Publications by authors named "L M Milstone"

This study assesses the feasibility and acceptability of a Firearm Safe Storage Device Distribution Program. The distribution took place at the Break the Cycle of Violence Summit hosted by the Johns Hopkins Medicine, the Break the Cycle Hospital Violence Intervention Program, and the Johns Hopkins Bloomberg School of Public Health Center for Gun Violence Solutions. The findings will guide future efforts to distribute safe storage devices in clinical settings.

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Monogenic skin disorders such as ichthyosis introduce multiple sources of disturbance to the skin, including the direct biochemical consequences of the genotype, the phenotypic changes in skin physiology, and an altered skin microbiome. The association between changes in the skin microbiome and the disease's genotypic and phenotypic effects are of both ecological and clinical interest but are historically obscured by 1) the limited resolution of metagenomic profiles, and 2) additional sources of variation such as age and topical/oral treatments. Here we characterize the skin microbiome from seven ichthyosis genotypes, at species, strain, and metabolic pathway levels.

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Importance: Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to establish.

Objective: To expand the genotypic and phenotypic spectra of ichthyosis and delineate genotype-phenotype associations.

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