Alternative care sites and resident exposure in pediatric emergency medicine: Who, what, and where.

Objectives: Emergency medicine (EM) physicians and pediatricians who provide acute pediatric care depend on clinical exposure during residency to learn pediatric EM. Increasing volumes of pediatric patients, especially with behavioral health complaints, have stressed pediatric emergency departments (ED) and prompted clinical operations innovations including alternative care sites outside the main ED. We investigated the impact of these recent trends and resulting alternative care sites on the exposure of residents to core pediatric conditions.

Balanced resuscitation: application to the paediatric trauma population.

Purpose Of Review: Trauma is the leading cause of death in children over 5 years old. Early mortality is associated with trauma-induced coagulopathy (TIC), with balanced resuscitation potentially mitigating the effects of TIC. We review TIC, balanced resuscitation and the best evidence for crystalloid fluid versus early blood products, massive transfusion protocol (MTP) and the optimal ratio for blood products.

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Loss-of-function variants in the BRCA1 and BRCA2 susceptibility genes predispose carriers to breast and/or ovarian cancer. The use of germline testing panels containing these genes has grown dramatically, but the interpretation of the results has been complicated by the identification of many sequence variants of undefined cancer relevance, termed "Variants of Uncertain Significance (VUS)." We have developed functional assays and a statistical model called VarCall for classifying BRCA1 and BRCA2 VUS.

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Sequencing-based genetic tests to identify individuals at increased risk of hereditary breast and ovarian cancers have resulted in the identification of more than 40,000 sequence variants of BRCA1 and BRCA2. A majority of these variants are considered to be variants of uncertain significance (VUS) because their impact on disease risk remains unknown, largely due to lack of sufficient familial linkage and epidemiological data. Several assays have been developed to examine the effect of VUS on protein function, which can be used to assess their impact on cancer susceptibility.