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Glaucoma is the largest cause of irreversible blindness with a multifactorial genetic etiology. This study explores novel genes and gene networks in familial forms of primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) to identify rare mutations with high penetrance. Thirty-one samples from nine MYOC-negative families (five POAG and four PACG) underwent whole-exome sequencing and analysis. A set of prioritized genes and variations were screened in an independent validation cohort of 1536 samples and the whole-exome data from 20 sporadic patients. The expression profiles of the candidate genes were analyzed in 17 publicly available expression datasets from ocular tissues and single cells. Rare, deleterious SNVs in AQP5, SRFBP1, CDH6 and FOXM1 from POAG families and in ACACB, RGL3 and LAMA2 from PACG families were found exclusively in glaucoma cases. AQP5, SRFBP1 and CDH6 also revealed significant altered expression in glaucoma in expression datasets. Single-cell expression analysis revealed enrichment of identified candidate genes in retinal ganglion cells and corneal epithelial cells in POAG; whereas for PACG families, retinal ganglion cells and Schwalbe’s Line showed enriched expression. Through an unbiased exome-wide search followed by validation, we identified novel candidate genes for familial cases of POAG and PACG. The SRFBP1 gene found in a POAG family is located within the GLC1M locus on Chr5q. Pathway analysis of candidate genes revealed enrichment of extracellular matrix organization in both POAG and PACG.

Spinocerebellar ataxias (SCAs) comprise a group of complex and heterogeneous hereditary neurodegenerative disorders characterized by cerebellar ataxia, with ophthalmoplegia, pyramidal and extrapyramidal features, peripheral neuropathy, motor neuron disease, pigmentary retinopathy, epilepsy, and dementia in varying proportions. Cognitive impairment is not frequent in SCAs but is rarely noticed since it gets camouflaged behind the exorbitant ataxic manifestations of the disease. The exact incidence and extent of cognitive impairment in these rare disorders are not known due to the heterogeneity between different SCA types and different modalities of testing employed in different studies. Through our review, we have summarized the cognitive aspects of SCA and can safely conclude that cognitive dysfunction is common in some SCA types when compared to others. Not only is it important to appreciate its presence as a symptom complex in SCA but also is the need to actively search and treat it to improve the patients' quality of life.

Approximately 80% genes have an active expression in the brain and 40% of known genetic disorders affect the central nervous system. Revolutionary techniques like next-genome sequencing have solved the problem of the diagnostic odyssey in neurological genetic diseases. As several studies have shown the cost-effectiveness of next-genome sequencing compared to the older tests available in our diagnostic armamentarium, it becomes imperative to know about these genetic mutations and the tests available to diagnose them. We have tried to explain the basic concepts of genetics, the selection of available tests and their interpretation for neurophysicians.

Background and purpose The apolipoprotein E (APOE) e4 allele has been considered as an important gene variant which may lead to elevated level of cholesterol and thereby related with higher risk of ischemic stroke (IS). The present study was undertaken to investigate the relationship of APO-e4 gene polymorphism with the risk of IS in North Indian population. Methods A total of 250 IS subjects and 250 gender and age matched control subjects were included from inpatient and outpatient Department of Neurology, All India Institute of Medical Sciences, New Delhi, India from period of October 2012 to November 2014. Results The average age and standard deviation was 52.8 ± 12.6 years for IS cases and for control subjects 50.9 ± 12.7 years. A significant association was found between APO-e4 gene polymorphism and IS risk under dominant model (adjusted OR, 2.67; 95% CI, 1.49 to 4.77), recessive model (unadjusted OR, 3.33; 95% CI, 1.33 to 8.30) and allelic model (OR, 2.31; 95% CI, 1.65 to 3.22) for overall stroke. Further carrying out stratified analysis as per TOAST classification, demonstrated a significant association for Large Vessel Disease (LVD) under recessive model was observed. Conclusion The present study suggests that APO-e4 gene variant may be an important genetic risk factor for IS. Further large genome wide studies are needed to validate the present findings.

The purpose of this paper is to investigate the kinematic performance of students’ racing car, namely UTeM’s FV Malaysia Electric Vehicle. An elasto-kinematic analysis approach is used to predict the car’s performance during straight line drive and curvature drive. Two suspension design factors involved in this analysis are toe and camber. The kinematic analysis is iterated using the multibody dynamics simulation. The suspension performance is then compared to the standard SLA suspension. The result shows that the front suspension design does not follow the good C shaped toe and camber curves for the SLA suspension type. However, the suspension design of the rear suspension performs well as it follows the good SLA performance curve.

The evolution of computer aided design (CAD) systems and related technologies has promoted the development of software for the east of chassis modeling. It visualizes the main outputs of the model, which consist in numeric data and graphic elements. This reduces the simulation time dramatically and enables the optimization process to come to successful results. This paper presents an electric car chassis design by using the commercial design software package, CATIA V5 R19. The design of the chassis with adequate stiffness and strength is the aim of this project. The material used is mild steel AISI 1018 with 386 MPa of yield strength and 634 MPa of ultimate strength. The result shows that the critical point of stress and displacement occurred in the middle of the side members in all loading conditions, maximum stresses are below the yield stress. The final products for the design have been fabricated successfully. Keywords: Electric car, chassis design, CATIA V5 R19, Stress analysis, load analysis

Natural rubber (NR) latex is widely used in the manufacture of thin film barrier products such as gloves and condom. However, due to its low Tg, film casted from NR latex is soft and tacky, and needed to be strengthened to produced high performance products. Films of prevulcanized natural rubber latex (PVNR) blended with nanosized copolymer of n-butyl acrylate/butyl methacrylate (BA/BMA) were prepared at three different ratios of acrylate copolymer: PVNR. The tensile strength and elongation at break of films prepared decreased with increasing ratios of acrylate copolymer:PVNR. FESEM images showed the occurrence of agglomeration of the acrylate copolymers with PVNR molecules. The degree of agglomeration of the blended molecules increased with percentages of copolymer added. The decrease in the tensile strength and elongation at break may due to the agglomeration of the blended molecules suggesting poor dispersion and/or destabilization of PVNR molecules.

National fuel use in Malaysia is on the rise, so are its subsidies, which take a large chunk of national annual budgets. This study concerns drag reduction efforts, which are related to vehicle efficiencies by way of aerodynamics effects. The study supports the national agenda of reducing fuel use. By using the computational fluid dynamic (CFD) method, we found that the total fuel consumption contributed by the wind resistance with regard to engine thermal efficiency is 14.22% and the skin friction has minimal impact on the fuel consumption. We also found a certain boundary layer that develops over the complex surface of the car. This study benefits the local automotive industry by way of sharing the information of aerodynamic effects of a sport car.