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Background/Purpose The intergenic SNP rs10865331 at 2p15 was identified as a major risk factor for ankylosing spondylitis (AS) susceptibility in genome-wide association studies (GWAS). B3GNT2 gene regulates polylactosamine synthesis is potentially functionally relevant to AS disease development. We investigated whether SNP rs10865331 and two B3GNT2 SNPs (rs11900673 and rs1136151) are associated with AS susceptibility and disease severity in Taiwanese. Methods Distributions of genotypes, alleles, and haplotypes of three SNPs were compared between 1,472 AS patients and 2,117 healthy blood donors and among AS patients stratified by clinical characteristics. Results The intergenic SNP rs10865331 was significantly associated with AS (PFDR = 1.02E-05) in Taiwanese. In AS patients stratified by positivity of HLA-B27 and syndesmophyte formation, all three B3GNT2 locus SNPs (rs11900673, rs1136151, and rs10865331) were significantly associated with syndesmophyte formation among HLA-B27 positive AS patients. Haplotype analyses revealed that the “CTA” (rs11900673C/rs1136151T/rs10865331A) haplotype was significantly associated with AS susceptibility (Padj = 0.0177) and syndesmophyte formation (Padj = 0.016) in HLA-B27 positive patients. In contrast, “TCG” (rs11900673T/rs1136151C/rs10865331G) haplotype showed protection against AS development (Padj = 0.0005 for HLA-B27 positive and Padj = 0.004 for HLA-B27 negative, respectively) and syndesmophyte formation (Padj = 0.0017) in HLA-B27 positive patients. Furthermore, B3GNT2 mRNA expressions were negatively associated with erythrocyte sedimentation rate (ESR, P = 0.0103), C-reactive protein (CRP, P = 0.0353), Bath ankylosing spondylitis functional index (BASFI, P = 0.0171), and syndesmophyte formation (P = 0.0148). Conclusion Our data suggest that B3GNT2 gene may contribute to AS development and affect AS severity by interacting with HLA-B27 in Taiwanese.

Dysphagia is common among patients with Parkinson's disease. Swallowing and its coordination with respiration is extremely important to achieve safety swallowing. Different tools have been used to assess this coordination, however the results have been inconsistent. We aimed to investigate this coordination in patients with Parkinson's disease using a non-invasive method.Signals of submental muscle activity, thyroid cartilage excursion, and nasal airflow during swallowing were recorded simultaneously. Five different water boluses were swallowed three times, and the data were recorded and analyzed.Thirty-seven controls and 42 patients with early-stage Parkinson's disease were included. The rates of non-expiratory/expiratory pre- and post-swallowing respiratory phase patterns were higher in the patients than in the controls (P 0.001). The rates of piecemeal deglutition when swallowing 10-ml and 20-ml water boluses and overall were also significantly higher in the patients (all P 0.001). There were differences in oropharyngeal swallowing parameters between the patients and controls, including a pharyngeal phase delay with longer total excursion duration and excursion time in the patients swallowing small water boluses (1 ml, 3 ml and 5 ml), but no difference in the length of swallowing respiratory pause.Oropharyngeal swallowing and its coordination with respiration are affected in patients with early-stage Parkinson's disease, and safety compensation mechanisms were used more than efficiency during swallowing. The results of this study may serve as a baseline for further research into new treatment regimens and to improve the management of swallowing in patients with Parkinson's disease.

Chen C-C, Hong W-H, Wang C-M, Chen C-K, Wu KP-H, Kang C-F, Tang SF. Kinematic features of rear-foot motion using anterior and posterior ankle-foot orthoses in stroke patients with hemiplegic gait. Objective To evaluate the kinematic features of rear-foot motion during gait in hemiplegic stroke patients, using anterior ankle-foot orthoses (AFOs), posterior AFOs, and no orthotic assistance. Design Crossover design with randomization for the interventions. Setting A rehabilitation center for adults with neurologic disorders. Participants Patients with hemiplegia due to stroke (n=14) and able-bodied subjects (n=11). Interventions Subjects with hemiplegia were measured walking under 3 conditions with randomized sequences: (1) with an anterior AFO, (2) with a posterior AFO, and (3) without an AFO. Control subjects were measured walking without an AFO to provide a normative reference. Main Outcome Measures Rear-foot kinematic change in the sagittal, coronal, and transverse planes. Results In the sagittal plane, compared with walking with an anterior AFO or without an AFO, the posterior AFO significantly decreased plantar flexion to neutral at initial heel contact ( P =.001) and the swing phase ( P P =.002). In the coronal plane, the anterior AFO significantly increased maximal eversion to neutral (less inversion) at the stance phase ( P =.025), and decreased the maximal inversion angle at the swing phase when compared with using no AFO ( P =.005). The posterior AFO also decreased the maximal inversion angle at the swing phase as compared with no AFO ( P =.005). In the transverse plane, when compared with walking without an AFO, the anterior AFO and posterior AFO decreased the adduction angle significantly at initial heel contact ( P =.004). Conclusions For poststroke hemiplegic gait, the posterior AFO is better than the anterior AFO in enhancing rear-foot dorsiflexion during a whole gait cycle. The anterior AFO decreases rear-foot inversion in both the stance and swing phases, and the posterior AFO decreases the rear-foot inversion in the swing phase when compared with using no AFO.

Background Reviewing the literature on central neurocytoma revealed that functional outcomes traditionally have been assessed by KPS. However, KPS is not sufficiently sensitive to assess functional outcomes compared with the Barthel Index and the Functional Independence Measure (the FIM™ instrument). Discussion of other functional assessments and various aspects of central neurocytomas has never been documented clearly. Methods Nine case series of primary central neurocytomas received total or STR at our hospital. The clinical features, neuroradiologic findings, histopathologic features, and functional outcomes were listed and analyzed. Moreover, the functional outcomes were assessed using KPS, Barthel Index, and FIM™ instrument. The follow-up period ranged from 8 to 33 months after surgery. Results Patients with increased GFAP positivity or MIB-1 index greater than 3% did not have the worst scores in functional assessments. The functional outcomes of the cases presented here, including KPS, Barthel Index, and FIM™ instrument, were listed in Table 4. Most patients achieved good functional outcomes. The average KPS, Barthel Index, and FIM™ instrument were 86.25 ± 14.08 (range, 60-100), 86.88 ± 17.31 (range, 50-100), and 111 ± 17.02 (range, 78-126), respectively. Conclusion Most of the patients in this investigation achieved good ability to independently perform daily activity. Whether the high score of functional outcome was correlated with benign tumor course or 5-year survival rate remains uncertain. We recommend regular follow-up for detecting tumor growth or recurrence, although central neurocytomas are always benign.