We report the referral of an HIV-infected surgeon and a subsequent first-ever recommended look-back investigation in Hong Kong. Efficient coordination and effective implementation of the look-back ...investigation yielded a high response rate of 92.3% of priority patients, with none tested HIV positive. Our experience reconfirmed the very small risk of provider-to-patient HIV transmission and the crucial importance of infection control.
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based ...genome-wide association study (seqGWAS) in 132 unrelated male PUV cases and 23,727 controls of diverse ancestry, identifying statistically significant associations with common variants at 12q24.21 (p=7.8 × 10
; OR 0.4) and rare variants at 6p21.1 (p=2.0 × 10
; OR 7.2), that were replicated in an independent European cohort of 395 cases and 4151 controls. Fine mapping and functional genomic data mapped these loci to the transcription factor
and planar cell polarity gene
, respectively, the encoded proteins of which were detected in the developing urinary tract of human embryos. We also observed enrichment of rare structural variation intersecting with candidate
-regulatory elements, particularly inversions predicted to affect chromatin looping (p=3.1 × 10
). These findings represent the first robust genetic associations of PUV, providing novel insights into the underlying biology of this poorly understood disorder and demonstrate how a diverse ancestry seqGWAS can be used for disease locus discovery in a rare disease.
The detection of pain in persons with advanced dementia is challenging due to their inability to verbally articulate the pain they are experiencing. Pain Assessment in Advanced Dementia (PAINAD) is ...an observer-rated pain assessment tool developed based on non-verbal expressions of pain for persons with severe dementia. This study aimed to perform construct validation of PAINAD for pain assessment in persons with severe dementia in Malaysia. This was a prospective cross-sectional study conducted from 27 April 2022 to 28 October 2022 in eight public hospitals in Malaysia. The PAINAD scale was the index test, and the Discomfort Scale—Dementia of the Alzheimer Type (DS-DAT) and Nurse-Reported Pain Scale (NRPS) were the reference tests for construct and concurrent validity assessment. Pain assessment for the study subjects was performed by two raters concurrently at rest and during activity. The PAINAD score was determined by the first rater, whereas the DS-DAT and NRPS were assessed by the second rater, and they were blinded to each other’s findings to prevent bias. PAINAD showed good positive correlations ranging from 0.325 to 0.715 with DS-DAT and NRPS at rest and during activity, with a p-value of <0.05. It also demonstrated statistically significant differences when comparing pain scores at rest and during activity, pre- and post-intervention. In conclusion, the PAINAD scale is a reliable observer-rated pain assessment tool for persons with severe dementia in Malaysia. It is also sensitive to changes in the pain level during activity and at rest, pre- and post-intervention.
