Digital Commons Network^™

Psychotropic Medication Use In Older Adults In A Long-Term Care Facility: Implications For Screening Tool, Callie M. Johnson

Dissertations

Psychotropic medication use in older adults aged 65 years and older residing in the long-term care facility has a complex issue in the high use of psychotropic medications. Older adults residing  in long-term care (LTC) facilities are affected and prescribed at least one psychotropic or antidepressant medication.

Enhancing Well-Being: Implementing Weekly Social Interventions For Older Adults In Independent Living, Rosa Huang

Dissertations

Loneliness and social isolation significantly impact the physical and mental well-being of older adults. This quality improvement project implemented an eight-week social intervention designed to reduce loneliness and enhance well-being through weekly sessions incorporating mindfulness exercises, gratitude journaling, and structured socialization activities. The intervention was delivered by nursing students to a sample of residents in a Midwestern independent living community. While most standardized measures of loneliness and mood did not show statistically significant changes, the project resulted in a statistically significant increase in social network engagement as measured by the Lubben Social Network Scale-6 (LSNS-6). The findings suggest that group-based …

Identification Of Prognostic Factors For Disease Recurrence-Free Survival (Drfs) In Breast Cancer Patients Using The Cox Proportional Hazards Model, Dwi Cahyaning Putri, Veny Prabaningrum, Samsul Arifin

Jurnal Biostatistik, Kependudukan, dan Informatika Kesehatan

Breast cancer remains one of the most common malignancies among women worldwide, with recurrence remaining a major clinical challenge. Despite various treatment efforts, the mortality rate from breast cancer remains high, particularly among patients with worse clinical and molecular conditions. This study aims to identify factors influencing the survival of breast cancer patients using the Cox proportional hazards model. The study analyzes clinical and molecular data of breast cancer patients to identify key risk factors affecting Disease Recurrence-Free Survival (DRFS). Analysis was conducted using Kaplan-Meier, the Log Rank test, and the Cox proportional hazards model. The results showed that nodal …

Tau Pathology In Epilepsy: Emerging Mechanisms And Translational Opportunities, Arjune Sen, Xin You Tai, Aristea Galanopoulou, Maria Thom, Eleonora Aronica, Lucy Vivash, Martin Hardmeier, Action Amos, Stephan Rueegg, Matthias Koepp, Yaroslav Winter, Christoph Helmstaedter, Jeffrey L Noebels, Hilal A Lashuel, Terence J O'Brien

Faculty, Staff and Students Publications

The onset of epilepsy in adulthood occurs most commonly after 55 years of age. Given the ageing global population, this disorder represents an increasing burden on healthcare and society. The bidirectional link between epilepsy and dementia is a focus of intense research with underlying tau pathology highlighted as a potential mechanistic link. In this review, we examine the evidence for tau-related neurodegenerative processes in epilepsy beginning with how changes in biochemical and structural properties of the tau protein can lead to abnormal phosphorylation and pathological aggregation. We consider the role of tau in seizure occurrence and cognitive difficulties in experimental …

Fostering Active Learning In Reproductive Health Classes Among Undergraduates Of A Nigerian Public University: The Role Of Cognitive Restructuring Health Education, Ndubuisi Friday Ugwu, Adewumi Segun Igbinlade, Adijat Bolanle Adams, Uchenna Anselm Anibueze, Gabriel Aderibigbe Oyegbami, Chinyere Chrysantus Onwurah, Sabina Nwakaego Igwilo, Olufemi M. Olubamise, Folasade Adediran, Oladipo Adeyeye Olubodun Phd, Jacob Kehinde Opele, Loveth Nnenna Ugwu, Amos Olorunwa Agbojo

Higher Learning Research Communications

Objective: This study examined the efficacy of the cognitive restructuring health education (CRHE) intervention in improving participatory learning in sexual and reproductive health classes among students at a Nigerian public university.

Methods: The study employed a randomized pretest/posttest control group design involving 130 undergraduates from Federal University Oye-Ekiti, Nigeria. Participants were randomly assigned to either a 2-week intensive health education–based cognitive restructuring program (n = 65) or a waitlist control group (n = 65). Interaction behavior was assessed at pretreatment, at post-treatment, and at a 6-week follow-up using the 14-item Interaction Behavior Checklist (reliability = 0.85). …

Cytoskeletal Protein Expression In Autism Spectrum Disorder: A Psychoneuroimmunological Perspective On Sars-Cov-2, James Birch

Walden Dissertations and Doctoral Studies

The COVID-19 pandemic heightened concerns about health disparities among individuals with autism spectrum disorder (ASD). Limited understanding of the biological factors underlying health variability may hinder efforts to reduce disparities and improve care for neurodivergent populations. Guided by the psychoneuroimmunology framework, this quantitative study investigated whether cytoskeletal gene expression was associated with neuroimmune variability in ASD and SARS-CoV-2 populations. Three genes –Nck-associated protein 1 (NCKAP1), WAS/WASL-interacting protein family member 1 (WIPF1), and actin-related protein 2/3 complex subunit 1B (ARPC1B)—were evaluated using two publicly available Gene Expression Omnibus datasets GSE212645 (ASD vs. sibling-matched controls, N = 40) and GSE152641 (SARS-CoV-2-positive vs. …

Provider-Reported Readiness Of Chronic Healthcare Services In Saudi Arabia Under The Health Sector Transformation Program, Aseel Aldhwaihi, Saad Alghanim

Saudi Medical Journal

Objective: To assess provider-reported readiness of chronic healthcare services in Saudi Arabia within the context of the Health Sector Transformation Program (HSTP), using a validated, context-specific assessment instrument. Methods: A national cross-sectional survey was conducted between November 2024 and February 2025 among 254 healthcare providers across 5 health regions and both public and private healthcare sectors. A 34-item instrument, informed by the Chronic Care Model (CCM) and adapted to the Saudi context, assessed 7 system readiness dimensions. Descriptive statistics, independent-samples t-tests, one-way analysis of variance, and Pearson correlation analyses were performed. Results: Overall system readiness was moderately positive. Health system …

Dietary Fat Intake And Its Influence On The Association Between Liver Fat And Brain Choline Metabolism In Young Saudi Women, Halima S. Hawesa, Mansour E. Shanawani, Haya A. Alshegri, Mahasin G. Hassan, Amal I. Alorainy, Nouf A. Alroqaiba, Shanoo G. A. Sheikh

Saudi Medical Journal

Objective: Fat-rich nutrition may influence the neurochemical consequences of hepatic lipid accumulation. This study examined whether percent energy from fat modifies the association between liver fat and the brain (Cho/Cr) ratio in healthy young women. Methods: A total of 109 healthy Saudi women aged 18–25 years underwent brain magnetic resonance spectroscopy (¹H-MRS) to quantify Cho/Cr ratios. Liver fat was estimated using MRI-based proton density fat fraction (PDFF), and lipid intake was assessed using a validated food frequency questionnaire. Multivariable regression models tested the interaction between liver fat and fat-derived energy intake, followed by simple slopes analysis, regression …

Artificial Intelligence In Pharmaceutical Care: Transforming Drug Discovery, Development, And Patient-Care Delivery, Abdulrahman G. Alharbi, Abdulrahman A. Aljabri

Saudi Medical Journal

The integration of artificial intelligence (AI) into pharmaceutical care represents a paradigm shift in healthcare delivery, offering unprecedented opportunities to revolutionize medication management, accelerate drug development, and enhance patient outcomes. This comprehensive review synthesized evidence from global literature (2021–2025) examining AI applications across drug discovery and development, clinical trials optimization, medication therapy management, and pharmacy operations. The AI demonstrated prediction accuracies of 86–98% in drug discovery, 80% improvement in clinical trial recruitment efficiency, and 32.7% increase in medication adherence over standard care. The global AI drug discovery market, valued at \$1.5 billion (2023), is projected to reach \$11.8 billion by …

Emerging Strategies For Cardio-Renal Protection Beyond Raas Blockade: Emphasis On Non-Diabetic Ckd And Resistant Hypertension, Fahad S. Alrashidi

Saudi Medical Journal

Non-diabetic chronic kidney disease (ND-CKD) complicated by resistant hypertension remains a high-risk phenotype even when renin–angiotensin system blockade is optimized. This review synthesizes contemporary evidence for cardio-renal protection beyond traditional renin-angiotensin-aldosterone system inhibition (RAASi), with emphasis on mechanisms, clinical trial data, and pragmatic sequencing. Sodium–glucose cotransporter 2 inhibitors provide hemodynamic and tubular benefits that translate into renal and heart failure risk reduction in many patients with ND-CKD. Non-steroidal mineralocorticoid receptor antagonism (MRA) like finerenone targets inflammatory and fibrotic signaling and may add incremental benefit when potassium is proactively managed. The GLP-1 receptor agonists offer cardiometabolic advantages with emerging kidney signals, …

The Role Of The Nlrp3 Inflammasome In Preeclampsia And Implantation Failure: A Molecular Review, Ari Budi Suryawinata, Mariel Tania Darmayani, Listyani Suhargo

Chulalongkorn Medical Journal

The NOD-like receptor family pyrin domain containing 3 (NLRP3) inflammasome is a critical multiprotein complex of the innate immune system that functions as a molecular sensor for a wide array of danger signals. While its activation is essential for host defense and tissue homeostasis, its dysregulation is increasingly implicated in the pathophysiology of numerous inflammatory disorders. This review article synthesizes the current molecular understanding of the NLRP3 inflammasome, focusing on its dual role in health and disease. We first provide a concise overview of the canonical two-step mechanism of NLRP3 activation and the intricate molecular checkpoints including genetic factors, post-translational …

Effectiveness And Implementation Of The Shield Integrated Multi-Level Model To Reduce Adolescent Depression And Internet Addiction: A Cluster Randomized Waitlist-Controlled Trial In Wangchin District, Phrae Province, Seubtrakul Tantalanukul, Amornpan Samorn

Chulalongkorn Medical Journal

Background: Adolescent depression and internet addiction represent significant comorbid mental health challenges in rural Thailand, where access to evidence-based interventions remains limited. Traditional single-modality approaches often fail to address the complex interplay between individual, family, and systemic factors contributing to these conditions.

Objectives: To evaluate the effectiveness and implementation outcomes of the SHIELD (Screening & Surveillance, Health Literacy Enhancement, Internet Wellness Program, Empowering Families, Linkage to Care, Data-driven Monitoring) integrated multi-level intervention for reducing depression and internet addiction among at-risk adolescents in rural Thailand.

Methods: A cluster randomized waitlist-controlled trial was conducted across eight secondary schools in Wangchin District, Phrae …

Computed Tomography Findings Of Normal Appendix In Pediatric Population, Thanwarat Koonthong, Teerasak Phewplung*

Chulalongkorn Medical Journal

Background: Appendicitis remains the most common indication for emergency abdominal surgery in children. Computed tomography (CT) plays a vital role in the evaluation of pediatric patients with suspected appendicitis. Yet, there is limited of literature describing the normal appendiceal diameter in the pediatric Asian population.

Objectives: To characterize the normal pediatric appendix and to identify the variables that influence its diameter in pediatric patients aged one day to 18 years who underwent abdominal CT.

Materials and Methods: The study was approved by the IRB. We conducted a retrospective study of 358 children (≤18 years of age) who underwent abdominal CT …

Global Trends In School Disaster Preparedness Research: Bibliometric Analysis Impacts On Public Health And Safety, Muhammad Farid, Muhammad Agita Hutomo, Oktomi Wijaya, Dian Ika Puspitasari

Chulalongkorn Medical Journal

Background: Disasters disrupt daily human activities, arising from natural or artificial triggers, with varying impacts based on community vulnerability and resource capacity. Effective disaster management involves a cycle of mitigation, preparedness, response, and recovery. One of the mitigation measures is to establish school disaster preparedness that integrate education and capacity building.

Objective: The aim of this research is to conduct a bibliometric analysis based on Scopus publications regarding school disaster preparedness.

Methods: A bibliometric analysis was performed on publications indexed in Scopus from 1965 to 2024. Data were processed and visualized using VOSviewer to explore trends in annual outputs, contributing …

Mammography: What Utahns Need To Know, Brie Sparks, Susan R. Madsen

Marketing and Strategy Faculty Publications

Mammography is a critical preventative health tool that enables early detection of breast cancer and improves the likelihood of successful treatment. In Utah, screening behaviors are shaped by access to care, personal perceptions, healthcare experiences, and broader social and structural factors. Understanding both measurable trends and attitudes toward preventative care provides essential context for improving screening rates. Together, these factors influence how, when, and whether Utah women utilize mammography services, ultimately impacting early detection outcomes across the state.

Applying The Ottawa Charter To Evaluate Health Literacy Outcomes Of The Little Aussie Bugs Course For Australian Early Childhood Educators, Amelia Ruscoe, Elizabeth J. Cook, Eleanor K. O'Brien, Leesa N. Costello, Gillian Kirk, Ros Sambell, Theresa Rayfield, Amanda Devine, Ruth M. Wallace

Research outputs 2022 to 2026

Early childhood offers an important opportunity to lay the foundations for lifelong health literacy. The Little Aussie Bugs (LAB) dialogic book series and online professional development (PD) course were designed to support Early Childhood Education and Care (ECEC) educators to embed health literacy concepts, including hygiene, healthy eating, and oral health, into everyday learning routines. This mixed methods study evaluated the course pilot and examined its contribution through the lens of the Ottawa Charter for Health Promotion—a framework comprising five interrelated action areas: building healthy public policy; creating supportive environments; strengthening community action; developing personal skills; and reorienting health services. …

Barriers In Diagnosing Gender Dysphoria In Youth: A Scoping Review, Kayla Perfetto

Scoping Protocols

Objective: Specifically, through this review, I aim to explore the barriers influencing clinicians when diagnosing gender dysphoria in youth populations. The objective of this scoping review is to understand the extent and type of evidence in relation to this topic.

Introduction: The existing literature highlights significant uncertainty among mental health professionals in diagnosing and providing care for transgender and gender-diverse youth, posing substantial challenges for tailored support. This scoping review aims to condense the extant literature on the variables impacting clinicians’ diagnosis of gender dysphoria in children and adolescents, addressing critical gaps and providing a comprehensive resource for stakeholders.

Inclusion …

Reducing Communicable-Disease Risk After Earthquakes: Vaccination And Prevention Lessons For Venezuela's Doublet, Alfonso J Rodriguez-Morales, Ivan Arturo Rodríguez-Sabogal, Adriana Sucari, Wendy Moncada, Lili Vanessa Hernández-Serrano, Florencia Escarrá, Pasesa Pascuala Quispe-Torrez, Francisco Javier Membrillo, Tomás Orduna, Susana Lloveras, Tânia S S Chaves, Miguel M Cabada, Cecilia Perret, René Echavarría, Ana F Ribeiro, Melinda Tanabe, Fernando Bazzino, Maximiliano Ramirez, Baruch Diaz, Karen Mirna Loro Morejón, Karen Daly, Reinaldo Rosas, Maria Belen Lopez, Cristina Miranda, Marisa Liliana Fernandez, Yasemin Özsürekçi, Wasin Matsee, Yenddy Carrero, Cristian Biscayart, Sergio Cimerman, Maria L Avila-Aguero, Roberto Debbag, Jose Brea, Alejandro Risquez, Jaime David Acosta-España, Rolando Ulloa-Gutierrez, Carlos Espinal, Carlos N Torres-Martinez, Marta González-Sanz, Aula Abbara, Jill Weatherhead, Bernal Cordero, Virgilio Lezcano, Amanda Guerrero, Herberth Maldonado, Luis Cuellar, Ines Ceron, Yori Roque, Melisa Florentin, Rosa Infante, Ana Carvajal, Lily M Soto-Ávila, Marbelys Hernández, Hector Villaroel, Gianmary Miozzi, Rafael Navas, Moraima Hernández, Carlos Pérez-Vega, Manuela Mérida, David A Forero-Peña, Juan-Carlos Navarro, Claudia Beltrán-Arroyave, Mario Masana

Faculty, Staff and Students Publications

No abstract provided.

Aberrant Ciliogenesis Induced By Enhanced Bmp Signaling Causes Heterotopic Ossification, Hiroyuki Yamaguchi, Jianbo Wang, Fangfang Yan, Jiarui Bi, Radbod Darabi, William R. Lagor, Zhongming Zhao, Aris N. Economides, Yuji Mishina, Yoshihiro Komatsu

Faculty, Staff and Student Publications

Bone morphogenetic protein (BMP) signaling is a principal driver of heterotopic ossification (HO), yet how aberrant BMP activity structurally reprograms cellular signaling machinery to develop HO remains unclear. Here, we identify BMP signaling as a direct upstream regulator of ciliogenesis that coordinates a multi-stage, pro-osteochondrogenic signaling relay during HO. Using a conditional gain-of-function BMP mouse model (Acvr1Q207D/+), we demonstrate that enhanced BMP signaling promotes primary cilium biogenesis and axonemal elongation through canonical Smad1/5/9-dependent transcriptional activation of intraflagellar transport (IFT) Ift20, a core component of the IFT machinery. Rather than operating via a singular downstream cascade, these elongated …

Impact Of Wet Vs. Dry Hair And Varying Hair Changes On Surface Dose And Setup Consistency In Whole Brain Radiation Therapy, Dyanira Salinas

Masters Projects

Purpose: The purpose of this research was to quantify how varying hair conditions—dry hair versus wet hair, complete hair loss, and the use of hair extensions—influence surface dose during WBRT. The study evaluated mask fit differences between the varying hair parameters and the potential implications for immobilization accuracy.

Methods: Four CT scans were acquired with a water phantom and varying hair parameters. A whole brain radiation therapy (WBRT) plan was created on a dry wig human hair scan using 6MV photos. Thermoluminescent dosimeters (TLDs) were used to measure surface dose for each hair condition. Gap between the water phantom and …

Advancing Bioinformatics With Language Models: Components, Applications, And Perspectives, Jiajia Liu, Mengyuan Yang, Yankai Yu, Haixia Xu, Tiangang Wang, Kang Li, Xiaobo Zhou

Faculty, Staff and Student Publications

Large language models (LLMs) are deep learning-based artificial intelligence models that have achieved remarkable success in natural language processing. Typically composed of neural networks with billions of parameters, they are trained on massive unlabeled datasets using self-supervised or semi-supervised learning. Beyond language, LLMs hold immense potential for addressing complex bioinformatics challenges. This review provides a comprehensive overview of transformer-based model applications in genomics, transcriptomics, proteomics, drug discovery, and single-cell analysis. We discuss critical components, including tokenization strategies for diverse biological data, transformer architectures, attention mechanisms, and pretraining approaches. We also survey currently available foundation models and their downstream applications across …

Adapting And Delivering An Extension Diabetes Self-Management Support Program To Serve The Hispanic Community, Camden Bryan, Samantha Kanny, Christina Dietz, Danielle Mcfall, Michelle Parisi, Michelle Stancil, Johanna Bruen, Rhonda Matthews, Windsor W Sherrill

Journal of Extension

Expanding Extension education programs to serve the Hispanic community will be important as this population continues to grow. The rate of diabetes is higher among the Hispanic population than the non-Hispanic population; however, the barriers to implementing a health education program and recruiting participants are plentiful. This paper highlights the work conducted by the Clemson Cooperative Extension Service, in partnership with organizations across South Carolina, to adapt and deliver the Health Extension for Diabetes program to the Hispanic community. It offers insights into effective strategies for program adaptation, recruitment, and delivery that agents can use to overcome barriers and increase …

Building Academic-Community Partnerships To Reduce Rural Health Disparities, Latoya J. O'Neal, Marcia Brown, Biswadeep Dhar, Noemi Reyes, Brittany Blake, John Diaz, Karla Shelnutt

Journal of Extension

Rural health disparities are increasing in the United States. Academic–community partnerships between Extension and faith-based organizations present a unique opportunity to improve health outcomes in rural areas. The main objective of this study was to identify the perceived barriers, needs, and strategies for implementing effective and sustainable health promotion programs through Extension and faith community partnerships. We conducted semi-structured interviews with Extension professionals and faith community leaders (N = 15). Our results suggest that academic–community partnerships could leverage shared needs, resources, and strategies to serve as a model for reducing health disparities among low-income, minoritized adults residing in rural …

Rapid Recovery Of Peripheral Oxygen Saturation In Hypoxic Covid-19 Patients With Ivermectin/Doxycycline/Zinc Multidrug Therapy, Sabine Hazan, Adriana C. Vidal, Eleftherios Gkioulekas, Anoja W. Gunaratne, Sibaish Dolai, Robert L. Clancy, Peter A. Mccullough, Thomas J. Borody

School of Mathematical & Statistical Sciences Faculty Publications

Several combination therapies for the early outpatient treatment of COVID-19 were proposed by independent research groups at the onset of the pandemic during 2020 and 2021. In this observational study, we report on the outcomes of an off-label triple combination therapy, consisting of ivermectin, doxycycline, and zinc, with adjunct vitamin C and D3 supplementation, which was used on high-risk COVID-19 patients. These patients refused an initial recommendation to seek inpatient care, despite a high-risk presentation compounded with one or more comorbidities and/or severe hypoxia. Telemedicine was used to administer personalized treatment to patients at home, who did not have access …

Spatiotemporal Patterns Of Vaccine Uptake For Measles Outbreaks In Katsina State, Nigeria, Zeenat Kabir Asma'i

Walden Dissertations and Doctoral Studies

Measles remains a public health concern in Nigeria despite the availability of effective vaccines, yet limited research has comprehensively examined spatiotemporal patterns and contextual determinants of vaccination coverage and measles incidence in Katsina State. Guided by the socioecological model, this quantitative ecological study examined spatiotemporal patterns of measles incidence among children aged 9–59 months of age across 183 wards in 34 local government areas of Katsina State, Nigeria, from 2018 to 2022. Confirmed cases (n = 376) were analyzed using negative binomial regression and spatial methods, including Moran’s I, SaTScan, and geographically weighted regression (GWR). Urban wards had higher incidence …

Leadership-Mediated Retention Strategies To Sustain Workforce Capacity And Performance In Public Health, Meredith Winslow Wilkins

Walden Dissertations and Doctoral Studies

Workforce retention challenges continue to affect public health leaders by contributing to staffing shortages, reduced organizational capacity, and disruptions in service delivery. Public health leaders are concerned with employee turnover because it affects workforce stability, organizational performance, and the ability to meet community health needs. Grounded in Herzberg’s motivation-hygiene theory, the purpose of this qualitative pragmatic inquiry was to explore effective workforce retention strategies used by public health leaders to retain skilled staff and strengthen organizational capacity and revenue. The participants were eight public health leaders in the Northeast region of the United States with responsibility for workforce management and …

Extracellular Vesicle-Mediated Transfer Of Gsdme-Nt Pores As A Mechanism Of Inflammation Propagation, Bifeng Xiao

Master's Theses

Inflammasomes are multiprotein complexes that initiate inflammatory signaling through activation of caspase-1, cytokine maturation, and cleavage of Gasdermin D (GSDMD). Cleaved GSDMD forms membrane pores that contribute to cytokine release and pyroptotic cell death. Recent evidence suggests that extracellular vesicles (EVs) may facilitate the intercellular transfer of inflammatory mediators. This study investigated whether GSDMD N-terminal fragment (GSDMD-NT) associates with EV-enriched fractions and contributes to inflammation propagation. Doxycycline-inducible HeLa cells expressing FLAG-tagged GSDMD-NT were used to generate EV-enriched fractions. Western blot analysis detected GSDMD-NT-associated material within EV fractions, while EV marker analysis supported successful enrichment of EV-associated material. Exposure of recipient …

Peer-Peer Mentoring In Undergraduate Medical Education (Ume): Scoping Review Of Us-Based Medical Schools, Sakshi Sehgal, Jordon Brinkley, Andrea Kadima, Sydney Wright, Nicole Winston Ms, Pharmd, Edd

Journal of the Georgia Public Health Association

Background: Mentorship plays a formative role in undergraduate medical education (UME) From shaping professional outcomes to developing longitudinal personal relationships, various forms of mentorship can influence student progress meaningfully, particularly for students from underrepresented or marginalized backgrounds. Though faculty-student mentorship has been readily investigated, limited knowledge exists regarding peer-peer mentorship structures, particularly within UME in the American medical education model. This scoping review sought to investigate existing peer-peer mentorship models, as well as report on the need for further mentorship within this realm in UME.

Methods: This scoping review employed Arksey and O’Malley’s framework. We conducted a systematic and comprehensive …

The Role Of Social Determinants Of Health In Hydroxyurea Adherence Among Persons With Sickle Cell Disease: A Systematic Review, Doreen O. Ugwu, Lori L. Vick, Terika Williams, Aurela Nikaj, Seyi Omeh, Benjamin Becerra Dr., Tilicia Mayo-Gamble

Journal of the Georgia Public Health Association

Objective: Georgia has one of the highest prevalences of sickle cell disease (SCD). For Georgians living with SCD, inadequate medication adherence is associated with important clinical outcomes. One important area that is understudied in SCD is the impact of social determinants of health (SDoH) on medication adherence. A foundational understanding of SDoH is needed to introduce, inform and carry out programs and interventions designed to facilitate hydroxyurea adherence through the state of Georgia.

Method: We conducted a systematic literature review to synthesize the literature on SDoH addressed in studies to improve hydroxyurea adherence in persons with SCD. SDoH were based …

Bi-Allelic Loss-Of-Function Variants In Tmem63b Cause Syndromic Surfactant Dysfunction Disorder, Sock Hoai Chan, Audra N Iness, Jill A Rosenfeld, Mir Reza Bekheirnia, Lindsay C Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R Patel, Lorraine Potocki, Christina K Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C Siew, Donald Yuhui Sim, David R Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Child-Eu Registry, Saumya S Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol

Faculty, Staff and Students Publications

Transmembrane protein 63B gene (TMEM63B) encodes a mechanosensitive ion channel expressed in alveolar type II epithelial cells, where it mediates stretch-induced surfactant secretion. While heterozygous gain-of-function variants in TMEM63B have been associated with developmental and epileptic encephalopathy, no human disorder has previously been linked to bi-allelic loss-of-function variants. Here, we report five individuals from four unrelated families with childhood interstitial lung disease and bi-allelic predicted loss-of-function variants in TMEM63B. Affected individuals presented with early-onset respiratory distress, chronic hypoxemia, and diffuse parenchymal lung abnormalities on chest imaging. One individual died in infancy, two underwent bilateral lung transplantation, and two require oxygen …