Musculoskeletal, Neural, and Ocular Physiology Commons^™

Gene-Agnostic Therapeutic Strategies For Inherited Retinal Diseases: Neuroprotection And Immunomodulation, Lucas W. Rowe, S. Patricia Becerra, Robert E. Maclaren, Robert L. Avery, Charles C. Wykoff, Allen C. Ho, Carl D. Regillo, Dean Eliott, Andrew Osborne, Katie M. Binley, Thomas A. Ciulla

Wills Eye Hospital Papers

Background/Objectives: Inherited retinal diseases (IRDs) represent a genetically heterogeneous group of disorders caused by mutations in over 280 genes with more than 3100 identified variants. While gene-specific replacement therapies have achieved landmark success with voretigene neparvovec (Luxturna) for biallelic RPE65-associated retinal dystrophy, developing individual therapies for each genetic subtype remains impractical. This review examines gene-agnostic therapeutic approaches utilizing neuroprotection and immunomodulation that target common pathophysiological mechanisms shared across multiple IRD genotypes. Methods: We reviewed the literature on neuroprotective and immunomodulatory gene therapy strategies for IRDs, focusing on neurotrophic factors and complement system modulation. Results: Neuroprotective approaches delivering neurotrophic factors—including pigment …

The Effects Of Bone-Remodeling Therapy On Survival, Pain, And Skeletal Related Events In The Setting Of Renal Cell Carcinoma With Bone Metastases: A Multicenter Investigation From A Large Global Health Research Network (Trinetx), Brian H. Im, Kevin K. Zarrabi, Aaron R. Hochberg, Mihir M. Shah, Md, James R. Mark, Joseph K. Izes, Patrick T. Gomella, Costas D. Lallas, Leonard G. Gomella, Adam R. Metwalli

Department of Urology Faculty Papers

INTRODUCTION: Renal cell carcinoma (RCC) is the most common renal malignancy-bone metastases (BM) are indicative of aggressive disease with a poor prognosis. We aim to evaluate the overall mortality of patients with RCC with and without BM, and to elucidate the effects of bone-remodeling therapy on mortality, incidence of skeletal-related events, and opioid usage patterns in patients with BM.

METHODS: A retrospective cohort study was conducted using TriNetX, a large, collaborative network sourced from electronic medical records of over 110 million patients from over 100 healthcare organizations. All adult patients with RCC and RCC with BM were queried.

RESULTS: There …

Somatosensory Realignment Following Single And Dual Force-Field Adaptation, Dylan Zangakis, Aaron Wong, Amanda S. Therrien

Moss-Magee Rehabilitation Papers

Evidence that adaptive motor learning coincides with a realignment of somatosensory perception has led to hypotheses that a shared mechanism underlies both processes. This implies that these two phenomena should exhibit similar properties. However, studies of somatosensory realignment with visuomotor adaptation have shown mixed support, possibly due to a confounding coactivation of sensory prediction errors and multisensory integration. Although the former is thought to drive adaptation, both processes may contribute to somatosensory realignment. Here, we examined somatosensory realignment following force-field adaptation, which is not confounded by multisensory integration. Across two experiments, we tested whether somatosensory realignment mimics three canonical properties …

Associations Between Contralesional Neuroplasticity And Motor Impairment Through Deep Learning-Derived Mri Regional Brain Age In Chronic Stroke (Enigma): A Multicohort, Retrospective, Observational Study, Gilsoon Park, Mahir Khan, Justin Andrushko, Nerisa Banaj, Michael Borich, Lara Boyd, Amy Brodtmann, Truman Brown, Cathrin Buetefisch, Adriana Conforto, Steven Cramer, Michael Dimyan, Martin Domin, Miranda Donnelly, Natalia Egorova-Brumley, Elsa Ermer, Wuwei Feng, Fatemeh Geranmayeh, Colleen Hanlon, Brenton Hordacre, Neda Jahanshad, Steven Kautz, Mohamed Salah Khlif, Jingchun Liu, Martin Lotze, Bradley Macintosh, Feroze Mohamed, Jan Nordvik, Fabrizio Piras, Kate Revill, Andrew Robertson, Christian Schranz, Nicolas Schweighofer, Na Jin Seo, Surjo Soekadar, Shraddha Srivastava, Bethany Tavenner, Gregory Thielman, Sophia Thomopoulos, Daniela Vecchio, Emilio Werden, Lars Westlye, Carolee Winstein, George Wittenberg, Jennifer Ferris, Chunshui Yu, Paul Thompson, Sook-Lei Liew, Hosung Kim

Department of Radiology Faculty Papers

BACKGROUND: Stroke leads to complex chronic structural and functional brain changes that specifically affect motor outcomes. The brain predicted age difference (PAD) has emerged as a sensitive biomarker of both sensorimotor and cognitive function after stroke. Our previous study showed a higher global brain PAD associated with poorer motor function after stroke. However, the association between local stroke lesion load, regional brain age, and motor impairment is unclear. This study aimed to investigate the associations between focal lesion damage, regional brain PAD in both hemispheres, and motor outcomes in chronic stroke, and to identify key predictors of motor impairment.

METHODS: …

Understanding The Effects Of Real-Time Head Position Feedback On Postural Sway In Terms Of Changes In Underlying Deterministic And Stochastic Dynamical Processes, Steven J. Harrison, Benjamin De Bari, Ryan Poutre, Jeffrey M. Kinsella-Shaw

College of Humanities and Sciences Faculty Papers

Our perceptual systems detect information about how our body is moving relative to the surrounding environment. Such information is essential to our ability to maintain upright standing balance. Real-time postural feedback systems are technologies that appear to enhance our ability to detect information about the movements of our body, and as a consequence improve our capacity to control the posture of our body. Here we examine a system in which real-time measurements of head position were "felt" as changes in the intensity of vibration of tactors in a headband. Using this system, participants were able to stabilize their body posture, …

The Impact Of Myopia On Regional Visual Field Loss And Progression In Glaucoma, Anagha Lokhande, Luo Song, Yueyin Pang, Yan Luo, Louis R. Pasquale, Sarah R. Wellik, Carlos G. De Moraes, Jonathan S. Myers, Mohammad Eslami, Tobias Elze, Lucy Q. Shen, Nazlee Zebardast, David S. Friedman, Michael V. Boland, Mengyu Wang

Wills Eye Hospital Papers

PURPOSE: The purpose of this study was to investigate the impact of myopia on regional visual field (VF) loss and progression in glaucoma.

METHODS: We included 112,633 24-2 VFs; longitudinal analyses comprised patients with at least 5 reliable VFs over 4 years. The degree of myopia was measured by spherical equivalent (SE) extracted from VF testing. Linear and Cox regressions determined the impact of myopia on regional VF loss and progression, respectively. We calculated three VF progression outcomes: (1) mean deviation (MD) progression: MD slope < 0; (2) total deviation (TD) pointwise progression: at least 3 TD locations with TD slope ≤-1 decibels (dB)/year; (3) MD fast progression: MD slope ≤-1 dB/year (P value < 0.05). Longitudinal analyses were conducted for all subjects and with exclusion of patients with high myopia (SE ≤-6.00 diopters [D]).

RESULTS: More negative SE values were associated with worse TD values in the paracentral VF …

Ovarian Cancer G Protein-Coupled Receptor-1 Signaling Bias Dictates Anti-Contractile Effect Of Benzodiazepines On Airway Smooth Muscle, Dominic R. Villalba, Arun K. Jannu, Elham Javed, Isha Dandekar, Ruping Wang, Deepak A. Deshpande, Steven S. An, Reynold A. Panettieri, Dale D. Tang, Raymond B. Penn, Ajay P. Nayak

Center for Translational Medicine Faculty Papers

BACKGROUND: We recently reported that the ovarian cancer G protein-coupled receptor-1 (OGR1) can be pharmacologically biased with specific benzodiazepines to couple with distinct heterotrimeric G proteins in human airway smooth muscle (ASM) cells. Lorazepam stimulated both G

METHODS: Models of histamine (His) -stimulated contraction included imaging of ex vivo human precision cut lung slices (hPCLS) and Magnetic Twisting Cytometry (MTC) analysis of human ASM cell stiffness. To explore mechanisms of regulation, we examined effects on myosin light chain (pMLC) phosphorylation and PKA activity in primary human ASM cultures, as well as actin cytoskeleton integrity as defined by changes in the …

Differences In Neural Activation Between Actual Tool Use And Pantomime: Evidence For Two Different Streams?, Simon Thibault, Raphaël Py

Moss-Magee Rehabilitation Papers

No abstract provided.

Commentary: A Patient-Specific Lower Extremity Biomechanical Analysis Of A Knee Orthotic During A Deep Squat Movement, Christine Dailey Walck

Publications

The recent study by Walck et al., titled “A Patient-Specific Lower Extremity Biomechanical Analysis of a Knee Orthotic during a Deep Squat Movement,” provides a novel insight into the biomechanical impacts of knee orthotics, particularly the non-linear spring-loaded (NLSL) knee joint orthosis (KJO)1 . This commentary aims to delve into the implications, interpretations, and evaluations of the findings, contextualizing them within the broader discourse on knee orthotics.

Bilateral Facial Spasm Following Guillain-Barré Syndrome, Zain Guduru, John Morgan, Kapil Sethi

Neurology Faculty Publications

Background: We report a patient who developed lower facial muscle spasm at rest and bilateral facial synkinesis several months after treatment of Guillain–Barré syndrome (GBS); this finding, to our knowledge, is hitherto unreported.

Phenomenology Shown: Bilateral synkinesis, facial muscles spasm at rest, bilateral postparalytic facial syndrome.

Educational Value: Aberrant regeneration of nerve fibers post GBS, resulting in facial muscles spasm at rest, bilateral synkinesis.

Effect Of Head And Limb Orientation On Trunk Muscle Activation During Abdominal Hollowing In Chronic Low Back Pain, Kevin Parfrey, Sean G. Gibbons, Eric J. Drinkwater, David G. Behm

Research outputs 2014 to 2021

Background: Individuals with chronic low back pain (CLBP) have altered activations patterns of the anterior trunk musculature when performing the abdominal hollowing manœuvre (attempt to pull umbilicus inward and upward towards the spine). There is a subgroup of individuals with CLBP who have high neurocognitive and sensory motor deficits with associated primitive reflexes (PR). The objective of the study was to determine if orienting the head and extremities to positions, which mimic PR patterns would alter anterior trunk musculature activation during the hollowing manoeuvre. Methods. This study compared surface electromyography (EMG) of bilateral rectus abdominis (RA), external oblique (EO), and …