Surgical Management of a Traumatic Mainstem Bronchus Avulsion.

Traumatic tracheobronchial tree injuries are rarely survivable. We present the case of a 31-year-old male patient who had a delayed discovery of a complete right mainstem bronchus avulsion following a motor vehicle collision. Despite initial respiratory stability, the patient rapidly deteriorated on hospital day 4.

Drug Development.

Background: Clinical trial sponsors rely on research sites to identify and enroll appropriate study participants and to correctly and reliably assess symptom severity and function over the course of the trial. Low-recruiting sites represent a large financial and operational burden and may negatively impact trial success either by selecting inappropriate participants and/or high prevalence of data quality issues. We previously reported that >60% of sites in schizophrenia clinical trials recruited ≤5 participants.

Drug Development.

Background: Rater change is inevitable in often lengthy clinical trials in Alzheimer's disease. Other groups have previously assessed the impact of rater change on data variability. Their conclusions varied, possibly due to differing methodologies (e.

GREGoR: Accelerating Genomics for Rare Diseases.

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.

Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.

Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which capture fewer than half of the SVs present in any one individual. Long-read sequencing (LRS) enhances our ability to detect disease-associated and functionally relevant structural variants (SVs); however, its application in large-scale genomic studies has been limited by challenges in sample preparation and high costs.