Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disease characterized by increased concentrations of low-density lipoprotein (LDL-C) cholesterol in the blood. The risk of premature coronary heart disease in FH patients may increase without early treatment. Advancement in molecular biology techniques has enable early detection and diagnosis of FH. These techniques are cost-effective and have a shorter turnaround time. The current diagnostic tools available for FH diagnosis involving algorithm-based scoring criteria and various molecular diagnosis methods including next-generation sequencing (NGS), Sanger sequencing, Multiplex ligation-dependent probe amplification (MLPA) and DNA hybridisation assay are discussed in this review. However, molecular genetic testing is not widely available due to time-consuming procedures, high cost and requires trained personnel. Thus, this 36 review highlights the use of point of care (POC) testing as an approach to diagnose FH, particularly in countries lacking infrastructure and expertise in this field. Lateral flow testing (LFA) has gained attention as a POC diagnostic tool due to its simplicity, low cost and involved simple procedure and settings. The advantages of LFA made this technique a potential tool in addressing challenges in diagnosing FH, particularly for early diagnosis of family members.

Full thickness skin graft is a simple and reliable method for closure of small facial wound defect. A thorough understanding of how a skin graft heals and how to perform the procedure is essential for successful outcome. We report the use of full thickness skin graft in a wound closure of a facial skin defect caused by Paederus fuscipes, locally known as charlie. An 8-year old boy developed blister and painful swelling over his right cheek following skin contact with charlie. This lesion gradually became extensive, eventually leading to tissue loss and facial wound defect. A full thickness skin grafting was performed with satisfactory functional and excellent aesthetic result.

Introduction: Cardiovascular disease is the leading cause of death worldwide. Despite the proven benefit of secondary prevention medications (SPMs), their utilisation remains suboptimal in many countries. This study aimed to assess the use of SPMs in a Malaysian primary care clinic and factors associated with it. Methods: A retrospective review of electronic medical records was conducted to assess the prescription of SPMs among patients with coronary artery disease who attended the clinic between 1st January 2018 and 31st December 2018. Prescriptions of SPMs were documented in numbers and percentages. Multiple logistic regressions were used to analyse factors associated with the prescription of SPMs. Results: Of the 662 patients included in the study, 99.1% were prescribed statins, 97% antiplatelets, 81.7% angiotensin-converting enzyme (ACE)-inhibitors or angiotensin Ⅱ receptor blockers (ARBs), and 78.7% beta-blockers. Male patients were more likely to be prescribed statins (OR = 8.584, 95% CI: 1.431 – 51.510) and antiplatelets (OR = 6.818, 95% CI: 2.294 – 20.257). Another significant factor for antiplatelets prescription was having diabetes (OR = 3.318, 95% CI: 1.148 – 9.590). Having hypertension was associated with ACE-inhibitors or ARBs prescription (OR = 4.008, 95% CI: 2.522 – 6.370). Conclusion: Although the majority of patients received SPMs, there were significant disparities for some SPMs prescriptions among female patients. As these medications are widely available in the Malaysian primary care setting, steps should be taken to ensure that these medications are prescribed equally for all eligible patients.

Aims: Andrographis paniculata (AP), a medicinal herb was selected to investigate the antifungal activity on selected dermatophyte fungi. The phytochemical screening was also carried out to evaluate its chemical constituents. Methodology and results: The potato dextrose agar (PDA) incorporated with aqueous, ethanol and methanol AP extracts at concentrations 0.99% (v/v), 1.96% (v/v) and 7.41% (v/v) were used for selected fungi culturing; Trichophyton mentagrophytes, T. rubrum, T. interdigitale, Microsporum fulvum, M. nanum, M. gypseum, M. canis, Fusarium solani and Aspergillus fumigatus. Phytochemical screening showed the presence of flavonoids, saponins and tannins in the ethanol extract and flavonoids alone in both aqueous and methanol extracts. Studies on antifungal effects indicated that the ethanol extract significantly increased the mycelial inhibition percentage of all tested fungi, especially at a concentration of 7.41% (v/v). All ethanol AP extract concentrations inhibited M. gypseum and M. canis (p<0.05) with at least 36.00% mycelial inhibition. In aqueous AP extract, it significantly increased the mycelial inhibition of T. mentagrophytes, T. interdigitale and M. gypseum (p<0.05), while the methanol AP extract significantly inhibited all fungi at a concentration of 7.41% (v/v) except for T. rubrum, M. gypseum and F. solani (p<0.05). No spore sedimentation was recorded for the fungal spores of T. rubrum, M. nanum, T. mentagrophytes, M. gypseum and T. interdigitale at 7.41% (v/v) ethanol AP. Conclusion, significance and impact of study It is concluded that the ethanol AP extract contained phytochemical constituents and showed the highest antifungal activity. In addition, this extract has a great potential to treat dermatophytes effectively.
Antifungal Agents ; Phytochemicals ; Andrographis paniculata ; Dermatomycoses

Introduction: This study aimed to evaluate the correlation between Quality of Life Impact of Refractive Correction (QIRC) score with visual disturbances and contrast sensitivity in spectacle wearers. Methods: A total of 21 spectacle-corrected moderate myopes was recruited. Subjects completed the QIRC questionnaire for quality of life assessment. The functional and emotional QIRC scores were analysed separately. Visual disturbances were evaluated using the Halo and Glare Simulator, and contrast sensitivity was measured by the M&S Smart System II. All measurements were taken binocularly in 1 lux illumination. Spearman’s test was employed to evaluate the correlations. Results: The most common visual disturbance was diffuse glare. The functional QIRC score was significantly correlated with glare intensity (r = -0.54, P = 0.01). Whereas, the emotional QIRC score was significantly correlated with contrast sensitivity (r = 0.45, P = 0.04). Conclusion: The functional QIRC score is lower when the glare intensity is greater, and the emotional QIRC score is higher in person with greater contrast sensitivity. Hence, glare intensity and contrast sensitivity measurements are suggested to predetermine spectacle wearers’ functional vision and well-being, respectively

Introduction: Coated archwires improve aesthetics during orthodontic treatment. However, little is known regarding their clinical benefit. This randomised controlled trial (RCT) compared the tooth alignment (TA), coating loss (CL), colour change (∆E*), and patient perception of coated archwires with their controls. Details of ∆E* and perception were reported in the second part of the articles. Methods: This RCT was done at three centres. Participants were randomised to receive one of four treatment interventions using 0.014” superelastic coated nickel-titanium archwires from Orthocare, RMO, G&H, and conventional uncoated 3M Unitek® archwires. These archwires were ligated during bonding and collected after eighth week and questionnaires were distributed to participants in the experimental groups only. After removal, TA and CL were measured using Little’s Irregularity Index and Autodesk® AutoCAD® software, respectively. At the time of this preliminary reporting, 84 participants had completed the trial. Two archwires fractured and were excluded. Therefore, 166 archwires (n = 166) were analysed. Results: Only non-extraction cases showed statistically significant differences in TA change between all groups (p = 0.005) and RMO showed significantly lowest mean of TA (1.5 mm). RMO and Orthocare showed significant TA change in the upper and lower arches (p = 0.037, 0.048). CL was found to be insignificant for both extraction and non-extraction cases (p >0.05). Comparison between upper and lower arches revealed no significant difference in TA and CL in all groups (p >0.05). Conclusion: From this preliminary analysis, Orthocare provides better TA in non-extraction cases despite highest percentage of coating loss.

Lasers have been identified as one of the preventive tools that can be utilised to prevent white spot lesion in orthodontic practice. The aim of this scoping review was to evaluate the current scientific literature on the use of lasers specifically to prevent white spot lesion in orthodontic cases. Search was performed in PubMed, Web of Science, Scopus and EBSCO databases from the past ten years. The records obtained were peruse considering specific inclusion and exclusion criteria. From the total of 1123 studies that were evaluated, 68 papers were included for this review. A variety of laser types has been reported including Er;YAG, Er,Cr:YSGG, Argon and CO2 lasers. CO2 laser has a good number of evidence of it’s positive result and can be suggested to be use in clinical practise. However, since most data for the other type of lasers were derived from in vitro studies, they must be interpreted with care. Randomised clinical trials would be beneficial to give more meaningful evidence for clinicians to adopt lasers in their practice.

Introduction: Coated archwires improve aesthetics because of the tooth-coloured appearance. However, colour change of the coated archwires have been reported in vitro. Nonetheless, little is known to what extent this colour change occurs clinically. This second part of the multi-centre, double-blind, randomised controlled trial evaluated the colour change (∆E*) of three coated archwires with their controls and patient perception. Methods: 84 patients who received treatment with upper and lower fixed appliance treatment were invited. Consented patients were randomised to receive one of four treatment interventions using 0.014” superelastic nickel-titanium archwires from (1) Orthocare (2) RMO (3) G&H, and (4) 3M Unitek® uncoated. These archwires were ligated during bonding and collected after 8th week. After removal, the digital images of the archwires were assessed for colour change using Adobe® Photoshop® software, and the CIE L*a*b* system was used to calculate the ΔE* values. Patient perception was measured using oral aesthetic subjective impact scale (OASIS) questionnaire. Results: For colour change and patient perception assessment, 132 archwires from 66 participants who had been treated with aesthetic archwires were collected. Two fractured archwires were excluded. Initial analysis revealed all three aesthetic archwires groups showed significant mean of ∆E* with the highest was found in Orthocare (23.9), and the lowest is G&H (16.8). Post hoc comparison revealed statistically significant mean of ∆E* in Orthocare when compared with other groups (p <0.001). There was no statistically significant difference for patient perception between archwire groups. Conclusion: Preliminary results revealed that significant ∆E* in Orthocare group and patients showed positive perception following clinical use
Craniofacial & ; Biomaterial Sciences Cluster, Advanced Medical & ; Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Penang, Malaysia. 2 School of Dental Sciences, Universiti Sains Malaysia (Health Campus), 16150 Kubang Kerian, Kelantan, Malaysia

Most health advisories related to outdoor physical activity during haze are general in nature. The advisories normally advise everyone to reduce or limit prolonged exertion or heavy exertion without mentioning the acceptable duration for performing outdoor physical activity causing difficulty for public to decide to stop or cancel a particular outdoor or sport event. The aim of this paper is to determine the acceptable duration for performing outdoor physical activity pattern based on API level. Health risk assessment approach that comprises of hazard identification, exposure assessment, dose-response, and risk characterization steps were used to determine the potential inhaled dose and risk associated with performing the physical activity during haze. We have considered many factors that include time spent for physical activity patterns for Malaysian adult, age, physical intensity-specific inhalation rate (m3/min), and the indoor/outdoor ratio of PM10. A hypothetical exposure scenario of PM10 was created using the breakpoints of PM10 concentration for the calculation of respective API levels. The association between physical activity pattern, API level and risk quotient were presented in the form of risk radar diagram. In general, based on the average estimate, everyone should avoid high intensity physical activity and moderate exertion when API reach > 175 and > 200 respectively. Whereas, based on the high estimate, everyone should avoid high intensity physical activity and moderate exertion when API reach > 135 and > 150 respectively. Below the said API, the duration for performing prolonged exertion and heavy exertion should be adjusted according to the API level as stated in the recommended maximum duration for performing physical activity. Reducing the physical activity is an effective strategy to lower the dose of inhaled pollutants and reduce the health risk during poor air quality. Based on the assessment, the recommended maximum duration for performing the physical activity based on API level was established as a guide for the authority or public to plan their activity during poor air quality.​