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.

Detectability of use errors in summative usability tests of medical devices: Impact of the test environment.

The regulations on summative usability evaluations of medical devices (MDs) emphasize that the test environment must have sufficient ecological validity for generalization to real-life use. Here, we examined the influence of environmental fidelity (a component of ecological validity) on the detectability of MD use errors. A total of 140 participants participated in a summative usability evaluation of an anaphylactic shock auto-injector device under either a high-fidelity condition or a condition acceptable from the manufacturer's perspective, lower-fidelity condition.

Use of a Semiautomatic Text Message System to Improve Satisfaction With Wait Time in the Adult Emergency Department: Cross-sectional Survey Study.

Background: Many factors influence patient satisfaction during an emergency department (ED) visit, but the perception of wait time plays a central role. A long wait time in the waiting room increases the risk of hospital-acquired infection, as well as the risk of a patient leaving before being seen by a physician, particularly those with a lower level of urgency who may have to wait for a longer time.

Objective: We aimed to improve the perception of wait time through the implementation of a semiautomatic SMS text message system that allows patients to wait outside the hospital and facilitates the recall of patients closer to the scheduled time of meeting with the physician.

A National Survey Comparing Patients' and Transplant Professionals' Research Priorities in the Swiss Transplant Cohort Study.

We aimed to identify, assess, compare and map research priorities of patients and professionals in the Swiss Transplant Cohort Study. The project followed 3 steps. 1) Focus group interviews identified patients' ( = 22) research priorities.