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Full-Text Articles in Entire DC Network
Wearable Sensor Technology And Biomechanical Gait Analysis In Post-Stroke Rehabilitation: A Review With Implications For The Saudi Healthcare System, Abdullah H. Alzahrani
Wearable Sensor Technology And Biomechanical Gait Analysis In Post-Stroke Rehabilitation: A Review With Implications For The Saudi Healthcare System, Abdullah H. Alzahrani
Neurosciences
Stroke remains a major cause of disability worldwide, with gait impairment affecting up to 80% of survivors and contributing to long-term dependence, fall risk, and reduced quality of life. In Saudi Arabia, stroke incidence is rising, with a significant burden on younger populations and disparities in access to post-stroke rehabilitation services. Conventional gait analysis tools rely on expensive, specialized laboratory equipment, which limits their availability in low-resource and rural settings. Recent advances in wearable sensor technologies, including inertial measurement units, pressure insoles, and electromyography systems, offer portable, scalable, and cost-efficient options for assessing gait in real-world environments. These systems can …
Investigating The Patent Foramen Ovale–Migraine Link In Southern Saudi Arabia, Al-Amir Bassiouny Mohamed, Maeed Alkathiri, Saad Mushabab Ali Alqahtani, Naif H. Ali, Saima Kashif, Saad A. Alshahrani, Mohammed S. Alqahtani, Mohamed Gaber Mahmoud Gabr, Eltohami Zydan Dafalla, Basharat Hameed Zargar, Wael Qenawi, Ali Mohammed A. Alshehri, Fatimah Asiri, Ahmed Borai
Investigating The Patent Foramen Ovale–Migraine Link In Southern Saudi Arabia, Al-Amir Bassiouny Mohamed, Maeed Alkathiri, Saad Mushabab Ali Alqahtani, Naif H. Ali, Saima Kashif, Saad A. Alshahrani, Mohammed S. Alqahtani, Mohamed Gaber Mahmoud Gabr, Eltohami Zydan Dafalla, Basharat Hameed Zargar, Wael Qenawi, Ali Mohammed A. Alshehri, Fatimah Asiri, Ahmed Borai
Neurosciences
Objective: Migraine is a highly disabling neurological condition, and increasing attention has focused on a possible connection with patent foramen ovale (PFO).
Methods: This single-center observational study enrolled 45 individuals from January to April 2024: 30 migraine patients with PFO (Group 1) and 15 migraine patients without PFO serving as controls (Group 2). All subjects underwent transthoracic echocardiography and completed standardized instruments including the Migraine Disability Assessment (MIDAS), Headache Impact Test (HIT-6), Migraine Symptom Severity Scale (MSSS), Allodynia Symptom Checklist (ASC-12), Visual Aura Rating Scale (VARS), and Migraine Treatment Optimization Questionnaire (mTOQ-6).
Results: The participant's mean age was 37.3 ± …
Plasma Gdf15 Affects Long-Term Dementia Risk And Alters Neuroimmune Signaling, Cassandra O Blew, Michael R Duggan, Dimitrios Tsitsipatis, Gabriela T Gomez, Zulema Rodriguez-Hernandez, Luke C Pilling, Jingsha Chen, Eva Jacobsen, Heather E Dark, Yifei Lu, Shannon M Drouin, Cassandra M Joynes, Minhao Yao, Murat Bilgel, Abhay Moghekar, Qu Tian, Julián Candia, Mary Kaileh, Aditi Gupta, Krystyna Mazan-Mamczarz, Myriam Gorospe, Alexey Lyashkov, Yevgeniya Lukyanenko, Mika Kivimaki, Philipp Frank, Lori L Jennings, Valborg Gudmundsdottir, Vilmundur Gudnason, Lenore J Launer, Naoto Kaneko, Shintaro Kato, Makio Furuichi, Masaki Shibayama, Masahisa Katsuno, Keita Hiraga, Yukiko Nishita, Rei Otsuka, James R Pike, Mary R Rooney, Pascal Schlosser, Yuhan Cui, Guray Erus, Christos Davatzikos, Rebecca F Gottesman, Iwao Waga, Priya Palta, Christie Ballantyne, Michael Griswold, Zhonghua Liu, Luigi Ferrucci, Allison B Herman, Keenan A Walker
Plasma Gdf15 Affects Long-Term Dementia Risk And Alters Neuroimmune Signaling, Cassandra O Blew, Michael R Duggan, Dimitrios Tsitsipatis, Gabriela T Gomez, Zulema Rodriguez-Hernandez, Luke C Pilling, Jingsha Chen, Eva Jacobsen, Heather E Dark, Yifei Lu, Shannon M Drouin, Cassandra M Joynes, Minhao Yao, Murat Bilgel, Abhay Moghekar, Qu Tian, Julián Candia, Mary Kaileh, Aditi Gupta, Krystyna Mazan-Mamczarz, Myriam Gorospe, Alexey Lyashkov, Yevgeniya Lukyanenko, Mika Kivimaki, Philipp Frank, Lori L Jennings, Valborg Gudmundsdottir, Vilmundur Gudnason, Lenore J Launer, Naoto Kaneko, Shintaro Kato, Makio Furuichi, Masaki Shibayama, Masahisa Katsuno, Keita Hiraga, Yukiko Nishita, Rei Otsuka, James R Pike, Mary R Rooney, Pascal Schlosser, Yuhan Cui, Guray Erus, Christos Davatzikos, Rebecca F Gottesman, Iwao Waga, Priya Palta, Christie Ballantyne, Michael Griswold, Zhonghua Liu, Luigi Ferrucci, Allison B Herman, Keenan A Walker
Faculty, Staff and Students Publications
Growth/differentiation factor-15 (GDF15) is a secreted cytokine strongly associated with dementia risk. However, the extent to which GDF15 represents a biomarker and driver of dementia risk remains unclear. Across multiple cohorts, we demonstrated that plasma GDF15 is associated with greater dementia risk over 15- to 25-year follow-up periods when measured in midlife, with stronger associations observed for vascular, compared to Alzheimer's disease (AD), dementia. Two-sample Mendelian randomization supported plasma GDF15's mechanistic role in AD and related dementias, while cohort studies linked it to cerebral small vessel disease, neurodegeneration, phosphorylated tau, and a cerebrospinal fluid proteomic signature indicative of neuroimmune activation. …
Impact Of Anatomical Changes On Treatment Plan Robustness: A Comparative Study Of Intensity Modulated Proton Therapy And Volumetric Modulated Arc Therapy In Head And Neck Cancer., Jennifer Croft
Masters Projects
Head and neck cancer patients often experience anatomical changes during radiation therapy, including weight loss and tumor regression. These changes can alter planned dose distribution and affect treatment accuracy. Based on the previous understanding, IMPT offers highly conformal dose delivery but is sensitive to the patient’s geometry changes and daily setup uncertainties, while VMAT may provide greater stability under these uncertainties. However, as of today, there is no quantitative analysis and comparison between the two modalities using real clinical data. The purpose of this study is to compare the robustness of IMPT and VMAT for head and neck cancer by …
Adaptation Of The Transition Readiness Assessment Questionnaire For Pediatric-Onset Multiple Sclerosis: Protocol For A User-Centered Design Approach, Claudia Gambrah-Lyles, Aaron W Abrams, Sara Loud, Hollie Schmidt, Emily Blosberg, Melissa Wright, Kelsey E Poisson, Kristen S Fisher, Kimberly A O'Neill, Akash Virupakshaiah, John W Rose
Adaptation Of The Transition Readiness Assessment Questionnaire For Pediatric-Onset Multiple Sclerosis: Protocol For A User-Centered Design Approach, Claudia Gambrah-Lyles, Aaron W Abrams, Sara Loud, Hollie Schmidt, Emily Blosberg, Melissa Wright, Kelsey E Poisson, Kristen S Fisher, Kimberly A O'Neill, Akash Virupakshaiah, John W Rose
Faculty, Staff and Students Publications
Background: Pediatric-onset multiple sclerosis (POMS) is a chronic, progressive neurologic condition requiring lifelong management and coordinated transition from pediatric to adult care. Evidence-based guidelines identify transition readiness assessment as a core component of successful transition; however, most POMS clinics do not formally assess readiness, and existing tools do not address POMS-specific challenges, such as fluctuating disability, complex treatment regimens, and cognitive impairment. This gap underscores the need for a transition readiness measure tailored to POMS.
Objective: This paper aims to describe a stakeholder-engaged, implementation science-guided protocol for adapting the Transition Readiness Assessment Questionnaire (TRAQ) version 6.0 to reflect the unique …
Microglial Swell1 Deficiency Drives Male-Specific Seizure Vulnerability But Paradoxical Neuroprotection Through Impaired Phagocytosis, Abhijeet S Barath, Aastha Dheer, Laura Montier, Mekenzie M Peshoff, Emily Dale, Flavia Goche, Thanh Thanh Le Nguyen, Mastura Akter, Fangfang Qi, Dimitrios Kleidonas, Lauren Harris, Sarah A Jewanee, Anthony D Umpierre, Dale B Bosco, Koichiro Haruwaka, Rajan Sah, Long-Jun Wu, Rongzhuo Hua, Tejaswani Datla
Microglial Swell1 Deficiency Drives Male-Specific Seizure Vulnerability But Paradoxical Neuroprotection Through Impaired Phagocytosis, Abhijeet S Barath, Aastha Dheer, Laura Montier, Mekenzie M Peshoff, Emily Dale, Flavia Goche, Thanh Thanh Le Nguyen, Mastura Akter, Fangfang Qi, Dimitrios Kleidonas, Lauren Harris, Sarah A Jewanee, Anthony D Umpierre, Dale B Bosco, Koichiro Haruwaka, Rajan Sah, Long-Jun Wu, Rongzhuo Hua, Tejaswani Datla
The Brown Foundation: Institute of Molecular Medicine
The discovery of genes encoding the volume-regulated anion channel (VRAC) has enabled detailed exploration of its cell type-specific roles in the brain. LRRC8A (SWELL1) is the essential VRAC subunit. We observed seizure-induced, subunit-specific changes in microglial VRAC expression and investigated its function using conditional KO (cKO) of LRRC8A in microglia. SWELL1 cKO mice exhibited a male-specific increase in kainate-induced seizure severity, yet showed paradoxical neuroprotection against seizure-associated neuronal loss. Mechanistically, SWELL1 deletion led to a cell-autonomous reduction in microglial density and decreased release of VRAC-permeable neuroactive metabolites, including taurine, GABA, and glutamate in culture. Additionally, impaired phagocytic kinetics and reduced …
An Inf2-Dependent Actin-Mediated Step In Inositol 1,4,5-Trisphosphate Receptor Cluster Formation And Activity, Maite R. Zavala, Amrapali Ghosh, Suresh K. Joseph, Rajarshi Chakrabarti
An Inf2-Dependent Actin-Mediated Step In Inositol 1,4,5-Trisphosphate Receptor Cluster Formation And Activity, Maite R. Zavala, Amrapali Ghosh, Suresh K. Joseph, Rajarshi Chakrabarti
Department of Pathology, Anatomy, and Cell Biology Faculty Papers
Intracellular calcium signaling plays a vital role in regulating various cellular processes including gene regulation, motility, metabolism, and cell death. Inositol 1,4,5-trisphosphate receptors (IP3Rs) on the endoplasmic reticulum (ER) are a major cation channel that regulates stimulus-induced calcium release from the ER. While several molecular players regulate the activity of IP3R, its regulation by actin filaments was uncharacterized. Here, we show that actin filaments polymerized by the specific actin nucleator INF2 facilitate agonist-induced IP3R activity. Our results demonstrate that INF2-mediated actin filaments regulate the formation and/or stability of IP3R clusters on the ER that have been previously shown to be …
Sirt1 And Ifi16 Cooperatively Regulate Hbv Replication Via Epigenetic Modulation And Innate Immune Activation, Zahra Zahid Piracha, Umar Saeed, Neelam Abid, Syed Shahan Gilani, Hafiz Ahmad Bilal Akhtar Chughtai, Areesha Wasti, Muhammad Waseem, Dilber Uzun Ozsahin, Andromeda M. Nauli, Surya M. Nauli
Sirt1 And Ifi16 Cooperatively Regulate Hbv Replication Via Epigenetic Modulation And Innate Immune Activation, Zahra Zahid Piracha, Umar Saeed, Neelam Abid, Syed Shahan Gilani, Hafiz Ahmad Bilal Akhtar Chughtai, Areesha Wasti, Muhammad Waseem, Dilber Uzun Ozsahin, Andromeda M. Nauli, Surya M. Nauli
Pharmacy Faculty Articles and Research
Background
Hepatitis B virus (HBV) establishes persistent infection through the formation of a covalently closed circular DNA (cccDNA) minichromosome, which enables immune evasion and sustained viral replication. While SIRT1, IFI16, and STING are known to modulate antiviral pathways, their cooperative role in regulating HBV transcription and host immunity remains poorly defined.
Methods
We investigated the functional interplay between SIRT1, IFI16, and STING using confocal microscopy, chromatin immunoprecipitation (ChIP), gene silencing, and quantitative PCR in HBV-replicating cell models. Interactions with HBV cccDNA and effects on viral transcription and interferon-stimulated gene (ISG) expression were analyzed. Northern blotting and RT-qPCR were used to …
Conformational Cycling Of The Wntless Transporter Drives Trafficking And Secretion Of Wnt Morphogens, Yunhui Ge, Taciani De Almeida Magalhaes, Hongjiang Wu, Dick J H Van Den Boomen, Thu Uyen Nguyen, Tongyi Dou, Gaya P Yadav, Sukyeong Lee, Zhao Wang, Andrew Lemoff, Xuemei Luo, Sumitha S Menon, Min Zhang, Jin Wang, Zhicheng Jin, Jiansen Jiang, Adrian Salic, Pengxiang Huang
Conformational Cycling Of The Wntless Transporter Drives Trafficking And Secretion Of Wnt Morphogens, Yunhui Ge, Taciani De Almeida Magalhaes, Hongjiang Wu, Dick J H Van Den Boomen, Thu Uyen Nguyen, Tongyi Dou, Gaya P Yadav, Sukyeong Lee, Zhao Wang, Andrew Lemoff, Xuemei Luo, Sumitha S Menon, Min Zhang, Jin Wang, Zhicheng Jin, Jiansen Jiang, Adrian Salic, Pengxiang Huang
Faculty, Staff and Students Publications
Wnt proteins are lipid-modified morphogens fundamental in development and disease. During Wnt biogenesis, the G-protein-coupled receptor (GPCR)-like transporter Wntless (WLS) escorts lipidated Wnts from the endoplasmic reticulum to the plasma membrane, then transfers them to extracellular carriers, forming active and soluble morphogen-carrier complexes. To dissect the mechanisms involved, we solve cryo-EM structures of Wnt-bound WLS and unliganded WLS, and perform structure-guided functional experiments. Wnts engage WLS via three conserved hairpins, which are all required for Wnt trafficking to the cell surface and carrier-mediated secretion. Wnt release from cells is driven by dramatic conformational changes in the WLS transmembrane domain, reminiscent …
Neddylation Maintains Oocyte Quality By Stabilizing Mitochondrial Transcription, Avery A Ahmed, Tessa E Steenwinkel, Bethany K Patton, Peixin Jiang, Matthew D Meyer, Jaspreet K Rishi, Mei Leng, Alexander B Saltzman, Elizabeth S Anaya, Momal Sharif, Laurie J Mckenzie, Laura Detti, Anna Malovannaya, Sean M Hartig, Stephanie A Pangas
Neddylation Maintains Oocyte Quality By Stabilizing Mitochondrial Transcription, Avery A Ahmed, Tessa E Steenwinkel, Bethany K Patton, Peixin Jiang, Matthew D Meyer, Jaspreet K Rishi, Mei Leng, Alexander B Saltzman, Elizabeth S Anaya, Momal Sharif, Laurie J Mckenzie, Laura Detti, Anna Malovannaya, Sean M Hartig, Stephanie A Pangas
Faculty, Staff and Students Publications
Age-related decline in oocyte quality increases the risk of infertility, miscarriage, and birth defects. Mitochondrial dysfunction is a key contributor to this decline. Here, we report that oocyte-specific deletion of Uba3, which encodes the catalytic subunit of the E1 NEDDylation-activating complex, causes sterility in mice. Fully grown, germinal vesicle–stage Uba3 conditional knockout oocytes exhibit mitochondrial dysfunction, including elevated reactive oxygen species, impaired oxidative phosphorylation, and depletion of mitochondrially encoded RNA transcripts. Proteomic analysis identified alterations in mitochondrial-associated proteins, including enrichment of mitochondrial matrix and respiratory chain components and reduced abundance of electron transport chain complexes. These defects were associated …
3d Em Uncovers Mitochondrial Network Remodeling In Residual Triple Negative Breast Cancer After Conventional Chemotherapy Treatments, Mariah J Berner, Heather K Beasley, Benjamin Rodriguez, Audra Lane, Steven W Wall, Andrea G Marshall, Zer Vue, Larry Vang, Mokryun L Baek, Mason Killion, Faben Zeleke, Bryanna Shao, Dominique Parker, Autumn Peterson, Julie Sterling Rhoades, Lacey E Dobrolecki, Amber Crabtree, Annet Kirabo, Sepiso K Masenga, Prasanna Katti, Prasanna Venkhatesh, Chandravanu Dash, Michael T Lewis, Antentor Hinton, Gloria V Echeverria
3d Em Uncovers Mitochondrial Network Remodeling In Residual Triple Negative Breast Cancer After Conventional Chemotherapy Treatments, Mariah J Berner, Heather K Beasley, Benjamin Rodriguez, Audra Lane, Steven W Wall, Andrea G Marshall, Zer Vue, Larry Vang, Mokryun L Baek, Mason Killion, Faben Zeleke, Bryanna Shao, Dominique Parker, Autumn Peterson, Julie Sterling Rhoades, Lacey E Dobrolecki, Amber Crabtree, Annet Kirabo, Sepiso K Masenga, Prasanna Katti, Prasanna Venkhatesh, Chandravanu Dash, Michael T Lewis, Antentor Hinton, Gloria V Echeverria
Faculty, Staff and Students Publications
Mitochondria are hubs of metabolism and signaling. We previously demonstrated the importance of mitochondrial structure and function in chemotherapy-refractory triple-negative breast cancer (TNBC). Herein, we present the first 3D analysis of mitochondrial networks in human tumor tissues. Using serial block face scanning electron microscopy, we reconstructed 3,750 mitochondria and 800 lipid droplets (LDs) in naive and residual tumors persisting after conventional chemotherapies in two orthotopic patient-derived xenografts (PDX). Chemotherapies administered as monotherapy or in combination produced residual tumors that harbored mitochondria with significantly increased areas, volumes, and perimeters. We observed substantial reduction of mitochondrial intratumor heterogeneity following all treatments. Further, …
Centralized Review Of Alzheimer's Disease And Related Dementias Biomedical Repositories And Computational Methods, Johaan Kathilankal, Kewei Chen, Chen Zhao, Lingtao Chen, Seyedamin Pouriyeh, Zongxing Xie, Yixin Xie
Centralized Review Of Alzheimer's Disease And Related Dementias Biomedical Repositories And Computational Methods, Johaan Kathilankal, Kewei Chen, Chen Zhao, Lingtao Chen, Seyedamin Pouriyeh, Zongxing Xie, Yixin Xie
Faculty Articles
lzheimer’s disease and related dementias (ADRD) are neurodegenerative conditions characterized by progressive cognitive and functional decline. AD pathology is associated with extracellular amyloid-β plaques, intracellular tau neurofibrillary tangles, synaptic dysfunction, and neuronal loss. AD accounts for approximately 60–80% of dementia cases globally. In 2022, AD was the seventh leading cause of death in the United States, and the number of Americans aged 65 and older living with Alzheimer’s dementia is projected to increase substantially by 2060. Despite decades of research, AD/ADRD data resources remain fragmented across clinical, imaging, genetic, genomic, and therapeutic domains. This paper addresses that gap by providing …
Fibulin-4 Expressed In Metastatic Breast Cancer Is A Target Of Peptide-Based Imaging Probes And Experimental Therapeutics, Alexes C Daquinag, Sukhen C Ghosh, Solmaz Aghaamiri, Stephen M Farmer, Sheng Zhang, Servando Hernandez Vargas, Ashwin K Ramesh, Zhiqiang An, Ali Azhdarinia, Mikhail G Kolonin
Fibulin-4 Expressed In Metastatic Breast Cancer Is A Target Of Peptide-Based Imaging Probes And Experimental Therapeutics, Alexes C Daquinag, Sukhen C Ghosh, Solmaz Aghaamiri, Stephen M Farmer, Sheng Zhang, Servando Hernandez Vargas, Ashwin K Ramesh, Zhiqiang An, Ali Azhdarinia, Mikhail G Kolonin
The Brown Foundation: Institute of Molecular Medicine
There is a lack of approaches to detect and kill metastatic cells. As an agent for metastasis targeting, a cyclic peptide BLMP6 has been previously characterized. As a step toward translation, we designed AZDye555-labeled BLMP6 and demonstrated its homing to metastases of human MDA-MB-231 cells in mice. We show that 68Ga-radiolabeled BLMP6 can be used for the detection of MDA-MB-231 metastases. We designed a peptide-drug conjugate consisting of monomethyl auristatin E (MMAE) and BLMP6. We show that MMAE-BLMP6 kills MDA-MB-231 cells in cell culture and in vivo. In mouse models of lung metastases, treatment with MMAE-BLMP6 suppressed metastasis growth …
The Association Of Daily Urinary And Bowel Incontinence With Emotional Functioning In Young Adults With Spina Bifida: An Ecological Momentary Assessment Study, Audrey I. Young '26, Devon J. Hensel, Konrad M. Szymanki
The Association Of Daily Urinary And Bowel Incontinence With Emotional Functioning In Young Adults With Spina Bifida: An Ecological Momentary Assessment Study, Audrey I. Young '26, Devon J. Hensel, Konrad M. Szymanki
Student Research
Many young adults with spina bifida experience bladder and bowel leakage, but clinic visits often rely on people remembering and summarizing their symptoms over long periods. In this study, we asked participants to report their experiences each day for one month using simple phone-based check-ins. We found that leakage does not affect every day in the same way. On days when symptoms were more frequent or harder to manage, participants reported worse mood, more worry, and were more likely to avoid activities. These day-to-day experiences also related to over- all quality of life at the end of the month. For …
Placenta Accreta Spectrum Risk In Endometriosis: A Retrospective Cohort Study With Art Subanalysis, Madeline West, Amir Alsaidi, Michael A Belfort, Hendrik A Lombaard, Yamely H Mendez, Christina C Reed, Amir A Shamshirsaz, Jessian L Munoz
Placenta Accreta Spectrum Risk In Endometriosis: A Retrospective Cohort Study With Art Subanalysis, Madeline West, Amir Alsaidi, Michael A Belfort, Hendrik A Lombaard, Yamely H Mendez, Christina C Reed, Amir A Shamshirsaz, Jessian L Munoz
Faculty, Staff and Students Publications
No abstract provided.
Detection, Persistence, And Rising Prevalence Of Oncogenic Viruses Revealed By Wastewater Metagenomics, Harihara Prakash, Ryan K Perez, Matt Ross, Michael Tisza, Sara J Javornik Cregeen, Jennifer Deegan, Joseph F Petrosino, Eric Boerwinkle, Justin R Clark, Anthony W Maresso
Detection, Persistence, And Rising Prevalence Of Oncogenic Viruses Revealed By Wastewater Metagenomics, Harihara Prakash, Ryan K Perez, Matt Ross, Michael Tisza, Sara J Javornik Cregeen, Jennifer Deegan, Joseph F Petrosino, Eric Boerwinkle, Justin R Clark, Anthony W Maresso
Faculty, Staff and Students Publications
Oncogenic viruses cause high-risk cancers in humans and are responsible for nearly 20% of all cancer cases worldwide. Currently, very limited data exist in the realm of wastewater-based viral epidemiology (WBE) for cancer-causing viruses, with existing studies using targeted approaches (i.e., PCR-based approaches) that lack genomic resolution. In this study, we used a hybrid-capture approach to detect, filter, and sequence all known oncogenic virus signals from wastewater samples collected over 3 years (May 2022-May 2025) in 16 Texas cities, covering nearly 25% of the state's population. Once sequenced, we used custom computational tools designed for wastewater metagenomics to assign reads …
Anatomy And Function Of Vasopressin Receptor 1a-Expressing Neurons In The Limbic Thalamus, David Joseph Kahn
Anatomy And Function Of Vasopressin Receptor 1a-Expressing Neurons In The Limbic Thalamus, David Joseph Kahn
Theses and Dissertations
The vasopressin (Avp) system modulates social behavior through region-specific and sex-dependent mechanisms, yet the role of Avp receptor 1a (Avpr1a) signaling in the thalamus has remained largely unexplored. This dissertation examined the distribution and functional contributions of Avpr1a-expressing neurons across the mouse thalamus using a combination of genetic labeling, anatomical quantification, and chemogenetic manipulation. Mapping of Avpr1a-expressing neurons revealed a presence in most thalamic nuclei, with highest densities in the anterior thalamic nuclei and midline nuclei. Notably, Avpr1a-expressing neuron densities did not mirror previously described patterns of Avp innervation, and no sex differences in Avpr1a-expressing neuron density were observed. Chemogenetic …
The Role Of Mitochondrial And Lysosomal Damage In Neurotoxicity From Parkinson 'S-Related Environmental Exposures, Neda Ilieva
The Role Of Mitochondrial And Lysosomal Damage In Neurotoxicity From Parkinson 'S-Related Environmental Exposures, Neda Ilieva
ETDs from 2020-2029
Parkinson's disease (PD) is a progressive motor neurodegenerative disorder with a predominantly idiopathic etiology. More recently, however, the contribution of exogenous risk factors such as environmental contaminants has become of interest. Some endogenous genetic risk factors have been well characterized, but the mechanisms by which exogenous insults, such as environmental contaminants, drive dopaminergic neurodegeneration remain incompletely understood. This dissertation will address how environmental contaminants converge on mitochondrial and lysosomal dysfunction to activate parallel neurotoxic signaling pathways, with a focus on the LRRK2 kinase and the cGAS-STING innate immune pathway. Chapter 2 demonstrates that pharmacological inhibition of LRRK2 kinase activity protects …
Hla Allele And Haplotype Diversity In Central Anatolia: A Comparative Analysis Of Donors And Transplant Candidates Across Six Hla Loci (Hla-A, Hla-B, Hla-C, Hla-Drb1, Hla-Dqb1, And Hla-Dpb1), Emel Yantir, Eren Gündüz, Ertuğrul Çolak
Hla Allele And Haplotype Diversity In Central Anatolia: A Comparative Analysis Of Donors And Transplant Candidates Across Six Hla Loci (Hla-A, Hla-B, Hla-C, Hla-Drb1, Hla-Dqb1, And Hla-Dpb1), Emel Yantir, Eren Gündüz, Ertuğrul Çolak
Turkish Journal of Medical Sciences
Background/aim: Human leukocyte antigen (HLA) polymorphisms play a central role in immune recognition, disease susceptibility, and transplant success. The distribution of HLA alleles and haplotypes varies among ethnic and geographic populations. Despite several regional studies conducted in Türkiye, large-scale and comprehensive investigations comparing HLA profiles between healthy individuals and transplant candidates remain limited. The aim of this study was to compare the distribution of HLA profiles among donors, hematopoietic stem cell transplantation (HSCT) candidates, and solid organ transplant candidates.
Materials and methods: A total of 8472 individuals were included in the study, comprising 6422 donors and 2050 transplant candidates. HLA …
Impact Of Race-Based And Race-Free Ckd-Epi Equations On Estimated Glomerular Filtration Rate In A Multicenter Retrospective Cohort Of Autosomal Dominant Polycystic Kidney Disease, Özgür Akin Oto, Abdulmeci̇t Yildiz, İsmai̇l Koçyi̇ği̇t, Hali̇l Yazici, Sai̇de Eli̇f Güllülü Boz, Yi̇ği̇t Kurtuluş, Alparslan Demi̇ray, Müge Doksan, Vafa Suleymanova, Ece Ük, Alper Akin, Bahar Bastani, John C. Edwards, Krista Leigh Lentine, Yaşar Kerem Çalişkan
Impact Of Race-Based And Race-Free Ckd-Epi Equations On Estimated Glomerular Filtration Rate In A Multicenter Retrospective Cohort Of Autosomal Dominant Polycystic Kidney Disease, Özgür Akin Oto, Abdulmeci̇t Yildiz, İsmai̇l Koçyi̇ği̇t, Hali̇l Yazici, Sai̇de Eli̇f Güllülü Boz, Yi̇ği̇t Kurtuluş, Alparslan Demi̇ray, Müge Doksan, Vafa Suleymanova, Ece Ük, Alper Akin, Bahar Bastani, John C. Edwards, Krista Leigh Lentine, Yaşar Kerem Çalişkan
Turkish Journal of Medical Sciences
Background/aim: The 2021 revision of the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation, which eliminates race-based coefficients, may significantly influence disease staging and treatment in autosomal dominant polycystic kidney disease (ADPKD). This study was designed to evaluate the impact of the 2021 race-free CKD-EPI equation on estimated glomerular filtration rate (eGFR) and chronic kidney disease (CKD) staging in a multi-ethnic ADPKD population.
Materials and methods: In this multicenter, retrospective cohort study, 597 ADPKD patients were evaluated, including 515 self-identified as Caucasian and 82 as African-American. eGFR values at baseline and final follow-up were calculated using both the 2009 and 2021 …
Association Of Vitamin D, Oxidative Stress Markers, And Hormonal Factors With Male Infertility: A Case-Control Study In Pakistan, Muhammad Tayyab Ihsan, Ayesha Ali Malick, Sher Khan, Sher Khan, Muhammad Tahir Khan, Haq Nawaz Khan, Rehana Rehman
Association Of Vitamin D, Oxidative Stress Markers, And Hormonal Factors With Male Infertility: A Case-Control Study In Pakistan, Muhammad Tayyab Ihsan, Ayesha Ali Malick, Sher Khan, Sher Khan, Muhammad Tahir Khan, Haq Nawaz Khan, Rehana Rehman
Turkish Journal of Medical Sciences
Background/aim: Infertility impacts around 15% of couples worldwide, with male factors accounting for approximately 50% of cases. Despite this significant share, male infertility remains understudied, particularly in developing nations such as Pakistan. The present study explores the association between male infertility and seminal plasma concentrations of oxidative stress markers, inhibin B, and vitamin D, along with their relationship with sperm parameters.
Materials and methods: The dataset of the study consisted of seminal plasma levels from 30 fertile and 60 infertile males. Total antioxidant capacity (TAC), Vitamin D, malondialdehyde (MDA), 4-hydroxynonenal (4-HNE), lipid peroxide (LPO), superoxide dismutase (SOD), and inhibin B …
Preliminary Population Genetic Analysis Of 12 X-Str Loci In A Sample From Türkiye: Allele Frequencies, Haplotype Diversity, And Linkage Disequilibrium, Hizir Asliyüksek, Esra Güzel Tanoğlu, Abdulkadi̇r Can, Muhammed Fevzi̇ Esen, Yusuf Atan
Preliminary Population Genetic Analysis Of 12 X-Str Loci In A Sample From Türkiye: Allele Frequencies, Haplotype Diversity, And Linkage Disequilibrium, Hizir Asliyüksek, Esra Güzel Tanoğlu, Abdulkadi̇r Can, Muhammed Fevzi̇ Esen, Yusuf Atan
Turkish Journal of Medical Sciences
Background/aim: X-chromosomal short tandem repeats (X-STRs) are informative genetic markers in kinship testing and specific forensic contexts, particularly when standard autosomal approaches are less informative. This study aimed to provide preliminary allele frequency, haplotype diversity, and linkage disequilibrium (LD) data for 12 X-STR loci in a sample from Türkiye.
Materials and methods: A total of 136 unrelated individuals from Türkiye were genotyped for 12 X-STR loci. Inferential analyses of X-linked loci require diploid genotypes; therefore, allele frequencies, Hardy–Weinberg equilibrium (HWE), LD, and regional comparisons were based primarily on female samples (n = 115), whereas male haplotypes (n = 21) were …
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
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
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. …
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
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
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 …
Bridging The Methodological Gap In Multitrauma Literature: A Competency-Based Educational Framework And Clinical Appraisal Filter, Şaki̇r Hakan Aksu, Burcu Doğan, Merve Yazla
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
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
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
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) …