Publications by authors named "E A Conner"
Article Synopsis
- Research indicates that despite existing therapies, the outlook for patients with refractory or recurrent rhabdomyosarcoma (RMS) remains poor, prompting exploration of differentiation-inducing treatments.
- In preclinical models of RAS-mutant PAX fusion-negative RMS, MEK1/2 inhibition has shown potential to encourage differentiation, slow tumor growth, and extend survival, although responses are often temporary.
- The study identifies ASAP1 and ARF1 as crucial regulators in promoting differentiation in FN-RMS cells, revealing that targeting these molecules may enhance treatment strategies by affecting key transcriptional regulators, such as WWTR1 (TAZ).
Purpose: Corneal cross-linking (CXL) is the standard of care in patients with keratoconus but presents unique challenges in children and developmentally delayed patients. We present our clinical decision-making algorithm, CXL surgical technique, and outcomes in these groups.
Methods: A retrospective chart review was undertaken at a tertiary referral center of all patients who underwent CXL for keratoconus at University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh between October 1, 2017, and April 1, 2021.
Background: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital muscle disease caused by mutations in the MTM1 gene that result in profound muscle weakness, significant respiratory insufficiency, and high infant mortality. There is no approved disease-modifying therapy for XLMTM. Resamirigene bilparvovec (AT132; rAAV8-Des-hMTM1) is an investigational adeno-associated virus (AAV8)-mediated gene replacement therapy designed to deliver MTM1 to skeletal muscle cells and achieve long-term correction of XLMTM-related muscle pathology.
View Article and Find Full Text PDFPurpose: To describe our experience with locally developed evidence-based guidelines for oral fluorescein angiography (FA) for retinal imaging in children.
Methods: The medical records of consecutive pediatric patients (≤18 years of age) at University of Pittsburgh Medical Center Children's Hospital Eye Center who underwent oral FA between November 1, 2018, and April 1, 2022, were reviewed retrospectively. Adherence to or deviation from the guidelines was noted at the time of testing.
Objective: To describe the first paediatric case series of Thygesons' superficial punctate keratitis (TSPK) with management outcomes.
Methods: A retrospective chart review was done for all children either diagnosed at initial presentation or referred with TSPK from 01/2012 to 08/2021 at a tertiary children's hospital. Records were assessed for signs, symptoms, diagnosis, steroid and cyclosporine 0.