Background::Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson’s disease (PD) risk factors; however, no comprehensive analyses of these genes in patients with PD have been undertaken. Therefore, we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with PD.Methods::Whole-exome sequencing (WES) was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 controls. Additionally, whole-genome sequencing (WGS) was performed using another Chinese cohort comprising 1962 unrelated patients with sporadic late-onset PD and 1279 controls.Results::We detected 308 rare and 208 rare protein-altering variants in the WES and WGS cohorts, respectively. Gene-based association analyses of rare variants suggested that MSX1 is enriched in sporadic late-onset PD. However, the significance did not pass the Bonferroni correction. Meanwhile, 72 and 1730 common variants were found in the WES and WGS cohorts, respectively. Unfortunately, single-variant logistic association analyses did not identify significant associations between common variants and PD. Conclusions::Variants of 16 typical dopaminergic transcription factors might not be major genetic risk factors for PD in Chinese patients. However, we highlight the complexity of PD and the need for extensive research elucidating its etiology.

The number of investigator initiated research (IIR) is increasing. But the recognition and management of IIR in China is still in its infancy, and there is a lack of specific and operable guidance for the implementation process. Based on our practical experiences, previous literature reports, and current policy regulations, the authors took prospective IIR as an example to summarize the implementation process of IIR into 14 steps, which are as the following: study initiation, ethical review, study registration, study filing, case report form design, database establishment, standard operating procedure making, investigator training, informed consent, data collection, data entry, data verification, data locking and data archiving.

Objective To understand the etiological characteristics and risk factors of respiratory virus infection in children with bronchial asthma, and to provide theoretical basis for the prevention and treatment of respiratory virus infection in children with bronchial asthma. Methods A total of 374 children with bronchial asthma who were treated in Jianyang People's Hospital from December 2018 to December 2020 were enrolled. Pharyngeal swabs were collected from the outpatient children on the day of treatment, and 2 mL of nasopharyngeal secretions were collected from the hospitalized children within 24 hours by negative pressure aspirator. Seven viral antigens including RSV, ADV, IVA, IVB, PIVI, PIV II, and PIV III were detected. According to whether the virus test results were positive or not, they were divided into the experimental group (n=191) and the control group (n=183). Logistic regression analysis was used to screen the risk factors of respiratory virus infection in children with bronchial asthma. Results Among the 374 samples, the virus positive rate was 51.07% (191/374), and the top 3 virus species in the positive samples were RSV, ADV, and PIV III, accounting for 41.36% (79/191), 30.36% (58/191), and 9.42% (18/191), respectively. In addition, IVA accounted for 5.24% (10/191), PIV II accounted for 5.24% (10/191), PIVI accounted for 3.66% (7/191), and IVB accounted for 1.57% (3 /191). The positive rates of virus were 47.96% (94/196) and 54.49% (97/178) in male and female children, respectively, with no significant difference (χ²=1.597，P>0.05). The positive rate of 1~3 years old children was significantly higher than that of >3 years old group (χ²=6.412，P<0.05). There were significant differences in the frequency of asthma attack, intravenous glucocorticoid application and the onset season between the two groups (P<0.05). Further analysis showed that the frequency of asthma attack >3 times, intravenous glucocorticoid application and onset season were independent risk factors for respiratory virus infection in children with bronchial asthma (P<0.05). Conclusion The infection season of acute respiratory tract infection in children with asthma is mainly concentrated in autumn and winter, with RSV as the main viral pathogen. Targeted preventive measures should be given to children with bronchial asthma who have more than 3 asthma attacks and intravenous glucocorticoid application, which can reduce respiratory virus infection in children with asthma.

Excessive daytime sleepiness (EDS) is a common sleep disturbance in Parkinson's disease (PD), and the prevalence of EDS in PD patients is obviously higher than that in the normal population. EDS not only seriously influences the quality of life of PD patients but also increases the risk of accidents while driving and the risk of falling, therefore, timely recognition and intervention of EDS are of great importance. In order to deepen the understanding of EDS, this review will summarize the recent advance in epidemiology, etiology and pathogenesis, clinical significance, neuroimaging, clinical assessment, and clinical management of EDS.

Objective: To survey the children under 7 years of age in nine cities of China for a better understanding of the current situation of childhood stunting. Methods: According to a stratified cluster sampling design, a cross-sectional survey on children under 7 years of age was carried out in 9 cities (Beijing, Harbin and Xi′an in northern China; Shanghai, Nanjing and Wuhan in central China; and Guangzhou, Fuzhou and Kunming in southern China) from June to November in 2016. A total of 110 499 children were recruited. Height of children was evaluated using the growth standards for Chinese children (2009 edition) .Children with height less than the 3rd percentile of the growth standards were considered as stunting, and children with height between the 3rd and 10th percentiles of the growth standards were considered as relatively short stature. Chi-square test was used for comparison between data of boys and girls, urban and suburban, as well as among different ages and regions. Results: Totally 113 084 children under 7 years of age should be investigated and actually 110 499 children were investigated, with a rate of 97.7%. The prevalence of stunting was 1.9% (2 141/110 499) among all the children. The prevalence of stunting in urban children (1.6%, 904/55 524) was lower than that in suburban children (2.3%, 1 237/54 975, χ²=56.246, P<0.01). The gender difference in stunting prevalence was not statistically significant (1.9% (1 121/57 921) in boys and 1.9% (1 020/52 578) in girls, χ²=0.003, P=0.965). The prevalence of stunting decreased with age for children younger than 3 years, from 1.8% (312/17 080) in 0-<1 year of age group to 1.2% (168/13 740) in 2-<3 years of age group, but increased to 2.2% (240/11 073) at 6-<7 years group. Comparison among different regions showed that the stunting prevalence in southern region was higher than those in the central and northern regions (0.9% (193/20 374) in northern urban, 0.8% (154/18 486) in central urban, and 3.3% (557/16 664) in southern urban children), showing a statistical significance (χ²=437.736, P<0.01); 1.1% (241/21 924) in northern suburban, 1.4% (227/16 775) in central suburban and 4.7% (769/16 276) in southern suburban children, showing a statistical significance (χ²=646.533, P<0.01). In urban areas, the difference between the central and northern regions showed no statistical significance (χ²=1.429, P=0.232) and the stunting prevalence of central Chinese children was slightly higher than that of northern Chinese children in suburban areas (χ²=5.130, P=0.024). Among the nine cities, the stunting prevalence of Guangzhou (6.1%, 613/10 019) was higher than those of other cities (χ²=1 559.64, P<0.01). Among the stunting children, 78.4% (1 679/2 141) were classified as borderline or mild and only 7.2% (154/2 141) were classified as severe. The prevalence of relatively short stature was 5.2% (5 721/110 499). Conclusions The prevalence of stunting among children under 7 years of age in nine cities of China is low and most of the stunting children were classified as mild; the prevalence of stunting in suburban children is higher than that in urban children; the gender difference show no statistical significance; and the prevalence of stunting in southern Chinese children is higher than those in central and northern Chinese children.

CAPOS syndrome,manifested as cerebellar ataxia,areflexia,pes cavus,optic atrophy,and sensorineural deafiness,is one of the ATP1A3 gene-related disorders with an autosomal dominant inheritance pattern.The specific pathogenesis of the disease is currently unclear and the clinical manifestations are complicated.This review will provide an overview of CAPOS syndrome in the aspect of pathogenesis,clinical manifestations,diagnosis,differential diagnosis and treatment.

Objective:To explore the dose distribution characteristics between RapidArc and five-field intensity modulated radiotherapy(5F-IMRT) plans in the treatment of locally advanced pancreatic carcinoma,and to provide reference for selecting the appropriate radiation technique in clinic.Methods:Ten patients with locally advanced pancreatic carcinoma were selected.The patients were scanned by simulation CT, and the targets and organs at risk were contoured. RapidArc plan and 5F-IMRT plan were designed respectively.The treatment time and the differences of dose distribution in the targets and organs at risk of RapidArc and 5F-IMRT plans were compared.Results:The conformal index (CI) of RapidArc plan was superior than that of 5F-IMRT plan(P=0.01).The homogeneity index (HI) of targets were similar between two plans (P>0.05).RapidArc plan decreased the maximum dose (Dmax) of the spinal cord(P=0.005);RapidArc plan decreased the mean dose(Dmean) of stomach(P=0.019);5F-IMRT plan decreased the V20 of kidney(P=0.043);RapidArc plan decreased the mean dose(Dmean) of small intestine(P=0.011).The small intestine V10 and V20 of RapidArc plan were lower than those of 5F-IMRT plan(P=0.015,P=0.14);the monitor unit (MU) of RapidArc plan was significantly lower than that of 5F-IMRT plan,with a 18% reduction from the MU level of the latter one,and the treatment time was reduced by 70.3%.RapidArc plan had the smaller doses at liver and kidney compared with 5F-IM RT plan.Conclusion:For the patients with locally advanced pancreatic carcinoma,RapidArc plan has higher CI. RapidArc plan shows the advantages in the protection of organs.Compared with 5F-IMRT,RapidArc plan has less treatment time and significantly improves the curative efficiency.In clinic, the RapidArc plan is recommended.

To investigate the effect of block of AGEs-RAGE pathway on the migration of aortic vascular smooth muscle in diabetic rats and its possible mechanisms, vascular smooth muscle cells(VSMCs)cells were pre-stimulated by antibody of RAGE, and then stimulated by AGEs. Transwell assay was adopted to assay migration of VSMCs. Proliferation of VSMCs and expression of p27 were analyzed by MTT and ELISA, respectively. The change of ROS level in VSMCs was defermined by DCFH assay, the expression of NOX1 mRNA was determined by RT-PCR assay. Results indicated that the AGEs induction for migration of VSMCs was significantly inhibited after treatment by RAGE antibody(P< 0. 01), which blocked the AGEs-RAGE pathway, and the inhibition of migration was stronger than that of proliferation. The ROS level was decreased(P< 0. 01), and the expression of NOX1 mRNA was decreased, yet the expression of P27 protein was not changed greatly. Block of AGEs-RAGE pathway by antibody of RAGE can inhibit the migration of VSMCs, and the mechanism may be related with the decrease of NOX1 mRNA and then down to the level of intracellular oxidative stress in VSMCs.

In this study, the psbA-trnH sequence was used as DNA barcoding to evaluate the accuracy and stability for identification of Bamboo shavings, Concretio Silicea Bambusae and their closely related species. 56 samples were collected and conducted the DNA extraction. Obtained sequences were assembled using the CodonCode Aligner V4.2, the genetic distances and NJ tree were computed and constructed using MEGA 5.0. The results shows that the maximum intra-specific K2P distances were less than the minimum inter-specific K2P distances. The NJ tree indicated that Bamboo shavings, Concretio Silicea Bambusae and their closely related species can be distinguished from each other clearly, except for Bambusa tuldoides Munro and Bambusa textilis, which perhaps attributed to their closely genetic relationship.

In this study, the ITS2 sequence was used to identify Pinelliae Rhizoma and its adulterants to ensure its market circulation, clinical effect and safety. All genomic DNA from 59 samples were extracted successfully. The Kimura 2-Parameter (K2P) distances and NJ tree were calculated using software MEGA 6.0. The length of the ITS2 sequence of Pinelliae Rhizoma was 251 bp. The intraspecific genetic distance was smaller than the interspecific ones;The NJ tree indicated that Pinelliae Rhizoma distinguished from its adulterants obviously. The results showed that the ITS2 sequence can be used to distinguish Pinelliae Rhizoma from its adulterants accurately and stably.