Publications by authors named "Katherine L Beaverson"
Background: Duchenne muscular dystrophy (DMD) is a progressive, life-limiting, neuromuscular disorder. Clinicians play an important role in informing families about therapy options, including approved gene therapies and clinical trials of unapproved therapies.
Objective: This study aimed to understand the perspectives of clinicians about gene therapy for DMD, which has not previously been studied.
Background: The International Rare Diseases Research Consortium (IRDiRC) is an international initiative that aims to use research to facilitate rapid diagnosis and treatment of rare diseases.
Objective: IRDiRC launched the Chrysalis Task Force to identify key financial and nonfinancial factors that make rare disease research and development attractive to companies.
Methods: The Chrysalis Task Force was comprised of thought leaders from companies, patient advocacy groups, regulatory agencies, and research funders.
Background: Retinoblastoma patients with RB1 germline mutations are at risk of developing second malignancies and external beam radiation therapy increases the risk. Carboplatin-containing chemotherapy regimens in conjunction with local therapies have been investigated for intraocular retinoblastoma, but the lack of data regarding the efficacy of single agent intravenous carboplatin prompted this phase II study.
Procedure: Twenty-five patients (43 eyes) were treated with intravenous carboplatin (18.
We investigated the epigenetic silencing and genetic changes of the RAS-associated domain family 1A (RASSF1A) gene and the O6-methylguanine-DNA methyltransferase (MGMT) gene in retinoblastoma. We extracted DNA from microdissected tumor and normal retina tissues of the same patient in 68 retinoblastoma cases. Promoter methylation in RASSF1A and MGMT was analyzed by methylation-specific PCR, RASSF1A sequence alterations in all coding exons by direct DNA sequencing, and RASSF1A expression by RT-PCR.
View Article and Find Full Text PDFMicrosatellite instability and MLH1 promoter methylation in human retinoblastoma.
Invest Ophthalmol Vis Sci
October 2004
Purpose: To investigate the link between microsatellite instability and epigenetic silencing of the MLH1 gene in the human retinoblastoma genome.
Methods: Methylation at the 5' region of MLH1 was studied, along with its protein expression level by using immunohistochemical staining in 51 retinoblastoma tumors and 2 retinoblastoma cell lines. Also assessed was the genomic stability of 26 retinoblastoma DNAs from microdissected tumor tissue and matched normal retina tissue obtained from the same patient by microsatellite instability (MSI) analysis.
Objective: To describe patient and ocular outcomes following initial treatment with external beam radiotherapy (EBT) in eyes with Reese-Ellsworth group Vb retinoblastoma.
Methods: Retrospective case series (from January 1, 1979, to February 28, 2002). The Kaplan-Meier method was used to analyze survival (ocular and patient) and incidence (second cancer) data.
Purpose: To determine the extent of expansion of laser scars after single treatment with transpupillary thermotherapy (TTT) for retinoblastoma.
Design: We retrospectively reviewed medical records and RetCam (Massie Industries, Dublin, CA) digital fundus photographs of patients with retinoblastoma who received TTT by use of an 810-nm diode laser with large-spot indirect ophthalmoscope. Digital images were measured by use of RetCam software beginning immediately after treatment.
Objectives: To identify patients with retinoblastoma whose conditions were diagnosed at the age of 1 month or younger and to describe their clinical features (including ocular and patient survival) and the development of second nonocular tumors.
Materials And Methods: A retrospective study of 1831 patients. The cumulative incidence of second cancer development was analyzed using the Kaplan-Meier method.