementia care, aligning with global health mandates.


Hope And Blessings: A Homeless Student’S Story, Kennedy Pazos Jun 2025

Hope And Blessings: A Homeless Student’S Story, Kennedy Pazos

Wisdom & Compassion: The LUSON Journal

No abstract provided.


Exploring Prelicensure Bsn Students’ Knowledge Of Mindfulness Meditation Using A Smartphone App To Manage Stress And Promote Resilience: A Qualitative Single Case Study, Beth Kelley, Kara Schacke, Alex Boggs, Shelley Blackwood Jun 2025

Exploring Prelicensure Bsn Students’ Knowledge Of Mindfulness Meditation Using A Smartphone App To Manage Stress And Promote Resilience: A Qualitative Single Case Study, Beth Kelley, Kara Schacke, Alex Boggs, Shelley Blackwood

Wisdom & Compassion: The LUSON Journal

Stress is a detrimental factor in nursing school. Stressors contribute to an unacceptable nursing student attrition rate that has risen to 30% in 2021. The problem is that prelicensure, Bachelor of Science of Nursing (BSN) students' knowledge of mindfulness meditation using a smartphone app to manage stress and promote resilience is not known. Therefore, the purpose of this qualitative case study was to explore pre-licensure, BSN students’ knowledge of mindfulness meditation using a smartphone app to manage stress and promote resilience.