Alpha-protein kinase 3 (ALPK3)-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

AIMS: The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. METHODS AND RESULTS : In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.01, 95% confidence interval (CI) 7.89-29.74, P < 8.36e-11] compared to the Genome Aggregation Database (gnomAD) population. In a validation cohort of 2047 HCM probands, 32 (1.56%) carried heterozygous ALPK3tv (OR 16.17, 95% CI 10.31-24.87, P < 2.2e-16, compared to gnomAD). Combined logarithm of odds score in seven families with ALPK3tv was 2.99. In comparison with a cohort of genotyped patients with HCM (n = 1679) with and without pathogenic sarcomere gene variants (SP+ and SP-), ALPK3tv carriers had a higher prevalence of apical/concentric patterns of hypertrophy (60%, P < 0.001) and of a short PR interval (10%, P = 0.009). Age at diagnosis and maximum left ventricular wall thickness were similar to SP- and left ventricular systolic impairment (6%) and non-sustained ventricular tachycardia (31%) at baseline similar to SP+. After 5.3 ± 5.7 years, 4 (9%) patients with ALPK3tv died of heart failure or had cardiac transplantation (log-rank P = 0.012 vs. SP- and P = 0.425 vs. SP+). Imaging and histopathology showed extensive myocardial fibrosis and myocyte vacuolation. CONCLUSIONS : Heterozygous ALPK3tv are pathogenic and segregate with a characteristic HCM phenotype

Gauging the student learning experience of a mobile application using iBeacon Technology

AHFE 2018 International Conference on Physical Ergonomics & Human Factors, July 21-25, 2018, Loews Sapphire Falls Resort at Universal Studios, Orlando, Florida, USA202305 bckwAccepted ManuscriptOthersHong Kong Polytechnic University; University Grants Committee, Hong KongPublishe

Optical remote sensing

202109 bcvcVersion of RecordPublishe

Investigating the relationship between the built environment and relative risk of COVID-19 in Hong Kong

202101 bcrcVersion of RecordPublishe

Territory-wide identification of geological features on aerial photographs using machine learning for slope safety management

3rd International Conference on Technology in Geo-Engineering ICITG 2019, September 29–October 2, 2019, Guimarães, Portugal202305 bckwAccepted ManuscriptSelf-fundedPublishe

Fast and accurate estimation of solar irradiation on building rooftops in Hong Kong : a machine learning-based parameterization approach

202311 bcchNot applicableRGCPublished24 monthsGreen (AAM

Tree tilt monitoring in rural and urban landscapes of Hong Kong using smart sensing technology

202109 bchyVersion of RecordPublishe

Performance evaluation of iBeacon deployment for location-based services in physical learning spaces

202101 bcrcVersion of RecordPublishe

A review of dynamic tree behaviors : measurement methods on tree sway, tree tilt and root-plate movement

202109 bcvcVersion of RecordPublishe

COVID-19 and contactless learning and teaching : the impact of active participation and user acceptance

202209 bcchOthersUGC Funding Scheme for Teaching and Learning Related Proposals (2016–19 Triennium);Published12 month