Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy.

Gene sub-region encoded protein domain is the basic unit for protein structure and function. The DMD gene is the largest coding gene in humans, with its phenotype relevant to idiopathic generalized epilepsy. We hypothesized variants clustered in sub-regions of idiopathic generalized epilepsy genes and investigated the relationship between the DMD gene and idiopathic generalized epilepsy. Whole exome sequencing was performed in 106 idiopathic generalized epilepsy individuals. DMD variants were filtered with variant type, allele frequency, in silico prediction, hemizygous or homozygous status in the population, inheritance mode, and domain location. Variants located at the sub-regions were selected by the subRVIS software. The pathogenicity of variants was evaluated by the American College of Medical Genetics and Genomics criteria. Articles on functional studies related to epilepsy for variants clustered protein domains were reviewed. In sub-regions of the DMD gene, two variants were identified in two unrelated cases with juvenile absence epilepsy or juvenile myoclonic epilepsy. The pathogenicity of both variants was uncertain significance. Allele frequency of both variants in probands with idiopathic generalized epilepsy reached statistical significance compared with the population (Fisher's test, p = 2.02 × 10-6, adjusted α = 4.52 × 10-6). The variants clustered in the spectrin domain of dystrophin, which binds to glycoprotein complexes and indirectly affects ion channels contributing to epileptogenesis. Gene sub-region analysis suggests a weak association between the DMD gene and idiopathic generalized epilepsy. Functional analysis of gene sub-region helps infer the pathogenesis of idiopathic generalized epilepsy.

[Clinical efficacy of shallow-needle therapy combined with estazolam on insomnia of liver stagnation transforming into fire pattern: a randomized controlled trial].

OBJECTIVE: To observe the clinical efficacy of shallow-needle therapy combined with estazolam on insomnia differentiated as liver stagnation transforming into fire and its effect on adrenocorticotropic hormone (ACTH) and cortisol (CORT), so as to explore the mechanism of this combined treatment. METHODS: A total of 119 patients with insomnia of liver stagnation transforming into fire pattern were randomly divided into shallow-needle therapy group (n=40), medication group (n=39), and shallow-needle therapy combined with medication group (combined therapy group,n=40). In the shallow-needle therapy group, the patients were treated with finger pressure and operation with shallow stimulating at Zhenjing (Dong's extra point, sedative point) and Taichong (LR3). In the medication group, the patients were administered with estazolam (1 mg) orally. In the combined therapy group, both shallow-needle therapy and medication were administered. The treatment was given once daily in each group, 10 days as one session of treatment and 2 sessions were required. Before and after the treatment, Pittsburgh sleep quality index scale (PSQI) and Self-rating anxiety scale (SAS) were used to assess sleep and anxiety status. ELISA was used to detect the contents of ACTH and CORT in plasma. The clinical efficacy was evaluated in each group. RESULTS: In within-group comparison, PSQI scores, SAS scores and the concentrations of ACTH and CORT in plasma were all decreased (P<0.05) after treatment for the patients of three groups. After treatment, the total PSQI score, the score for sleep latency, sleep duration and daytime dysfunction, as well as SAS score in the combined therapy group were all lower than those of the shallow-needle therapy group (P<0.05); the total PSQI score, the score for sleep duration and sleep efficiency, as well as SAS score were lower when compared with the medication group (P<0.05). The total effective rates were 87.50% (35/40), 82.05% (32/39) and 95.00% (38/40) in the shallow-needle therapy group, the medication group and the combined therapy group, respectively. The total effective rate in the combined therapy group was higher than those of the shallow-needle therapy group and the medication group separately (P<0.05). CONCLUSION: Shallow-needle therapy combined with estazolam is effective on insomnia of liver stagnation transforming into fire pattern, and its underlying effect mechanism is related to the reduction of plasma ACTH and CORT levels.

Mass, number and surface area concentrations of alpha-quartz exposures of refractory material manufacturing workers.

This study set out to assess the respirable mass, surface area, and number concentrations of the alpha-quartz content particles (C(r-m), C(r-s) and C(r-n)) to which workers were exposed in six different exposure groups, the raw material handling (n=10), crushing (n=12), mixing (n=12), forming (n=10), furnace (n=10), and packaging (n=10), in a refractory material manufacturing plant. For C(r-m), the exposure values in sequence were found as: mixing (68.1 microg/m3)>packaging (55.9 microg/m3)>raw material handling (53.3 microg/m3)>furnace (31.0 microg/m3)>crushing (29.8 microg/m3)>forming (22.4 microg/m3). We also found that ~21.2-68.2% of the above Cr-m exceeded the current TLV-TWA for the alpha-quartz content (50 microg/m3) suggesting a need for initiating control strategies immediately. We further conducted particle size-segregating samplings in four workplaces: crushing (n=3), mixing (n=3), forming (n=3), and furnace (n=3). We found that all resultant particle size distributions shared a quite similar geometric standard deviation (sigma(g); =2.24-2.92), but the process area, associated with higher mechanical energy (i.e., crushing process), contained finer alpha-quartz content particles (mass median aerodynamic diameter; MMAD=3.22 microm) than those areas associated with lower mechanical energy (i.e., mixing, forming, and furnace; MMAD=6.17, 5.95, and 8.92 microm, respectively). These results gave a ratio of C(r-m) in the above four exposure groups (i.e., crushing: mixing: forming: furnace=1.00: 2.30: 0.753: 1.04) which was quite different from those of C(r-s) (1.00: 1.74: 0.654: 0.530) and C(r-n) (1.00: 1.27: 0.572: 0.202). Our results clearly indicate the importance of measuring particle size distributions for assessing workers' free silica exposures.