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Human leukocyte antigen (HLA) class I ligands and Killer immunoglobulin-like receptors (KIRs) regulate the cytolytic activity of natural killer (NK) cells and certain T cells. We examined their genetic predisposition to disease susceptibility and clinical phenotypes in Taiwanese ankylosing spondylitis (AS) patients. KIR genotyping and Human Leucocyte Antigen C (HLA-C) sequencing were performed in 653 Taiwanese AS patients and 952 healthy controls. KIR genotype distributions and HLA-C allele frequencies were compared in patients and controls and among patients with and without HLA-B27 positivity, early age onset and spinal syndesmophytes. HLA-C alleles were functionally characterized using 3D structural modelling with peptide simulation. This study discovered that the HLA-C*12:02:02 allele (43.42% vs. 3.31%; p < 0.00001 odds ratio (OR), 16.88; 95% confidence intervals (CI): 11.27-25.28) confers a strong risk for Taiwanese AS development. The 3D modelling results identified four unique amino acid polymorphisms, Ala73, Trp156, Arg219 and Met304, that may affect the function of the HLA-C*12:02:02 allele. KIR2DL5 (p = 0.0047; pFDR = 0.0423) and the KIR Bx haplotype (p = 0.0000275) were protective against Taiwanese AS, while KIR 2DS4/1D (22 base pair truncated deletion; p = 0.0044; pFDR = 0.1998) appeared to be a risk factor for it. KIR2DL5 combined with the HLA-C1/C2 heterozygous genotype showed a protective effect (AS 5.97% vs. normal 11.66%; p = 0.002; pFDR = 0.0127, OR, 0.48 95% CI: 0.33-0.70); in contrast, KIR 2DS4/1D combined with the HLA-C1C1 homozygous genotype (AS 45.33% vs. normal 35.92%; p = 0.002; pFDR = 0.0127, OR, 1.48 95% CI: 1.21-1.81) represented a risk factor for AS development. Our data suggested that interactions between KIRs and their cognate HLA-C ligands may contribute to the pathogenesis of AS. [ABSTRACT FROM AUTHOR]

Dysphagia is a condition that happens when a person cannot smoothly swallow food from the mouth to the stomach. It causes malnourishment in patients, or can even cause death due to aspiration pneumonia. Recently, more and more researchers have focused their attention on the importance of swallowing and respiration coordination, and the use of non-invasive assessment systems has become a hot research trend. In this study, we aimed to integrate the timing and pattern monitoring of respiration and swallowing by using a portable and non-invasive approach which can be applied at the bedside in hospitals or institutions, or in a home environment. In this approach, we use a force sensing resistor (FSR) to detect the motions of the thyroid cartilage in the pharyngeal phase. We also use the surface electromyography (sEMG) to detect the contraction of the submental muscle in the oral phase, and a nasal cannula to detect nasal airflow for respiration monitoring during the swallowing process. All signals are received and processed for swallowing event recognition. A total of 19 volunteers participated in the testing and over 57 measurements were made. The results show that the proposed approach can effectively distinguish the swallowing function in people of different ages and genders. [ABSTRACT FROM AUTHOR]

Toll-like receptors (TLRs), as innate immunity sensors, play critical roles in immune responses. Six SNPs of TLR3, TLR7, and TLR8 were genotyped to determine their associations with systemic lupus erythematosus (SLE) and clinical manifestations of SLE. TLR7 SNP rs3853839 was independently associated with SLE susceptibility in females (G vs. C: p = 0.0051). TLR7 rs3853839-G (G vs. C: p = 0.0100) and TLR8 rs3764880-G (recessive model: p = 0.0173; additive model: p = 0.0161) were associated with pericardial effusion in females relative to healthy females. Anti-SSA positive cases were more likely to have the dominant TLR7 rs179010-T allele than normal controls (p = 0.0435). TLR3 rs3775296-T was associated with photosensitivity (p = 0.0020) and anemia (p = 0.0082). The "G-G" haplotype of TLR7 rs3853839 and TLR8 rs3764880 increased risk of SLE in females (age adjustedp =0.0032). These findings suggest that TLR variations that modify gene expression affect risk for SLE susceptibility, clinical phenotype development, and production of autoantibodies [ABSTRACT FROM AUTHOR]

To investigate the possible association of the Fcγ receptor IIb (FcγRIIb) Ile/Thr187 transmembrane domain polymorphism, which significantly affects receptor signaling, with susceptibility to systemic lupus erythematosus (SLE) in Taiwanese patients.We used matrix‐assisted laser desorption ionization−time‐of‐flight mass spectrometry to genotype 351 Taiwanese SLE patients and 372 age‐ and sex‐matched healthy individuals from the same geographic area. Allele frequencies and genotype distributions were compared between the patients and controls, both as an aggregate and as stratified by sex, autoantibody profile, and clinical parameters. A combined analysis was conducted to assess the FCGR2B Thr187 allele as a common risk factor in different ethnic populations.The minor Thr187 allele was significantly associated with SLE in Taiwanese subjects (P = 0.017, odds ratio [OR] 1.989 [95% confidence interval (95% CI) 1.119–3.553]). Interestingly, male SLE patients showed enrichment of the Thr/Thr187 genotype (24%; 7 of 29) as compared with female SLE patients (10%; 32 of 322) (P = 0.043, OR 2.884 [95% CI 1.028–7.839]). Additionally, SLE patients with Thr/Thr187 and Ile/Thr187 genotypes were more likely to have pleural effusions (P = 0.038, OR 1.874 [95% CI 1.033–3.411]) and anti‐SSA/Ro antibody production (P = 0.046, OR 2.221 [95% CI 1.013–4.897]). Combined analysis of 4 groups of Asian patients strongly supported the association of the FCGR2B Thr187 allele with the lupus phenotype (P = 0.000159).The FcγRIIb transmembrane polymorphism is a strong disease susceptibility candidate in epistasis with other genetic effects in Taiwanese and other Asian populations. It may also play a more prominent role in male patients with SLE. [ABSTRACT FROM AUTHOR]

Objective: To assess the effectiveness of neuromuscular electrical stimulation (NMES) on cough capacity and prevention of pulmonary complication in patients with acute cervical cord injury. Design: A randomized controlled trial. Subjects: Twenty-six tetraplegic patients with cervical spinal cord injury, 13 in the NMES therapy group and 13 in the control group. Methods: NMES was applied to the clavicular portion of the pectoralis major and abdominal muscle. Pulmonary function tests were performed before and after therapy, and at 3?months and 6?months follow-up. The pulmonary complications in this 6-month follow-up period were also recorded. Results: After the 4-week therapy, and at 3?months and 6?months follow-up testing, patients in the NMES therapy group displayed significant improvement in their peak expiratory flow, forced expiratory volume in 1?second, forced vital capacity, maximal expiratory pressure and maximal inspiratory pressure, compared with those in the control group ( p <0.05). Patients in the NMES therapy group also had fewer pulmonary complications in the follow-up period. Conclusion: NMES over the pectoralis and abdominal muscles might improve cough capacity and pulmonary function in cervical spinal cord injury with tetraplegia. This improvement might last for 6?months. With this improvement, pulmonary complications were reduced. [ABSTRACT FROM AUTHOR]

Objective: To assess the balance function of hemiplegic stroke patients and to investigate whether visual feedback rhythmic weight-shift training following acute stroke can decrease falls among patients with hemiplegic stroke. Design: A prospective study, using a Balance Master. Setting: Hospital-based rehabilitation units. Subjects: Fifty-two hemiplegic stroke patients (28 in the training group and 24 in the control group). Interventions: Conventional stroke rehabilitation programme plus visual feedback rhythmic weight-shift training. Training effect was evaluated by assessing the static and dynamic balance performance as well as comparing the occurrence of falls in the training and control groups at six-month follow-up. Main measures: Occurrence of falls; static balance in different sensory conditions; and dynamic balance performance, including on-axis velocity and directional control during rhythmic weight-shift. Results: Significant improvement in dynamic balance performance was found in hemiplegic patients in the training group. The improvement was sustained for six months. With regarding to static balance function, no significant improvement was found. At six-month follow-up, 5 of 28 patients (17.8%) in the training group had fallen, compared with 10 of 24 patients (41.7%) in the control group. The occurrence of falls decreased, although not statistically significantly (p = 0.059). Conclusions: Visual feedback rhythmic weight-shift training may improve dynamic balance function for hemiplegic stroke patients. The effects of training may be sustained for six months. The occurrence of falls decreased in the training group, but not statistically significantly. [ABSTRACT FROM AUTHOR]