POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Objective: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy.

Radiograph accelerated detection and identification of cancer in the lung (RADICAL): a mixed methods study to assess the clinical effectiveness and acceptability of Qure.ai artificial intelligence software to prioritise chest X-ray (CXR) interpretation.

Introduction: Diagnosing and treating lung cancer in early stages is essential for survival outcomes. The chest X-ray (CXR) remains the primary screening tool to identify lung cancers in the UK; however, there is a shortfall of radiologists, while demand continues to increase. Image analysis by machine-learning software has the potential to support radiology workflows with a focus on immediate triage of suspicious X-rays.

Socioeconomic deprivation and illness trajectory in the Scottish population after COVID-19 hospitalization.

Background: The associations between deprivation and illness trajectory after hospitalisation for coronavirus disease-19 (COVID-19) are uncertain.

Methods: A prospective, multicentre cohort study was conducted on post-COVID-19 patients, enrolled either in-hospital or shortly post-discharge. Two evaluations were carried out: an initial assessment and a follow-up at 28-60 days post-discharge.

Invasive Endotyping in Patients With Angina and No Obstructive Coronary Artery Disease: A Randomized Controlled Trial.

Background: We investigated the usefulness of invasive coronary function testing to diagnose the cause of angina in patients with no obstructive coronary arteries.

Methods: Outpatients referred for coronary computed tomography angiography in 3 hospitals in the United Kingdom were prospectively screened. After coronary computed tomography angiography, patients with unobstructed coronary arteries, and who consented, underwent invasive endotyping.

Post-COVID-19 illness and associations with sex and gender.

Background: Post-COVID-19 syndromes have associated with female sex, but the pathophysiological basis is uncertain.

Aim: There are sex differences in myocardial inflammation identified using cardiac magnetic resonance (CMR) in post-COVID-19 patients, and in patient reported health outcomes following COVID-19 infection.

Design: This prospective study investigated the time-course of multiorgan injury in survivors of COVID-19 during convalescence.