Digital Commons Network^™

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

Faculty, Staff and Students Publications

Background:

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

Methods and Results:

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

The Ladies' Home Journal: Dormant Seeds Of The Feminine Mystique Pre-Wwii, Isis Santos Villaça

University Honors Theses

At the turn of the 20th century, magazines were becoming increasingly available to the middle class. Throughout the 1890–1930s, the industry put forth an entire new iteration of publications that came to be popular with female readers. One of the most successful publications from this period, The Ladies' Home Journal, distinguished itself through its strong editorial presence on the page. The editors of the Ladies' Home Journal intended to create a "traditional" female identity that reflected domesticity in the journal, which countered the rising notions of the New Woman. Simultaneously, the publication aimed to create an educational product with …

The Impact Of Macroeconomic Variables On Property Prices In Malaysia During The Covid-19, Nurin Nayli Ahmad, Nurul Sima Mohamad Shariff, Aldo Eko Syaputra

Malaysian Journal of Computing (MJoC)

The housing market is a critical driver of economic growth and a source of financial stability. In Malaysia, residential property prices are influenced by a range of macroeconomic factors, including Gross Domestic Product (GDP), exchange rates, unemployment rates, and wage levels. The COVID-19 pandemic introduced significant disruption and volatility to the Malaysian economy, making it essential to understand the relationships between these factors and property prices. The pandemic's economic challenges, coupled with rising property prices, have exacerbated housing affordability issues. While previous studies focused on long-term trends (1991–2019), there is a gap in understanding the high-frequency (monthly) volatility specifically during …

Lru Caching Policy Based On Naïve Bayes Ml Algorithm In Collaborative Peer-To-Peer Systems For Network Bandwidth Utilization, Waheed Yasin

Malaysian Journal of Computing (MJoC)

Web caching offers several advantages, such as increasing cache hit rates, lowering the workload on origin servers, and minimizing network traffic. Nevertheless, limited cache capacity poses a major challenge in web caching systems. Moreover, repeatedly fetching same media objects from origin servers leads to unnecessary bandwidth consumption. Furthermore, traditional caching policies, including Least Recently Used (LRU), are vulnerable to cache pollution. This study introduces a collaborative caching policy based on the Naïve Bayes (NB) Machine Learning (ML) algorithm. The proposed policy exploits structured peer-to-peer architectures, allowing cache contents to be shared among peers to improve the efficiency of LRU web …

Teacher Readiness And Attitudes Toward Digital Technology In Mathematics Classrooms, Nor Anis Amierah Mhd Pizor, Zarith Sofiah Othman

Malaysian Journal of Computing (MJoC)

This study explores how digital technology is integrated into mathematics education, focusing on the views of secondary school mathematics teachers and using a quantitative research method through a survey. Descriptive and inferential statistical analyses were performed to examine the factors influencing technology adoption, identify its barriers, and suggest strategies for enhancement. The novelty of this study lies in its development of an integrated perspective that simultaneously examines teachers’ readiness, experiential background, and attitudes alongside systemic constraints such as training, resource availability, and institutional support within the context of mathematics education. However, challenges such as inadequate training, limited resources, and lack …

Examining The Relationship Between It Project Risk Management And Benefits Realized From It Project Implementation Within The Public Sector, Fredick Bitta, Robert Oboko, Christopher Chepken

Malaysian Journal of Computing (MJoC)

Information technology (IT) has become increasingly critical in today's digital world, supporting, sustaining, and driving growth in public organizations. The board of directors and senior management have traditionally delegated, disregarded, or avoided IT decisions. The majority of public sector organizations have realized that such a mindset is outdated and must be avoided. Being a foundation for effective enterprise governance, the IT risk management domain seeks to guarantee that a structure exists for identifying, analyzing, mitigating, monitoring and communicating an organization's IT risk to ensure successful IT project implementation. This research, therefore, sought to examine the relationship between risk management of …

Small Award, Big Ripple, Beryl White-Bing

Library Faculty Presentations & Publications

Innovation in libraries does not always begin with large national grants or major institutional investments. Often, meaningful experimentation begins with small regional funding opportunities that allow librarians to test new ideas and technologies. For academic libraries, these modest awards can serve as catalysts for interdisciplinary collaboration, new teaching tools, and innovative research partnerships.

The Effectiveness Of A Story-Based Counseling Program In Enhancing Spiritual Intelligence Skills Among First-Grade Students In The Sultanate Of Oman, Maryam Said Sulaiman Ai Siyabi, Amina Benkouider Samad, Sherif Al-Saudi

Journal of Educational and Psychological Studies

This study aimed to examine the effectiveness of a story-based counseling program in developing spiritual intelligence skills among first-grade students in the Sultanate of Oman. The researchers adopted a quasi-experimental approach and applied tools including a spiritual intelligence scale and a specially designed counseling program to achieve the study’s objectives. The study sample consisted of 48 male and female students from Ibra Basic Education School, randomly divided into two groups: an experimental group (22 students) who received the counseling program consisting of 12 sessions over six weeks, and a control group (26 students) who did not receive any intervention. The …

The Effectiveness Of The Fishbowl Strategy Int Eaching Mathematics On Developing Creative Thinking For Fourth Grade Students In Basic Education In Dhofar Governorate, Sabah Abdalla Elsayed, Najawa Said Al-Hatmi

Journal of Educational and Psychological Studies

The fishbowl technique improves the sharing of ideas in a structured conversational environment, adding depth and excitement to creative thought; it further promotes active observation and a secure discussion atmosphere, fostering the development of innovative solutions among learners, therefore; the current research aims to investigate the effectiveness of the Fishbowl strategy as one of the active learning strategies in teaching mathematics to develop creative thinking among fourth-grade students in basic education in Dhofar Governorate. An experimental approach with a quasi-experimental design was applied, where a sample consisting of two groups was selected: an experimental group (which studied using the Fishbowl …

Digital Citizenship Among Middle School Students In Oman: A Study Considering Various Variables, Suad Saleh Al Wahaibi, Khalfan Zahran Al-Hijji, Raja Maznah Raja Husain

Journal of Educational and Psychological Studies

This study examined the level of digital citizenship (DC) among grade 10 students in Oman with respect to gender, internet usage duration, and exposure to online threats. A total of 1,022 students participated during the 2022/2023 academic year. The study employed a questionnaire constructed on Ribble’s (2015) Respect, Educate, and Protect (REP) model and applied a random cluster sampling technique. Results revealed that students’ DC level was moderate overall. No statistically significant difference was found between male and female students, while there were significant differences in DC scores in terms of facing online threats and in terms of internet usage …

The Digital Dilemma: Social Media’S Influence On Children’S Well-Being In Developing Nations: A Systematic Literature Review, Hilal Hamed Al Busaidi, Ayman Al Shukri, Moosa Al Shukaili, Yahya Al Niyadi, Adil H Al Kindi

Journal of Educational and Psychological Studies

Social media has become an integral part of the lives of teenagers and children, particularly in developing countries. Though it opens avenues for communication and expression, it also plays a serious role in mental health. This paper conducts a systematic literature review (SLR) of published studies from 2015 to 2025, utilizing the databases of PubMed, Scopus, and Web of Science, to assess the impact of social networking sites on the mental health of children’s populations in low- and middle-income countries. The review identifies three concern areas: cyberbullying, increased anxiety and depression rates, and socioeconomic factors’ effects. Literature suggests that adolescents …

The Effectiveness Of A Group Counseling Program Based On Acceptance And Commitment Therapy In Reducing The Level Of Nomophobia Among Ninth Grade Female Students In Muscat Governorate, Samya Hamed Al Harthi, Manal Khasib Al Fazari, Amal Mohamed Al Hadabi

Journal of Educational and Psychological Studies

The study aimed to verify the effectiveness of a group counselling program based on acceptance and commitment therapy (ACT) in reducing the level of nomophobia among ninth-grade female students in Muscat Governorate. To reach the objectives of the study, the interactive electronic nomophobia scale and the group counselling program based on acceptance and commitment therapy were used. The program consisted of twelve counselling sessions. The study followed the quasi-experimental approach with control and experimental groups, with pre- and post-test and a follow-up test. The study sample consisted of female students, distributed equally into two control and experimental groups. The results …

The Impact Of Voluntary Tipping Vs. Mandatory Service Charges, Ainsley Gauthier

Undergraduate Honors Theses

This study examines the impact of voluntary tipping compared to mandatory service charges on consumer satisfaction. An analysis was conducted which contained data from restaurants based in the coastal region of southern California. The dataset utilizes a citizen-curated list compiled of restaurants that impose mandatory service charges alongside a list of restaurants. This second list is compiled of restaurants that offer comparable cuisine and pricing but contrasting tipping practices. Restaurants that impose mandatory service charges of 15% or 20% were compared to restaurants that use traditional voluntary tipping. This study uses Yelp star reviews to measure consumer satisfaction. The study …

Investigating The Effects Of Glycosuria On Metabolism Of Klebsiella Pneumoniae, Reese Provost

Undergraduate Honors Theses

This thesis contains original research and data from a set of experiments. The research being conducted focuses on how nutrient metabolism changes for the Klebsiella pneumoniae bacterium while it is in the diabetic urinary environment. K. pneumoniae has seen recent trends in hospital-related urinary tract infections, and is an ESKAPE group pathogen, which has been observed to have increased antibiotic resistance in recent decades. It has also been observed that patients with diabetes are more likely to contract urinary tract infection. The specific strain of K. pneumoniae being studied is TOP52. The experiments involve the bacteria being cultured in nutrient …

The School-To-Prison Pipeline: A Crisis In Education And Justice, Abbey A. Poirier

Undergraduate Honors Theses

This honors thesis analyzes how school discipline polices, teacher perspectives, and academic factors contribute to the school-to-prison pipeline (STPP) in three Southern Louisiana parishes. Informed by General Strain Theory and Social Control Theory, the study explores how punitive environments, weak teacher-student relationships, and unmet academic or emotional needs increase the probability that students, particularly marginalized groups, are pushed out of instructional space and toward exclusionary systems such as detention centers. This project is based on a mixed-methods design using a comprehensive literature review with a teacher questionnaire distributed across Pre-K-12 schools in Lafayette, Vermilion, and St. Martin Parishes. Quantitative findings …

Technology-Assisted Total Hip Arthroplasty: A Contemporary Analysis Of Regional Trends, National Trends, And 90-Day Outcomes In A Nationwide Cohort, Amy Y Zhao, Alex Gu, Gireesh Reddy, Bryant M Song, Ilya Bendich, Andrew M Schneider

2020-Current year OA Pubs

BACKGROUND: Technology-assisted total hip arthroplasty (THA)-including computer-navigated and robotic-assisted techniques-has emerged as a strategy to enhance component alignment and potentially improve postoperative outcomes. Although prior studies have described increasing utilization, contemporary trends and associated complication rates remain underexplored.

METHODS: A retrospective cohort study was conducted using a large national database to identify patients who underwent primary elective THA between 2010 and 2023. Patients were stratified into conventional vs technology-assisted THA groups, with the latter defined by the use of computer navigation or robotic assistance. Annual utilization trends were evaluated using linear regression, and 90-day postoperative complications were compared using multivariate …

Acute Myocardial Infarction In Medicare Beneficiaries During And After The Covid-19 Pandemic, Jonah M Graves, R J Waken, Fengxian Wang, Rishi K Wadhera, Jose F Figueroa, E John Orav, Osvaldo J Laurido-Soto, Karen E Joynt Maddox

2020-Current year OA Pubs

IMPORTANCE: During early months of the COVID-19 pandemic, presentations for acute myocardial infarction (AMI) declined significantly, and outcomes worsened. However, the full extent and long-term sequelae of changes in AMI epidemiology during the pandemic remain uncertain, as does whether these patterns differed by rurality.

OBJECTIVE: To describe the epidemiology of AMI-related hospitalizations, interventions, and outcomes among Medicare beneficiaries throughout the COVID-19 pandemic, focusing on differences in urban and rural populations.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study included all Medicare fee-for-service beneficiaries with AMI between January 1, 2018, and December 31, 2023, in the analysis. Data were analyzed from …

Clostridioides Difficile Colonization And Infection In Pediatric Oncology And Stem Cell Transplant Patients, Daniel N Willis, Erik R Dubberke, Robert J Hayashi, Phillip I Tarr, David B Haslam, Tiffany Hink, Jingqin Luo, Yu Tao, Amruta Padhye, Erin M Hall, Gregory A Storch

2020-Current year OA Pubs

BACKGROUND: Pediatric oncology and hematopoietic stem cell transplant (HSCT) patients have elevated risk for

METHODS: We retrospectively studied 276 stools longitudinally collected over 34 months from 32 HSCT and 12 oncology patients treated at a single tertiary center. Specimens were cultured for

RESULTS: Baseline cultures were positive in 16 (50%) HSCT patients and 2 (12%) oncology. On subsequent samples, 64% of patients who were initially negative acquired colonization: 8 of 15 (53%) HSCT and 8 of 10 (80%) oncology. Nine clonal strains and 25 multilocus sequence types were identified by whole genome sequencing, with 4 clones found in both cohorts. …

Relationship Between Clostridioides Difficile Stool Concentration, Nucleic Acid Amplification Test Results, And Environmental Contamination, Mary Morgan Lee, Kimberly A Reske, Tiffany Hink, Skye R S Fishbein, Erin P Newcomer, Candice Cass, Margaret A Olsen, Gautam Dantas, Carey-Ann D Burnham, Erik R Dubberke

2020-Current year OA Pubs

We compared rectal swab nucleic acid amplification testing (NAAT) with stool culture to detect

Performance Of Multiple Multi-Cancer Detection Tests Using A Large Independent Reference Set (Alliance A212102), Marie E Wood, Mark Watson, Et Al.

2020-Current year OA Pubs

BACKGROUND: Reference sets are needed to evaluate performance of multi-cancer detection (MCD) assays. The National Cancer Institute funded the Alliance reference set study to assess MCDs for use in future trials.

METHODS: Individuals with cancer and controls were recruited; blood specimens were collected prior to cancer treatment. A performance evaluation study was designed utilizing reference set samples. Companies (n = 6) were selected to participate based on review of performance data and ability to utilize the blood collection tube. Companies received samples from cancer types their assay was designed to detect ("targeted"), plus additional "non-targeted" and control samples. Companies reported …

Visual Recognition Of The Anteroposterior Female Body Axis Drives Spatial Elements Of Male Courtship In Drosophila, Ross M Mckinney, Christian Monroy Hernandez, Yehuda Ben-Shahar

2020-Current year OA Pubs

Drosophila males exhibit a highly stereotypic courtship ritual toward virgin females, which is comprised of a sequence of specific behavioral elements that depend on inputs from diverse sensory modalities. Particularly, the visual system of the male plays an important role in detecting salient patterns, colors, and motion cues from conspecifics, which can promote or inhibit specific aspects of male courtship such as chase and song production. Here, we use a computer vision and machine learning-based approach, with a simplified courtship paradigm, to show that males also depend on visual cues to determine the anterior-posterior body axis of females, which drives …

Hepatitis C Virus Testing In Perinatally Exposed Children, Rachel L Epstein, Sarah Munroe, Elizabeth A Erdman, Amy Bettano, Megan R Curtis, Laura White, Elisha M Wachman, Anthony Osinski, Alexander Y Walley, Benjamin P Linas

2020-Current year OA Pubs

IMPORTANCE: Despite rising hepatitis C virus (HCV) incidence in pregnant people, studies demonstrate that fewer than 50% of perinatally exposed infants receive HCV testing. Few studies report treatment of infected infants or factors affecting testing.

OBJECTIVE: To identify birthing parent and child factors associated with appropriate HCV testing for perinatally exposed infants and characterize HCV care for children with HCV.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study included records on testing, care, and treatment for Massachusetts children perinatally exposed to HCV between 2014 and 2021 from a statewide health database linking statewide vital statistics, infectious disease surveillance data, substance use …

Mda5-Mavs And Interferon-Lambda Signaling In The Intestinal Epithelium Limit Murine Astrovirus Infection, Heyde Makimaa, Harshad Ingle, Leran Wang, Somya Aggarwal, Hongju Deng, Elizabeth A Kennedy, Lynne Foster, Yuhao Li, Megan T Baldridge

2020-Current year OA Pubs

Human astroviruses (HAstVs) are a global cause of pediatric gastroenteritis and can cause disseminated infection in immunocompromised hosts. Murine astrovirus (muAstV) causes acute asymptomatic infections in immunocompetent mice and chronic infection in immunodeficient models and has provided important insights into AstV pathogenesis in vivo. MuAstV can protect immunodeficient mice from other enteric viruses via robust induction of antiviral cytokine interferon-lambda (IFN-λ), with recent findings implicating goblet cells and enterocytes as both cell types infected by muAstV as well as potential sources of IFN-λ in vivo. However, the viral sensing pathways that regulate induction of IFN-λ, as well as the specific …

Glp-1 Receptor Agonists Or Sglt2 Inhibitors And Nonarteritic Anterior Ischemic Optic Neuropathy, Taeyoung Choi, Ziyad Al-Aly, Yan Xie

2020-Current year OA Pubs

No abstract provided.

Exploring Nurses' Documentation Prioritization Strategies To Alleviate Ehr Documentation Burden: A Phenomenological Study, Rosemary Mugoya, Jennifer Thate, Fan Hao, Sarah C Rossetti, Po-Yin Yen

2020-Current year OA Pubs

OBJECTIVE: This study aims to understand how inpatient nurses determine and prioritize necessary documentation within the context of the Excessive Documentation Burden (ExDocBurden) in Electronic Health Records (EHRs).

METHODOLOGY: A phenomenological approach was used to explore inpatient nurses' lived experiences of prioritizing EHR documentation. Interpretive phenomenology guided the study design, focusing on how nurses prioritize documentation. Purposive sampling recruited 14 registered nurses (RNs) from acute and critical care settings. Data was collected through semi-structured interviews and analyzed using Colaizzi's 7-step and Smith's Interpretive Phenomenology Analysis.

RESULTS: Five themes emerged: (1) Advocating for Quality Patient Care Environment and Patient Needs, (2) …

Multicenter Evaluation Of Ceftazidime/Avibactam In Pediatric Patients Across The United States: Real-World Insights Into The Management Of Drug-Resistant Gram-Negative Infections, Taylor Morrisette, Christine R Lockowitz, Valerie Yuenger, Evan E Facer, Et Al.

2020-Current year OA Pubs

BACKGROUND: Antimicrobial resistance among gram-negative pathogens is a global threat, with children particularly vulnerable due to limited treatment options and age-specific clinical outcomes data. Ceftazidime/avibactam (CZA) is effective against resistant gram-negative bacteria and demonstrates high success rates in adults; however, pediatric data remain limited. This study examined CZA use in children across United States medical centers.

METHODS: This multicenter, retrospective, observational cohort study included pediatric patients (< 18 years) who received ≥48 hours of CZA for suspected or confirmed gram-negative infections between February 2015 and October 2023. The primary outcome was clinical success, defined as occurrence of all 3 components: (1) absence of all-cause mortality within 30 days of CZA initiation, (2) absence of microbiologic and clinical recurrence within 30 days of CZA discontinuation, and (3) resolution or improvement of infection-related signs and symptoms during CZA therapy without modification of therapy due to clinical failure. Secondary outcomes included adverse events attributable to CZA and resistance development to CZA.

RESULTS: One-hundred patients were included, with most receiving CZA for targeted therapy (67%). The median (IQR) age and weight were 9.8 (1.9-15.9) years and 24.2 (12.2-49.9) kg, respectively. Nearly all patients (88%) had …

Automating Evaluation Of Llm-Generated Responses To Patient Questions About Rare Diseases, Min Zhao, Inez Y Oh, Aditi Gupta, Sally Cohen-Cutler, Kathryn M Harmoney, Albert M Lai, Bryan A Sisk

2020-Current year OA Pubs

OBJECTIVES: Patients with rare diseases often struggle to find accurate medical information, and large language model (LLM)-based chatbots may help meet this need. However, evaluating LLM-generated free-text answers typically requires physician review, which is time-consuming and difficult to scale. This study compared traditional natural language processing (NLP) metrics to emerging LLM-based evaluation approaches for assessing answer quality in the context of Complex Lymphatic Anomalies (CLAs).

MATERIALS AND METHODS: We compiled 25 common patients' questions about CLAs and generated 175 responses to these questions from seven LLMs. Three expert physicians scored these responses for accuracy. We compared these physician-assigned scores with …

Intracranial Mesenchymal Tumor, Fet::Creb Fusion-Positive: An Integrative Analysis Of 81 Cases, Sharika Rajan, Robert Schmidt, Et Al.

2020-Current year OA Pubs

BACKGROUND: Intracranial mesenchymal tumors, FET::CREB fusion-positive (ICMT), show fusions involving FET RNA-binding protein family genes (EWSR1 or FUS) and CREB family of transcription factors (ATF1, CREB1, or CREM). The methylation signature(s), gene expression characteristics, and clinical behavior of this important tumor type require further characterization.

METHODS: We study the methylation profiles of 81 ICMT cases (61 newly profiled cases and 20 cases from publicly available sources). Clinicopathologic and genomic data were recorded for each case when available.

RESULTS: ICMT showed a relatively distinct methylation signature compared to related tumors. Among the 65 cases where fusion types were documented, the identified …

Differential Regulation Of Cyclic Adenosine Monophosphate By Phosphodiesterase 3a Discriminates Thrombin-Induced Protease Activated Receptor 1- And 4-Dependent Platelet Activation, Izabella Andrianova, Abigail Ajanel, Jesse W Rowley, Darian C Murray, Yasuhiro Kosaka, Frederik Denorme, Paul F Bray, Robert A Campbell

2020-Current year OA Pubs

BACKGROUND: Human platelets express 2 thrombin-activated G protein-coupled receptors (GPCRs), protease activated receptor (PAR)1 and PAR4. Previous studies have demonstrated PAR1 activation to be fast on-fast off while PAR4 activation was slower but more sustained. However, how PARs regulate second messengers such as cyclic adenosine monophosphate (cAMP), a negative regulator of platelet activation, remain unknown.

OBJECTIVES: This study investigated how PAR1 and PAR4 activation by thrombin regulates cAMP levels and platelet activation.

METHODS: PAR1 and PAR4 on washed human platelets were inhibited with vorapaxar or BMS-986120, respectively, in the presence or absence of prostaglandin (PG)I

RESULTS: In the presence of …

Lyplal1 Rare Loss-Of-Function Variants In Humans And Deletion In Human Hepatoma Cells Protect Against Masld, Rawdat Hussain, Chinmay Raut, Ponnandy Prabhu, Akram Irshaid, Yash Hegde, Yue Chen, Asmita Pant, Antonino Oliveri, Xiaochao Wei, Lishi Yin, Tiffany L Russell, Brian Halligan, Clay F Semenkovich, Elizabeth K Speliotes

2020-Current year OA Pubs

Genetic variants near LYPLAL1 are associated with Metabolic dysfunction-Associated Steatotic Liver Disease (MASLD) in humans, but their impact on LYPLAL1 function is unknown. We identified LYPLAL1 loss-of-function variants from UK BioBank (UKBB) whole-exome sequencing data that had AlphaMissense or GPN-MSA scores in the top 20% of LYPLAL1 variants for being disruptive. We aggregated these variants and carried out burden analysis for effects on MRI Proton Density-Fat Fraction (MRI-PDFF) and ICD-based MASLD in UKBB. Rare loss-of-function LYPLAL1 variants were associated with reduced MRI-PDFF and ICD diagnosed MASLD across sexes. We used CRISPR to knockout and overexpress LYPLAL1 in human hepatoma cells …