Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.

Chromosomal abnormality is one of the causes of congenital disorders among newborns. Despite aneuploidy being the major cause of first trimester miscarriages, very few aneuploidies such as trisomies of chromosomes 13, 18 and 21 survive to birth. The results of 4,064 patients referred for cytogenetic analysis at Human Genome Centre, Universiti Sains Malaysia, Kelantan, Malaysia between 2008 and 2019 were reviewed. We retrospectively investigated the karyotype patterns, clinical features and parental ages of the three common live-born autosomal trisomies such as trisomy 13, trisomy 18 and trisomy 21. The relative frequency of cases with the total sample received and cultured was calculated in each group and compared with those reported elsewhere. Between 2008 and 2019, a total of 1034 live-born trisomic cases which accounted for 25.4% of the 4064 total referred cases and 73.7% of 1403 suspected trisomy cases, were identified, with age ranging from newborns to 57 years. Down syndrome was the commonest aneuploidy (857 cases; 21.1%) followed by Edwards syndrome (133 cases; 3.3%) and Patau syndrome (44 cases; 1.1%). The number of diagnosed cases for each of the trisomies was fairly stable from year to year. About two-thirds of both maternal and paternal ages were ≥ 35 years. This is the first cytogenetic report on the common live-born autosomal trisomies in the North-Eastern region of Malaysia. The prevalence of trisomies 21 was found to be higher compared to an earlier study in the North-Western region of Malaysia, wherein also, advanced maternal age was a significant risk factor.

Physicochemical characteristics of liposome encapsulation of stingless bees' propolis.

Nutraceuticals from natural sources have shown potential new leads in functional food products. Despite a broad range of health-promoting effects, these compounds are easily oxidized and unstable, making their utilization as nutraceutical ingredients limited. In this study, the encapsulated stingless bees' propolis in liposome was prepared using soy phosphatidylcholine and cholesterol by thin-film hydration technique. Three different formulations of phosphatidylcholine composition and cholesterol prepared by weight ratio was conducted to extract high propolis encapsulation. Physicochemical changes in the result of the encapsulation process are briefly discussed using scanning electron microscopy and Fourier Transform Infrared Spectroscopy. A dynamic light-scattering instrument was used to measure the hydrodynamic diameter, polydispersity index, and zeta potential. The increment of the liposomal size was observed when the concentration of extract loaded increased. In comparing three formulations, F2 (8:1 w/w) presented the best formulation as it yielded small nanoparticles of 275.9 nm with high encapsulation efficiency (66.9%). F1 (6:1 w/w) formed large particles of liposomes with 422.8 nm, while F3 (10:1 w/w) showed low encapsulation efficiency with (by) 38.7%. The liposome encapsulation will provide an effective nanocarrier system to protect and deliver the flavonoids extracted from stingless bees' propolis.

Comparison of cataract surgery refractive outcomes in a tertiary hospital and an outreach cataract service centre.

OBJECTIVE: The aim of this study was to compare the postoperative refractive outcome after cataract surgery between a hospital-based and an outreach-based cataract service centre. METHODS: This study was conducted at the Hospital Selayang (HS), Selangor, Malaysia, a tertiary referral centre and an outreach-based cataract service centre (Pusat Pembedahan Katarak MAIWP, PPKM). Data was sourced from the Cataract Surgery Registry (CSR) in the National Eye Database (NED). RESULTS: A total of 2318 surgeries were analysed. PPKM achieved postoperative refraction outcome within ±1.0D in 94.3% of cases compared with 88.4% in Selayang Hospital. Mean absolute prediction error was also better in PPKM (0.39±0.27D vs. 0.33±0.24D, p<0.001). Multivariate analysis showed that the tertiary hospital, persons of Chinese ethnicity, history of uveitis, previous history of ocular surgery and intraoperative complications as significant independent predictive factors for poor refractive outcomes. CONCLUSION: The outreach-based cataract service centre, which incorporates streamlined process designs and workflows, achieved superior refractive outcomes within ±1 dioptre after cataract surgery compared to a tertiary hospital.

Vision impairment and cognitive function among urban-dwelling malaysians aged 55 years and over from the Malaysian Elders Longitudinal Research (MELoR) study.

INTRODUCTION: Published literature on vision impairment and cognitive function amongst older Malaysians remains scarce. This study investigates the association between vision impairment and cognitive function in an older Malaysian population. METHODS: Subjects aged 55 years and above from the Malaysian Elders Longitudinal Research (MELoR) study with available information on vision and Montreal Cognitive Assessment (MoCA) scores were included. Data were obtained through a home-based interview and hospital-based health check by trained researchers. Visual acuity (VA) was assessed with logMAR score with vision impairment defined as VA 6/18 or worse in the better-seeing eye. Cognition was evaluated using the MoCA-Blind scoring procedure. Those with a MoCA-Blind score of <19/22 were considered to have cognitive impairment. RESULTS: Data was available for 1144 participants, mean (SD) age = 68.57 (±7.23) years. Vision impairment was present in 143 (12.5 %) and 758 (66.3 %) had MoCA-Blind score of <19. Subjects with vision impairment were less likely to have a MoCA-Blind score of ≥19 (16.8 % vs 36.2 %, p < 0.001). Vision impairment was associated with poorer MoCA-Blind scores after adjustments for age, gender, and ethnicity (ß = 2.064; 95 % CI, -1.282 to 3.320; P = 0.003). In those who had > 6 years of education attainment, vision impairment was associated with a significant reduction of cognitive function and remained so after adjustment for age and gender (ß = 1.863; 95 % CI, 1.081-3.209; P = 0.025). CONCLUSION: Our results suggest that vision impairment correlates with cognitive decline. Therefore, maintaining good vision is an important interventional strategy for preventing cognitive decline in older adults.

Cerebral white matter microstructural changes in isolated maxillofacial trauma and associated neuropsychological outcomes.

Isolated traumatic maxillofacial injury without concomitant brain injury may cause delayed post-concussive symptoms. Early identification allows optimal diagnosis, prognostication, and therapeutic intervention. The aim of this prospective observational study was to investigate longitudinal microstructural changes of the white matter (WM) tracts based on diffusion tensor imaging (DTI) indices in patients with isolated maxillofacial injuries, immediately and 6 months post-trauma, and to correlate these DTI indices with neuropsychological changes observed. Twenty-one patients with isolated maxillofacial injuries and 21 age-matched controls were recruited. DTI was performed and indices were calculated for 50 WM tracts. The neuropsychological evaluation was done using the screening module of the Neuropsychological Assessment Battery. Patients were subjected to repeat DTI and neuropsychological evaluation at 6 months post-trauma. Reduced fractional anisotropy (FA) and increased median (MD) and radial diffusivity (RD) in the acute phase were seen in major association, projection, and commissural fibre bundles, indicative of vasogenic oedema. These changes correlated with attention and executive function deficits in the acute phase, as well as improvement in memory and visuospatial function in the chronic phase. Isolated maxillofacial trauma patients develop WM microstructural damage, which may impair cognitive performance acutely and over time. DTI indices can serve as predictive imaging biomarkers for long-term cognitive deficits in isolated maxillofacial injuries.

Recurrent bilateral eyelid and conjunctival granulomatosis in Churg-Strauss syndrome.

A 47-year-old woman with poorly controlled asthma and allergic rhinitis presented with recurrent episodes of bilateral upper eyelid swelling associated with forniceal conjunctival mass for the past 10 years. Routine blood investigations showed raised IgE levels and raised eosinophil counts. The diagnosis of Churg-Strauss syndrome (CSS) was made following biopsy of the conjunctival mass. The symptoms responded well to oral steroid treatment but recurred following cessation of the therapy. The patient was co-managed with a rheumatologist and the patient currently remains stable and is on oral Methotrexate and low dose oral steroids. Ocular involvement in CSS is unusual but this unique presentation of CSS was successfully managed, and the patient remains in remission.

Microstructural abnormalities found in uncinate fasciculus and superior cerebellar tracts in children with global developmental delay: a feasibility study.

AIM: To evaluate the microstructural abnormalities of the white matter tracts (WMT) using diffusion tensor imaging (DTI) in children with global developmental delay (GDD). MATERIALS AND METHODS: Sixteen children with GDD underwent magnetic resonance imaging (MRI) and cross-sectional DTI. Formal developmental assessment of all GDD patients was performed using the Mullen Scales of Early Learning. An automated processing pipeline for the WMT assessment was implemented. The DTI-derived metrics of the children with GDD were compared to healthy children with normal development (ND). RESULTS: Only two out of the 17 WMT demonstrated significant differences (p<0.05) in DTI parameters between the GDD and ND group. In the uncinate fasciculus (UF), the GDD group had lower mean values for fractional anisotropy (FA; 0.40 versus 0.44), higher values for mean diffusivity (0.96 versus 0.91×10-3 mm2/s) and radial diffusivity (0.75 versus 0.68×10-3 mm2/s) compared to the ND group. In the superior cerebellar peduncle (SCP), mean FA values were lower for the GDD group (0.38 versus 0.40). Normal myelination pattern of DTI parameters was deviated against age for GDD group for UF and SCP. CONCLUSION: The UF and SCP WMT showed microstructural changes suggestive of compromised white matter maturation in children with GDD. The DTI metrics have potential as imaging markers for inadequate white matter maturation in GDD children.

Slaughterhouses sustainability analysis in special capital region of Jakarta Province, Indonesia.

AIM: The objective of this research was understanding slaughterhouses sustainability and the prospection status in special region of Jakarta Province Indonesia. MATERIALS AND METHODS: The concept of sustainable slaughterhouse was formed based on social, economy, ecology, technology, and institutional dimension. Research objects were three types of slaughterhouses in Special Capital Region of Jakarta Indonesia; pig slaughterhouse, chicken slaughterhouse, and ruminant slaughterhouse. Tools used were questionnaires to assess the perception of people living around slaughterhouses, assessment of the knowledge, attitude, and practice from slaughterhouse management, along with assessment and focus group discussion for sustainability test. Methods used were descriptive analysis and sustainability test by multidimensional scaling method. Data collected consisted of primary and secondary data. Primary data were obtained by field survey, interview, questionnaire, measurement of the waste threshold, and microbe contamination, whereas secondary data were obtained from slaughterhouse agency. Data were analyzed with IBM statistical package for the social sciences (SPSSÒ) version 18 to calculate characteristic, variables correlation, sustainability test with RapfishÒ modified into Rap slaughterhouse, and prospective analysis with PPA. RESULTS: The level of sustainability for pig slaughterhouse was moderately sustainable with 0.5173 index value, ruminant slaughterhouse was moderately sustainable with 0.5171 index value, and chicken slaughterhouse was moderately unsustainable with 0.4530 index value. CONCLUSION: Scenario on policies that should be applied in ruminant slaughterhouse was increasing the use of waste as biogas; for chicken slaughterhouse was increasing promotion and for pig slaughterhouse was increasing product quality control. The implication of this research was to provide input based on a scientific study for the local government of Jakarta in managing the slaughterhouses.

Diagnostic Efficacy of Synthesized 2D Digital Breast Tomosynthesis in Multi-ethnic Malaysian Population.

Synthesized 2D images can be reconstructed from tomosynthesis images in breast imaging. This study aims to investigate the diagnostic efficacy of synthesized 2D images (C-View) in comparison to full field digital mammography (FFDM) when used with digital breast tomosynthesis (DBT) in multi-ethnic Malaysian population. FFDM and C-View images (n = 380) were independently evaluated by three readers through Breast Imaging Reporting and Data System (BI-RADS) categorisation, breast density and lesion characterisation. Statistical analysis was done comparing sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of C-View + DBT with FFDM + DBT as standard of reference. Very good interreader agreement in BI-RADS category and density assessment between C-View + DBT and FFDM + DBT, with high sensitivity, specificity, PPV and NPV of C-View + DBT when compared with FFDM + DBT. There was comparable PPV between C-View + DBT and FFDM + DBT, with histopathology as gold standard. High level of interreader agreement in BI-RADS category and density assessment for FFDM + DBT and C-View + DBT. There was good agreement between FFDM + DBT and C-View + DBT in mass characterization, and almost perfect agreement in calcification and asymmetric density. 52.2% lower radiation dose incurred when using C-View + DBT. Hence, synthesized 2D images are comparable to FFDM with reduction in radiation dose within the limits of Malaysian multi-ethnic population.

Neuroimaging in refractory epilepsy. Current practice and evolving trends.

Identification of the epileptogenic zone is of paramount importance in refractory epilepsy as the success of surgical treatment depends on complete resection of the epileptogenic zone. Imaging plays an important role in the locating and defining anatomic epileptogenic abnormalities in patients with medically refractory epilepsy. The aim of this article is to present an overview of the current MRI sequences used in epilepsy imaging with special emphasis of lesion seen in our practices. Optimisation of epilepsy imaging protocols are addressed and current trends in functional MRI sequences including MR spectroscopy, diffusion tensor imaging and fusion MR with PET and SPECT are discussed.

Usage of Traditional and Complementary Medicine (T & CM): Prevalence, Practice and Perception among Post Stroke Patients Attending Conventional Stroke Rehabilitation in A Teaching Hospital in Malaysia.

INTRODUCTION: The lack of evidence that proves the benefit of traditional and complementary medicines (T & CM) in treating chronic medical conditions does not deter its usage among patients worldwide. Prevalence of usage among post-stroke patients in Malaysia especially is unknown. This study aims to determine the prevalence, practice and perception of T & CM use among stroke survivors attending an outpatient rehabilitation program in a teaching hospital. METHODS: A cross-sectional study was conducted among 104 post stroke patients attending an outpatient rehabilitation program. A structured self-administered questionnaire was used to collect data on sociodemographic and clinical profile of patients, as well as types of therapy used and perception on T & CM usage. Descriptive analysis was done, and bivariate analysis was used to determine associations between categorical data. RESULTS: Mean age of patients was 62 years (SD 12.2), 54% were Chinese and 75% of the patients had ischaemic stroke. Mean age of T & CM users was younger compared to non- T & CM users (61 years vs. 66 years, p=0.04). Two-thirds (66%) of patients admitted to concurrent T & CM usage while attending conventional post stroke rehabilitation. Acupuncture (40.4%), massage (40.4%) and traditional Chinese medicine (11.5%) were the most common T & CM used. Positive perception was recorded in terms of ability of T & CM usage to relieve post stroke symptoms (68%), and it was safe to use because it was made from 'natural sources'. Negative perception recorded: T & CM caused significant adverse effects (57.6%) and was not safe to be used in combination with other conventional medicines (62.5%). CONCLUSIONS: Concurrent T & CM usage among post-stroke patients attending structured outpatient rehabilitation program is widely practised especially acupuncture, massage and traditional Chinese medicines. Overall the perception towards its use is favourable.

Differentiating multiple-system atrophy from Parkinson's disease.

The purpose of this review is to illustrate the differentiating features of multiple-system atrophy from Parkinson's disease at MRI. The various MRI sequences helpful in the differentiation will be discussed, including newer methods, such as diffusion tensor imaging, MR spectroscopy, and nuclear imaging.

Glaucoma severity affects diffusion tensor imaging (DTI) parameters of the optic nerve and optic radiation.

OBJECTIVES: To evaluate whether MR diffusion tensor imaging (DTI) of the optic nerve and optic radiation in glaucoma patients provides parameters to discriminate between mild and severe glaucoma and to determine whether DTI derived indices correlate with retinal nerve fibre layer (RNFL) thickness. METHODS: 3-Tesla DTI was performed on 90 subjects (30 normal, 30 mild glaucoma and 30 severe glaucoma subjects) and the FA and MD of the optic nerve and optic radiation were measured. The categorisation into mild and severe glaucoma was done using the Hodapp-Parrish-Anderson (HPA) classification. RNFL thickness was also assessed on all subjects using OCT. Receiver operating characteristic (ROC) analysis and Spearman's correlation coefficient was carried out. RESULTS: FA and MD values in the optic nerve and optic radiation decreased and increased respectively as the disease progressed. FA at the optic nerve had the highest sensitivity (87%) and specificity (80%). FA values displayed the strongest correlation with RNFL thickness in the optic nerve (r=0.684, p ≤ 0.001) while MD at the optic radiation showed the weakest correlation with RNFL thickness (r=-0.360, p ≤ 0.001). CONCLUSIONS: The high sensitivity and specificity of DTI-derived FA values in the optic nerve and the strong correlation between DTI-FA and RNFL thickness suggest that these parameters could serve as indicators of disease severity.

MRI of optic tract lesions: review and correlation with visual field defects.

Visual field defects are a conglomerate of patterns of visual impairment derived from diseases affecting the optic nerve as it extends from the globe to the visual cortex. They are complex signs requiring perimetry or visual confrontation for delineation and are associated with diverse aetiologies. This review considers the chiasmatic and post-chiasmatic causes of visual disturbances, with an emphasis on magnetic resonance imaging (MRI) techniques. Newer MRI sequences are considered, such as diffusion-tensor imaging. MRI images are correlated with perimetric findings in order to demonstrate localization of lesions in the visual pathway. This may serve as a valuable reference tool to clinicians and radiologists in the early diagnostic process of differentiating causes of various visual field defects in daily practice.

Salivary trace elements in relation to dental caries in a group of multi-ethnic schoolchildren in Shah Alam, Malaysia.

AIM: To assess the salivary levels of Copper (Cu), Zinc (Zn), Manganese (Mn) and Iron (Fe) obtained from children of different ethnic backgrounds in Shah Alam, Malaysia and investigate the possible relationships with caries. MATERIALS AND METHODS: One hundred and twenty primary school children were included. They were divided into caries and caries-free groups. Unstimulated whole saliva was collected from each participant using spitting method. The salivary elements were measured using an Atomic Absorption Spectrophotometer. Descriptive statistics, bivariate and Pearson's correlation analysis were performed. RESULTS: Salivary Cu and Zn levels were significantly higher in children with dental caries compared to those caries-free (p < 0.05). Moreover, these elements had a positive correlation with dental caries (Cu: r=0.698, p<0.001; Zn: r=0.181, p<0.05). No significant variations in Mn and Fe were observed between caries and caries-free group (p>0.05). Additionally, there were significant differences in salivary Zn and Fe among different age groups (p<0.05) and highly significant differences in salivary Cu, Mn and Fe among different ethnic groups (p<0.001). However, all elements exhibited no significant differences between males and females. CONCLUSION: The salivary Cu and Zn levels showed significant differences between caries and caries-free groups. The findings also revealed significant variations in the levels of salivary Cu, Mn and Fe among different ethnic groups and salivary Zn and Fe among different age groups.

Periodic lateralized epileptiform discharges (PLEDs) in cerebral lupus correlated with white-matter lesions in brain MRI and reduced cerebral blood flow in SPECT.

This is a case report on an uncommon correlation between periodic lateralized epileptiform discharges (PLEDs) and white-matter lesions in cerebral lupus, and with a reduced cerebral blood flow (CBF) in single-photon emission computed tomography (SPECT). A 47-year-old woman with a long-term history of systemic lupus erythematosus (SLE) presented with a seizure followed by frontal lobe dysfunction clinically. An electroencephalogram (EEG) showed bilateral independent PLEDs in the frontal region. A magnetic resonance image of the brain showed white-matter changes in the frontal periventricular region. Cerebral angiogram did not reveal any evidence of vasculitis. A cerebral SPECT with tracer injected during the EEG showing PLEDs showed a reduction in CBF in the frontal regions. Clinical recovery was observed with intravenous immunoglobulin. This case shows that PLEDs can be seen with white-matter changes in SLE.

Low nocturnal ocular perfusion pressure as a risk factor for normal tension glaucoma.

OBJECTIVES: In the absence of raised intraocular pressure (IOP), haemodynamic parameters have been implicated in the development of normal tension glaucoma (NTG). The purpose of this study is to compare 24-hour IOP and haemodynamic parameters in NTG patients and non-glaucoma patients. METHODS: This is a cross sectional study involving 72 NTG patients from University of Malaya Medical Centre eye clinic glaucoma registry. The non-glaucoma patients were volunteers selected from eye clinic patients. All enrolled patients underwent 24-hour IOP and blood pressure monitoring via 2-hourly IOP and blood pressure (BP) measurements. All readings were taken in the sitting position during the diurnal period and in the supine position during the nocturnal period RESULTS: Comparison of the haemodynamic parameters, the nocturnal mean systolic BP, nocturnal mean diastolic BP and nocturnal mean arterial pressure (MAP) were significantly lower in the NTG group. The systemic ocular perfusion pressures (OPP), diastolic OPP and mean OPP taken at night were also significantly lower in the NTG group. The differences between the groups were still manifest after controlling for age and presence of hypertension. CONCLUSION: Our findings show that the nocturnal supine blood pressure parameters (systolic, diastolic and mean) and OPP were significantly lower in the NTG group compared to normals. This may reflect defective autoregulatory mechanisms in NTG patients.

Quantification of diffusion tensor imaging in normal white matter maturation of early childhood using an automated processing pipeline.

OBJECTIVES: The degree and status of white matter myelination can be sensitively monitored using diffusion tensor imaging (DTI). This study looks at the measurement of fractional anistropy (FA) and mean diffusivity (MD) using an automated ROI with an existing DTI atlas. METHODS: Anatomical MRI and structural DTI were performed cross-sectionally on 26 normal children (newborn to 48 months old), using 1.5-T MRI. The automated processing pipeline was implemented to convert diffusion-weighted images into the NIfTI format. DTI-TK software was used to register the processed images to the ICBM DTI-81 atlas, while AFNI software was used for automated atlas-based volumes of interest (VOIs) and statistical value extraction. RESULTS: DTI exhibited consistent grey-white matter contrast. Triphasic temporal variation of the FA and MD values was noted, with FA increasing and MD decreasing rapidly early in the first 12 months. The second phase lasted 12-24 months during which the rate of FA and MD changes was reduced. After 24 months, the FA and MD values plateaued. CONCLUSION: DTI is a superior technique to conventional MR imaging in depicting WM maturation. The use of the automated processing pipeline provides a reliable environment for quantitative analysis of high-throughput DTI data. KEY POINTS: Diffusion tensor imaging outperforms conventional MRI in depicting white matter maturation. • DTI will become an important clinical tool for diagnosing paediatric neurological diseases. • DTI appears especially helpful for developmental abnormalities, tumours and white matter disease. • An automated processing pipeline assists quantitative analysis of high throughput DTI data.

Ptosis due to cavernous sinus syndrome as a rare presentation of advanced breast metastasis in a patient with delayed diagnosis.

Complications of breast cancer metastasis may be the first manifestation of the disease. We report a rare case of left eye ptosis secondary to cavernous sinus syndrome in a 34-year-old lady due to refusal of proper medical treatment for metastatic breast cancer. The delay in seeking medical treatment was attributed to her use of Traditional Chinese Medicine (TCM).