Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease.

Introduction: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging sequencing technologies are now being deployed in the clinical setting to address the remaining diagnostic gap.

Methods: We tested whether short-read genome sequencing could increase diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive clinical genetic testing.

Joy and humanity in communication: A design-based research approach to developing and understanding the impact of a novel education programme on hospital staff, co-designed and facilitated by clown doctors.

Aim: Clown doctors have a unique skill set and role, particularly in paediatric settings. Yet, there is limited research on whether clown doctors themselves could play a role in sharing these skills with health professionals. Acknowledging uncertainty in what our intervention should be, we used a design-based research (DBR) approach with the aim of (i) shaping the educational design and content of communication skills-based workshops for clinicians and (ii) understanding the educational impact on participants.

An Investigation of the Feasibility and Acceptability of Using a Commercial DASH (Dietary Approaches to Stop Hypertension) App in People With High Blood Pressure: Mixed Methods Study.

Background: The use of smartphone apps for dietary self-management among patients with high blood pressure is becoming increasingly common. Few commercially available DASH (Dietary Approaches to Stop Hypertension) diet apps have the potential to be effective, and only a few of these have adequate security and privacy measures. In previous studies, we identified 2 high-quality apps that are likely effective and safe.

Design and Implementation of a Computer-Controlled Hybrid Oscillatory Ventilator.

During mechanical ventilation, lung function and gas exchange in structurally heterogeneous lungs may be improved when volume oscillations at the airway opening are applied at multiple frequencies simultaneously, a technique referred to as multifrequency oscillatory ventilation (MFOV). This is in contrast to conventional high-frequency oscillatory ventilation (HFOV), for which oscillatory volumes are applied at a single frequency. In the present study, as a means of fully realizing the potential of MFOV, we designed and tested a computer-controlled hybrid oscillatory ventilator capable of generating the flows, tidal volumes, and airway pressures required for MFOV, HFOV, conventional mechanical ventilation (CMV), as well as oscillometric measurements of respiratory impedance.