Shuya Chen

Association of TNF-α gene polymorphisms with systemic lupus erythematosus in Taiwanese patients

Tumour necrosis factor-α (TNF-α), an important proinflammatory cytokine, exerts a variety of physiological and pathogenic effects that lead to tissue destruction. Studies on the association of TNF-α genetic polymorphisms with systemic lupus erythematosus (SLE) have yielded inconclusive results. We investigated the association of TNF-α genetic polymorphisms (−1031T/C, −863C/A, −857T/C, −308A/G and +489A/G) with SLE in Taiwanese patients and controls. Our results indicate that 1) the frequency of the A-allele at −863 position was significantly higher in SLE patients (odds ratio = 1.46; 95% CI = 1.02–2.08); 2) the frequency of the A-allele at +489 position was significantly higher in SLE patients (odds ratio = 1.79; 95% CI = 1.21–2.65); 3) the AA or GA genotype frequencies at +489 position were significantly increased in SLE patients (AA genotype: odds ratio = 11.20; 95% CI = 1.36–92.55; GA genotype: odds ratio = 1.63; 95% CI = 1.03–2.58); 4) no significant association of TNF-α haplotypic distributions was observed, except for the haplotypes TCCGA, CACGA and CCCGG; and 5) the genotype frequency of the polymorphisms at −1031 was significantly different in patients with antinuclear antibodies (P = 0.022). The allele and genotype frequencies of the polymorphisms at −863 were not significantly different. The genotype frequency of the polymorphisms at −857 was significantly different in patients with haematological disorder (P = 0.025). The frequency of A allele of the polymorphisms at −308 was significantly increased in patients with malar rash (P = 0.033), discoid rash (P = 0.023), photosensitivity (P = 0.037), oral ulcers (P = 0.002) and serositis (P = 0.029). The genotype frequency of the polymorphisms at +489 was significantly different in patients with discoid rash and photosensitivity (data not shown; discoid rash, P = 0.031; photosensitivity, P = 0.044). These results suggest that TNF-α genetic polymorphisms contribute to SLE susceptibility in the Taiwanese population.

Single nucleotide polymorphism rs2229634 in the ITPR3 gene is associated with the risk of developing coronary artery aneurysm in children with Kawasaki disease

Kawasaki disease (KD) is the most common form of pediatric vasculitis. Though its etiology is unknown, researchers have suggested that it is related to genetics. The inositol 1,4,5‐triphosphate receptor type 3 (ITPR3) gene has a strong association with the development of type 1 diabetes and, plays a critical role in the development of autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, and Graves’ disease. The aim of study is to examine the association of ITPR3 polymorphisms with KD risk in Taiwanese children. This study evaluates the single nucleotide polymorphisms (SNP) rs2229634 in the ITPR3 gene with KD in a case‐control study involving 93 KD patients and 680 healthy, gender‐ and age‐matched controls. The frequency of the rs2229634 T/T genotype was significantly higher in KD patients with coronary artery aneurysm (CAA) than in patients without CAA [odds ratio (OR) = 2.56, 95% confidence interval (95% CI) = 1.35–4.88, P = 0.004]. In addition, KD patients with the T/T genotype elevated mean serum levels of C‐reactive protein compared with patients with the C/C or C/T genotype (12.2 mg dL−1 vs. 8.5 mg dL−1, P = 0.036). In conclusion, the results of this study suggest that the rs2229634 SNP in the ITPR3 gene is associated with the risk of CAA formation in Taiwanese KD patients.

Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions.

Kawasaki disease (KD) is a pediatric systemic vasculitis of unknown etiology wherein genetic influence is suspected. Gene clusters within the HLA region at chromosome 6p21.3 have been linked to KD and other autoimmune disorders. As collagen is a strong autoantigen inducing chronic inflammation in patients with vasculitis, this study tests a hypothesis that single‐nucleotide polymorphism (SNP) of a collagen gene, COL11A2, located in this HLA region may affect susceptibility to Kawasaki disease and its arterial sequels. SNP sites rs2294478 (at promoter) and rs2076311 (at intron 19) were genome‐typed on 93 KD patients and 680 healthy subjects. Genotypic and allelic frequencies analyses found A allele at rs2076311 as a risk allele for KD. Clinical association study showed protective potential of C/C genotype at rs2294478 and A/A at rs2076311 for developing coronary artery lesions (CALs) in patients. In addition, C‐A haplotype of COL11A2 gene associates with KD development and can serve as a genetic marker to differentiate KD patients lacking CALs from those with such lesions. Our findings suggest the involvement of genetic variations of COL11A2 in Kawasaki disease and CAL formation.

Genetic polymorphisms of the DNA repair gene MPG may be associated with susceptibility to rheumatoid arthritis

Rheumatoid arthritis (RA) is a chronic autoimmune disease and can lead to deformities and severe disabilities, due to irreversible damage of tendons, joints, and bones. A previous study indicated that a DNA repair system was involved in the development of RA. In this study, we investigated the association of four N-methylpurine-DNA glycosylase (MPG) gene polymorphisms (rs3176364, rs710079, rs2858056, and rs2541632) with susceptibility to RA in 384 Taiwanese individuals (192 RA patients and 192 control subjects). Our data show a statistically significant difference in genotype frequency distributions at rs710079 and rs2858056 SNPs between RA patients and control groups (P = 0.040 and 0.029, respectively). Our data also indicated that individuals with the GG genotype at rs2858056 SNP may have a higher risk of developing RA. In addition, compared with the haplotype frequencies between case and control groups, individuals with the GCGC haplotype appeared to be at a greater risk of RA progression (P = 0.003, OR = 1.75; 95% CI = 1.20–1.55). Our results suggest that rs710079 and rs2858056 polymorphisms and the GCGC haplotype in theMPG gene are associated with the risk of RA progression, and thus may be used as molecular markers of RA if they are confirmed by further research.

Virtual reality for post-stroke shoulder-arm motor rehabilitation: Training system & assessment method

Stroke is one of the major diseases around the world. The brain injury caused by stroke will derive sustaining neurological disorder of different forms, which in turn will lead to all kinds of limb and body exercise hindrance and will cause significant challenge to the life of the patient, that is, the quality of life of the patient is going to be strictly affected. Along with the development and popularity of technology, scholars in the medical care and rehabilitation fields are trying to integrate all kinds of new technologies to perform the development of new rehabilitation training system. This research aims at rehabilitation items of upper limbs, which include the reciprocating stretching of upper limb, reaching of the upper arm, bi-lateral coordination and balance of the body. In association with interactive technology, game technology, sensor technology and stereo image technology, virtual reality physical-based training task is developed, and initial pilot test is done on patient with stroke, meanwhile, multi-dimensional experimental results are acquired, which include clinical test assessment, task performance, historical data of exercise track and psychological emotional data. The research objectives are to verify the functionality of the system, to verify the effectiveness of the system on rehabilitation, to develop new assessment method and to investigate topics related to human machine interaction. The experimental results have verified the functionality of this rehabilitation training task in all aspects. Through the exercise analysis of the historical data of exercise track and the statistical analysis of task performance of the past therapy sessions, this system can acquire successfully reliable and valuable information to be used for future verification of medical therapeutic effectiveness and the development of new type of clinical assessment method. In the mean time, according to the measured psychological emotional data as perceived subjectively, this system indeed can urge the patient to engage continuously rehabilitation therapeutic session that is based on this training system and enjoy it, besides, the authors are very confident on the possibly generated rehabilitation effect of these two training tasks.

Interactive 3-dimensional virtual reality rehabilitation for patients with chronic imbalance and vestibular dysfunction

BACKGROUND Chronic imbalance is common in patients with vestibular dysfunction. Vestibular rehabilitation is effective in improving upright balance control. Vestibular rehabilitation exercises, such as Cawthorne-Cooksey exercises, include simple repetitive movements and have limited feedback and adaptive training protocols. Interactive systems based on virtual reality (VR) technology may improve vestibular rehabilitation. OBJECTIVE The objective of this study was to examine the effectiveness of an interactive 3-dimensional VR system for vestibular rehabilitation. METHODS In 49 subjects with vestibular dysfunction, VR rehabilitation exercises were performed in 6 sessions. Before and after rehabilitation, subjects were evaluated for performance of the training exercises; the center of pressure was measured for 20 seconds and balance indices were determined. RESULTS Five training scores (total 6) showed a significant improvement. For balance indices in condition of non-stimulation, all of them (total 5) showed a trend of improvement, in which there was a significant improvement in mean mediolateral. For balance indices in condition of post-stimulation, there was a significant improvement in statokinesigram and maximum mediolateral. CONCLUSIONS The VR rehabilitation exercises were effective in improving upright balance control in patients with vestibular dysfunction.

Automate Virtual Reality Rehabilitation Evaluation for Chronic Imbalance and Vestibular Dysfunction Patients

Dizziness is a major consequence of chronic imbalance and vestibular dysfunction, which prevents people performing their routine tasks and affects their quality of life. It may lead to severe injuries caused by unexpected falling. Medicine treatment can alleviate the syndrome of dizziness and past research shows that dizziness can be further reduced if appropriate vestibular function rehabilitation exercises are practiced regularly. Nevertheless, these exercises are usually time-consuming and tedious because of repetitive motions. Most of patients ceases practicing accordingly and reduce the effectiveness of rehabilitation. In order to encourage patients to be involved in the rehabilitation process, interactive rehabilitative gaming systems are introduced in the recent research. Virtual reality technology is used to enhance the gaming experiences and vision sensors are served as gaming inputs. This paper proposes a series of novel virtual reality games adapted by Cawthorne-Cooksey exercises, which are extensively used in clinical for chronic imbalance and vestibular dysfunction rehabilitation. 32 patients participate in the rehabilitation processes within two months period and their gaming parameters and quantified balance indices are analyzed by the supported vector machine (SVM) classifier. It shows that ~81 % patients improve their game parameters and balance indices after undertaking the dizziness rehabilitation training compared to the measurement they had. Our clinical observations also reveal that our patients have higher willing and motivation to regularly perform rehabilitation with the proposed system.

Usability of a Low-Cost Wearable Health Device for Physical Activity and Sleep Duration in Healthy Adults

For public health and epidemiology, an understanding of physical activity and sleep duration is important. People found decreased physical activity and short sleep duration as they aged. The development of healthy behaviors in the early life will ensure a better quality of late life. Innovated health devices, such as wearable sensors may provide a solution for monitoring and developing healthy behaviors. In this study, we aimed to explore the usability of a simple, low-cost wearable health device, Mi, for physical activity and sleep duration in healthy adults. Participants were asked to wear the Mi on their non-dominant wrist for seven consecutive days. The total walking steps and sleep time were recorded. We found that the male participants walk more, in particular young adults. As for sleep duration, the female participants sleep more, especially adults. In addition, participants revealed they could tolerate wearing the Mi all day long including at night. This study demonstrated the usability of the wearable health device for continuously recording of physical activity and sleep duration. It is hoping that the wearable health devices can be used for everyone and everywhere to promote health.

Stroke Rehabilitation via a Haptics-Enhanced Virtual Reality System

Stroke is one of the major diseases causing brain injury, its sequela will, depending on persistent nervous injury, derive different types of limb and body exercise barriers, which will cause large challenge to the daily life of the patient and will seriously affect the quality of life of the patient. Along with the development and popularity of technology, scholars in the medical care and rehabilitation fields are trying to integrate all kinds of new technologies to perform the development of new rehabilitation training system.

An innovative VR-based vestibular rehabilitation system

Dizziness caused by peripheral vestibular nerve disease might lead to the imbalance of center of gravity, which in turn might affect the quality of daily life. Vestibular function rehabilitation exercise is thought to be able to improve the symptom of dizziness effectively. However, since rehabilitation process is boring, lacks of challenges and adaptive training contents and lacks of assessment method based on exercise analysis, the effectiveness of rehabilitation exercise is thus reduced. In this research, Cawthorne-Cooksey vestibular rehabilitation training exercise in clinical use was modified as an innovative interactive rehabilitation training system in which stereo imagimg, interactive technology and game technology were applied. In this research, clinical test (17 subjects, 6 training sessions) has been successfully carried out, during the experimental process, the task performance data, the time-history of the deviation distribution of center of gravity and subjective feeling questionnaire survey data of the patient is completely measured and recorded. The experimental result has verified the functionalities of this system, in the mean time, through the task performance evaluation and the analysis of level of balance, the medical effect of this system in assisting the patient to perform dizziness rehabilitation training has been proved, and the clinical observation also shows that the patient has higher willingness and motive to use such new system to perform rehabilitation.