Introduction: The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed. This study aimed to: (a) compare the diagnostic values of non-caeruloplasmin copper (NCC), NCC percentage (NCC%), copper-caeruloplasmin ratio (CCR) and adjusted copper in WD; and (b) derive and evaluate a discriminant function in diagnosing WD. Methods: A total of 213 subjects across all ages who were investigated for WD were recruited. WD was confirmed in 55 patients, and the rest were WD free. Based on serum copper and caeruloplasmin values, NCC, NCC%, CCR and adjusted copper were calculated for each subject. A function was derived using discriminant analysis, and the cut-off value was determined through receiver operating characteristic analysis. Classification accuracy was found by cross-tabulation. Results: Caeruloplasmin, total copper, NCC, NCC%, CCR, adjusted copper and discriminant function were significantly lower in WD compared to non-WD. Discriminant function showed the best diagnostic specificity (99.4%), sensitivity (98.2%) and classification accuracy (99.1%). Caeruloplasmin levels < 0.14 g/L showed higher accuracy than the recommended 0.20 g/L cut-off value (97.7% vs. 87.8%). Similarly, molar NCC below the European cut-off of 1.6 umol/L showed higher accuracy than the American cut-off of 3.9 umol/L (80.3% vs. 59.6%) (p < 0.001). NCC%, mass NCC, CCR and adjusted copper showed poorer performances. Conclusion: Discriminant function differentiates WD from non-WD with excellent specificity, sensitivity and accuracy. Performance of serum caeruloplasmin < 0.14 g/L was better than that of < 0.20 g/L. NCC, NCC%, CCR and adjusted copper are not helpful in diagnosing WD.

No abstract

Background: The vaccinated travel lane (VTL) between Malaysia and Singapore was implemented to facilitate travelling between countries without the need for quarantine. Objectives: i) Observe the rate of positive SARS-CoV-2 test results amongst inbound international travellers; ii) Explore possible factors associated with the outcome of test results between VTL and non-VTL travellers. Method: This is a retrospective cross-sectional study involving air travellers arriving in Malaysia via the Kuala Lumpur International Airport (KLIA) or Kuala Lumpur International Airport 2 (KLIA2) who were tested for SARS-CoV-2 by reverse transcriptase polymerase chain reaction (RT-PCR) from 29 November 2021 to 15 March 2022. Subject demographics and RT-PCR results were retrieved from the laboratory information system and statistically analysed. Results: Out of 118,902 travellers, mostly were Malaysian nationals (62.7%) and VTL travellers (68.2%) with a median age of 35 years old. A total of 699 (0.6%) of travellers tested positive on arrival, out of which 70.2% had cycle threshold (Ct) values > 30 (70.8% of VTL and 70.0% of non-VTL cohorts). Non-VTL travellers were 4.5 times more likely to test positive compared with VTL travellers (1.25% versus 0.28%; P < 0.001). Conclusion: Tighter entry requirements including vaccination status and testing frequency, the use of sensitive detection methods on arrival and similar public health policies between countries may have contributed to the VTL being a safe and cost-effective mode of travel.

Turner syndrome is one of the most common sex chromosome abnormalities with an estimated true prevalence of 1 in 2,000 in newborns. This case report is of a girl who presented to the adult endocrinologist at 16 years of age and subsequently diagnosed with Turner syndrome. Despite frequenting clinics for unrelated ailments, her short stature was overlooked hence not investigated for a causative pathology. The aim of this report is to explore the diagnostics of Turner syndrome, hormone treatments available and the importance of starting treatment early. KEYWORDS: Turner syndrome, short stature, primary amenorrhoea, osteoporosis

No abstract