While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for genetic disease diagnosis and acute management guidance. Diagnosis is achieved in 13.5 h by expedited whole genome sequencing, with superior analytic performance for structural and copy number variants. An expert panel adjudicated the indications, contraindications, efficacy, and evidence-of-efficacy of 9911 drug, device, dietary, and surgical interventions for 563 severe, childhood, genetic diseases. The 421 (75%) diseases and 1527 (15%) effective interventions retained are integrated with 13 genetic disease information resources and appended to diagnostic reports (https://gtrx.radygenomiclab.com). This system provided correct diagnoses in four retrospectively and two prospectively tested infants. The Genome-to-Treatment system facilitates optimal outcomes in children with rapidly progressive genetic diseases.

Negative-pressure wound therapy (NPWT) has significantly improved healing rates and patient comfort since its inception. However, a considerable number of questions have been raised regarding its mechanisms of action. Many health care workers and researchers have attempted to clarify the role of NPWT in wound healing. The purpose of this perspective article is to assemble some of the concepts that have been put forward in order to propose an integrated view of the mechanisms involved in NPWT. Particular emphasis will be placed on mechanically induced tissue deformations and their involvement in some of the key processes of wound healing, including nutrient and oxygen transport, blood vessel formation, and cellular proliferation and differentiation, mainly of myofibroblasts.

Purpose: To review the current literature on Coronavirus Disease 2019 (COVID-19) virology and transmission; to present a decision tree for risk stratifying oculofacial plastic and orbital surgeries; and to generate personal protective equipment (PPE) recommendations by risk category. Methods: A comprehensive literature review on COVID-19 was conducted. A two-stage modified Delphi technique involving 18 oculofacial plastic and orbital surgeons across Canada was used to determine consensus risk-stratification criteria and PPE recommendations for surgeries performed in the North American context. Results: COVID-19 is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We summarize COVID-19 virology and transmission, as well as practice considerations for oculofacial plastic and orbital surgeons. Although SARS-CoV-2 is known to be transmitted predominantly by droplet mechanisms, some studies suggest that transmission is possible through aerosols. Among common procedures performed by oculofacial and plastic surgeons, some are likely to be considered aerosol-generating. Risk of transmission increases when manipulating structures known to harbor high viral loads. We present an algorithm for risk-stratification based on the nature of surgery and the anatomical sites involved and offer recommendations for PPE. Conclusions: Although universal droplet precautions are now recommended in most healthcare settings, some clinical situations require more stringent infection control measures. By highlighting high-risk scenarios specific to oculofacial plastic and orbital surgery, as well as PPE recommendations, we hope to enhance the safety of continued care during the COVID-19 pandemic.

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