Musculoskeletal Diseases Commons^™

Assessing Access To Orthopaedic Care For Patients With Osteogenesis Imperfecta, Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace

Graduate Medical Education Research Journal

Background. Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth. Patients often need many different medical providers frequently, which may place financial burdens on families. This study sought to identify and understand barriers to care for children with OI.

Methods. We utilized an Institutional Review Board (IRB)-approved survey for primary caregivers of children with OI. Questions included demographic data, type of health insurance, history of and reasons for insurance denials, access to multidisciplinary OI care, and travel to receive OI care. The …

Usp1 Expression Driven By Ews::Fli1 Dually Promotes Ewing Sarcoma Cell Survival By Mitigating The Replication Stress Response And Stabilizing Survivin, Halle Mallard

Theses & Dissertations

Ewing sarcoma (EWS) is a malignant pediatric bone cancer. EWS express a fusion oncogene resulting from the reciprocal translocation of EWSR1 an ETS transcription factor. In most EWS tumors, this occurs with FLI1, creating the EWS::FLI1 fusion oncogene which encodes an aberrant transcription factor. Independent of its transcriptional activity, EWS::FLI1 deregulates other cellular processes driving oncogenesis. For cases with a single, localized tumor, roughly 80% of patients remain event-free after five years. Disease dissemination is a problem – about 25% of patients have metastatic disease at diagnosis. Long-term survival for these patients is less than 40%. Presently, no second line …

Stellate Ganglion Block For Refractory Raynaud’S Phenomenon- A Case Report, William J. Naber Ii, Derik J. Scribner, Gabriel Howard

Graduate Medical Education Research Journal

Introduction: Raynaud’s phenomenon (RP) is predominately a sympathetically mediated ischemic vasospastic disease involving the distal limbs and is associated with sharp pains, numbness, and dermatological color changes. The symptoms are commonly induced by cold weather, stress, and trauma and it is known to affect 4.85% of the population. There are few well-defined treatments for patients with RP that are refractory to 1st-line therapies. We present a case of intractable RP with corresponding response to stellate ganglion block (SGB) which demonstrates the efficacy profile and safety of SNS blocks in treatment of resistant RP.

Methods: Per Bon Secours Mercy Health …

Feasibility And Efficacy Of Bisphosphonate Use For The Prevention Of Bone And Muscle Loss, Laura E. Flores

Theses & Dissertations

Loss of bone and muscle mass often occurs in tandem, increasing the risk of fragility fractures. Whereas many drugs are approved for the treatment of bone loss, there are few treatments available for the concomitant loss of bone and muscle. Identification of a treatment to mitigate pathologic bone and muscle atrophy has the potential to impact countless populations and influence approaches for healthy aging. Bisphosphonates have emerged as a potential treatment for both bone and muscle loss in cellular, murine, and observational human studies. Our findings of modest weight maintenance in postmenopausal women treated with 12-months of risedronate, relative to …

Multi-Digit Auto-Amputation In Setting Of Mixed Connective Tissue Disease, Kishan P. Patel, Jennifer L. Medlin, Michelene Hearth-Holmes

Graduate Medical Education Research Journal

Raynaud’s disease is a cutaneous manifestation often present in various connective tissue and vascular diseases. Depending on the age of onset and acuity of symptoms, the phenomenon can provide clinicians with some insight as to the severity of underlying disease, including the distinction between primary and secondary Raynaud’s. However, this diagnostic approach seems to have its limitations regarding efficacy and timing of treatment. Traditionally, treatment of Raynaud’s has focused on reestablishing blood perfusion to affected tissue, which has previously been achieved with vasodilatory medications and site-specific surgical intervention. In lieu of the severe sequelae of Raynaud’s in the setting of …

Elucidation Of The Functions Of Neuropilin 2 In Osteoclasts In Promoting Prostate Cancer Bone Metastasis., Navatha S. Polavaram

Theses & Dissertations

Bone metastasis is one of the major clinical concerns that causes skeletal related malignancies and increased mortality. Bone is one of the preferred sites for metastatic prostate cancer. The metastatic prostate cancer cells interact with bone cells (osteoblasts and osteoclasts) resulting in an imbalance in the bone homeostasis leading to increased activation of osteoblasts over osteoclasts. Our preliminary data indicated a non-tyrosine kinase receptor Neuropilin 2 (NRP2) is expressed in osteoclasts induced by metastatic prostate cancer cells and acts as a negative regulator of osteoclast differentiation and function. We hypothesize that prostate cancer -induced NRP2 expression in osteoclasts is necessary …