Реферат
BACKGROUND@#Sleep disorders are one of the earliest non-motor symptoms of Parkinson's disease (PD). Sleep disorders could, therefore, have value for recognition and diagnosis in PD. However, no unified classification and diagnostic criteria exist to evaluate sleep disorders by polysomnography (PSG). Utilizing PSG to monitor sleep processes of patients with PD and analyze sleep disorder characteristics and their relationship with demographic parameters could aid in bridging this gap. This preliminary study aimed to evaluate the clinical characteristic of sleep disorders in PD using PSG.@*METHODS@#PSG was used to evaluate sleep disorders in 27 patients with PD and 20 healthy volunteers between August 2015 and July 2018 in Fujian Medical University Union Hospital. Total sleep time (TST), sleep efficiency (SE), total wake time, and other parameters were compared between the two groups. Finally, the correlation between sleep disorders and age, disease duration, Unified Parkinson's Disease Rating Scale-III scores, Hoehn-Yahr stage, and levodopa dose were analyzed. The main statistical methods included Chi-square test, two independent samples t test, Fisher exact test, and Pearson correlation.@*RESULTS@#Sleep fragmentation in the PD group was significantly increased (74.1%) while difficulty falling asleep and early awakening were not, as compared to healthy controls. No significant differences were found in time in bed, sleep latency (SL), non-rapid eye movement (NREM) stage 1 (N1), N1%, N2, N2%, N3%, and NREM% between PD and control groups; but TST (327.96 ± 105.26 min vs. 414.67 ± 78.31 min, P = 0.003), SE (63.26% ± 14.83% vs. 76.8% ± 11.57%, P = 0.001), R N3 (20.00 [39.00] min vs. 61.50 [48.87] min, P = 0.001), NREM (262.59 ± 91.20 min vs. 337.17 ± 63.47 min, P = 0.003), rapid-eye-movement (REM) (32.50 [33.00] min vs. 85.25 [32.12] min, P < 0.001), REM% (9.56 ± 6.01 vs. 15.50 ± 4.81, P = 0.001), REM sleep latency (157.89 ± 99.04 min vs. 103.47 ± 71.70 min, P = 0.034) were significantly reduced in PD group.@*CONCLUSION@#This preliminary study supported that sleep fragmentation was an important clinical characteristic of sleep disorders in PD. Whether sleep fragmentation is a potential quantifiable marker in PD needs to be further investigated in the future study.
Реферат
Background@#Sleep disorders are one of the earliest non-motor symptoms of Parkinson’s disease (PD). Sleep disorders could, therefore, have value for recognition and diagnosis in PD. However, no unified classification and diagnostic criteria exist to evaluate sleep disorders by polysomnography (PSG). Utilizing PSG to monitor sleep processes of patients with PD and analyze sleep disorder characteristics and their relationship with demographic parameters could aid in bridging this gap. This preliminary study aimed to evaluate the clinical characteristic of sleep disorders in PD using PSG.@*Methods@#PSG was used to evaluate sleep disorders in 27 patients with PD and 20 healthy volunteers between August 2015 and July 2018 in Fujian Medical University Union Hospital. Total sleep time (TST), sleep efficiency (SE), total wake time, and other parameters were compared between the two groups. Finally, the correlation between sleep disorders and age, disease duration, Unified Parkinson’s Disease Rating Scale-III scores, Hoehn-Yahr stage, and levodopa dose were analyzed. The main statistical methods included Chi-square test, two independent samples t test, Fisher exact test, and Pearson correlation.@*Results@#Sleep fragmentation in the PD group was significantly increased (74.1%) while difficulty falling asleep and early awakening were not, as compared to healthy controls. No significant differences were found in time in bed, sleep latency (SL), non-rapid eye movement (NREM) stage 1 (N1), N1%, N2, N2%, N3%, and NREM% between PD and control groups; but TST (327.96 ± 105.26 min vs. 414.67 ± 78.31 min, P = 0.003), SE (63.26% ± 14.83% vs. 76.8% ± 11.57%, P = 0.001), R N3 (20.00 [39.00] min vs. 61.50 [48.87] min, P = 0.001), NREM (262.59 ± 91.20 min vs. 337.17 ± 63.47 min, P = 0.003), rapid-eyemovement (REM) (32.50 [33.00] min vs. 85.25 [32.12] min, P < 0.001), REM% (9.56 ± 6.01 vs. 15.50 ± 4.81, P = 0.001), REM sleep latency (157.89 ± 99.04 min vs. 103.47 ± 71.70 min, P = 0.034) were significantly reduced in PD group.@*Conclusion@#This preliminary study supported that sleep fragmentation was an important clinical characteristic of sleep disorders in PD. Whether sleep fragmentation is a potential quantifiable marker in PD needs to be further investigated in the future study.
Реферат
<p><b>OBJECTIVE</b>To investigate chloride channel 1 (CLCN1) gene mutation and clinical features of 2 Chinese patients with myotonia congenita.</p><p><b>METHODS</b>Clinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed. Exons of CLCN1 gene were amplified and sequenced.</p><p><b>RESULTS</b>The proband from the affected family was found to carry a c.1024G>A heterozygous missense mutation in exon 8, whilst the sporadic patient has carried a c.1292C>T heterozygous missense mutation in exon 11.</p><p><b>CONCLUSION</b>Detection of CLCN1 gene mutation is an effective method for the diagnosis of myotonia congenita. Exon 8 of CLCN1 gene may be a mutational hotspot in Chinese patients with myotonia congenita.</p>
Тема - темы
Adolescent , Humans , Male , Base Sequence , Chloride Channels , Genetics , Exons , Heterozygote , Mutation , Myotonia Congenita , Diagnosis , Genetics , PedigreeРеферат
Objective To investigate the inhibitory effect of minocycline (Mino) on lipopolysaccharide (LPS)-induced activation ofmicroglias and its srbsequent protective effects on nigral dopaminergic neurons. Methods A total of 25 male Sprague-Dawley (SD) rats were randomly allocated into three groups, sole LPS intervention group (LPS group)(n=10), LPS+Mino intervention group (n=10)(LPS+Mino group) and 5 rats injected with normal saline as the control group. Behavioral changes of all the rats were observed at 7 and 14 d, and the immunohistochemistry, in situ hybridization and Western blot were applied to observe the activation of microglias and the expression levels of positive neurons, mRNA and protein of tyrosine hydroxylase (TH) and OX-42. Results The rotation time of the LPS+Mino group was significantly lower than that of the LPS group at 7 and 14 d; the majority of microglias were activated in both the LPS and LPS+Mino groups, and the number of "amoeboid" microglias in the latter group was obviously lower than that in the former group, a few "ramified" microglias still existing in the latter group; Western blot assay showed that the protein levels of OX-42 expressed in the operative side midbrain of the two groups after induction were significantly higher than that in the control group, and the increment of (0.91±0.04) in the LPS+Mino group was significantly lower than that of (1.03±0.03) in the LPS group (P＜0.01); the number of TH positive neurons and the levels of TH mRNA and protein in the operative side midbrain of both groups after LPS treatment were obviously lower than in the control group, and the decreases of (21.54 ±4.89,39.87 ±7.03and 0.42±0.03) in the LPS group were significantly higher than that of (53.41±8.36,65.12±9.06 and 0.63±0.04) in the LPS+Mino group (P＜0.01). Conclusion Mino may protect nigral dopaminergic neurons against lipopolysaccharide-induced neurotoxicity by inhibiting microglia activation and subsequently prevent the progression of LPS-induced Parkinson's disease (PD).[ Key words ] Minocycline; Lipopolysaccharide; Dopaminergic neurons; Microglia;Parkinson's disease
Реферат
Objective To further investigated the effect of minocycline on the inhibition of microglial activation and subsequent protection of nigral DA neuron.Methods 20 rats injected with LPS in the substantia nigra (SN) were randomly divided into two groups (LPS group and LPS+Minocycline group).The behavior was observed on the 7~(th) d and 14~(th) d.The immunohistoehemistry,in situ hybridization and Western-blot were used to detect the levels of positive neuron,mRNA,protein of TH and OX-42. Results The slightly rotational behavior was observed in LPS+Minoeyeline group.The majority of mieroglias were activated in the two groups.Some microglia in the SNpc remained ramified in LPS+ Minocycline group.The numbers of hypertophie microglia in LPS+Minoeyeline group were less than that in LPS group.Western-blot showed that the protein of OX-42 in two LPS groups was higher than in normal group(P