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Targeting Cyp51 In The Treatment Of Acanthamoeba Keratitis, Ashkan Hassani, Vineet Sadarangani, Brad Haubrich 2024 Touro University Nevada

Targeting Cyp51 In The Treatment Of Acanthamoeba Keratitis, Ashkan Hassani, Vineet Sadarangani, Brad Haubrich

Annual Research Symposium

Acanthamoeba castellanii causes a rare but serious ocular infection called Acanthamoeba keratitis. Risk factors for infection include contact with contaminated water and poor hygiene of contact lenses. The first-line treatment is comprised of a months-long schedule of antibiotics. However, in cases where pharmacological interventions fail to address the infection, surgery may be necessary, with the continued risk of potential vision loss. Consequently, new treatments are needed, whether new pharmacological agents or new combination therapies with current agents. As an aerobic parasite, Acanthamoeba synthesizes ergosterol as a cell membrane insert, and ergosterol biosynthesis inhibitors (EBIs), common in antifungal pharmaceuticals, could potentially …


Efficacy And Safety Of Artificial Tears Containing Lipidure And Hypromellose For The Treatment Of Moderate Dry Eye Disease In Contact Lens Wearers, Caterina Gagliano, Marco Zeppieri, Antonio Longo, Giovanni Rubegni, Roberta Amato, Roberta Foti, Francesco Cappellani, Massimiliano Cocuzza, Federico Visalli, Ludovica Cannizzaro, Alessandro Avitabile, Giuseppe Gagliano, Lucia Lapenna, Fabiana D'Esposito 2024 Thomas Jefferson University

Efficacy And Safety Of Artificial Tears Containing Lipidure And Hypromellose For The Treatment Of Moderate Dry Eye Disease In Contact Lens Wearers, Caterina Gagliano, Marco Zeppieri, Antonio Longo, Giovanni Rubegni, Roberta Amato, Roberta Foti, Francesco Cappellani, Massimiliano Cocuzza, Federico Visalli, Ludovica Cannizzaro, Alessandro Avitabile, Giuseppe Gagliano, Lucia Lapenna, Fabiana D'Esposito

Wills Eye Hospital Papers

Background and Objectives: Dry eye disease (DED) affects 5–50% of the global population and deeply influences everyday life activities. This study compared the efficacy, tolerability, and safety of novel Respilac artificial tears containing lipidure and hypromellose (HPMC) with the widely used Nextal artificial tears, which are also HPMC-based, for the treatment of moderate DED in contact lenses (CL) wearers.

Materials and Methods: In a prospective, single-center, randomized investigation, 30 patients aged ≥18 years, diagnosed with moderate DED, and wearing CL were randomly assigned to the Respilac (n = 15) or Nextal group (n = 15). Patients self-administrated one drop of …


A Comparative Study Of Responses To Retina Questions From Either Experts, Expert-Edited Large Language Models, Or Expert-Edited Large Language Models Alone, Prashant D. Tailor, Lauren A. Dalvin, John J. Chen, Raymond Iezzi, Timothy W. Olsen, Brittni A. Scruggs, Andrew J. Barkmeier, Sophie J. Bakri, Edwin H. Ryan, Peter H. Tang, D. Wilkin Parke, Peter Belin, Jayanth Sridhar, David Xu, Ajay E. Kuriyan, Yoshihiro Yonekawa, Matthew R. Starr 2024 Thomas Jefferson University

A Comparative Study Of Responses To Retina Questions From Either Experts, Expert-Edited Large Language Models, Or Expert-Edited Large Language Models Alone, Prashant D. Tailor, Lauren A. Dalvin, John J. Chen, Raymond Iezzi, Timothy W. Olsen, Brittni A. Scruggs, Andrew J. Barkmeier, Sophie J. Bakri, Edwin H. Ryan, Peter H. Tang, D. Wilkin Parke, Peter Belin, Jayanth Sridhar, David Xu, Ajay E. Kuriyan, Yoshihiro Yonekawa, Matthew R. Starr

Wills Eye Hospital Papers

OBJECTIVE: To assess the quality, empathy, and safety of expert edited large language model (LLM), human expert created, and LLM responses to common retina patient questions.

DESIGN: Randomized, masked multicenter study.

PARTICIPANTS: Twenty-one common retina patient questions were randomly assigned among 13 retina specialists.

METHODS: Each expert created a response (Expert) and then edited a LLM (ChatGPT-4)-generated response to that question (Expert + artificial intelligence [AI]), timing themselves for both tasks. Five LLMs (ChatGPT-3.5, ChatGPT-4, Claude 2, Bing, and Bard) also generated responses to each question. The original question along with anonymized and randomized Expert + AI, Expert, and LLM …


Effect Of Suprachoroidal Triamcinolone On Intraocular Pressure: A Systematic Review And Meta-Analysis, Altamash Shahriyar Ghazanfar, Aly Hamza Khowaja, Haroon Tayyab 2024 Aga Khan University

Effect Of Suprachoroidal Triamcinolone On Intraocular Pressure: A Systematic Review And Meta-Analysis, Altamash Shahriyar Ghazanfar, Aly Hamza Khowaja, Haroon Tayyab

Department of Ophthalmology & Visual Sciences

Background: Triamcinolone acetonide is a synthetic corticosteroid with multiple ocular uses. Like other corticosteroids, it too is associated with ocular side effects such as increased intraocular pressure (IOP), glaucoma and cataracts. Suprachoroidal administration of triamcinolone is hoped to reduce the ocular side effects of the drug, especially rises in IOP. Our systematic review and meta-analysis aims to study this phenomenon.
Objectives: The purpose of this study was to evaluate the effect of suprachoroidal triamcinolone injections on IOP.
Design: Systematic review and meta-analysis.
Methods: We utilized the Medline, Scopus and Cochrane databases for this review. Studies published till June 2023, which …


Ectoine, From A Natural Bacteria Protectant To A New Treatment Of Dry Eye Disease, Xin Chen, Na Lin, Jin-Miao Li, Haixia Liu, Anmar Abu-Romman, Ebru Yaman, Fang Bian, Cintia S de Paiva, Stephen C Pflugfelder, De-Quan Li 2024 The Texas Medical Center Library

Ectoine, From A Natural Bacteria Protectant To A New Treatment Of Dry Eye Disease, Xin Chen, Na Lin, Jin-Miao Li, Haixia Liu, Anmar Abu-Romman, Ebru Yaman, Fang Bian, Cintia S De Paiva, Stephen C Pflugfelder, De-Quan Li

Faculty, Staff and Students Publications

Ectoine, a novel natural osmoprotectant, protects bacteria living in extreme environments. This study aimed to explore the therapeutic effect of ectoine for dry eye disease. An experimental dry eye model was created in C57BL/6 mice exposed to desiccating stress (DS) with untreated mice as controls (UT). DS mice were dosed topically with 0.5-2.0% of ectoine or a vehicle control. Corneal epithelial defects were detected via corneal smoothness and Oregon Green dextran (OGD) fluorescent staining. Pro-inflammatory cytokines and chemokines were evaluated using RT-qPCR and immunofluorescent staining. Compared with UT mice, corneal epithelial defects were observed as corneal smoothness irregularities and strong …


Phenotypic Features Determining Visual Acuity In Albinism And The Role Of Amblyogenic Factors., Frank A Proudlock, Rebecca J McLean, Viral Sheth, Sarim Ather, Irene Gottlob 2024 Rowan University

Phenotypic Features Determining Visual Acuity In Albinism And The Role Of Amblyogenic Factors., Frank A Proudlock, Rebecca J Mclean, Viral Sheth, Sarim Ather, Irene Gottlob

Cooper Medical School of Rowan University Departmental Research

Albinism is a spectrum disorder causing foveal hypoplasia, nystagmus, and hypopigmentation of the iris and fundus along with other visual deficits, which can all impact vision. Albinism is also associated with amblyogenic factors which could affect monocular visual acuity. The foveal appearance in albinism can range from mild foveal hypoplasia to that which is indistinguishable from the peripheral retina. The appearance can be quickly and easily graded using the Leicester Grading System in the clinic. However, interquartile ranges of 0.3 logMAR for the grades associated with albinism limit the accuracy of the grading system in predicting vision. Here, we discuss …


Visual Field Deficits In Albinism In Comparison To Idiopathic Infantile Nystagmus., Viral Sheth, Rebecca J McLean, Zhanhan Tu, Sarim Ather, Irene Gottlob, Frank A Proudlock 2024 Rowan University

Visual Field Deficits In Albinism In Comparison To Idiopathic Infantile Nystagmus., Viral Sheth, Rebecca J Mclean, Zhanhan Tu, Sarim Ather, Irene Gottlob, Frank A Proudlock

Cooper Medical School of Rowan University Departmental Research

PURPOSE: This is the first systematic comparison of visual field (VF) deficits in people with albinism (PwA) and idiopathic infantile nystagmus (PwIIN) using static perimetry. We also compare best-corrected visual acuity (BCVA) and optical coherence tomography measures of the fovea, parafovea, and circumpapillary retinal nerve fiber layer in PwA.

METHODS: VF testing was performed on 62 PwA and 36 PwIIN using a Humphrey Field Analyzer (SITA FAST 24-2). Mean detection thresholds for each eye were calculated, along with quadrants and central measures. Retinal layers were manually segmented in the macular region.

RESULTS: Mean detection thresholds were significantly lower than normative …


Examining The Association Between Posttraumatic Stress Disorder And Disruptions In Cortical Networks Identified Using Data-Driven Methods, Jin Yang, Ashley A Huggins, Delin Sun, C Lexi Baird, Courtney C Haswell, Jessie L Frijling, Miranda Olff, Mirjam van Zuiden, Saskia B J Koch, Laura Nawijn, Dick J Veltman, Benjamin Suarez-Jimenez, Xi Zhu, Yuval Neria, Anna R Hudson, Sven C Mueller, Justin T Baker, Lauren A M Lebois, Milissa L Kaufman, Rongfeng Qi, Guang Ming Lu, Pavel Říha, Ivan Rektor, Emily L Dennis, Christopher R K Ching, Sophia I Thomopoulos, Lauren E Salminen, Neda Jahanshad, Paul M Thompson, Dan J Stein, Sheri M Koopowitz, Jonathan C Ipser, Soraya Seedat, Stefan du Plessis, Leigh L van den Heuvel, Li Wang, Ye Zhu, Gen Li, Anika Sierk, Antje Manthey, Henrik Walter, Judith K Daniels, Christian Schmahl, Julia I Herzog, Israel Liberzon, Anthony King, Mike Angstadt, Nicholas D Davenport, Scott R Sponheim, Seth G Disner, Thomas Straube, David Hofmann, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine L Larson, Terri A deRoon-Cassini, Jennifer U Blackford, Bunmi O Olatunji, Evan M Gordon, Geoffrey May, Steven M Nelson, Chadi G Abdallah, Ifat Levy, Ilan Harpaz-Rotem, John H Krystal, Rajendra A Morey, Aristeidis Sotiras 2024 The Texas Medical Center Library

Examining The Association Between Posttraumatic Stress Disorder And Disruptions In Cortical Networks Identified Using Data-Driven Methods, Jin Yang, Ashley A Huggins, Delin Sun, C Lexi Baird, Courtney C Haswell, Jessie L Frijling, Miranda Olff, Mirjam Van Zuiden, Saskia B J Koch, Laura Nawijn, Dick J Veltman, Benjamin Suarez-Jimenez, Xi Zhu, Yuval Neria, Anna R Hudson, Sven C Mueller, Justin T Baker, Lauren A M Lebois, Milissa L Kaufman, Rongfeng Qi, Guang Ming Lu, Pavel Říha, Ivan Rektor, Emily L Dennis, Christopher R K Ching, Sophia I Thomopoulos, Lauren E Salminen, Neda Jahanshad, Paul M Thompson, Dan J Stein, Sheri M Koopowitz, Jonathan C Ipser, Soraya Seedat, Stefan Du Plessis, Leigh L Van Den Heuvel, Li Wang, Ye Zhu, Gen Li, Anika Sierk, Antje Manthey, Henrik Walter, Judith K Daniels, Christian Schmahl, Julia I Herzog, Israel Liberzon, Anthony King, Mike Angstadt, Nicholas D Davenport, Scott R Sponheim, Seth G Disner, Thomas Straube, David Hofmann, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine L Larson, Terri A Deroon-Cassini, Jennifer U Blackford, Bunmi O Olatunji, Evan M Gordon, Geoffrey May, Steven M Nelson, Chadi G Abdallah, Ifat Levy, Ilan Harpaz-Rotem, John H Krystal, Rajendra A Morey, Aristeidis Sotiras

Faculty, Staff and Students Publications

Posttraumatic stress disorder (PTSD) is associated with lower cortical thickness (CT) in prefrontal, cingulate, and insular cortices in diverse trauma-affected samples. However, some studies have failed to detect differences between PTSD patients and healthy controls or reported that PTSD is associated with greater CT. Using data-driven dimensionality reduction, we sought to conduct a well-powered study to identify vulnerable networks without regard to neuroanatomic boundaries. Moreover, this approach enabled us to avoid the excessive burden of multiple comparison correction that plagues vertex-wise methods. We derived structural covariance networks (SCNs) by applying non-negative matrix factorization (NMF) to CT data from 961 PTSD …


Biallelic Creld1 Variants Cause A Multisystem Syndrome, Including Neurodevelopmental Phenotypes, Cardiac Dysrhythmias, And Frequent Infections, Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S Morrow, Armine Darbinyan, Krishna Iyer, Ritu B Aul, Siddharth Banka, Katherine R Chao, Laura Cobbold, Stacey Cohen, Helena M Custodio, Margaret Drummond-Borg, Frances Elmslie, Erika Finanger, Bryan E Hainline, Ingo Helbig, Stacy Hewson, Ying Hu, Adam Jackson, Dragana Josifova, Monica Konstantino, Meganne E Leach, Bryan Mak, David McCormick, Elisabeth McGee, Stanley Nelson, Joanne Nguyen, Kimberly Nugent, Lucy Ortega, Howard P Goodkin, Elizabeth Roeder, Sani Roy, Katie Sapp, Dimah Saade, Sanjay M Sisodiya, Karen Stals, Shelley Towner, William Wilson, Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Mustafa K Khokha, Carsten G Bönnemann, Carrie L Lucas, Saquib A Lakhani 2024 The Texas Medical Center Library

Biallelic Creld1 Variants Cause A Multisystem Syndrome, Including Neurodevelopmental Phenotypes, Cardiac Dysrhythmias, And Frequent Infections, Lauren Jeffries, Emily K Mis, Kirsty Mcwalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S Morrow, Armine Darbinyan, Krishna Iyer, Ritu B Aul, Siddharth Banka, Katherine R Chao, Laura Cobbold, Stacey Cohen, Helena M Custodio, Margaret Drummond-Borg, Frances Elmslie, Erika Finanger, Bryan E Hainline, Ingo Helbig, Stacy Hewson, Ying Hu, Adam Jackson, Dragana Josifova, Monica Konstantino, Meganne E Leach, Bryan Mak, David Mccormick, Elisabeth Mcgee, Stanley Nelson, Joanne Nguyen, Kimberly Nugent, Lucy Ortega, Howard P Goodkin, Elizabeth Roeder, Sani Roy, Katie Sapp, Dimah Saade, Sanjay M Sisodiya, Karen Stals, Shelley Towner, William Wilson, Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Mustafa K Khokha, Carsten G Bönnemann, Carrie L Lucas, Saquib A Lakhani

Faculty, Staff and Students Publications

PURPOSE: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants.

METHODS: The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.

RESULTS: Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. Most harbored a frameshift in trans with a missense …


Rates Of Reoperation In Duane Retraction Syndrome, Han Woong Lim, Bryce Hwang, Cyril Archambault, Scott Lambert 2024 Thomas Jefferson University

Rates Of Reoperation In Duane Retraction Syndrome, Han Woong Lim, Bryce Hwang, Cyril Archambault, Scott Lambert

Wills Eye Hospital Papers

PURPOSE: To investigate the types of strabismus surgeries performed and the reoperation rate in patients with Duane retraction syndrome (DRS).

DESIGN: Retrospective cohort analysis.

PARTICIPANTS: An insurance claims data set was used to identify patients diagnosed with DRS between 2007 and 2021.

METHODS: We recorded the type of strabismus surgery performed and the timing and frequency of reoperations. The hazard ratios (HRs) for reoperation were estimated according to the surgical methods using Cox regression analysis.

RESULTS: Of the 9435 patients diagnosed with DRS, 1023 (10.8%) underwent ≥ 1 strabismus operation. The median age at surgery was 5.0 years, and patients …


Long-Term Surgical Outcomes Of Glaucoma Drainage Implants In Eyes With Preoperative Intraocular Pressure Less Than 19 Mmhg, Shahin Hallaj, Jae-Chiang Wong, Lauren E. Hock, Natasha Nayak Kolomeyer, Aakriti G. Shukla, Michael J. Pro, Marlene R. Moster, Jonathan S. Myers, Reza Razeghinejad, Daniel Lee 2024 Thomas Jefferson University

Long-Term Surgical Outcomes Of Glaucoma Drainage Implants In Eyes With Preoperative Intraocular Pressure Less Than 19 Mmhg, Shahin Hallaj, Jae-Chiang Wong, Lauren E. Hock, Natasha Nayak Kolomeyer, Aakriti G. Shukla, Michael J. Pro, Marlene R. Moster, Jonathan S. Myers, Reza Razeghinejad, Daniel Lee

Wills Eye Hospital Papers

BACKGROUND: This retrospective review reports on patients who underwent glaucoma drainage implant (GDI) surgery and had baseline intraocular pressure (IOP) of ≤18 mmHg with at least one year of follow-up.

METHODS: Clinical data of 67 eyes of 67 patients were collected from patients' charts, and the outcomes of GDI were evaluated until 7 years. GDI failure was defined as IOP reduction of less than 20% from the baseline at two consecutive visits three months after surgery, decline to no light perception, or if additional glaucoma surgery was performed.

RESULTS: The average age was 65.9 ± 13.2 years. Most cases were …


Performance Of Automated Machine Learning In Predicting Outcomes Of Pneumatic Retinopexy, Arina Nisanova, Arefeh Yavary, Jordan Deaner, Ferhina Ali, Priyanka Gogte, Richard Kaplan, Kevin Chen, Eric Nudleman, Dilraj Grewal, Meenakashi Gupta, Jeremy Wolfe, Michael Klufas, Glenn Yiu, Iman Soltani, Parisa Emami-Naeini 2024 Thomas Jefferson University

Performance Of Automated Machine Learning In Predicting Outcomes Of Pneumatic Retinopexy, Arina Nisanova, Arefeh Yavary, Jordan Deaner, Ferhina Ali, Priyanka Gogte, Richard Kaplan, Kevin Chen, Eric Nudleman, Dilraj Grewal, Meenakashi Gupta, Jeremy Wolfe, Michael Klufas, Glenn Yiu, Iman Soltani, Parisa Emami-Naeini

Wills Eye Hospital Papers

PURPOSE: Automated machine learning (AutoML) has emerged as a novel tool for medical professionals lacking coding experience, enabling them to develop predictive models for treatment outcomes. This study evaluated the performance of AutoML tools in developing models predicting the success of pneumatic retinopexy (PR) in treatment of rhegmatogenous retinal detachment (RRD). These models were then compared with custom models created by machine learning (ML) experts.

DESIGN: Retrospective multicenter study.

PARTICIPANTS: Five hundred and thirty nine consecutive patients with primary RRD that underwent PR by a vitreoretinal fellow at 6 training hospitals between 2002 and 2022.

METHODS: We used 2 AutoML …


Endophthalmitis In An Elderly Patient - A Case Of Delayed Transfer And Successful Management, Vamsikalayan Borra, Roy Kondapavuluru, Sreejith Pillali, Sabhi Gull, Andres Suarez Parraga 2024 Internal Medicine, Knapp Medical Center, The University of Texas Rio Grande Valley School of Medicine

Endophthalmitis In An Elderly Patient - A Case Of Delayed Transfer And Successful Management, Vamsikalayan Borra, Roy Kondapavuluru, Sreejith Pillali, Sabhi Gull, Andres Suarez Parraga

Research Symposium

Introduction: Endophthalmitis is a severe and potentially sight-threatening condition that demands immediate attention and intervention. It is characterized by inflammation and infection within the eye, typically caused by bacterial or fungal organisms entering the eye, often following surgery or trauma. Usually present with sudden, severe eye pain, redness, decreased vision, and photophobia. As endophthalmitis can rapidly progress and cause irreversible damage to the eye, it is considered a true ocular emergency.

Case presentation: An 80-year-old woman, known to have Insulin-dependent Type 2 Diabetes mellitus and a history of breast cancer, arrived at the Emergency Department (ED) with persistent and worsening …


Development Of A Novel Covalently Bonded Conjugate Of Caprylic Acid Tripeptide (Isoleucine–Leucine–Aspartic Acid) For Wound-Compatible And Injectable Hydrogel To Accelerate Healing, Sachin B. Baravkar, Yan Lu, Abdul Razak Masoud, Qi Zhao, Jibao He, Song Hong 2024 LSU Health Sciences Center - New Orleans

Development Of A Novel Covalently Bonded Conjugate Of Caprylic Acid Tripeptide (Isoleucine–Leucine–Aspartic Acid) For Wound-Compatible And Injectable Hydrogel To Accelerate Healing, Sachin B. Baravkar, Yan Lu, Abdul Razak Masoud, Qi Zhao, Jibao He, Song Hong

School of Medicine Faculty Publications

Third-degree burn injuries pose a significant health threat. Safer, easier-to-use, and more effective techniques are urgently needed for their treatment. We hypothesized that covalently bonded conjugates of fatty acids and tripeptides can form wound-compatible hydrogels that can accelerate healing. We first designed conjugated structures as fatty acid–aminoacid1–amonoacid2–aspartate amphiphiles (Cn acid–AA1–AA2–D), which were potentially capable of self-assembling into hydrogels according to the structure and properties of each moiety. We then generated 14 novel conjugates based on this design by using two Fmoc/tBu solid-phase peptide synthesis techniques; we verified their structures and purities through liquid chromatography with tandem mass spectrometry and nuclear …


Integrating Genetic Regulation And Single-Cell Expression With Gwas Prioritizes Causal Genes And Cell Types For Glaucoma, Andrew R Hamel, Wenjun Yan, John M Rouhana, Aboozar Monovarfeshani, Xinyi Jiang, Puja A Mehta, Jayshree Advani, Yuyang Luo, Qingnan Liang, Skanda Rajasundaram, Arushi Shrivastava, Katherine Duchinski, Sreekar Mantena, Jiali Wang, Tavé van Zyl, Louis R Pasquale, Anand Swaroop, Puya Gharahkhani, Anthony P Khawaja, Stuart MacGregor, Rui Chen, Veronique Vitart, Joshua R Sanes, Janey L Wiggs, Ayellet V Segrè 2024 The Texas Medical Center Library

Integrating Genetic Regulation And Single-Cell Expression With Gwas Prioritizes Causal Genes And Cell Types For Glaucoma, Andrew R Hamel, Wenjun Yan, John M Rouhana, Aboozar Monovarfeshani, Xinyi Jiang, Puja A Mehta, Jayshree Advani, Yuyang Luo, Qingnan Liang, Skanda Rajasundaram, Arushi Shrivastava, Katherine Duchinski, Sreekar Mantena, Jiali Wang, Tavé Van Zyl, Louis R Pasquale, Anand Swaroop, Puya Gharahkhani, Anthony P Khawaja, Stuart Macgregor, Rui Chen, Veronique Vitart, Joshua R Sanes, Janey L Wiggs, Ayellet V Segrè

Faculty, Staff and Students Publications

Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a leading cause of irreversible blindness worldwide. However, its molecular and cellular causes are not well understood. Elevated intraocular pressure (IOP) is a major risk factor, but many patients have normal IOP. Colocalization and Mendelian randomization analysis of >240 POAG and IOP genome-wide association study (GWAS) loci and overlapping expression and splicing quantitative trait loci (e/sQTLs) in 49 GTEx tissues and retina prioritizes causal genes for 60% of loci. These genes are enriched in pathways implicated in extracellular matrix organization, cell adhesion, and vascular development. Analysis of single-nucleus RNA-seq …


Psychological Distress And Social Support Among Community Paediatric Palliative Care Programme Caregivers: Longitudinal Analysis, Esther Chui Yan Wong, Phillip Lung Wai Au-Doung, Yvonne Yuen Ling Chu, Sandy Sin Yuet Wong, Chi Kong Li, Yin Ting Cheung 2024 The Texas Medical Center Library

Psychological Distress And Social Support Among Community Paediatric Palliative Care Programme Caregivers: Longitudinal Analysis, Esther Chui Yan Wong, Phillip Lung Wai Au-Doung, Yvonne Yuen Ling Chu, Sandy Sin Yuet Wong, Chi Kong Li, Yin Ting Cheung

Faculty, Staff and Students Publications

No abstract provided.


Biallelic Variants In Rbm42 Cause A Multisystem Disorder With Neurological, Facial, Cardiac, And Musculoskeletal Involvement, Yiyao Chen, Bingxin Yang, Xiaoyu Merlin Zhang, Songchang Chen, Minhui Wang, Liya Hu, Nina Pan, Shuyuan Li, Weihui Shi, Zhenhua Yang, Li Wang, Yajing Tan, Jian Wang, Yanlin Wang, Qinghe Xing, Zhonghua Ma, Jinsong Li, He-Feng Huang, Jinglan Zhang, Chenming Xu 2024 The Texas Medical Center Library

Biallelic Variants In Rbm42 Cause A Multisystem Disorder With Neurological, Facial, Cardiac, And Musculoskeletal Involvement, Yiyao Chen, Bingxin Yang, Xiaoyu Merlin Zhang, Songchang Chen, Minhui Wang, Liya Hu, Nina Pan, Shuyuan Li, Weihui Shi, Zhenhua Yang, Li Wang, Yajing Tan, Jian Wang, Yanlin Wang, Qinghe Xing, Zhonghua Ma, Jinsong Li, He-Feng Huang, Jinglan Zhang, Chenming Xu

Faculty, Staff and Students Publications

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of …


A Case Of Persistent Ophthalmic Artery Occlusion After Migraine In The Setting Of Cerebral Vascular Anomalies, Khaled Moumneh, Austin Bach 2024 HCA Healthcare

A Case Of Persistent Ophthalmic Artery Occlusion After Migraine In The Setting Of Cerebral Vascular Anomalies, Khaled Moumneh, Austin Bach

West Florida Division GME Research Day 2024

No abstract provided.


The Benefits Of Medical Tetrahydrocannabinol On Glaucoma, Hunter Kane 2024 Marshall University

The Benefits Of Medical Tetrahydrocannabinol On Glaucoma, Hunter Kane

Theses, Dissertations and Capstones

Introduction: This paper explores the potential therapeutic benefits of medical Tetrahydrocannabinol (THC) on glaucoma management, particularly in terms of intraocular pressure (IOP) reduction, ocular blood flow, and symptom management. Glaucoma, characterized by increased IOP and progressive optic nerve damage, is a leading cause of irreversible blindness. Current treatments focus on IOP control but may have inadequate efficacy or intolerable side effects, necessitating alternative approaches such as medical THC.

Methods: The study hypothesis posited that medical THC could significantly reduce IOP, enhance ocular blood flow, and improve symptom management in glaucoma patients. To test this hypothesis, a literature review supplemented by …


The Potential Beneficial Role Of Anti-Platelet/Anti-Coagulant Medications On Diabetic Retinopathy: A Scoping Review Protocol, Sarah Draud, Qingjun Wang, Lauren E. Robinson 2024 University of Kentucky

The Potential Beneficial Role Of Anti-Platelet/Anti-Coagulant Medications On Diabetic Retinopathy: A Scoping Review Protocol, Sarah Draud, Qingjun Wang, Lauren E. Robinson

Markey Cancer Center Faculty Publications

Diabetic retinopathy (DR) is a prevalent microvascular complication of diabetes mellitus (DM, both types 1 and 2), affecting millions of individuals worldwide. DM is known to induce changes in platelet function and hemostasis, thereby elevating the risk of thrombotic incidents. The hyperglycemic environment in DM can trigger platelet hyperactivity, potentially exacerbating the onset and progression of DR. Despite the intricate pathophysiology of DR, which involves oxidative stress, inflammation, retinal neovascularization, and the disruption of the blood-retina barrier, the specific mechanisms underlying platelet hyperactivity in the microvasculature of DM patients remain inadequately explored. Antiplatelet and anticoagulation medications have proven beneficial in …


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