Purpose: To investigate patient-level differences in retinoblastoma presentation, treatments, and outcomes within the United States.
Design: Retrospective registry-based analysis.
Participants: 1,404 retinoblastoma cases in the National Cancer Database, 2004-2016, a US-based cancer registry.
Objective: Male permanent contraception (PC), that is, vasectomy, is an effective way of preventing pregnancy. In the United States, male PC use has historically been concentrated among higher-educated/higher-income males of White race. In the last decade, use of long-acting reversible contraception (LARC) has increased dramatically.
View Article and Find Full Text PDFBackground: Genotype-phenotype associations in recessive dystrophic epidermolysis bullosa (RDEB) have been difficult to elucidate.
Objective: To investigate RDEB genotype-phenotype associations and explore a functional approach to genotype classification.
Methods: Clinical examination and genetic testing of RDEB subjects, including assessment of clinical disease by RDEB subtype and extent of blistering.
Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene, which encodes for type VII collagen and is necessary for dermal-epidermal adhesion and integrity. Disease manifestations include severe and debilitating wounds, aggressive squamous cell carcinomas, and premature death; however, there are currently no approved therapies. This Phase 1/2a, open-label study evaluated the long-term efficacy and safety of gene-corrected autologous keratinocyte grafts (EB-101) for chronic RDEB wounds.
View Article and Find Full Text PDFBackground: Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study was to characterize the most common patient-reported clinical manifestations and the health-related impact of QOL in EBS, and to examine differences in disease burden by age.
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