Digital Commons Network^™

Two Commonly Reported Incidental Variants In Otc Are Associated With Late-Onset Disease, Steven H Lang, Russell S Lo, Gareth A Cromie, Aimée M Dudley, Nicholas Ah Mew, Kara Simpson, Vernon Reid Sutton, Sandra Darilek, Saima Ali, Matthew T Snyder, Brendan Lee, Ronit Marom, Sandesh C S Nagamani, Lindsay C Burrage

Faculty, Staff and Students Publications

Asymptomatic individuals with pathogenic variants in OTC, the gene encoding ornithine transcarbamylase are increasingly being identified through cascade testing, carrier screening, or as secondary findings from genome-wide sequencing tests. However, guidance for counseling and management of such individuals is currently lacking. We selected two common OTC variants for phenotypic and functional characterization: NM_000531.6:c.118C>T p.(Arg40Cys) and NM_000531.6:c.1061T>G p.(Phe354Cys). The former is the most frequently reported pathogenic/likely pathogenic missense variant present in gnomAD, and the latter has been frequently encountered in our clinical practice. We performed a retrospective chart review at our center, queried the database of the Urea Cycle …

Genetic Determinants And Genomic Consequences Of Non-Leukemogenic Somatic Point Mutations, Joshua S Weinstock, Sharjeel A Chaudhry, Maria Ioannou, Maria Viskadourou, Paula Reventun, Yasminka A Jakubek, L Alexander Liggett, Cecelia Laurie, Jai G Broome, Alyna Khan, Kent D Taylor, Xiuqing Guo, Patricia A Peyser, Eric Boerwinkle, Nathalie Chami, Eimear E Kenny, Ruth J Loos, Bruce M Psaty, Russell P Tracy, Jennifer A Brody, Jeong H Yun, Michael H Cho, Ramachandran S Vasan, Sharon L Kardia, Jennifer A Smith, Laura M Raffield, Aurelian Bidulescu, Emily C O'Brien, Mariza De Andrade, Jerome I Rotter, Stephen S Rich, Russell P Tracy, Yii Der Ida Chen, C Charles Gu, Chao A Hsiung, Charles Kooperberg, Bernhard Haring, Rami Nassir, Rasika Mathias, Alex Reiner, Vijay G Sankaran, Charles J Lowenstein, Thomas W Blackwell, Goncalo R Abecasis, Albert V Smith, Hyun M Kang, Pradeep Natarajan, Siddhartha Jaiswal, Alexander Bick, Wendy S Post, Paul Scheet, Paul Auer, Theodoros Karantanos, Alexis Battle, Marios Arvanitis

Faculty, Staff and Students Publications

Clonal hematopoiesis (CH) is defined by the expansion of a lineage of genetically identical cells in blood. Genetic lesions that confer a fitness advantage, such as leukemogenic point mutations or mosaic chromosomal alterations (mCAs), are frequent mediators of CH. However, recent analyses of both single cell-derived colonies of hematopoietic cells and population sequencing cohorts have revealed CH frequently occurs in the absence of known driver genetic lesions. To characterize CH without known driver genetic lesions, we use 51,399 deeply sequenced whole genomes from the NHLBI TOPMed sequencing initiative to perform simultaneous germline and somatic mutation analyses among individuals without leukemogenic …

Varied Presentations Of Arterial Events In Vascular Ehlers-Danlos Syndrome, Milan Jaiswal, Sara Mansoorshahi, Sharon Zachariah, Thanila Macedo, Alana C Cecchi, Bihong Zhao, L Maximilian Buja, Dianna M Milewicz, Gustavo S Oderich, Rana O Afifi, Akiko Tanaka, Anthony L Estrera, Salman A Arain, Siddharth K Prakash

Faculty, Staff and Student Publications

Spontaneous arterial aneurysms and dissections are relatively common in patients with vascular Ehlers-Danlos syndrome, and arterial rupture accounts for most deaths. Members of the Aortic and Vascular Disease Clinic at UTHealth Houston hold a monthly conference that includes cardiothoracic and vascular surgeons, cardiologists, geneticists, radiologists, and pathologists to formulate multidisciplinary approaches for the management of complex cases. In this case series, we highlight the variable presentations and clinical evolution of complex aortic and vascular disease due to vascular Ehlers-Danlos syndrome.

Large Language Models As Information Providers For Appropriate Antimicrobial Use: Computational Text Analysis And Expert-Rated Comparison Of Chatgpt, Claude And Gemini, Marcello Di Pumpo, Maria Rosaria Gualano, Danilo Buonsenso, Francesca Raffaelli, Daniele Donà, Vittorio Maio, Patrizia Laurenti, Walter Ricciardi, Leonardo Villani

College of Population Health Faculty Papers

OBJECTIVES: Antimicrobial resistance is a critical public health threat. Large language models (LLMs) show great capability for providing health information. This study evaluates the effectiveness of LLMs in providing information on antibiotic use and infection management.

METHODS: Using a mixed-method approach, responses to healthcare expert-designed scenarios from ChatGPT 3.5, ChatGPT 4.0, Claude 2.0 and Gemini 1.0, in both Italian and English, were analysed. Computational text analysis assessed readability, lexical diversity and sentiment, while content quality was assessed by three experts via DISCERN tool.

RESULTS: 16 scenarios were developed. A total of 101 outputs and 5454 Likert-scale (1-5) scores were obtained …

Estrogen-Related Receptor Alpha Promotes Skeletal Muscle Regeneration And Mitigates Muscular Dystrophy, Thi Thu Hao Nguyen, Ya Xiang Huang, Svitlana Poliakova, Citu Citu, Eira Mann, Danesh H Sopariwala, Zhongming Zhao, Ashok Kumar, Vihang A Narkar

The Brown Foundation: Institute of Molecular Medicine

Skeletal muscle regeneration in chronic muscle diseases such as Duchenne Muscular Dystrophy (DMD) has remained clinically unsurmountable. Estrogen‐related receptor alpha (ERRα) plays a critical role in adult skeletal muscle metabolism and exercise fitness. Whether ERRα activation can drive muscle regeneration and mitigate dystrophy in DMD is not known. We have investigated ERRα signaling in pre‐clinical models of acute muscle injury and DMD. ERRα is induced in differentiating C2C12 myoblast and regenerating muscle. ERRα silencing suppressed proliferation and differentiation in C2C12 myoblasts. RNA sequencing revealed that angiogenic factor and proliferation genes were downregulated by ERRα knockdown in proliferating cells, whereas oxidative …

Cerebellar Dysfunction In Glaucoma Patients, Anisha Kasi, Ji Won Bang, Vivek Trivedi, Jeannie Au, Ian Conner, Gadi Wollstein, Joel Schuman, Rakie Cham, Kevin Chan

Wills Eye Hospital Papers

Glaucoma patients often have higher injurious fall rates compared to healthy older adults. However, little is known about the underlying neural mechanisms. Recent evidence shows cerebral changes beyond the visual pathway of glaucoma patients, yet it remains unclear whether the cerebellum, which plays an important role in balance and motor control, is involved in glaucoma. In this study, we sought to investigate cerebellar functional connectivity changes in glaucoma by comparing 32 glaucoma subjects and 10 age-matched healthy control subjects who underwent resting-state functional magnetic resonance imaging at 3 Tesla with eyes closed. After conducting both regions-of-interest and seed-to-voxel analyses, we …

Tng260 Is A Small-Molecule Corest Inhibitor That Sensitizes Stk11-Mutant Tumors To Anti-Pd-1 Immunotherapy, Leanne G Ahronian, Soumyadip Sahu, Minjie Zhang, Ayushi S Patel, Ke Geng, Reshmee Bhattacharya, Gerald S Falchook, Jonathan W Goldman, Alexander I Spira, Salman R Punekar, David R Spigel, Judy S Wang, Ferdinandos Skoulidis, Janaye Stephens, Mary Meynardie, Jaylen M Powell, Alfonso Lopez, Michela Ranieri, Magdalena A Ploszaj, Yi Jer Tan, Yeuan Ting Lee, Yi Yu, Jiehui Deng, Ting Chen, Patrick Mccarren, Alice Tsai, Suleman S Hussain, Brian Doyon, Kenjie Amemiya, Jacques Ermolieff, Preksha Shahagadkar, Nikitha M Das, Lauren R Flynn, Julie A Shields, Laney Danielczyk, Brian J Mcmillan, Andre Mignault, Samuel R Meier, Hsin-Jung Wu, David J Guerin, Douglas A Whittington, Chengyin Min, Iga Sienczylo, John P Maxwell, Heather J Dibenedetto, Hideo Watanabe, Brian B Haines, Alan Huang, Adam Crystal, Jannik N Andersen, Xinyuan Wu, Kwok-Kin Wong

Faculty, Staff and Student Publications

Patients with non–small cell lung cancer (NSCLC) with loss of the tumor suppressor gene STK11 are resistant to immune checkpoint therapies like anti–PD-1. In this study, we conducted an in vivo CRISPR screen that identified histone deacetylase 1 as a target to reverse anti–PD-1 resistance driven by loss of STK11 and developed TNG260, a potent small-molecule inhibitor of the CoREST complex with selectivity exceeding previously generated inhibitors in this class in preclinical studies. Treatment with TNG260 led to increased expression of immunomodulatory genes in STK11-deficient cancer cells. When combined with anti–PD-1, TNG260 induced immune-mediated stasis and/or regression in STK11 …

Conversion Of Failed Anatomic Total Shoulder Arthroplasty To Reverse Shoulder Arthroplasty Yields Similar Pain And Functional Outcomes To Primary Reverse Shoulder Arthroplasty But Has A Higher Baseplate Failure Rate: A Matched Cohort Study., Kevin A Hao, Trevor G Simcox, Keegan M Hones, Jonathan O Wright, Thomas W Wright, Tyler Lamonica, Bradley S Schoch, Joseph J King

Faculty, Staff and Student Publications

Background: To investigate whether patients who initially underwent anatomic total shoulder arthroplasty (aTSA) for glenohumeral osteoarthritis and were subsequently revised to reverse TSA (rTSA) due to rotator cuff failure or glenoid loosening ultimately attained a similar clinical outcome compared with those who underwent primary rTSA and identify predictors of poor outcomes in the former population.

Methods: We did a single-center retrospective review of 63 shoulders who underwent revision rTSA after primary aTSA that failed due to glenoid component loosening (n = 32), rotator cuff failure (n = 24), or recurrent instability (n = 7). Pain and functional outcomes at minimum …

Correction: Román-Ríos Et Al., Gabriel Román-Ríos, Gabriel Rosario-Ortiz, Marcos J Ramos-Benitez, Ricardo A Mosquera, Wilfredo De Jesús-Rojas

Faculty, Staff and Student Publications

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Preoperative Brain Mapping Predicts Language Outcomes After Eloquent Tumor Resection, Matthew T Muir, Kyle Noll, Sarah Prinsloo, Hayley Michener, Jeffrey I Traylor, Vinodh A Kumar, Chibawanye I Ene, Sherise Ferguson, Ho-Ling Liu, Jeffrey S Weinberg, Frederick Lang, Brian A Taylor, Stephanie J Forkel, Sujit S Prabhu

Faculty, Staff and Student Publications

When operating on gliomas near critical language regions, surgeons risk either leaving residual tumor or inducing permanent postoperative language deficits (PLDs). Despite the advent of intraoperative mapping techniques, subjective judgments frequently determine important surgical decisions. We aim to inform data-driven surgery by constructing a non-invasive mapping approach that quantitatively predicts the impact of individual surgical decisions on long-term language function. This study included 79 consecutive patients undergoing resection of language-eloquent gliomas. Patients underwent preoperative navigated transcranial magnetic stimulation (TMS) language mapping to identify language-positive sites ("TMS points") and their associated white matter tracts ("TMS tracts") as well as formal language …

Twenty Minutes Of Corsi Block Tapping Task Training Does Not Improve Mental Rotation In Adults With Stroke, Sarah A. Kettlety, Giuliet L. Kibler, Andrew Hooyman, Christina K. Holl, Sydney Y. Schaefer, Kristan A. Leech

Physical Therapy Faculty Articles and Research

Background: Visuospatial function is commonly impaired post-stroke and is associated with motor learning and recovery. A single, twenty-minute Corsi Block Tapping Task (CBTT) training session improved visuospatial function in young neurotypical adults; however, it is unclear whether this training would improve visuospatial function in adults with stroke.

Objective: To understand if a single, twenty-minute CBTT training session improved visuospatial function in adults with stroke compared to a no-training control group of adults with stroke.

Methods: Participants post-stroke were assigned to one of two groups. The training group completed twenty minutes of computerized CBTT training. The control group completed a survey …

Role Of M6a Mrna Methylation In Plant Defense, Rakesh Srivastava, Niraj Lodhi

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

N6-methyladenosine (m⁶A) is the most abundant and dynamic RNA modification in eukaryotic messenger and non-coding RNAs, playing a pivotal role in the post-transcriptional regulation of gene expression. The coordinated actions of m⁶A writers, erasers, and readers influence transcript stability, immune activation, and pathogen suppression. Growing evidence indicates that m⁶A fine-tunes the expression of defense-related genes, modulates RNA processing events, and is frequently hijacked by pathogens and pests to promote virulence. Notably, the dual role of m⁶A in enhancing plant defense and facilitating pathogen adaptation highlights its significance in the host–pathogen arms race. …

Resilience And Vulnerabilities Of Tumor Cells Under Purine Shortage Stress, Jianpeng Yu, Chen Jin, Cheng Su, David Moon, Michael A Sun, Hong Zhang, Xue Jiang, Fan Zhang, Nomi Tserentsoodol, Michelle L Bowie, Christopher J Pirozzi, Daniel J George, Robert Wild, Xia Gao, David M Ashley, Yiping He, Jiaoti Huang

Faculty, Staff and Students Publications

Purpose: Purine metabolism is a promising therapeutic target in cancer; however, how cancer cells respond to purine shortage, particularly their adaptation and vulnerabilities, remains unclear.

Experimental design: Using the recently developed purine shortage-inducing prodrug DRP-104 and genetic approaches, we investigated the responses in prostate, lung, and glioma cancer models.

Results: We demonstrate that when de novo purine biosynthesis is compromised, cancer cells employ microtubules to assemble purinosomes, multiprotein complexes of de novo purine biosynthesis enzymes that enhance purine biosynthesis efficiency. Although this process enables tumor cells to adapt to purine shortage stress, it also renders them more susceptible to the …

Sub-Ciliary Localization Of Cep290 And Effects Of Its Loss In Mouse Photoreceptors During Development, Abigail R. Moye, Michael A. Robichaux, Melina A. Agosto, Alexandre P. Moulin, Alexandra Graff-Meyer, Carlo Rivolta, Theodore G. Wensel

Faculty, Staff and Students Publications

No abstract provided.

Differential Bk Channel Potentiation By Vanzacaftor Enantiomers Enables Therapy For Modulator-Ineligible People With Cystic Fibrosis, Nathalie Baumlin, Sumedha Gunewardena, Scott H Randell, Frank T Horrigan, Matthias Salathe

Faculty, Staff and Students Publications

No abstract provided.

Predictors Of Long-Term Follow-Up Clinic Attendance And Continued Engagement Among Survivors Of Cancer In Childhood And Adolescence, Ji Yun Tark, Kayla L Foster, Shawki L Qasim, Omar Shakeel, Alicia Howell, Mary C Shapiro, Abiodun Oluyomi, Zoann E Dreyer, Ashley M Butler, Austin L Brown, Maria M Gramatges

Faculty, Staff and Students Publications

Purpose: Survivorship care is vital to screen for and manage late effects, yet follow-up remains suboptimal. We examined factors associated with long-term survivor clinic (LTSC) nonattendance, delayed initiation, and disengagement at a large, diverse pediatric cancer center.

Methods: We analyzed outcomes in 1138 survivorship-eligible childhood cancer survivors diagnosed between 2011 and 2019. Outcomes included (1) LTSC nonattendance (no visit ≥ 2 years post-treatment), (2) delayed LTSC visit initiation (first visit > 5 years from end of treatment), and (3) LTSC visit disengagement (no follow-up after initial LTSC visit). Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) for factors associated with …

Stereoelectroencephalography Reveals Neural Signatures Of Multisensory Integration In The Human Superior Temporal Sulcus During Audiovisual Speech Perception, Yue Zhang, John F Magnotti, Xiang Zhang, Zhengjia Wang, Yingjia Yu, Kathryn A Davis, Sameer A Sheth, H Isaac Chen, Daniel Yoshor, Michael S Beauchamp

Faculty, Staff and Students Publications

Human speech perception is multisensory, integrating auditory information from the talker's voice with visual information from the talker's face. BOLD fMRI studies have implicated the superior temporal gyrus (STG) in processing auditory speech and the superior temporal sulcus (STS) in integrating auditory and visual speech, but as an indirect hemodynamic measure, fMRI is limited in its ability to track the rapid neural computations underlying speech perception. Using stereoelectroencephalography (sEEG) electrodes, we directly recorded from the STG and STS in 42 epilepsy patients (25F, 17M). Participants identified single words presented in auditory, visual, and audiovisual formats with and without added auditory …

Alterations Of The Upper Respiratory Microbiome Among Children Living With Hiv Infection In Botswana, Sweta M Patel, John Farirai, Mohamed Z Patel, Sifelane Boiditswe, Leabaneng Tawe, Shimane Lekalake, Mogomotsi Matshaba, Andrew P Steenhoff, Tonya Arscott-Mills, Kristen A Feemster, Samir S Shah, Nathan Thielman, Coleen K Cunningham, Lawrence A David, David M Murdoch, Matthew S Kelly

Faculty, Staff and Students Publications

Children living with HIV (CLWH) are at high risk of colonization and infection by respiratory pathogens, though this risk can be reduced by other microbes in the upper respiratory microbiome. The impact of HIV infection on the pediatric upper respiratory microbiome is poorly understood, and we sought to address this knowledge gap by identifying associations between HIV infection and the nasopharyngeal microbiomes of Batswana children. We enrolled Batswana CLWH (< 5 years) and age- and sex-matched HIV-exposed, uninfected and HIV-unexposed, uninfected children in a cross-sectional study. We used shotgun metagenomic sequencing to compare nasopharyngeal microbiomes by HIV status. Among the 143 children in this study, HIV and HIV-associated immunosuppression were associated with alterations in nasopharyngeal microbiome composition, including lower abundances of Corynebacterium species associated with resistance to bacterial pathogen colonization. These findings suggest that the upper respiratory microbiome may contribute to the high risk of respiratory infections among CLWH.

Evaluation Of Anti-Bacterial Efficacy Of Ginger, Resin Gum, And Nigella Sativa Irrigants Against Enterococcus Faecalis: An In Vitro Study, Iman El Ghazzawy, Leen Imad Hasbini, Reem Chamseddine, Wael Betbout, Roula Abiad

International Arab Journal of Dentistry

Objectives: To evaluate the antibacterial efficacy of Ginger, Resin Gum, and Nigella Sativa, against Enterococcus Faecalis.

Methods: Thirty-eight extracted single-rooted premolars were inoculated with E.faecalis, except the negative control, and incubated for 4 weeks. After instrumentation samples were divided into 4 groups (n=7) according to final irrigation: NaOCl+EDTA (Group A), Nigella sativa (B), Resin Gum (C), Ginger (D), plus 2 control groups (n=5): Saline (E), and Saline without bacterial inoculation (F). Cultures were collected at baseline and after irrigation.

Results: One-way ANOVA showed that in groups A-D a statistically significant reduction of bacterial load was observed at …

Knowledge And Attitudes About Epilepsy Of Neurology Outpatients In Türkiye, Ayşe Pinar Ti̇ti̇z, Abi̇di̇n Erdal, Yaren Ağar, Buse Altunbaşak

Turkish Journal of Medical Sciences

Background/aim: We aimed to evaluate the level of epilepsy-related knowledge and attitude among neurology outpatients without an epilepsy diagnosis.

Materials and methods: The Epilepsy Knowledge and Attitude Scale was applied to 331 adult patients who were evaluated with various diagnoses in the neurology outpatient clinic.

Results: The participants comprised 331 people, 51.4% of whom were women and 48.6% of whom were men. The knowledge and attitude values increase significantly as the education level of our participants increased (p < 0.001). The knowledge and attitude scores of those who knew about an individual with epilepsy were significantly higher (p < 0.001). Attitude scale scores were higher in patients diagnosed with headache, multiple sclerosis, syncope, Behçet’s disease, essential tremor and sleep disorders compared with other groups.

Conclusion: This study focused on a subgroup of adults without epilepsy who had other neurological conditions. The findings may illuminate the critical …

Anthropometric And Metabolic Assessment In Adults With Down Syndrome: The Need For Novel Indices And Tailored Criteria ​, Seli̇n Teki̇n, Nergi̇s Basmaci, İnci̇lay Lay, Alper Gürlek

Turkish Journal of Medical Sciences

Background/aim: This study aimed to evaluate the metabolic profile of adults with Down syndrome (DS) using novel anthropometric and metabolic indices, while also highlighting the limitations of traditional obesity assessment methods compared with the non-DS population.

Materials and methods: This cross-sectional study included 22 adults with DS and 28 age- and sex-matched non-DS controls. Anthropometric measurements, including BMI, waist circumference (WC), and hip circumference (HC), were recorded alongside novel indices such as waist-to-height ratio (WHtR), body adiposity index (BAI), A body shape index (ABSI), and visceral adiposity index (VAI). Metabolic parameters (fasting plasma glucose, HbA1c, lipid profiles, HOMA-IR) and CBC-derived …

Association Between Nutritional Targets And Muscle Index Changes In Patients With Terminal Cancer Under Palliative Care ​, İrem Kiraç Utku, Burcu Çalişkan Aydoğmuş, Hati̇ce Nur Avcioğlu, Müge Çatikkaş, Ayfer Durak, Deni̇z Sevi̇ndi̇k Günay, Umut Safer

Turkish Journal of Medical Sciences

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Background/aim: Malnutrition and muscle wasting are common in terminal cancer patients and adversely affect prognosis. Bedside muscle ultrasonography (US) has emerged as a practical tool to assess nutritional status and monitor therapy. This study evaluated the relationship between achieving individualized nutritional targets and changes in muscle indices measured by US in terminal cancer patients receiving palliative care.

Materials and methods: Subcutaneous fat tissue thickness (SFTT), muscle thickness (MT), and cross-sectional area (CSA) of the rectus femoris (RF) and biceps brachii (BB) muscles were assessed by US over 10 days and normalized to height squared (m²). A total of 95 …

Contribution Of Genetic Test Results To Patient Management In Ophthalmology: Results From A Turkish Stargardt Disease Cohort ​, Fulya Yaylacioğlu Tuncay, Şengül Özdek, Burak Acar, Gülsüm Kayhan, Murat Yüksel, Hüseyi̇n Baran Özdemi̇r, İhsan Gökhan Güreli̇k, Mehmet Ali̇ Ergün

Turkish Journal of Medical Sciences

Background/aim: The aim of the study was to analyze the genotype and phenotype characteristics of Turkish patients with a clinical diagnosis of Stargardt disease and to evaluate how collaboration between the departments of medical genetics and ophthalmology contributes to patient management.

Materials and methods: The clinical findings, genetic testing workflow in the medical genetics department, and the genetic testing results of patients clinically diagnosed with Stargardt disease in the ophthalmology department were retrospectively analyzed.

Results: The study included 50 patients from 46 families. The genetic test reports confirmed the clinical diagnosis of Stargardt disease type 1 (STGD1) in 27 patients …

Reliability Of Handheld Autorefractometers In Patients After Cataract Surgery ​, Ayça Küpeli̇ Çinar, Abdulkadi̇r Can Çinar, Hande Güçlü

Turkish Journal of Medical Sciences

Background/aim: Accurate postoperative refraction assessment is essential for optimal visual rehabilitation after cataract surgery. Although handheld autorefractometers (HH-ARMs) are widely used in pediatric and uncooperative patients, their reliability in adults after cataract surgery remains uncertain. This study compared refractive outcomes obtained with a HH-ARM (Mediworks V100; Mediworks, Guangzhou, China) and a TB-ARM (Canon RK-F2; Canon Inc., Tokyo, Japan) to evaluate the clinical applicability of HH-ARM in this population.

Materials and methods: This prospective study included 150 eyes of 150 patients (aged 55–85 years) who underwent uncomplicated phacoemulsification with intraocular lens (IOL) implantation. At 1 month postoperatively, spherical value (SV), cylindrical …

Validation Of The Turkish Version Of The Assessment Of Systemic Sclerosis-Associated Raynaud’S Phenomenon (Asrap) ​, Duygu Temi̇z Karadağ, Şeyma Yilmaz, Betül Di̇kkanoğlu Demi̇rok, John D. Pauling, Ayten Yazici, Ayşe Çefle

Turkish Journal of Medical Sciences

No abstract provided.

Investigating Patient Non-Attendance To Healthcare Appointments In Türkiye: Data From A State Hospital And An Oral And Dental Health Center, Eyüp Sari, Ali̇ Ni̇yazi̇ Kurtcebe, Ci̇han Döğer, Recep Aydin

Turkish Journal of Medical Sciences

Background/aim: To determine the frequency and reasons for appointment nonattendance in a state hospital and a dental health center in a densely populated district of Türkiye, and to identify related factors to guide preventive measures.

Materials and methods: This retrospective cross-sectional study included patients who scheduled appointments at Ankara Etimesgut State Hospital and Etimesgut Oral and Dental Health Center through the Centralized Patient Appointment System (Merkezi Hekim Randevu Sistemi; MHRS) in February 2024. Nonattendees were contacted in March 2024 to determine reasons for nonattendance.

Results: A total of 30,552 appointments were analyzed (1978 dental, 28,574 hospital). The overall nonattendance rate …

Fear Of Covid-19 And Hygiene Behaviors: A Study Of Secondary School Students In İstanbul ​, Zozan Göksu, Hayri̇ye Kirkoyun Uysal, Mehmet Demi̇rci̇, Di̇lek Dülger, Seda Eki̇ci̇

Turkish Journal of Medical Sciences

Background/aim: This study investigates the relationship between fear of COVID-19, measured using the Fear of COVID-19 Scale (FCV-19S), and the hygiene behaviors of secondary school students, assessed with the Hygiene Behavior Scale (HBS).

Materials and methods: Included in this cross-sectional study were 206 secondary school students. The study data were analyzed using multivariate linear regression.

Results: No relationship was found between the fear of COVID-19 scale (FCV-19S) score of the student sample and the mean total HBS and subdimension values (p > 0.05). It was noted that positive hygiene behaviors decreased as the scale score increased. Students with retired mothers scored …

Molecular Determinants Of Neoadjuvant Chemotherapy Resistance In Breast Cancer: An Analysis Of Gene Expression And Tumor Microenvironment, Hedda Michelle Guevara-Nieto, Carlos A. Orozco-Castaño, Rafael Parra-Medina, Jenny Nathaly Poveda-Garavito, Jone Garai, Jovanny Zabaleta, Liliana López-Kleine, Alba Lucia Combita

School of Graduate Studies Faculty Publications

Neoadjuvant chemotherapy (NAC) is a critical component of breast cancer treatment, but the molecular mechanisms underlying resistance remain poorly understood. This study aimed to identify transcriptomic changes associated with NAC resistance across four breast cancer subtypes: Luminal A, Luminal B/HER2-positive, Luminal B/HER2-negative, and Triple-Negative Breast Cancer (TNBC). RNA-seq analysis was performed on paired pre- and post-NAC breast cancer samples from 32 nonresponders. Differentially expressed genes (DEGs) were identified, and functional enrichment analyses were conducted. Protein-protein interaction (PPI) networks were constructed to identify hub genes. Tumor microenvironment (TME) infiltration was estimated using deconvolution algorithms. The results revealed distinct gene expression profiles …

A Social Media Campaign And Web-Based Survey About Prostate Cancer Genetics: Mixed Methods Study, Amy Leader, Stacy Loeb, Preethi Selvan, Ashley Hunter, Rebecca Hartman, Scott Keith, Veda Giri

Department of Medical Oncology Faculty Papers

BACKGROUND: Germline genetic variants are important for prostate cancer (PCa) management and hereditary cancer risk assessment, but testing is underused. Furthermore, patients are often unaware of the genetic connections to PCa. Social media is increasingly serving as a source of awareness for health information and a method to gather data from a large population.

OBJECTIVE: There were three objectives: to (1) create and test social media messages related to PCa genetics and genetic testing, (2) determine which social media message was most engaging, and (3) assess knowledge of and attitudes toward PCa genetic testing through an online survey using the …

Current Insights On Predicting Vestibular Diseases Using Machine Learning, Emre Söylemez, Muhammed Mustafa Şeker

Turkish Journal of Medical Sciences

The vestibular system is one of the three main systems responsible for maintaining balance and posture. Accurate vestibular inputs enable the perception of the head’s position and movement in space, and ensure coordination between head movements, eye movements, balance, and posture. Any dysfunction in the peripheral vestibular end organs, the vestibular nerve, or the central vestibular system may lead to vertigo, dizziness, and gait disturbances in individuals. Some syndromes that cause vertigo symptoms can be life threatening. Although peripheral vestibular pathologies are generally benign, they can reduce patients’ quality of life, cause falls, and hinder independence. Therefore, the diagnosis and …