Functional and Molecular Characterization of New Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).

Hereditary sensory and autonomic neuropathy type 1 is an autosomal dominant neuropathy caused by the or variants. These variants modify the preferred substrate of serine palmitoyl transferase, responsible for the first step of sphingolipids synthesis, leading to accumulation of cytotoxic deoxysphingolipids. Diagnosis of HSAN1 is based on clinical symptoms, mainly progressive loss of distal sensory keep, and genetic analysis.

Relationships Between Expertise, Crew Familiarity and Surgical Workflow Disruptions: An Observational Study.

Background: Teamwork is an essential factor in reducing workflow disruption (WD) in the operating room. Team familiarity (TF) has been recognized as an antecedent to surgical quality and safety. To date, no study has examined the link between team members' role and expertise, TF and WD in surgical setting.