Medical Sciences Commons^™

In Silico Evaluation Of The Role Of Pea3 Subfamily Ets Transcription Factors In Chemoresistance In Ovarian Cancer, Fevzi̇ Coşkun Sökmen, Lai̇ka Kardana, Hi̇kmet Yilmaz, Ahmet Çağlar Özketen, Aynur Karadağ Gürel, Özge Atay, Hasan Hüseyi̇n Kazan

Turkish Journal of Medical Sciences

Background/aim: The E26 transformation-specific family of transcription factors regulates the cell cycle and apoptosis that are crucial for carcinogenesis. More specifically, the PEA3 subfamily—comprising ETS variant (ETV) transcription factors ETV1, ETV4, and ETV5—has been implicated in multiple oncogenic signaling pathways and chemotherapy resistance. While cisplatin is still a widely used chemotherapeutic treatment for ovarian cancer, its therapeutic efficacy is sometimes limited by the induction of resistance mechanisms. The present study investigates the potential role of PEA3 subfamily genes in cisplatin resistance in ovarian cancer through comprehensive in silico analyses.

Materials and methods: Cisplatin response data for ovarian cancer were obtained …

Omega-3–Rich Fish Oil Lipid Emulsions Significantly Prevent Sepsis-Driven Mesenteric Hypoperfusion And Multi-Organ Injury In Murine Models, Gökşen Öz, Esi̇n Özçelebi̇, Ayşe Yeşi̇m Göçmen, Cenk Sükmensüer, Selma Yildirim, Arzu Topeli̇, Alper Bektaş İski̇t

Turkish Journal of Medical Sciences

Background/aim: Parenteral feeding is used in critically ill patients when enteral nutrition is inadequate or intolerable, and the gastrointestinal tract is not functioning properly. Lipid emulsions play a major role in parenteral nutrition because they supply necessary fatty acids and a high-calorie density. We investigated the effects of parenteral lipid emulsions on mesenteric perfusion, inflammation-induced oxidation, and organ damage in lipopolysaccharide-induced mice endotoxemia model.

Materials and methods: In septic mice, organ damage induced by lipopolysaccharide was assessed by histopathology and biochemical examination. Additionally, an ultrasonic blood flowmeter was used to measure the impact of lipid emulsions on mesenteric blood flow. …

Letter To The Editor: Telemedicine Versus Conventional Care For Nonspecific Neck Pain: A Randomized Controlled Study, Gülsemi̇n Ertürk Çeli̇k

Turkish Journal of Medical Sciences

No abstract provided.

Pancreatitis Risk Genes Play A Major Role In Pediatric Pancreatitis: Insights From The International Study Group Of Pediatric Pancreatitis: In Search For A Cure, Maisam Abu-El-Haija, Wenying Zhang, Fuchenchu Wang, Gretchen Cress, Brian Dawson, Xiaoping Su, Tyler Thompson, Nicole Kotha, Ankur Chugh, Reuven Zev Cohen, Elissa M Downs, Douglas S Fishman, A Jay Freeman, Cheryl E Gariepy, Matthew J Giefer, Tanja Y Gonska, Phil Greer, Amit S Grover, Andrew Y J Liman, Douglas Lindblad, Quin Y Liu, Asim Maqbool, Jacob A Mark, Brian A Mcferron, Megha S Mehta, Veronique D Morinville, Kenneth Ng, Robert A Noel, Chee Y Ooi, Emily R Perito, Michael Wilschanski, Yuhua Zheng, Ying Yuan, David C Whitcomb, Aliye Uc, Mark Lowe, Consortium For The Study Of Chronic Pancreatitis, Diabetes, And Pancreatic Cancer (Cpdpc)

Faculty, Staff and Students Publications

Background & aims: Clinical data show that genetic variants are significant risk factors for acute recurrent pancreatitis and chronic pancreatitis. To expand the understanding of the role of genetics in acute recurrent pancreatitis and chronic pancreatitis, high-throughput next-generation sequencing of 14 genes was completed in a multicenter pediatric cohort.

Methods: A cross-sectional study involving 944 pediatric patients with acute recurrent pancreatitis or chronic pancreatitis was conducted. CASR, CEL, CFTR, CLDN2, CPA1, CTRC, GGT1, PRSS1, PRSS2, PRSS3, SBDS, SLC26A9, SPINK1, and UBR1 were sequenced. The frequencies of identified variants were compared with frequencies in the genome aggregation database. Group differences were …

Multiple Organ Dysfunction Syndrome In Pediatric Colchicine Poisoning: A National Cohort Study From Türkiye, Faruk Eki̇nci̇, Di̇nçer Yildizdaş, Ozden Özgür Horoz, Hayri̇ Levent Yilmaz, Sevcan Bi̇len, İlker Ünal, İkbal Türker, Esra Şevketoğlu, Ni̇hal Akçay, Agop Çitak, Güntülü Şik, Tanil Kendi̇rli̇, Merve Havan, Murat Kangin, Mehmet Nur Talay, Nazi̇k Yener, Hati̇ce Albayrak, Edi̇n Botan, Utku Özer, Arzu Oto, Gürkan Bozan, Muhterem Duyu, Başak Nur Akyildiz, Nai̇me Gökay, Eli̇f Çeli̇k, Çapan Konca, Mutlu Uysal Yazici, Oğuz Dursun, Feyza İnceköy Gi̇rgi̇n, Hati̇ce Feray Ari, İlknur Arslan, Murat Özkale, Özlem Sandal, Merve Misirlioğlu, Hali̇l Keski̇n, Sadik Kaya, Arda Kilinç, Ferhat Sari, Fati̇h Akin, Ayşe Aşik, Ibrahi̇m Bi̇ngöl, Eda Turanli, Merve Boyraz, Ener Çağri Di̇nleyi̇ci̇, Mehmet Aki̇f Dündar, Selver Ceren Özcan, Aygül Kaya Akilli, Emi̇ne Akkuzu, Nazan Ülgen Tekerek, Ni̇lüfer Öztürk, Emrah Gün, Yasemi̇n Özkale, Nuretti̇n Onur Kutlu, Zeynelabi̇di̇n Öztürk

Turkish Journal of Medical Sciences

Background/aim: Colchicine poisoning has been associated with systemic toxicity, multiple organ dysfunction syndrome (MODS), and mortality. In the present study, the demographic, clinical, and laboratory characteristics of pediatric colchicine poisoning cases and the incidence of organ failure are investigated to identify potential risk factors associated with MODS.

Materials and methods: Included in this retrospective multicenter cohort study were pediatric patients admitted to 28 tertiary-care pediatric intensive care units with a diagnosis of colchicine poisoning. Demographic data, clinical and laboratory findings, and clinical outcomes were extracted from medical records. MODS was defined as dysfunction involving at least two organ systems. Multivariable …

Comprehensive Geriatric Assessment Identifies Multidimensional Vulnerabilities In Older Adults With Heart Failure, Ci̇han Kiliç, Rengi̇n Demi̇r, Özlem Yilmaz Aykent, Zerri̇n Yi̇ği̇t, Pinar Küçükdağli, Banu Özulu Türkmen, Güli̇stan Bahat, Mehmet Aki̇f Karan

Turkish Journal of Medical Sciences

Background/aim: Heart failure (HF) in older adults is frequently accompanied by geriatric syndromes that remain unrecognized in conventional cardiac evaluations. The vulnerabilities of older adults with and without HF in terms of muscle strength, physical performance, functional capacity, frailty, nutritional status, cognition, mood, anxiety, polypharmacy, and comorbidity were investigated using comprehensive geriatric assessment (CGA).

Materials and methods: A cross-sectional study was conducted in two academic outpatient clinics, enrolling 420 adults aged ≥60 years, including 92 (21.9%) with HF. Data included sociodemographic characteristics, anthropometric measurements, and CGA parameters: handgrip strength, the Five-Times Sit-to-Stand Test (FTSST), the Short Physical Performance Battery (SPPB), …

Clinical, Hormonal, And Treatment Outcomes In 247 Patients With Acromegaly: A Single Tertiary Center Experience, Ümran Gül, Beki̇r Uçan, Hayri̇ Bostan, Hakan Düğer, Hayri̇ Kertmen, Caner Ünlüer, Hali̇l Durantaş, Oğulcan Boz, Ceren Karaçalik Ünver, Burak Menekşe, Sema Hepşen, İlknur Öztürk Ünsal, Mustafa Özbek, Erman Çakal, Muhammed Kizilgül

Turkish Journal of Medical Sciences

Background/aim: This study aimed to evaluate the demographic, clinical, and hormonal characteristics; comorbidities; surgical pathology; treatment modalities; and long-term clinical outcomes of patients diagnosed with and managed for acromegaly at our tertiary referral center over a 15-year period.

Materials and methods: Between 2010 and 2024, 247 patients with acromegaly were evaluated. Diagnosis and biochemical remission were determined according to the 2024 Acromegaly Consensus Criteria.

Results: The median follow-up duration was 8 years (IQR: 3–14). At the time of diagnosis, the most frequent pituitary hormone deficiency was secondary adrenal insufficiency, present in 17.8% of patients. The most common comorbidities were hypertension …

Timing Of Kirschner Wire Removal In Pediatric Supracondylar Humerus Fractures: Is Early Removal A Safe And Effective Option?, Mustafa Kemal Yeni̇dünya, Si̇nan Yüksel, İbrahi̇m Faruk Adigüzel, Serhat Di̇nç, Önder Ersan

Turkish Journal of Medical Sciences

Background/aim: The optimal timing of Kirschner wire removal following the surgical treatment of pediatric supracondylar humerus fractures remains controversial. This study aimed to compare the clinical and radiographic outcomes of early versus late K-wire removal and to contribute to the standardization of the timing of pin removal in pediatric patients.

Materials and methods: This retrospective study included 90 pediatric patients (aged 4–14 years) treated with closed reduction and percutaneous pinning for Gartland type III and IV supracondylar humerus fractures. Patients were grouped according to the timing of pin removal as early (postoperative days 21–28, n = 40) or late (after …

Bridging The Methodological Gap In Multitrauma Literature: A Competency-Based Educational Framework And Clinical Appraisal Filter, Şaki̇r Hakan Aksu, Burcu Doğan, Merve Yazla

Turkish Journal of Medical Sciences

Background/aim: The statistical complexity of contemporary multitrauma literature has increased considerably in recent years, which may pose challenges for clinicians seeking to interpret high-impact research and apply evidence-based practices. Characterizing this methodological landscape and exploring education-oriented approaches may help to improve the interpretability of the literature and support informed clinical decision-making.

Materials and methods: A cross-sectional analysis was conducted on the 100 most-cited multitrauma studies published in Science Citation Index Expanded journals indexed in the Web of Science database between January 2018 and November 2025. The statistical methods used in each article were categorized into the three competency levels of …

Postoperative Normocalcemic Hyperparathyroidism: A Comprehensive Analysis Of 510 Cases, Alparslan Ertenli̇ce, İbrahi̇m Kilinç, Mustafa Oruç

Turkish Journal of Medical Sciences

Background/aim: Postoperative normocalcemic hyperparathyroidism (NC-HPT) is defined as elevated parathyroid hormone (PTH) levels despite normal calcium levels after parathyroidectomy for primary hyperparathyroidism (PHPT). This study investigates the demographic, biochemical, and histopathological factors associated with NC-HPT in a large patient cohort and presents the follow-up outcomes.

Materials and methods: The initial study sample included 571 patients who underwent surgery for PHPT between January 2018 and January 2024, 510 of whom were analyzed retrospectively after the application of the exclusion criteria. Preoperative and postoperative biochemical parameters, bone mineral density, pathological findings, and follow-up data were evaluated. NC-HPT was defined as postoperative PTH …

Alterations In Gut Microbiota Composition In Adult Patients With Familial Mediterranean Fever: A Pilot Case–Control Study, Nazi̇fe Şule Yaşar Bi̇lge, Vicente Pérez Brocal, Ti̇muçi̇n Kaşi̇foğlu, Uğur Bi̇lge, Ni̇lgün Kaşi̇foğlu, Andres Moya, Ener Çağri Di̇nleyi̇ci̇

Turkish Journal of Medical Sciences

Background/aim: Although familial Mediterranean fever (FMF) is a monogenic disease, recent evidence suggests that the gut microbiota may play a role in its pathogenesis or phenotypic expression. We conducted a pilot exploratory study to evaluate the intestinal microbiota composition in patients with FMF and compare it to that of healthy controls.

Materials and methods: In this prospective cohort study, 10 adult patients with FMF receiving colchicine and 10 age- and sex-matched healthy controls were enrolled. Fecal samples were collected and stored at –80 °C until DNA extraction. The V3–V4 region of the 16S rRNA gene was amplified and sequencing was …

Vnotes High Uterosacral Ligament Suspension Versus Laparoscopic Lateral Suspension In The Management Of Vaginal Vault Prolapse: Initial Experience In A Single Tertiary Center, Ramazan Adan, Fati̇h Şahi̇n, Ulya Üskent, Mehmet Gökhan Çulha, Arzu Bi̇lge Teki̇n

Turkish Journal of Medical Sciences

Background/aim: The optimal technique for vaginal vault prolapse correction has yet to be identified. This study aimed to evaluate the anatomic and functional outcomes of women who underwent vaginal natural orifice transluminal endoscopic high uterosacral ligament suspension (vNOTES HUSLS) or laparoscopic lateral suspension (LLS).

Materials and methods: This retrospective study included symptomatic women with stage ≥2 vault prolapse who underwent vNOTES HUSLS or LLS between January 2019 and June 2022 at a tertiary center. The surgical efficacy, postoperative outcomes, complication rates, and recurrence frequencies of these procedures were compared. The primary outcomes of the study included anatomical success, patient-reported (subjective) …

A Caveat Regarding The Unfolding Argument: Implications Of Plasticity, Viknas N. O'Reilly-Shah, Alessandro Maria Selvitella, Aaron Schurger

Psychology Faculty Articles and Research

The unfolding argument in the neuroscience of consciousness posits that causal structure cannot account for consciousness because any recurrent neural network (RNN) can be “unfolded” into a functionally equivalent feedforward neural network (FNN) with identical input–output behavior. Subsequent debate has focused on dynamical properties and philosophy of science critiques. We examine a boundary condition on the unfolding argument for RNN systems with rapid plasticity in their connection weights. We demonstrate through rigorous mathematical proofs that rapid plasticity negates the functional equivalence between the RNN and the FNN. Our proofs address history-dependent plasticity, dynamical systems analysis, information-theoretic considerations, perturbational stability, complexity …

Autophagic Flux Blockade Under Hypocapnia Reveals Co2-Sensitive Regulation Of Autophagy-Lysosome Homeostasis, Naghmana Ashraf, Zhen Sun, Jeanine L Van Nostrand

Faculty, Staff and Students Publications

Hypocapnia, a reduction in partial pressure of carbon dioxide (CO2), commonly occurs in clinical contexts such as mechanical ventilation, panic disorder, and brain injury, yet its impact on cellular homeostasis remains poorly understood. Given the central role of autophagy in stress adaptation, we investigated how low CO2 influences autophagic flux and lysosomal function. We found that hypocapnia induces autophagosome accumulation while impairing cargo degradation, indicating a blockade in autophagic flux. This response was accompanied by increased lysosome biogenesis but, paradoxically, reduced autophagosome-lysosome fusion and lysosomal proteolytic activity. Mechanistically, hypocapnia promoted TFE3 dephosphorylation and nuclear translocation, driving transcriptional activation of lysosomal …

Guideline On Stress Echocardiography - 2026, Ana Cristina Camarozano, Salvador Vicente Spina, José Roberto Matos Souza, Marcelo Dantas Tavares De Melo, Daniela Do Carmo Rassi Frota, Silvio Henrique Barberato, Fabio Villaça Guimarães Filho, Harry Acquatella, Vera Márcia Lopes Gimenes, Jorge Alfredo Lowenstein, Ricardo H Pignatelli, José Maria Del Castillo, Joselina Luiza Menezes Oliveira, José Sebastião De Abreu, José Luis De Castro E Silva Pretto, Issam Shehadeh, Alex Dos Santos Felix, Mercedes Maldonado Andrade, Antônio Carlos Sobral Sousa, Maria Estefânia Bosco Otto, Andrea De Andrade Vilela, Pedro Gutierrez Fajardo, Liz Andréa Villela Baroncini, Cristiano Vieira Machado, Fábio Cañellas Moreira, José María Hernández Hernández, Marco Stephan Lofrano Alves, Samira Saady Morhy, Márcio Silva Miguel Lima, Miguel Osman Dias Aguiar, Wilson Mathias Junior, Letícia Dos Santos De Oliveira Rocha, João César Nunes Sbano, Barbara Athayde Linhares Martins Vrandecic, Fabio Roston, Arnaldo Rabischoffsky, Juliana Paixão Etto Rolim, Raphael Aparecido Barreto Da Silva, Guilherme De Rossi, Kamila Fernanda Staszko, Jolie Britt, Marcelo Luiz Campos Vieira

Faculty, Staff and Students Publications

No abstract provided.

Ultrasound-Enabled Refreshable Electrochemical Sensors For Cardiac Biomarker Monitoring, Mayank Garg, Heng Guo, Myeong Namkoong, Elizabeth Zhanov, Connor Malone, Md Saifur Rahman, Ayse Akcan-Arikan, Limei Tian

Faculty, Staff and Students Publications

Cardiac troponin I (cTnI) is the gold-standard biomarker for acute myocardial infarction, yet current laboratory-based high-sensitivity assays require centralized infrastructure, trained personnel, and serial testing, limiting their suitability for real-time or continuous monitoring in resource-limited settings. Point-of-care electrochemical sensors have shown promise for rapid cTnI detection, but their reliance on antibodies as biorecognition elements and redox mediator solutions, and single-use operation restricts practical translation. Here, we report an ultrasound-enabled refreshable electrochemical biosensor for sensitive, stable, and repeatable cTnI monitoring. The device employs a cTnI-specific peptide as the biorecognition element, providing enhanced stability during storage, transport, and operation. Label-free electrochemical impedance …

Macropinocytosis Inhibition Attenuates Profibrotic Responses In Lung Fibroblasts And Pulmonary Fibrosis Models, Ivan O Rosas, Aaron K Mcdowell-Sanchez, Santiago Sanchez, Juan D Cala-Garcia, Alan R Waich Cohen, Elisa Ruiz-Echartea, Scott A Ochsner, Daniel C Kraushaar, Lindsay J Celada, Dandan Sun, Francesca Polverino, Cristian Coarfa, Neil J Mckenna, Konstantin Tsoyi

Faculty, Staff and Students Publications

Idiopathic pulmonary fibrosis (IPF) is a devastating chronic lung disorder with limited treatment options. Macropinocytosis is one of the key cellular processes involved in nutrient consumption from the extracellular environment under stress conditions. Here, we studied the role of macropinocytosis in experimental pulmonary fibrosis models. We found that macropinocytosis is increased in human lung fibroblasts (HLFs) derived from patients with IPF. The inhibition of macropinocytosis with 5-(n-ethyl-n-isopropyl)-amiloride (EIPA) inhibited profibrotic responses in IPF-derived and TGF-β1-stimulated HLFs and reduced pulmonary fibrosis in bleomycin-injured (Bleo-injured) mice. EIPA exerted its antifibrotic effects by regulating amino acid uptake, mammalian target of rapamycin complex 1 …

Differential Roles Of Moesin And Vasp In Β-Catenin-Associated Networks During Zebrafish Heart Regeneration, Allen Rutman

Undergraduate Theses, Capstones, and Recitals

With cardiovascular disease remaining as the leading cause of mortality worldwide, it is largely due to the limited regenerative capacity of the human heart. However, zebrafish (Danio rerio) can fully regenerate cardiac tissue following injury, providing a valuable model for studying the mechanisms of heart repair. To investigate these mechanisms, we used proteomics methods in the past. Proximity labeling is a technique that identifies proteins based on their physical proximity to a protein of interest. It can be applied in organisms and in living cells (Roux et al., 2012; Cho et al., 2020). We used proximity labeling to characterize protein …

Deciphering Small Sequence Differences In T Cell Receptor-Antigen Pairing, Yi Han, Yuqiu Yang, James Zhu, Farjana J Fattah, Mitchell S Von Itzstein, Minying Zhang, Casey Bermack, Peixin Jiang, Shailbala Singh, Yanhua Tian, Yifei Hu, Yafang Deng, Xiongbin Kang, Donghan M Yang, Jialiang Liu, Yaming Xue, Chaoying Liang, Indu Raman, Chengsong Zhu, Olivia Xiao, Jonathan E Dowell, Jade Homsi, Sawsan Rashdan, Ke Pan, Shengjie Yang, Mary E Gwin, David Hsiehchen, Yvonne Gloria-Mccutchen, Fangjiang Wu, John V Heymach, Don Gibbons, Junzhou Huang, Chao Cheng, Jianjun Zhang, Cassian Yee, Alexandre Reuben, David E Gerber, Tao Wang

Faculty, Staff and Students Publications

T cells have important functions in development and disease processes through T cell receptor (TCR)-dependent activities. Many tools were developed to predict the binding between TCRs and antigens. However, one of the uncertainties is whether such tools can decipher how small changes in the TCRs or antigenic peptides contribute to binding. We develop a deep learning model, pMTnet-omni, which not only predicts the binding vs. non-binding of TCRs towards pMHCs, but also distinguishes the stronger vs. weaker binding of TCRs similar in sequence. We leverage this capability to interpret the biological rules that govern TCR-antigen pairing. This also enables pMTnet-omni …

Artificial Intelligence In Biomedical Scientific Publishing, Tomasz J Guzik, Victor Aboyans, Stefan Agewall, Steven Bailey, Adrian Baranchuk, Magnus Bäck, Michael Böhm, Robert O Bonow, George W Booz, Giuseppe Boriani, Biykem Bozkurt, Nico Bruining, Davide Capodanno, Çetin Erol, Péter Ferdinandy, Alessia Gimelli, Gerd Heusch, Thomas Kahan, Chim Choy Lang, Gerald Maurer, Robert J Mentz, Marco Metra, Philip Moons, Daniel Piskorz, Massimo Piepoli, Piotr Ponikowski, Alexandra Popma, Bianca Rocca, Juan Sanchis Fores, Philipp Sommer, Rhian M Touyz, Zoltan Ungvari, Pascal Vranckx, Joseph A Hill, Thomas F Lüscher, Filippo Crea

Faculty, Staff and Students Publications

Artificial intelligence is now embedded across the scientific research and publishing ecosystem, influencing discovery, analysis, knowledge translation, authorship, peer review, and editorial workflows. In cardiovascular and biomedical sciences, these developments offer substantial opportunities to accelerate knowledge generation, integrate complex datasets, and improve efficiency and consistency. At the same time, they introduce new risks related to bias, transparency, data integrity, and authorship responsibility, potentially endangering trust in the scientific record. This commentary examines the evolving role of AI in biomedical publishing, with particular attention to generative models and machine learning tools. We review both benefits and limitations, highlight risks such as …

Single-Nucleus Profiling Reveals A Core Disease Signature And Cell Type-Specific Vulnerabilities In Early Rett Syndrome, Yan Li, Ashley G Anderson, Guantong Qi, Sih-Rong Wu, Jean-Pierre Revelli, Hu Chen, Zhandong Liu, Huda Y Zoghbi

Faculty, Staff and Students Publications

Rett syndrome (RTT) is an X-linked neurological disorder caused by MECP2 mutations, creating distinct cellular environments in females (mosaic) versus males (nonmosaic). Despite female patients representing most cases, how mosaicism contributes molecularly to RTT pathogenesis, particularly in presymptomatic stages, remains poorly understood. To address this question, we profiled hippocampal transcriptomes of young female and male RTT mice using bulk and single-nucleus RNA sequencing. We identified a core disease signature of consistently dysregulated genes only in MeCP2− cells across RTT models. Moreover, we uncovered non–cell autonomous effects exclusively in female MeCP2+ excitatory neurons, suggesting that these circuits are more vulnerable early …

Nurses’ Knowledge Regarding Ventilator-Associated Pneumonia Prevention Bundle In Adult Cardiac Care Units, Marwa Abdo

Nursing

Ventilator-associated pneumonia (VAP) is among the most common ICU infections for ventilated patients, associated with increased mortality (20-50%), morbidity, and health care costs. Nurses' knowledge of VAP prevention bundles is vital to reducing its incidence in critical care areas. Aim: To assess Nurses’ knowledge regarding the ventilator-associated pneumonia prevention bundle in Adult Cardiac Care Units. Study design: A cross-sectional study design was used. Setting: This study was conducted in both the adult cardiac intensive care unit and the cardiac care unit at Aswan Heart Centre–Magdy Yacoub Foundation, Egypt. Subject: A convenience sample of 67 nurses was selected. Data collection tool: …

Glycosphingolipids Regulate Phosphatidylserine Transport Machinery That Operates At Er-Pm Contact Sites, Ritchel Gannaban, Sher Ali, Wei Chen, Melanie Nguyen, Li Lai, Travis I Moore, Yubin Zhou, John F Hancock, Junchen Liu

The Brown Foundation: Institute of Molecular Medicine

Plasma membrane (PM) localization of KRAS requires specific glycosphingolipids in the outer leaflet and phosphatidylserine (PS) in the inner leaflet. PM PS content is controlled by lipid transport proteins ORP5 and ORP8, which operate at ER-PM membrane contact sites (MCSs). Using high-resolution imaging, we now show that GSLs, including GM3 and SM4, are required to maintain ORP5 and ORP8 localization to MCSs. Genetic deletion or pharmacologic inhibition of enzymes required for the biosynthesis of GM3 or SM4 displaces PI4-kinase Type IIIα (PI4KIIIα) and its adaptor EFR3A from the PM, thereby reducing PM phosphatidylinositol 4-phosphate (PI4P) content. PM interactions of ORP5 …

Mapping The Neuroexposome: Integrative Analysis Of Dementia Risk Factors Through Multi-Omics And Environmental Profiling In The Egyptian Population., Mai Ahmed Saadzaghloul Othman

Theses and Dissertations

Background: Dementia represents one of the most pressing public health challenges of the twenty-first century, with the global burden projected to reach 153 million cases by 2050. Egypt, as the most populous Arab nation, faces a corresponding rise in age-related diseases, yet comprehensive data from low- and middle-income countries remain severely limited. The neuroexposome framework, integrating genetic susceptibility, environmental exposures, and metabolic alterations, offers a powerful strategy to characterize the complex interplay between internal and external risk factors for Alzheimer's disease (AD) and Alzheimer's disease Related Dementias (ADRD).

Objectives: This thesis aimed to: (1) examine the distribution of APOE alleles …

Determinants Of Corporal Punishment And Severe Physical Punishment In Egypt: A Mixed-Methods Analysis For Child Protection Policy, Marwa Moustafa Nassef

Theses and Dissertations

Corporal punishment (CP) and severe physical punishment (SPP) remain a major public health, child rights, and child protection policy concern. In Egypt, despite legislative reforms, survey-weighted analysis of the 2021 Egypt Family Health Survey (EFHS) 2021 (CAPMAS, 2022) reveals prevalence rates of 60.5% for CP and 27.4% for SPP among children aged 1–14 (author’s calculations using EFHS-2021, n=7623), yet evidence distinguishing the determinants of routine corporal punishment from escalation to severe physical punishment remains limited in low- and middle-income contexts. Guided by Bronfenbrenner’s ecological framework, this mixed-methods study identifies key drivers of CP and its escalation to SPP among Egyptian …

Targeted Next-Generation Sequencing Implementation In Eswatini Identifies Rifampicin And Bedaquiline Resistance Undetected By Routine Diagnostic Testing, Debrah Vambe, Alexander Kay, Mangaliso Ziyane, Mdigo Thunzini, Sein Sein Thi, Leonardo De Araujo, Viola Dreyer, Tanja Niemann, Busizwe Sibandze, Sijabu Masina, Andrea Maurizio Cabibbe, Jennifer Furin, Tafadzwa Mazuruse, Lindokuhle Dlamini, Thulani Jele, Bheki Mamba, Gugu Maphalala, Makhosazana Dlamini, Mbongeni Dube, Nomthandazo Lukhele, Daniela Maria Cirillo, Anna Mandalakas, Christoph Lange, Sphiwe Ngwenya, Christian Utpatel, Sindisiwe Dlamini, Stefan Niemann

Faculty, Staff and Students Publications

In Eswatini, multidrug-resistant (MDR) Mycobacterium tuberculosis (Mtb) strains harbouring the rifampicin-resistance (RR) rpoB I491F mutation are missed by routine diagnostics, including GeneXpert MTB/RIF Ultra (Xpert Ultra), line probe assays (LPA), and mycobacterium growth indicator tube (MGIT) phenotypic drug susceptibility testing (pDST). To address this diagnostic gap, Eswatini introduced targeted next-generation sequencing (tNGS) in 2019. We analysed 234 patient samples enrolled from June 2021 to December 2024 with isoniazid and/or rifampicin resistance detected by routine diagnostics, or suspected treatment failure, and obtained detailed clinical and outcome data from 59 patients. tNGS detected RR in 159 strains, of which 101 (64%) carried …

The Gut Microbiome, The Gut-Brain Axis, And College Student Well-Being, Idi Mckay

University Honors Theses

This literature review examines how diet, stress, environmental exposure, and food accessibility may influence college students' mental health and academic performance through the gut microbiome and the Gut-Brain Axis (GBA). Current microbiome research often focuses on early childhood development, clinical disease populations, or older adults, while overlooking college-age students who experience significant social, environmental, and biological transitions. College students frequently face food insecurity, irregular eating patterns, chronic stress, inconsistent sleep schedules, and reduced access to nutrient-dense foods, all of which may influence microbial diversity and overall gut health.

This thesis explores how modern campus environments and lifestyle factors may contribute …

Statewide Multi-Year Wastewater Sequencing Reveals Dual Origins Of Hiv-1 Signal, Justin R Clark, Dylan Chirman, Harihara Prakash, Austen Terwilliger, Marlene Mcneese, Matt Ross, Mike Tisza, Sara J Javornik Cregeen, Loren Hopkins, Jennifer Deegan, Catherine L Troisi, Eric Boerwinkle, Kristina Mena, Fuqing Wu, Jason T Kimata, Marc Johnson, Devon Gregory, Faith E Fletcher, Thomas P Giordano, Anthony W Maresso

Faculty, Staff and Students Publications

Human immunodeficiency virus 1 (HIV-1) is a retrovirus which has infected 90 million people and resulted in over 40 million deaths. Despite advances in diagnostics, treatment, and prophylaxis, HIV-1 continues to spread due to undiagnosed and untreated infections. Traditional monitoring methods are ineffective when access to testing is limited or people do not seek care, particularly given the long period between infection and symptom onset, allowing undetected transmission to continue. Here, we use a hybrid-capture sequencing approach to track HIV-1 signal in municipal wastewater in 15 different cities over nearly 3 years. We obtain near-complete genomic coverage of HIV-1, enabling …

Rare Pediatric Venolymphatic Malformations: Pericardial Cyst Mimickers, Shelby E Walcott, Joseph Burns, Juan Pablo Sandoval Jones, Neil Cambronero, David Brennen, Thomas M Glenn, Betul Yilmaz Furtun

Faculty, Staff and Students Publications

Background: Pericardial cystic masses are rare, and exceedingly so in pediatrics. The clinical course of such masses in children is poorly described.

Case summary: We report 2 cases in 3- and 7-year-old children. Both were initially thought to represent pericardial cysts on imaging, but surgical excision and histopathology confirmed diagnoses of a venolymphatic malformation and an epicardial cyst, respectively. The first patient presented with abdominal pain, and the second patient was asymptomatic. Both recovered well after an uncomplicated surgical intervention.

Discussion: A small number of patients with pericardial masses will have symptoms thought to be related to compression of adjacent …

The Effect Of Hunger On The Likelihood Of Glucose Excursions In Adults With Overweight Or Obesity: Continuous Glucose Monitoring And Ecological Momentary Assessment Observational Study, Byunggul Lim, Phrashiah Githinji, Yue Liao, Jacob Szeszulski, Alexandra L Macmillan Uribe, Rebecca A Seguin-Fowler, Jane Anderson, Chad D Rethorst

Faculty, Staff and Students Publications

Background: Maintaining stable glucose levels is important for metabolic health. Glucose excursions (GEs), which are marked increases in glucose following food intake, have been associated with a higher risk for cardiovascular disease and metabolic dysfunction. Individuals with overweight or obesity who do not have diabetes may still show impaired glucose regulation, as reflected in increased glucose variability. Hunger, as a real-time physiological cue, may be associated with subsequent glucose changes and represents a potential target for just-in-time adaptive interventions.

Objective: This study aimed to investigate the temporal relationship between self-reported hunger and subsequent glucose dynamics, including the likelihood of GE …