HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations associated with short reads challenge their use for the detection of disease-associated variation in complex regions of the genome. Long-read sequencing (LRS) technologies may overcome these challenges, potentially qualifying as a first-tier test for all rare diseases.

Mini Fragment and Small Fragment Screws are Comparable in Acute Syndesmotic Injury.

Ankle fractures are often accompanied by syndesmotic injuries, contributing to instability and potential long term complications. Syndesmotic injuries are traditionally fixed with either small fragment (3.5-mm diameter) or large fragment (4.

The effect of stand-alone and additional preoperative video education on patients' knowledge of anaesthesia: A randomised controlled trial.

Background: Fully digital preoperative information could save valuable time and resources. However, compared with face to face consultations, equivalent levels of safety, patient satisfaction and participation need to be maintained when using other methods to inform patients. This trial compared knowledge retention between preoperative stand-alone video education and face-to-face education by an anaesthesiologist.

The Effect of Topical Capsaicin 8% on Pain in Chemotherapy-induced Peripheral Neuropathy.

Background: Chemotherapy-induced peripheral neuropathy (CIPN) can cause chemotherapy dose reductions and impact patients' quality of life. Few proven treatments exist, with generally modest analgesic effects and possible side effects. Small studies show the beneficial effects of topical capsaicin 8% on pain.