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Characteristics Of Athletic Trainers That Are Satisfied And Dissatisfied With Their Compensation, K Ef Mair, J P. Young, L E. Eberman Feb 2025

Characteristics Of Athletic Trainers That Are Satisfied And Dissatisfied With Their Compensation, K Ef Mair, J P. Young, L E. Eberman

Clinical Practice in Athletic Training

Introduction: Job satisfaction among athletic trainers (ATs), particularly in relation to compensation, is a critical factor influencing retention and career fulfillment. Examining the factors linked to earnings satisfaction may offer insight into how workplace conditions can be improved to better support ATs. The purpose of our study was to investigate the attributes that distinguish ATs content with their compensation from those who are dissatisfied. Methods: We used a cross-sectional, web-based survey to gather AT compensation data, of which 1,887 participants responded to a question regarding their satisfaction with compensation. Respondents were divided into two groups based on their satisfaction with …


Enhancing Clinic Efficiency: A Quality Improvement Initiative For Postoperative Patient Care In An Outpatient Orthopedic Physician Practice Setting, D Stepan, T Jp Greffly, R M. Williams Feb 2025

Enhancing Clinic Efficiency: A Quality Improvement Initiative For Postoperative Patient Care In An Outpatient Orthopedic Physician Practice Setting, D Stepan, T Jp Greffly, R M. Williams

Clinical Practice in Athletic Training

Introduction: Following orthopedic surgery, patient post-operative (post-op) visits are deemed global surgical observations where day 00 to day 90 are appointments that cannot be billed. Patients are typically seen 3 times during this global period. Thus, the outpatient clinic needs to have non-billable time slots each day for these patients. The current scheduling model double books patients every 15 minutes, with the physician being the primary provider seeing patients for post-op visits. Therefore, the clinic has demonstrated inefficiencies with scheduling these patients while having sufficient appointments available for billable patients. This quality improvement initiative aimed to decrease post-op patient visits …


Assessing The Contribution Of Rare Protein-Coding Germline Variants To Prostate Cancer Risk And Severity In 37,184 Cases, Jonathan Mitchell, Niedzica Camacho, Patrick Shea, Konrad H Stopsack, Vijai Joseph, Oliver S Burren, Ryan S Dhindsa, Abhishek Nag, Jacob E Berchuck, Amanda O'Neill, Ali Abbasi, Anthony W Zoghbi, Jesus Alegre-Díaz, Pablo Kuri-Morales, Jaime Berumen, Roberto Tapia-Conyer, Jonathan Emberson, Jason M Torres, Rory Collins, Quanli Wang, David Goldstein, Athena Matakidou, Carolina Haefliger, Lauren Anderson-Dring, Ruth March, Vaidehi Jobanputra, Brian Dougherty, Keren Carss, Slavé Petrovski, Philip W Kantoff, Kenneth Offit, Lorelei A Mucci, Mark Pomerantz, Margarete A Fabre Feb 2025

Assessing The Contribution Of Rare Protein-Coding Germline Variants To Prostate Cancer Risk And Severity In 37,184 Cases, Jonathan Mitchell, Niedzica Camacho, Patrick Shea, Konrad H Stopsack, Vijai Joseph, Oliver S Burren, Ryan S Dhindsa, Abhishek Nag, Jacob E Berchuck, Amanda O'Neill, Ali Abbasi, Anthony W Zoghbi, Jesus Alegre-Díaz, Pablo Kuri-Morales, Jaime Berumen, Roberto Tapia-Conyer, Jonathan Emberson, Jason M Torres, Rory Collins, Quanli Wang, David Goldstein, Athena Matakidou, Carolina Haefliger, Lauren Anderson-Dring, Ruth March, Vaidehi Jobanputra, Brian Dougherty, Keren Carss, Slavé Petrovski, Philip W Kantoff, Kenneth Offit, Lorelei A Mucci, Mark Pomerantz, Margarete A Fabre

Faculty, Staff and Students Publications

To assess the contribution of rare coding germline genetic variants to prostate cancer risk and severity, we perform here a meta-analysis of 37,184 prostate cancer cases and 331,329 male controls from five cohorts with germline whole exome or genome sequencing data, and one cohort with imputed array data. At the gene level, our case-control collapsing analysis confirms associations between rare damaging variants in four genes and increased prostate cancer risk: SAMHD1, BRCA2 and ATM at the study-wide significance level (P <  1×10−8), and CHEK2 at the suggestive threshold (P <  2.6×10−6). Our case-only analysis, reveals that rare damaging variants in AOX1 are associated with more aggressive disease (OR = 2.60 [1.75–3.83], …


Silencing Faf2 Mitigates Alcohol-Induced Hepatic Steatosis By Modulating Lipolysis And Pcsk9 Pathway, Nazmul Huda, Praveen Kusumanchi, Yanchao Jiang, Hui Gao, Themis Thoudam, Ge Zeng, Nicholas J. Skill, Zhaoli Sun, Suthat Liangpunsakul, Jing Ma, Zhihong Yang Feb 2025

Silencing Faf2 Mitigates Alcohol-Induced Hepatic Steatosis By Modulating Lipolysis And Pcsk9 Pathway, Nazmul Huda, Praveen Kusumanchi, Yanchao Jiang, Hui Gao, Themis Thoudam, Ge Zeng, Nicholas J. Skill, Zhaoli Sun, Suthat Liangpunsakul, Jing Ma, Zhihong Yang

School of Medicine Faculty Publications

BACKGROUND: Chronic alcohol consumption leads to lipid accumulation, oxidative stress, cellular damage, and inflammation in the liver, collectively referred to as alcohol-associated liver disease (ALD). FAF2/UBXD8/ETEA (Fas-associated factor 2) is a ubiquitin ligase adaptor protein that plays a crucial role in the ubiquitin-mediated degradation of misfolded proteins in the endoplasmic reticulum. A recent genome-wide association study indicated an association between FAF2 and ALD; however, the exact contribution of FAF2 to ALD pathogenesis remains unclear. METHODS: FAF2 was knocked down using AAV-delivered shRNA in C57/BL6 mice. Mice were subjected to a chronic-plus-single binge ethanol feeding (NIAAA) model. Nine hours after gavage, …


Investigating The Relationship Between The Circadian Clock, Age, And Lifestyle, Samuel Park, Amaka Eziakonwa, Amega Nguyen, Madison Payne, Erich Stahmer, Alexis Salinas, Payson Broome, Angel Oliver, Christian Mccormick, Jasmyn Brown, Julie A. Zacharias-Simpson, Jutta Ward, Deborah Bell-Pedersen Feb 2025

Investigating The Relationship Between The Circadian Clock, Age, And Lifestyle, Samuel Park, Amaka Eziakonwa, Amega Nguyen, Madison Payne, Erich Stahmer, Alexis Salinas, Payson Broome, Angel Oliver, Christian Mccormick, Jasmyn Brown, Julie A. Zacharias-Simpson, Jutta Ward, Deborah Bell-Pedersen

Annual Research Symposium

This poster presentation aims to understand how circadian clock strength and phase are affected by age and lifestyle. By analyzing changes in physiological rhythms, the study seeks to develop strategies for promoting healthy aging by optimizing circadian function.


Paradigm Shift In Obesity Treatment: An Extensive Review Of Current Pipeline Agents, Ecesu Çeti̇n, Brian Pedersen, Mehmet Furkan Burak Feb 2025

Paradigm Shift In Obesity Treatment: An Extensive Review Of Current Pipeline Agents, Ecesu Çeti̇n, Brian Pedersen, Mehmet Furkan Burak

Turkish Journal of Medical Sciences

Obesity is a multifaceted disease that poses a significant public health challenge. Recent discoveries in understanding the biological pathways that regulate satiety and metabolism have led to a shift in the treatment paradigm for obesity. Thus, the gap between pharmacological and surgical interventions has diminished. The latest approved anti-obesity medications are achieving weight loss comparable to surgery. These GLP-1 analog-based therapies not only cause substantial weight loss but also improve obesity-associated comorbidities. However, there are still unmet needs in obesity care, and treatment options with alternative pathways are necessary. Whether achieved through lifestyle changes or medication, weight loss often leads …


Synthetic Osteobiologics In Spine Surgery: A Review, Aydin Si̇nan Apaydin, Eli Johnson, Prince Antwi, Brett Rocos, Michael M. Haglund, Christopher Shaffrey, Peter Passias, Muhammad Adb-El-Barr, Khoi Than Feb 2025

Synthetic Osteobiologics In Spine Surgery: A Review, Aydin Si̇nan Apaydin, Eli Johnson, Prince Antwi, Brett Rocos, Michael M. Haglund, Christopher Shaffrey, Peter Passias, Muhammad Adb-El-Barr, Khoi Than

Turkish Journal of Medical Sciences

Background/aimOsteobiologics are increasingly used in orthopedics and spine surgery to facilitate bone healing and prevent non-union. Synthetic osteobiologics are artificial materials crafted in laboratories that aim to replicate the natural composition and functionality of bone. Notable examples, such as calcium phosphate and calcium sulfate, are engineered to mirror the mineral aspect of bone. They mimic human bone functionality, exhibiting osteoconductive, osteoinductive, and osteogenic properties. These characteristics promote cell attachment, migration, recruitment, and differentiation. Consequently, synthetic osteobiologics (osteoconductive grafts) have been introduced in bone fracture repair. The main strength of synthetic osteobiologics in spine surgery lies in improving fusion rates and …


Genetic Mutations And Prognostic Indicators In Differentiated Thyroid Cancer: A Molecular Perspective, Hali̇m Özçevi̇k, Müge Öner Tamam, Gündüzalp Buğrahan Babacan, Selma Şengi̇z Erhan, Merve Nur Acar Tayyar, Bi̇ray Ertürk Feb 2025

Genetic Mutations And Prognostic Indicators In Differentiated Thyroid Cancer: A Molecular Perspective, Hali̇m Özçevi̇k, Müge Öner Tamam, Gündüzalp Buğrahan Babacan, Selma Şengi̇z Erhan, Merve Nur Acar Tayyar, Bi̇ray Ertürk

Turkish Journal of Medical Sciences

Background/aim: This study aimed to investigate the relationship between the presence of BRAF, HRAS, NRAS, and KRAS gene mutations and the development of dedifferentiation (iodine-refractory disease) and extrathyroidal disease in patients with differentiated thyroid carcinoma (DTC).Materials and methods: Seventy-seven adult patients classified as intermediate and high-risk according to the ATA 2015 guidelines, who underwent total thyroidectomy followed by radioiodine I-131(RAI) therapy between June 2014 and December 2022, were included. Clinical data were collected via the hospital information system, including the number of surgeries, RAI treatments, and levels of thyroglobulin(Tg), anti-thyroglobulin, and thyroid-stimulating hormone. Histopathological subtypes of DTC were re-evaluated, and …


Impact Of Concurrent Parathyroid Adenoma On The Recurrence Of Differentiated Thyroid Carcinoma: A Retrospective Study, Derya Çayir, Alev Çinar, Mehmet Bozkurt, Bahadir Külah Feb 2025

Impact Of Concurrent Parathyroid Adenoma On The Recurrence Of Differentiated Thyroid Carcinoma: A Retrospective Study, Derya Çayir, Alev Çinar, Mehmet Bozkurt, Bahadir Külah

Turkish Journal of Medical Sciences

Background/aim: The impact of concurrent parathyroid adenoma in differentiated thyroid carcinoma remains unclear. This study was performed to compare the recurrence rates of patients operated on for differentiated thyroid carcinoma with concomitant parathyroid adenoma and those operated on for thyroid carcinoma without detected parathyroid adenoma.Materials and methods: This retrospective study examined 340 patients who underwent total thyroidectomy for thyroid carcinoma at our institution. We compared the patients with concurrent parathyroid adenoma to those without, assessing clinical, laboratory, surgical, and histopathological findings and thyroid carcinoma recurrence over a 6-year postoperative period.Results: Among all patients, 53/340 (16%) were identified with parathyroid adenoma, …


Evaluation Of Nonmotor Symptoms In Myasthenia Gravis Patients, Aysel Tekeşi̇n, Çağla Şi̇şman, Ufuk Emre Toprak, Alena Sar, Burcu Akalin, Goncagül Koşargeli̇r, Meli̇h Tütüncü, Enes Yi̇ği̇t Feb 2025

Evaluation Of Nonmotor Symptoms In Myasthenia Gravis Patients, Aysel Tekeşi̇n, Çağla Şi̇şman, Ufuk Emre Toprak, Alena Sar, Burcu Akalin, Goncagül Koşargeli̇r, Meli̇h Tütüncü, Enes Yi̇ği̇t

Turkish Journal of Medical Sciences

Background/aim: Myasthenia gravis (MG) is chronic autoimmune disorder characterized primarily by muscle weakness and fatigue, due to autoantibodies targeting acetylcholine receptor at neuromuscular junction. In this study, we aimed to evaluate non-motor symptoms in myasthenia gravis patients and compare them with disease duration, severity and clinical features.Materials and methods: This prospective study was conducted with thirty-five myasthenia gravis patients and thirty-five healthy volunteers. Total of 35 patients, 17 women and 18 men with mean age of 52.9±13.6 years constituted patient group. Control group consisted of total of 35 participants, 23 women and 12 men with mean age of 46.9±12.2 years. …


Integrated Convolutional Neural Network For Skin Cancer Classification With Hair And Noise Restoration, Ni̇dhi̇ Bansal, Sri̇dhar Sundaramurthy Feb 2025

Integrated Convolutional Neural Network For Skin Cancer Classification With Hair And Noise Restoration, Ni̇dhi̇ Bansal, Sri̇dhar Sundaramurthy

Turkish Journal of Medical Sciences

Background/aim: Skin lesions are commonly diagnosed and classified using dermoscopic images. There are many artifacts visible in dermoscopic images, including hair strands, noise, bubbles, blood vessels, poor illumination, and moles. These artifacts can obscure crucial information about lesions, which limits the ability to diagnose lesions automatically. This study investigated how hair and noise artifacts in lesion images affect classifier performance and how they can be removed to improve diagnostic accuracy.Materials and methods: A synthetic dataset created using hair simulation and noise simulation was used in conjunction with the HAM10000 benchmark dataset. Moreover, integrated convolutional neural networks (CNNs) were proposed for …


Relationship Between Bleeding Risk And Arterial Stiffness In Patients With Cerebral Aneurysms, Mehmet Seli̇m Gel, Hasan Çağri Postuk, İskender Samet Daltaban, Savaş Özer, Ercan Aydin, Emrah Keski̇n Feb 2025

Relationship Between Bleeding Risk And Arterial Stiffness In Patients With Cerebral Aneurysms, Mehmet Seli̇m Gel, Hasan Çağri Postuk, İskender Samet Daltaban, Savaş Özer, Ercan Aydin, Emrah Keski̇n

Turkish Journal of Medical Sciences

Background/aimA risk factor assessment evaluating the susceptibility of cerebral aneurysms (CA) to rupture has not yet been established. Therefore, the clinical management of unruptured CA remains uncertain. Our aim was to assess whether arterial stiffness is associated with the development of rupture in patients with cerebral aneurysms.Materials and methodsAfter magnetic resonance angiography, 49 patients with cerebral aneurysm and subarachnoid haemorrhage and ruptured cerebral aneurysm detected by digital substraction angiography were included in the study. Arterial stiffness was measured using the VaSera VS-1000 vascular scanning system, expressed as cardio-ankle brachial index (CAVI). CAVI values were compared between patient groups.ResultsThe mean age …


Relationship Between The Density Of Degenerated Neurons In The Carotid Body And Changes In Blood Ph, Hakan Kina, Aydin Si̇nan Apaydin Feb 2025

Relationship Between The Density Of Degenerated Neurons In The Carotid Body And Changes In Blood Ph, Hakan Kina, Aydin Si̇nan Apaydin

Turkish Journal of Medical Sciences

Background/aimCarotid artery is the majority artery for brain feeding. Carotid Bodies (CBs) are located in carotid bifurcation and regulate body fluid pH. We aimed to evaluate the changes in CB-related pH levels as a consequence of degeneration induced by the ligation of both Common Carotid Arteries (BCCAL).Materials and methodsWe included 23 adult male New Zealand rabbits. A control group (n= 5); a sham group (0.5 mL saline injected n=5) and the main study group (subjected to the BCCAL procedure, n = 13). We monitored and recorded pH levels, and cardiac rhythms before, during, and after the experiments at two-day intervals. …


Relationship Between Hand Osteoarthritis Severity And Serum Resistin Levels In Women With Metabolic Syndrome: A Case-Control Study, Eki̇n Başak Doğanci, Berna İmge Aydoğan, Ni̇lgün Başkal, Safi̇ye Tuncer Feb 2025

Relationship Between Hand Osteoarthritis Severity And Serum Resistin Levels In Women With Metabolic Syndrome: A Case-Control Study, Eki̇n Başak Doğanci, Berna İmge Aydoğan, Ni̇lgün Başkal, Safi̇ye Tuncer

Turkish Journal of Medical Sciences

Background/aimWe aimed to determine the relationship between clinical and radiological severity of hand osteoarthritis and serum resistin levels in women diagnosed with metabolic syndrome.Materials and methodsThe study was designed as a case-control study. A total of 87 women aged 50-65 years were evaluated; 29 patients diagnosed with metabolic syndrome and hand osteoarthritis (MetS (+), hand OA (+); Group 1), 29 patients without metabolic syndrome but with hand osteoarthritis (MetS (-), hand OA (+); Group 2) and 29 healthy controls (MetS (-), hand OA (-); Group 3). The diagnostic criteria of American College of Rheumatology (ACR) for hand osteoarthritis and National …


In Vitro Anticancer, Antioxidant And Chelating Activities Of Natural Organosulfur Compounds Originated From Türkiye: An Investigation On Breast And Colorectal Cancer Cells, Ümmügülsüm Polat Korkunç, Hi̇lal Çalik, Leyla Polat Köse, Rabi̇a Çakir Koç, Emi̇ne Karakuş Feb 2025

In Vitro Anticancer, Antioxidant And Chelating Activities Of Natural Organosulfur Compounds Originated From Türkiye: An Investigation On Breast And Colorectal Cancer Cells, Ümmügülsüm Polat Korkunç, Hi̇lal Çalik, Leyla Polat Köse, Rabi̇a Çakir Koç, Emi̇ne Karakuş

Turkish Journal of Medical Sciences

Background/aim:Taşköprü garlic, cultivated in the Taşköprü region of Kastamonu province, is a very famous in Türkiye.This study aimed to determine the anticancer and antioxidant effects of extracts from Kastamonu Taşköprü garlic on human breast cancer and colorectal cancer cells.Materials and methods:Taşköprü garlic, which contains natural organosulfur compounds, has a geographical registration. Taşköprü garlic, which contains natural organosulfur compounds (OSCs), has a geographical registration.Garlic contains oil- and water-soluble OSCs known to exhibit anticancer activity by interfering with MCF-7 and Caco-2 proliferation and tumor metastasis. In this study, the antiproliferative activity of oil- and water-soluble garlic extracts with and without glutathione at …


Are Cinnamon Derivatives Effective And Safe For Diabetes?, Methi̇ye Mancak, Ufuk Koca Çalişkan Feb 2025

Are Cinnamon Derivatives Effective And Safe For Diabetes?, Methi̇ye Mancak, Ufuk Koca Çalişkan

Turkish Journal of Medical Sciences

Background/aimCinnamon spice is obtained by drying the tree bark of the Cinnamomum Schaeff genus. Cinnamomum genus belongs to the Lauraceae family and there are approximately 250 different species around the world. The most common species in the market are Cinnamomum verum J. S. Presl, C. cassia (L.) J. Presl, C. burmannii (Nees & T. Nees) Blume and C. loureiroi Nees. Cinnamon and its by-products are used for many years for their antidiabetic effect. In this research, the major chemical content and in vitro antidiabetic activities of different commercially available cinnamon samples were evaluated to conclude whether they are safe to …


Association Of Certain Biochemical Parameters Related To Bone Cycle With Genotype In Mps Iii-B Patients, Seda Gökkurt, İrem Peker Eyüboğlu, Banu Nur Güzel, Ercan Mihçi, Ayşe Özer, Mustafa Akki̇pri̇k Feb 2025

Association Of Certain Biochemical Parameters Related To Bone Cycle With Genotype In Mps Iii-B Patients, Seda Gökkurt, İrem Peker Eyüboğlu, Banu Nur Güzel, Ercan Mihçi, Ayşe Özer, Mustafa Akki̇pri̇k

Turkish Journal of Medical Sciences

Background/aim: The aim of this study is to investigate the genotype-phenotype correlation in Sanfilippo type B patients in terms of bone formation/resorption parameters, and to determine the release/inhibition of biomarkers accompanying osteoporosis.Materials and Methods: Plasma levels of Osteoprotegerin, Matrix metalloproteinases (MMP2, MMP9), TIMP-1, TIMP-2, BALP, Cathepsin K, and TRACP-5b were examined by ELISA method in MPS IIIB patients. At the same time, mutations in the NAGLU gene causing this disease were detected by whole exome sequencing, and their correlation with biochemical parameters was investigated.Results: Based on the enzyme analysis results, MMP-9, TIMP1, TIMP-2, and MMP-2 were significantly high, while Cathepsin-K …


Ascorbic Acid Exhibits More Of A Protective Effect Than Estradiol Against Nephrotoxicity Induced By Malathion In Rats: A Histopathological And Molecular Docking Study, Mohammad Alhilal, Mahmoud Salem, Ahmed Albakoush, Suzan Alhilal, Basant Farag, Sobhi M. Gomha Feb 2025

Ascorbic Acid Exhibits More Of A Protective Effect Than Estradiol Against Nephrotoxicity Induced By Malathion In Rats: A Histopathological And Molecular Docking Study, Mohammad Alhilal, Mahmoud Salem, Ahmed Albakoush, Suzan Alhilal, Basant Farag, Sobhi M. Gomha

Turkish Journal of Medical Sciences

Background/Aim: Despite the known harmful effects associated with malathion toxicity in various organs, it continues to be widely used for plant protection and insect control. This study is the first to compare the protective effects of estradiol and ascorbic acid against malathion-induced nephrotoxicity through histopathological assessment and molecular docking analyses.

Materials and Methods: This study was conducted using 20 female albino rats that were distributed into sham, malathion, malathion + estradiol, and malathion + ascorbic acid groups. Nephrotoxicity was induced by daily treatment with malathion, and the effects of estradiol and ascorbic acid on nephrotoxicity were evaluated. After 4 weeks …


A Comparison Study Of Sensory Processing In Older Adults With And Without Dementia, Medi̇ne Nur Özata Değerli̇, Di̇dem Karaduman, Burcu Balam Doğu, Onur Altuntaş Feb 2025

A Comparison Study Of Sensory Processing In Older Adults With And Without Dementia, Medi̇ne Nur Özata Değerli̇, Di̇dem Karaduman, Burcu Balam Doğu, Onur Altuntaş

Turkish Journal of Medical Sciences

Background/aim: Sensory processing is affected by aging, and dementia may lead to changes in sensory processing. This study aimed to examine the differences in sensory processing and sensory modulation between older adults with and without dementia.Materials and methods: This study was designed as a comparative study of community-dwelling older adults aged 65 years and older with and without dementia. Participants and their caregivers were recruited at the occupational therapy clinic of a public hospital. They completed a sociodemographic information form and the Adolescent/Adult Sensory Profile to assess sensory processing and sensory modulation.Results: The study included 120 older adults (60 with …


Nanrilkefusp Alfa (Sot101), An Il-15 Receptor Βγ Superagonist, As A Single Agent Or With Anti-Pd-1 In Patients With Advanced Cancers, Stephane Champiat, Elena Garralda, Vladimir Galvao, Philippe A Cassier, Carlos Gomez-Roca, Iphigenie Korakis, Peter Grell, Aung Naing, Patricia Lorusso, Romana Mikyskova, Nada Podzimkova, Milan Reinis, Kaissa Ouali, Andreu Schoenenberger, Joachim Kiemle-Kallee, Sascha Tillmanns, Richard Sachse, Ulrich Moebius, Radek Spisek, David Bechard, Lenka Palova Jelinkova, Irena Adkins, Aurelien Marabelle Feb 2025

Nanrilkefusp Alfa (Sot101), An Il-15 Receptor Βγ Superagonist, As A Single Agent Or With Anti-Pd-1 In Patients With Advanced Cancers, Stephane Champiat, Elena Garralda, Vladimir Galvao, Philippe A Cassier, Carlos Gomez-Roca, Iphigenie Korakis, Peter Grell, Aung Naing, Patricia Lorusso, Romana Mikyskova, Nada Podzimkova, Milan Reinis, Kaissa Ouali, Andreu Schoenenberger, Joachim Kiemle-Kallee, Sascha Tillmanns, Richard Sachse, Ulrich Moebius, Radek Spisek, David Bechard, Lenka Palova Jelinkova, Irena Adkins, Aurelien Marabelle

Faculty, Staff and Student Publications

Nanrilkefusp alfa (nanril; SOT101) is an interleukin (IL)-15 receptor βγ superagonist that stimulates natural killer (NK) and CD8


Single-Cell Analysis Of Neoplastic Plasma Cells Identifies Myeloma Pathobiology Mediators And Potential Targets, Luz Yurany Moreno Rueda, Hua Wang, Keiko Akagi, Minghao Dang, Amishi Vora, Li Qin, Hans C Lee, Krina K Patel, Pei Lin, David E Mery, Fenghuang Zhan, John D Shaughnessy, Qing Yi, Yang Song, Bo Jiang, Maura L Gillison, Sheeba K Thomas, Donna M Weber, Lixia Diao, Jing Wang, Isere Kuiatse, Elisabet E Manasanch, David E Symer, Robert Z Orlowski Feb 2025

Single-Cell Analysis Of Neoplastic Plasma Cells Identifies Myeloma Pathobiology Mediators And Potential Targets, Luz Yurany Moreno Rueda, Hua Wang, Keiko Akagi, Minghao Dang, Amishi Vora, Li Qin, Hans C Lee, Krina K Patel, Pei Lin, David E Mery, Fenghuang Zhan, John D Shaughnessy, Qing Yi, Yang Song, Bo Jiang, Maura L Gillison, Sheeba K Thomas, Donna M Weber, Lixia Diao, Jing Wang, Isere Kuiatse, Elisabet E Manasanch, David E Symer, Robert Z Orlowski

Faculty, Staff and Student Publications

Multiple myeloma is a clonal plasma cell (PC) dyscrasia that arises from precursors and has been studied utilizing approaches focused on CD138+ cells. By combining single-cell RNA sequencing (scRNA-seq) with scB-cell receptor sequencing (scBCR-seq), we differentiate monoclonal/neoplastic from polyclonal/normal PCs and find more dysregulated genes, especially in precursor patients, than we would have by analyzing bulk PCs. To determine whether this approach can identify oncogenes that contribute to disease pathobiology, mitotic arrest deficient-2 like-1 (MAD2L1) and S-adenosylmethionine synthase isoform type-2 (MAT2A) are validated as targets with drug-like molecules that suppress myeloma growth in preclinical models. Moreover, functional studies show a …


An Integrative Multiparametric Approach Stratifies Putative Distinct Phenotypes Of Blast Phase Chronic Myelomonocytic Leukemia, Kristian Gurashi, Yu-Hung Wang, Fabio M R Amaral, Katherine Spence, Rachel Cant, Chi-Yuan Yao, Chien-Chin Lin, Christopher Wirth, David C Wedge, Guillermo Montalban-Bravo, Simona Colla, Hwei-Fang Tien, Tim C P Somervaille, Kiran Batta, Daniel H Wiseman Feb 2025

An Integrative Multiparametric Approach Stratifies Putative Distinct Phenotypes Of Blast Phase Chronic Myelomonocytic Leukemia, Kristian Gurashi, Yu-Hung Wang, Fabio M R Amaral, Katherine Spence, Rachel Cant, Chi-Yuan Yao, Chien-Chin Lin, Christopher Wirth, David C Wedge, Guillermo Montalban-Bravo, Simona Colla, Hwei-Fang Tien, Tim C P Somervaille, Kiran Batta, Daniel H Wiseman

Faculty, Staff and Student Publications

Approximately 30% of patients with chronic myelomonocytic leukemia (CMML) undergo transformation to a chemo-refractory blastic phase (BP-CMML). Seeking novel therapeutic approaches, we profiled blast transcriptomes from 42 BP-CMMLs, observing extensive transcriptional heterogeneity and poor alignment to current acute myeloid leukemia (AML) classifications. BP-CMMLs display distinctive transcriptomic profiles, including enrichment for quiescence and variability in drug response signatures. Integrating clinical, immunophenotype, and transcriptome parameters, Random Forest unsupervised clustering distinguishes immature and mature subtypes characterized by differential expression of transcriptional modules, oncogenes, apoptotic regulators, and patterns of surface marker expression. Subtypes differ in predicted response to AML drugs, validated ex vivo in …


Mitochondrial Defects And Metabolic Vulnerabilities In Lynch Syndrome-Associated Msh2-Deficient Endometrial Cancer, Mikayla Borthwick Bowen, Brenda Melendez, Qian Zhang, Diana Moreno, Leah Peralta, Wai Kin Chan, Collene Jeter, Lin Tan, M Anna Zal, Philip L Lorenzi, Kenneth Dunner, Richard K Yang, Russell R Broaddus, Joseph Celestino, Nisha Gokul, Elizabeth Whitley, Deena M Scoville, Tae Hoon Kim, Jae-Wook Jeong, Rosemarie Schmandt, Karen Lu, Hyun-Eui Kim, Melinda S Yates Feb 2025

Mitochondrial Defects And Metabolic Vulnerabilities In Lynch Syndrome-Associated Msh2-Deficient Endometrial Cancer, Mikayla Borthwick Bowen, Brenda Melendez, Qian Zhang, Diana Moreno, Leah Peralta, Wai Kin Chan, Collene Jeter, Lin Tan, M Anna Zal, Philip L Lorenzi, Kenneth Dunner, Richard K Yang, Russell R Broaddus, Joseph Celestino, Nisha Gokul, Elizabeth Whitley, Deena M Scoville, Tae Hoon Kim, Jae-Wook Jeong, Rosemarie Schmandt, Karen Lu, Hyun-Eui Kim, Melinda S Yates

Faculty, Staff and Student Publications

Lynch syndrome (LS), caused by inherited mutations in DNA mismatch repair genes, including MSH2, carries a 60% lifetime risk of developing endometrial cancer (EC). Beyond hypermutability, mechanisms driving LS-associated EC (LS-EC) remain unclear. We investigated MSH2 loss in EC pathogenesis using a mouse model (PR-Cre Msh2LoxP/LoxP, abbreviated Msh2KO), primary cell lines, human tissues, and human EC cells with isogenic MSH2 knockdown. By 8 months, 58% of Msh2KO mice developed endometrial atypical hyperplasia (AH), a precancerous lesion. At 12-16 months, 50% of Msh2KO mice exhibited either AH or ECs with histologic similarities to human LS-ECs. Transcriptomic profiling of EC from Msh2KO …


Natural And Bioengineered Extracellular Vesicles In Diagnosis, Monitoring And Treatment Of Cancer, Xin Luo, Kathleen M Mcandrews, Raghu Kalluri Feb 2025

Natural And Bioengineered Extracellular Vesicles In Diagnosis, Monitoring And Treatment Of Cancer, Xin Luo, Kathleen M Mcandrews, Raghu Kalluri

Faculty, Staff and Student Publications

Extracellular vesicles (EVs) are cell derived nanovesicles which are implicated in both physiological and pathological intercellular communication, including the initiation, progression, and metastasis of cancer. The exchange of biomolecules between stromal cells and cancer cells via EVs can provide a window to monitor cancer development in real time for better diagnostic and interventional strategies. In addition, the process of secretion and internalization of EVs by stromal and cancer cells in the tumor microenvironment (TME) can be exploited for delivering therapeutics. EVs have the potential to provide a targeted, biocompatible, and efficient delivery platform for the treatment of cancer and other …


Effects Of Vitamin D Replacement Combined With Graves’ Disease Therapy: A Retrospective Cohort Study, Beyza Taşkent Sezgi̇n, Muhammed Kizilgül, Özgür Özçeli̇k, Taner Demi̇rci̇, Hayri̇ Bostan, Ümran Gül, Beki̇r Uçan Feb 2025

Effects Of Vitamin D Replacement Combined With Graves’ Disease Therapy: A Retrospective Cohort Study, Beyza Taşkent Sezgi̇n, Muhammed Kizilgül, Özgür Özçeli̇k, Taner Demi̇rci̇, Hayri̇ Bostan, Ümran Gül, Beki̇r Uçan

Turkish Journal of Medical Sciences

Background/aim: In Graves’ disease (GD), an autoimmune disease, antibodies targeting the TSH receptor cause the production of excessive amounts of thyroid hormone. A significant association has been reported between low 25(OH) Vitamin D3 (VitD) levels and various autoimmune disorders. Therefore, this study aimed to investigate the effects of VitD deficiency and replacement therapy on laboratory and clinical parameters in GD patients.Methods:Fourty GD and 37 healthy control patients were included in this study. Patients with GD were divided into two groups, and the first group was given only antithyroid treatment (n:18), and the second group was given antithyroid treatment plus VitD …


Does Cd47 Expression Have Prognostic Significance In Classical Hodgkin Lymphoma?, Aydan Kiliçarslan, Gülnaz Kurt Çevi̇k, Mehmet Doğan, Ayşegül Aksoy Altinboğa, Funda Ceran, Şule Mi̇ne Bakanay Öztürk, Gülşah Efeci̇k Feb 2025

Does Cd47 Expression Have Prognostic Significance In Classical Hodgkin Lymphoma?, Aydan Kiliçarslan, Gülnaz Kurt Çevi̇k, Mehmet Doğan, Ayşegül Aksoy Altinboğa, Funda Ceran, Şule Mi̇ne Bakanay Öztürk, Gülşah Efeci̇k

Turkish Journal of Medical Sciences

Background/aimHodgkin Lymphoma (HL) is highly treatable, but new chemotherapy agents are needed for patients with progression or recurrence. CD47 regulates anti-phagocytic activity by signaling through the SIRPα (signal regulatory protein alpha) pathway on macrophages. This study aims to assess the expression of CD47 in HL cases and explore its relationship with Epstein-Barr Virus (EBV) status and the International Prognostic Index (IPI).Materials and Methods120 patients diagnosed with Classical HL, characterized by the presence of Hodgkin and Reed-Sternberg (HRS) cells, for whom IPI scores were available. Demographic data and EBV status were retrieved from hospital records. CD47 immunohistochemical expression in HRS cells …


Relationship Between Uncoupling Protein 1 (Ucp1) Levels And Psoriasis, Fi̇kret Akyurek, Fatma Tuncez Akyurek, Fatma Sengul Feb 2025

Relationship Between Uncoupling Protein 1 (Ucp1) Levels And Psoriasis, Fi̇kret Akyurek, Fatma Tuncez Akyurek, Fatma Sengul

Turkish Journal of Medical Sciences

Background/aim: Psoriasis is an autoimmune, chronic and common skin disease. Comorbidities also increase the mortality risk of the disease. The aim of this study is to investigate the changes in UCP1 levels in psoriasis patients and to evaluate their possible role in the pathogenesis of the disease, focusing on disease severity (Psoriasis Area and Severity Index), dyslipidemia, inflammation and cardiovascular risk.Materials and methods: This study included 30 psoriasis patients and 30 healthy individuals as a control group. Serum UCP1 was measured using an ELISA test kit. The laboratory results of psoriasis patients and healthy controls were compared.Results: UCP1 level was …


Metabolic Effects Of Testosterone Added To Intensive Lifestyle Intervention In Older Men With Obesity And Hypogonadism, Adrian M Gonzalez-Gil, Yoann Barnouin, Alessandra Celli, Viola Viola, Marcos D Villarreal, Maria Liza Duremdes Nava, Adam Sciuk, Clifford Qualls, Reina Armamento-Villareal, Dennis T Villareal Feb 2025

Metabolic Effects Of Testosterone Added To Intensive Lifestyle Intervention In Older Men With Obesity And Hypogonadism, Adrian M Gonzalez-Gil, Yoann Barnouin, Alessandra Celli, Viola Viola, Marcos D Villarreal, Maria Liza Duremdes Nava, Adam Sciuk, Clifford Qualls, Reina Armamento-Villareal, Dennis T Villareal

Faculty, Staff and Students Publications

Background: Whether testosterone replacement therapy (TRT) conveys additional cardiometabolic benefit to an intensive lifestyle therapy (LT) in older men with obesity and hypogonadism remains unclear.

Objective: To determine whether TRT augments the effect of LT on metabolic outcomes in older men with obesity and hypogonadism.

Design: Secondary analysis of a randomized, double-blind, placebo-controlled trial.

Setting: Veterans Affairs Medical Center.

Participants: Eighty-three older (age ≥ 65 years) men with obesity (body mass index ≥ 30 kg/m2) and persistently low Am testosterone (< 10.4 nmol/L) associated with frailty.

Interventions: LT (weight management and exercise training) plus either testosterone (LT + TRT) or placebo (LT + Pbo) for …


Unveiling The Genetic Landscape Of Coronary Artery Disease Through Common And Rare Structural Variants, Kruthika R Iyer, Shoa L Clarke, Rodrigo Guarischi-Sousa, Ketrin Gjoni, Adam S Heath, Erica P Young, Nathan O Stitziel, Cecelia Laurie, Jai G Broome, Alyna T Khan, Joshua P Lewis, Huichun Xu, May E Montasser, Kellan E Ashley, Natalie R Hasbani, Eric Boerwinkle, Alanna C Morrison, Nathalie Chami, Ron Do, Ghislain Rocheleau, Donald M Lloyd-Jones, Rozenn N Lemaitre, Joshua C Bis, James S Floyd, Gregory L Kinney, Donald W Bowden, Nicholette D Palmer, Emelia J Benjamin, Matthew Nayor, Lisa R Yanek, Brian G Kral, Lewis C Becker, Sharon L R Kardia, Jennifer A Smith, Lawrence F Bielak, Arnita F Norwood, Yuan-I Min, April P Carson, Wendy S Post, Stephen S Rich, David Herrington, Xiuqing Guo, Kent D Taylor, Joann E Manson, Nora Franceschini, Katherine S Pollard, Braxton D Mitchell, Ruth J F Loos, Myriam Fornage, Lifang Hou, Bruce M Psaty, Kendra A Young, Elizabeth A Regan, Barry I Freedman, Ramachandran S Vasan, Daniel Levy, Rasika A Mathias, Patricia A Peyser, Laura M Raffield, Charles Kooperberg, Alex P Reiner, Jerome I Rotter, Goo Jun, Paul S De Vries, Themistocles L Assimes Feb 2025

Unveiling The Genetic Landscape Of Coronary Artery Disease Through Common And Rare Structural Variants, Kruthika R Iyer, Shoa L Clarke, Rodrigo Guarischi-Sousa, Ketrin Gjoni, Adam S Heath, Erica P Young, Nathan O Stitziel, Cecelia Laurie, Jai G Broome, Alyna T Khan, Joshua P Lewis, Huichun Xu, May E Montasser, Kellan E Ashley, Natalie R Hasbani, Eric Boerwinkle, Alanna C Morrison, Nathalie Chami, Ron Do, Ghislain Rocheleau, Donald M Lloyd-Jones, Rozenn N Lemaitre, Joshua C Bis, James S Floyd, Gregory L Kinney, Donald W Bowden, Nicholette D Palmer, Emelia J Benjamin, Matthew Nayor, Lisa R Yanek, Brian G Kral, Lewis C Becker, Sharon L R Kardia, Jennifer A Smith, Lawrence F Bielak, Arnita F Norwood, Yuan-I Min, April P Carson, Wendy S Post, Stephen S Rich, David Herrington, Xiuqing Guo, Kent D Taylor, Joann E Manson, Nora Franceschini, Katherine S Pollard, Braxton D Mitchell, Ruth J F Loos, Myriam Fornage, Lifang Hou, Bruce M Psaty, Kendra A Young, Elizabeth A Regan, Barry I Freedman, Ramachandran S Vasan, Daniel Levy, Rasika A Mathias, Patricia A Peyser, Laura M Raffield, Charles Kooperberg, Alex P Reiner, Jerome I Rotter, Goo Jun, Paul S De Vries, Themistocles L Assimes

Faculty, Staff and Student Publications

Background: Genome-wide association studies have identified several hundred susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single nucleotide variant-based genome-wide association studies improving our understanding of the genetics of CAD, the contribution of structural variants (SVs) to the risk of CAD remains largely unclear.

Method and results: We leveraged SVs detected from high-coverage whole genome sequencing data in a diverse group of participants from the National Heart Lung and Blood Institute's Trans-Omics for Precision Medicine program. Single variant tests were performed on 58 706 SVs in a study sample of 11 556 CAD cases and 42 907 controls. …


Machine Learning-Enhanced Surface-Enhanced Spectroscopic Detection Of Polycyclic Aromatic Hydrocarbons In The Human Placenta, Oara Neumann, Yilong Ju, Andres B Sanchez-Alvarado, Guodong Zhou, Weiwu Jiang, Bhagavatula Moorthy, Melissa A Suter, Ankit Patel, Peter Nordlander, Naomi J Halas Feb 2025

Machine Learning-Enhanced Surface-Enhanced Spectroscopic Detection Of Polycyclic Aromatic Hydrocarbons In The Human Placenta, Oara Neumann, Yilong Ju, Andres B Sanchez-Alvarado, Guodong Zhou, Weiwu Jiang, Bhagavatula Moorthy, Melissa A Suter, Ankit Patel, Peter Nordlander, Naomi J Halas

Faculty, Staff and Students Publications

The detection and identification of polycyclic aromatic hydrocarbons (PAHs) and their derivatives, polycyclic aromatic compounds (PACs), are essential for environmental and health monitoring, for assessing toxicological exposure and their associated health risks. PAHs/PACs are the most dangerous chemicals found in tobacco smoke, and cigarette use during pregnancy can convey these molecules to the developing fetus through the placenta. This exposure is associated with many negative health outcomes, from premature birth to sudden infant death syndrome and adverse neurodevelopmental disorders. This study demonstrates the use of surface-enhanced Raman and surface-enhanced infrared absorption spectroscopies for direct detection of PAHs/PACs in human placental …