CASE SUMMARY: This study reports the diagnostic process of a boy with intermediate MSUD. The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age. Preliminary clinical and metabolic profiling did not support a specific disease. However, whole exome sequencing and subsequent Sanger sequencing at 1 year and 7 mo of age identified bi-allelic pathogenic variants of the BCKDHB gene, confirming the proband as having MSUD with non-classic mild phenotypes. His clinical and laboratory data were retrospectively analyzed. According to his disease course, he was classified into an intermediate form of MSUD. His management was then changed to BCAAs restriction and metabolic monitoring conforming to MSUD. In addition, genetic counseling and prenatal diagnosis were provided to his parents.
CONCLUSION: Our work provides diagnostic experience of an intermediate MSUD case, suggesting that a genetic analysis is important for ambiguous cases, and alerts clinicians to avoid missing patients with non-classic mild phenotypes of MSUD.
AIM: The objective of this study is to evaluate the impact of the MCO on the management of glaucoma patients in a suburban tertiary hospital.
METHODOLOGY: We conducted a cross-sectional study of 194 glaucoma patients between June 2020 and August 2020 in the glaucoma clinic at Hospital Universiti Sains Malaysia. We evaluated the patients' treatment, visual acuity, intraocular pressure (IOP) measurements, and potential signs of progression. We compared the results with those of their last clinic visits prior to the MCO.
RESULTS: We studied 94 (48.5%) male and 100 (51.5%) female glaucoma patients with a mean age of 65 ± 13.7. The mean duration between pre-MCO and post-MCO follow-up was 26.4 ± 6.7 weeks. There was a significant increase in the number of patients with deterioration of visual acuity, and one patient lost his vision after the MCO. There was also a significant elevation of the mean IOP of the right eye: pre-MCO, 16.7 ± 7.8 mmHg, compared to post-MCO, 17.7 ± 8.8 mmHg (p = 0.027). The cup-to-disc ratio (CDR) for the right eye increased significantly from pre-MCO, 0.72 ± 0.18, to 0.74 ± 0.19 post-MCO (p < 0.001). However, there were no significant changes in IOP or CDR in the left eye. Twenty-four patients (12.4%) missed medications during the MCO period, and 35 patients (18%) required additional topical medications due to the progression of the disease. Only one patient (0.5%) required admission due to uncontrolled IOP.
CONCLUSION: Lockdown, as a preventive step in the COVID-19 pandemic, indirectly caused the progression of glaucoma and uncontrolled IOP.
METHODS: This study analyzed 181,190 online reviews under Airbnb listings in Kuala Lumpur, Malaysia, using the structural topic model (STM).
RESULTS: This study identified 21 topics related to Airbnb service and product attributes.
DISCUSSION: The findings show that Airbnb users who stay at entire property are more concerned with the hedonic value of their stay, while those who stay at shared property are more concerned with the utilitarian value. The purposes of the host-guest interaction were also found to differ between these two types of Airbnb accommodations. Regarding the effect of listing prices on users' preferences, findings reveal that those staying at lower-priced rooms were more concerned about the convenience of exploring the surrounding area, while those who stayed at higher-priced rooms were more concerned about the surrounding environment and the interior facilities of the property.
METHODS: A cross-sectional study was conducted among 128 caregivers of children with ASD in Kota Bharu, Kelantan from May to August 2020, using convenience sampling. Validated questionnaires were used to assess the knowledge and attitudes toward children with ASD. The data were analyzed using SPSS version 24. Descriptive statistics and simple and multiple logistic regression analyses were then performed.
RESULTS: The response rate was 100%. The proportion of good knowledge and attitudes toward children with ASD among caregivers was 85.1% and 88.3%, respectively. Factors significantly associated with good knowledge were being female (OR (95% CI) 2.79 [0.99-7.90]) and ASD children being non-first-born children (OR (95% CI) 0.41 [0.15-1.12]). Factors significantly associated with good attitudes were age of 30 years and older (OR (95% CI) 0.13 [0.03-0.62]) and caregiver having other children with other types of learning difficulties (OR (95% CI) 0.15 [0.04, 0.52]).
CONCLUSIONS: The proportion of caregivers with good knowledge of ASD and good attitudes toward children with ASD was high. The caregiver's age and sex, the position of the ASD child among the siblings, and the presence of other types of learning disorders in the family need to be considered when managing children with ASD.
METHODS: The Trypan blue viability assay used to examine cell death. Immunofluorescence assay, glial fibrillary acidic protein (GFAP) was used to portray the morphology of astrocytes. The hypoxia-inducible factor 1 (HIF-1) staining was performed to confirm hypoxia induced cell death and there was a dramatic expression of HIF-1α displayed in exposed astrocyte cells compared to the control. In molecular level, genes were chosen, such as glyceraldehyde 3-phosphate dehydrogenase (GAPDH), GFAP, HIF-1α and B-cell lymphoma 2 (Bcl-2) and ran the reverse transcription-polymerase chain reaction (RT-PCR).
RESULTS: Microscope revealed a filamentous and clear nucleus appearance in a control whereas the rupture nuclei with no rigid structure of the cell were found in the 3% oxygen. The control and hypoxia cells were also stained with the annexin V-fluorescein isothiocyanate (annexin V-FITC). Fluorescence microscope reveals astrocyte cells after hypoxia showed higher expression of nuclei but not in control. Merging PI and FITC showed the differences of nuclei expression between the control and hypoxia. In the molecular analysis, there were significant changes of GFAP, HIF-1α and Bcl-2 in hypoxia exposed cells when compared to the control group.
CONCLUSION: Cells that were exposed to hypoxia (3% oxygen for 15 min) clearly showed damage. General view of human hippocampal astrocyte genomic response to hypoxia was obtained.
METHODS: The study included 141 post-menopausal Malaysian women and 118 young Malaysian women between 18 years old and 32 years old of age. Body composition, bone density, handgrip strength and physical performance were assessed using bio-electrical impedance analyser, calcaneal quantitative ultrasound, hand dynamometer and modified short physical performance battery test, respectively.
RESULTS: There was a higher prevalence of 'low muscle mass' among the younger age group compared to their older counterparts (48 young women [40.0%] versus 44 post-menopausal women [31.2%]). Conversely, there was a higher prevalence of 'obesity' and 'low bone density' among the older age group compared to their younger counterparts. Mean broadband ultrasound attenuation (BUA) for both age groups was ≥ 70.0 dB/MHz. The majority of post-menopausal women had a 'minor functional decline' (40.6%), followed by moderate (28.1%), major (22.7%), severe (6.3%) and the lowest percentage for 'no decline' (2.3%).
CONCLUSION: There was a high prevalence of obesity with poor musculoskeletal health in older Malaysian women, which may lead to frailty and higher incidences of falls and fractures at an advanced age. The screening of musculoskeletal conditions among Malaysian women may aid in early detection of abnormalities and timely intervention.
METHODS: A cross-sectional study was conducted in five schools in Jeddah, Saudi Arabia, among a representative random sample of female adolescent students aged 13 years old-18 years old. A simple random sampling method was used to select the participants. An online self-administered questionnaire, the Arabic version of eating attitude test (EAT-26) and socio-cultural attitudes toward appearance questionnaire (SATAQ-4), was used.
RESULTS: More than half (53.6%) of adolescent girls scored at or above the cut-off point of EAT-26. Around 45% of the participants had experienced family influence on their appearance and body shape, 36.7% had experienced peer influence on these factors, and 49.4% had experienced media influence. Family influence was significantly associated with EDs (P = 0.013).
CONCLUSION: The high prevalence of EDs among female going-school adolescents in Jeddah, Saudi Arabia, is of great concern. To mitigate this problem, effective programmes must be designed to change their dietary habits while considering the effects of family, peer and media influence, as well as focusing on the importance of eating breakfast and practising physical activity.
METHODS: This was a pilot prospective observational study involving 12 pregnant Malay women without any endocrine disorders and on neither antibiotics nor probiotics. Demographic details and anthropometric measurements were obtained, and the faecal 16S ribosomal ribonucleic acid (rRNA) metagenome microbiota of the first and third trimesters (T1 and T3) were analysed. Univariate and multivariate statistics, partial least squares discriminant analysis (PLSDA) and Kendall rank correlation testing were used to identify key genera and associations with pregnancy trimester and body mass index (BMI).
RESULTS: The most abundant phyla were Bacteroidetes, Firmicutes, Proteobacteria and Actinobacteria, with significant differences in composition at the genus level demonstrated between T1 and T3. Sequencing showed a statistically significant difference in beta diversity between normal and abnormal BMI at all taxonomic ranks (R 2 = 0.60; Q 2 = 0.23) and genus levels (R 2 = 0.57; Q 2 = 0.37). The relative abundances of Akkermansia (P < 0.05; false discovery rate [FDR] < 0.05), Olsenella (P < 0.05; FDR < 0.05) and Oscillospira (P < 0.05; FDR < 0.05) were found to be significantly higher in normal BMI cases by 2.4, 3.4 and 3.1 times, respectively.
CONCLUSION: Three genera (Akkermansia, Olsenella and Oscillospira) were correlated with normal BMI during pregnancy. All three could be promising biotherapeutic targets in body weight regulation during pregnancy, subsequently reducing complications associated with higher BMI.
METHODS: We undertook a bibliographic search for studies conducted and published in Malaysia on T2DM adults using the SDSCA scale. This is a two-stage individual participant meta-analysis of SDSCA which synthesised the overall and subscale score based on gender and ethnic groups as well as the correlation between SDSCA and HbA1c.
RESULTS: We examined 11 studies that utilised SDSCA to analyse 3,720 T2DM patients. The overall SDSCA score was 33.46 (47.8% of the 7-day week). The subscale score for general diet, specific diet, exercise, blood glucose self-monitoring and foot care were 4.80, 4.09, 2.87, 1.80 and 3.21, respectively. A small but statistically significant better self care in some gender or ethnic groups was noted. The SDSCA diet subscale and HbA1c showed statistically significant correlation.
CONCLUSION: The finding suggested Malaysian T2DM patients were deficient in exercise and blood glucose self-monitoring. In fact, overall self care among Malaysian adult T2DM patients appears to be suboptimal across gender and the three main ethnic groups. Greater efforts are therefore needed to educate Malaysian adult T2DM patients to improve their self care practices.
METHODS: The antioxidant properties were analysed using 2,2'-diphenyl-1 picrylhydrazyl (DPPH), ferric reducing antioxidant potential (FRAP) and 2,2'-azinodi 3-ethylbenthiazolinesulfonate (ABTS) assays. Cytotoxicity was assayed using the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) test and the induction of apoptosis was observed via caspase-3/7 activity assay. The identification of phenolic compounds was done via ultra-high-performance-liquid chromatography coupled to mass spectrometer (UHPLC-MS/MS).
RESULTS: The antioxidant analysis exhibited: the half inhibitory concentration (IC50) of DPPH inhibition, 54.10 (SD = 4.51) μg/mL; the FRAP value, 30.07 (SD = 0.93) mM TEQ/100 g; and the ABTS value, 131.79 (SD = 8.73) mg TEQ/100 g. Cinnamic acid was the most abundant phenolic compound, followed by maleic acid and salicylic acid. The IC50 for ORL115 and ORL188 were 35.51 mg/mL and 43.54 mg/mL, respectively. The cells became rounded and dissymmetrical which reduced in number and size. The apoptotic cell death in ORL115 and ORL188 was deduced as caspase-3/7 activities that significantly increased (P < 0.05).
CONCLUSION: The study evidenced that the antioxidant activity of MTJ could influence the induction of apoptosis in ORL115 and ORL188 in future investigations and verifications.