Bioinformatics analysis based on high-throughput sequencing data to identify hub genes related to different clinical types of COVID-19.

This article aims to explore hub genes related to different clinical types of cases with COVID-19 and predict the therapeutic drugs related to severe cases. The expression profile of GSE166424 was divided into four data sets according to different clinical types of COVID-19 and then calculated the differential expression genes (DEGs). The specific genes of four clinical types of COVID-19 were obtained by Venn diagram and conducted enrichment analysis, protein-protein interaction (PPI) networks analysis, screening hub genes, and ROC curve analysis. The hub genes related to severe cases were verified in GSE171110, their RNA-specific expression tissues were obtained from the HPA database, and potential therapeutic drugs were predicted through the DGIdb database. There were 536, 266, 944, and 506 specific genes related to asymptomatic infections, mild, moderate, and severe cases, respectively. The hub genes of severe specific genes were AURKB, BRCA1, BUB1, CCNB1, CCNB2, CDC20, CDC6, KIF11, TOP2A, UBE2C, and RPL11, and also differentially expressed in GSE171110 (P < 0.05), and their AUC values were greater than 0.955. The RNA tissue specificity of AURKB, CDC6, KIF11, UBE2C, CCNB2, CDC20, TOP2A, BUB1, and CCNB1 specifically enhanced on lymphoid tissue; CCNB2, CDC20, TOP2A, and BUB1 specifically expressed on the testis. Finally, 55 drugs related to severe COVID-19 were obtained from the DGIdb database. Summary, AURKB, BRCA1, BUB1, CCNB1, CCNB2, CDC20, CDC6, KIF11, TOP2A, UBE2C, and RPL11 may be potential diagnostic biomarkers for severe COVID-19, which may affect immune and male reproductive systems. 55 drugs may be potential therapeutic drugs for severe COVID-19.

A Potential Immune-Related miRNAs Regulatory Network and Corresponding Diagnostic Efficacy in Schizophrenia.

PURPOSE: Immune-related pathways actively participate in the progression of schizophrenia (SCZ), however, roles of immune-related miRNAs in SCZ are still unclear. METHODS: A microarray expression study was conducted to explored roles of immune-related genes in SCZ. Functional enrichment analysis by using "clusterProfiler" was used to identify molecular alterations of SCZ. Protein-protein interaction (PPI) network was constructed and helped core molecular factors identification. Based on The Cancer Genome Atlas (TCGA) database, clinical significances of hub immune-related genes in cancers were also been explored. Then, correlation analyses were used to determine immune-related miRNAs. We further validated that hsa-miR-1299 could be an effective diagnostic biomarker for SCZ via analyzing multi-cohorts' data and quantitative real-time PCR (qRT-PCR). RESULTS: A total of 455 mRNAs and 70 miRNAs that were differentially expressed between SCZ and control samples. Functional enrichment analysis based on differentially expressed genes (DEGs) hinted that immune-related pathways were significantly correlated with SCZ. Furthermore, a total of 35 immune-related genes that involved in disease onset and showed significant co-expressed relationships. Hub immune-related gene CCL4 and CCL22 are valuable in tumor diagnosis and survival prediction. Furthermore, we also identified 22 immune-related miRNAs that play important roles in this disease. An immune-related miRNAs-mRNAs regulatory network was constructed to provide miRNAs regulatory roles in SCZ. Core miRNAs expression status of hsa-miR-1299 were also validated in another cohort, which suggested its diagnostic performance for SCZ. CONCLUSIONS: Our study reports the downregulation of some miRNAs in the process of SCZ are important. Shared genomics characteristics between SCZ and cancers also provide novel insights for cancers. A significant alteration of hsa-miR-1299 expression is effective as biomarker for the diagnosis of SCZ, suggesting that this miRNA could be a specific biomarker.

Age at smoking initiation and smoking cessation influence the incidence of stroke in China: a 10-year follow-up study.

Our study aimed to explore the correlation between age at smoking initiation and smoking cessation for the risk for stroke in China. We investigated 50,174 participants from one of the urban areas of China Kadoorie Biobank (CKB) Study. Hazard ratios (HRs) and 95% confidence intervals (95% CIs) for association between smoking and incidence of stroke were estimated using Cox regression model. During a median of 10.7 years of follow-up, 4370 total stroke cases were documented. Among men, comparing current smokers to never smokers, the HR of total stroke for current smokers was 1.279 (95% CI, 1.134-1.443) for total stroke. The HRs of total stroke were 1.344 (1.151-1.570) for those started smoking at age less than 20 years, 1.254 (1.090-1.443) for those started smoking at age 20-30 years, and 1.205 (1.012-1.435) for those started smoking at age 30 year and above, with a dose-response relation (P for trend, 0.004). Comparing former smokers to current smokers, in the low pack-year group, those stopped smoking at age less than 65 years had a 18.2% decreased risk for total stroke (0.818; 0.673-0.994). The decreased risk was not found in those stopped smoking at age 65 years and above. Similar results were observed in the high pack-year group. In conclusion, we found that current smokers had a higher stroke risk than never smokers, and the risk increased with a younger age at smoking initiation. Smoking cessation can reduce the risk for stroke, especially could benefit from cessation at a younger age.

Associations of dietary, sociodemographic, and anthropometric factors with anemia among the Zhuang ethnic adults: a cross-sectional study in Guangxi Zhuang Autonomous Region, China.

BACKGROUND: After decades of rapid economic development, anemia remains a significant public health challenge globally. This study aimed to estimate the associations of sociodemographic, dietary, and body composition factors with anemia among the Zhuang in Guangxi Zhuang Autonomous Region, China. METHODS: Our study population from the baseline survey of the Guangxi ethnic minority Cohort Study of Chronic Diseases consisted of 13,465 adults (6,779 women and 6,686 men) aged 24-82 years. A validated interviewer-administered laptop-based questionnaire system was used to collect information on participants' sociodemographic, lifestyle, and dietary factors. Each participant underwent a physical examination, and hematological indices were measured. Least absolute shrinkage and selection operator (LASSO) regression was used to select the variables, and logistic regression was applied to estimate the associations of independent risk factors with anemia. RESULTS: The overall prevalences of anemia in men and women were 9.63% (95% CI: 8.94-10.36%) and 18.33% (95% CI: 17.42─19.28%), respectively. LASSO and logistic regression analyses showed that age was positively associated with anemia for both women and men. For diet in women, red meat consumption for 5-7 days/week (OR = 0.79, 95% CI: 0.65-0.98, p = 0.0290) and corn/sweet potato consumption for 5-7 days/week (OR = 0.73, 95% CI: 0.55-0.96, p = 0.0281) were negatively associated with anemia. For men, fruit consumption for 5-7 days/week (OR = 0.75, 95% CI: 0.60-0.94, p = 0.0130) and corn/sweet potato consumption for 5-7 days/week (OR = 0.66, 95% CI: 0.46-0.91, p = 0.0136) were negatively correlated with anemia. Compared with a normal body water percentage (55-65%), a body water percentage below normal (< 55%) was negatively related to anemia (OR = 0.68, 95% CI: 0.53-0.86, p = 0.0014). Conversely, a body water percentage above normal (> 65%) was positively correlated with anemia in men (OR = 1.73, 95% CI: 1.38-2.17, p < 0.0001). CONCLUSIONS: Anemia remains a moderate public health problem for premenopausal women and the elderly population in the Guangxi Zhuang minority region. The prevention of anemia at the population level requires multifaceted intervention measures according to sex and age, with a focus on dietary factors and the control of body composition.

Effects of PM2.5 pollution and single nucleotide polymorphisms of neurotrophin signaling pathway genes acting together on schizophrenia relapse.

PURPOSE: The objective of this study was to investigate the co-effect of long-term exposure to atmospheric particulate matter PM2.5 and single nucleotide polymorphisms on schizophrenia relapse. METHODS: A total of 332 patients with schizophrenia were recruited. Genotyping of eight SNPs for five genes along the neurotrophin signaling pathway was performed by the Sequenom Massarray technology platform. Based on the data from the monitoring stations, the PM2.5 level of each patient's residence was assessed by the inverse distance weighting method using Arc GIS software. Cox regression analysis was used to determine independent risk factors. The relationship between PM2.5 levels and the risk of schizophrenia relapse was evaluated using the restricted cubic spline (RCS) method. RESULTS: In this study, a total of 191 of 332 patients with schizophrenia relapsed with hospitalization. The risk of schizophrenia relapse was 13.62 (95% CI 8.29 to 22.37) in areas with PM2.5 concentrations of 48.43 to 75.35 µg/m3. The risk of schizophrenia relapse was 5.81 (95% CI 3.58-9.42, p < 0.001) and 13.62 (95% CI 8.29-22.37, p < 0.001) in the exposure categories Q3 and Q4, respectively, compared with Q1, and non-linear relationship between cumulative PM2.5 exposure and risk of schizophrenia relapse. A greater association was observed in the YWHAB gene polymorphic locus rs6031849 genotype TG (Hazard ratio 16.62, 95% CI 5.73 to 48.24). CONCLUSIONS: PM2.5 levels, YWHAB gene polymorphism locus rs6031849, and gender jointly influenced schizophrenia relapse, with long-term exposure to high levels of PM2.5 having the greatest effect on schizophrenia relapse.

Association of MTOR and PDGFRA gene polymorphisms with different degrees of myopia severity.

This study aims to investigate the associations of SNPs in the mammalian target of rapamycin (MTOR) and the platelet derived growth factor receptor alpha (PDGFRA) genes with different degrees of myopia severity in Han and Zhuang populations. The SNPs of MTOR (rs1057079, rs1064261, and rs2536) and PDGFRA (rs1800812, rs35597368, rs4358459, rs6554162, and rs7677751) were analyzed among 1347 patients with myopia (849 patients with high myopia and 498 patients with mild to moderate myopia) and 453 controls without myopia in Guangxi, China (collected 2016-2018). Genetic model association analysis was performed on each SNP in different myopia subgroups. The associations of rs1057079 and rs1064261 with mild to moderate myopia were observed under the dominant models (rs1057079: OR = 1.324, 95%CI: 1.005-1.744, P = 0.046; rs1064261: OR = 1.597, 95%CI: 1.099-2.319, P = 0.014). However, the association of SNP rs1057079 could not withstand multiple correction. The number of adverse genotypes in each sample was counted. Results showed that in the high myopia group, the levels of risk of myopia in patients carrying three to four and five to eight adverse genotypes were 1.734 and 2.062 times the level of risk in patients carrying two or lower genotypes, respectively. After the stratified analyses of Han and Zhuang populations, the Zhuang populations consistently had high frequencies of myopia. This study provides evidence suggesting that the MTOR and PDGFRA genes are associated with different degrees of myopia severity and have gene-gene interactions. In addition, this study discovered a new SNP of MTOR (rs1064261) that is associated with myopia. Thus, further longitudinal studies are warranted.

CircUSP36 attenuates ischemic stroke injury through the miR-139-3p/SMAD3/Bcl2 signal axis.

Circular RNAs (circRNAs) play important roles in a variety of physiological and pathological processes. Researches demonstrated that circRNAs provided novel strategies for the prevention and treatment of IS. However, the biological function of hsa_circ_0045932 (circUSP36) has not been revealed yet. Here, we explored the effect of circUSP36 on IS and its mechanism. In the present study, we found that circUSP36 expression was significantly decreased in the peripheral blood of IS patients and was negatively correlated with the severity, infarct volume and poor prognosis of IS. Functionally, circUSP36 silencing inhibited cellular activity and proliferation and promoted apoptosis after oxygen-glucose deprivation/reperfusion (OGD/R) treatment, while circUSP36 overexpression reversed these cellular phenotypes in vitro. Adeno-associated virus (AAV)-mediated overexpression of circUSP36 attenuates brain injury and neurological deficit and promotes motor function recovery of transient middle cerebral artery occlusion (tMCAO) mice. Subsequently, the RNA antisense purification (RAP) and luciferase reporter assay confirmed that circUSP36 acts as a sponge to adsorb miR-139-3p, and miR-139-3p could bind and inhibit SMAD3 expression. Further rescue experiments showed that both miR-139-3p overexpression and SMAD3 silencing could abolish the antiapoptotic effect of circUSP36. In summary, we reveal for the first time that circUSP36 attenuates ischemic stroke injury through the miR-139-3p/SMAD3/Bcl2 signal axis, which make circUSP36 a potential therapeutic target for IS.

Application of machine learning in diagnostic value of mRNAs for bipolar disorder.

PURPOSE: Bipolar disorder (BD) is a type of severe mental illness with symptoms of mania or depression, it is necessary to find out effective diagnostic biomarkers for BD due to diagnosing BD is based on clinical interviews without objective indicators. MATERIALS AND METHODS: The mRNA expression levels of genes included PIK3R1, FYN, TP53, PRKCZ, PRKCB, and YWHAB in the peripheral blood of 43 patients with bipolar disorder and 47 healthy controls were detected. Machine learning methods included Artificial Neural Networks, Extreme Gradient Boosting, Random Forest, and Support Vector Machine were adopted to fit different gene combinations to evaluate diagnostic value for bipolar disorder. RESULTS: The combination 'PIK3R1 + FYN' in the SVM model showed the best diagnostic value, with AUC, sensitivity, and specificity values of 0.951, 0.928, and 0.937, respectively. CONCLUSIONS: The diagnostic efficiency for bipolar disorder was significantly improved by fitting PIK3R1 and FYN through the Support Vector Machine model.

Machine Learning Analysis of MicroRNA Expression Data Reveals Novel Diagnostic Biomarker for Ischemic Stroke.

OBJECTIVES: Ischemic stroke (IS) is one of the leading causes of morbidity and mortality worldwide. Circulating microRNAs have a potential as minimally invasive biomarkers for disease prediction, diagnosis, and prognosis. In this study, we sought to use different machine learning algorithms to identify an optimal model of microRNA by integrating the expression data of pre-selected microRNAs for discriminating patients with IS from controls. METHODS: The expression level of microRNAs in the peripheral blood of 50 patients with IS and 50 matched controls were assessed through real-time polymerase chain reaction (qRT-PCR). Machine learning algorithms, including artificial neural network, random forest, extreme gradient boosting, and support vector machine (SVM) were employed via R 3.6.3 software to establish diagnostic models for IS. RESULTS: The IS group had significantly increased expression levels of miR-19a (P < 0.001), miR-148a (P < 0.001), miR-320d (P = 0.003), and miR-342-3p (P < 0.001) compared with the control group. MiR-148a, miR-342-3p, miR-19a, and miR-320d yielded areas under the receiver operating characteristic curve (AUC) of 0.872, 0.844, 0.721, and 0.673, respectively, with 0.740, 0.940, 0.740, and 0.840 sensitivity and 0.920, 0.640, 0.600, and 0.440 specificity, respectively. Model miR-148a + miR-342-3p + miR-19a had the best predictive value when analyzed via SVM algorithm with AUC, sensitivity, and specificity values of 0.958, 0.937, and 0.889, respectively. CONCLUSION: The diagnostic value of the combination of miR-148a, miR-342-3p, and miR-19a through SVM algorithm has the potential to serve as a feasible approach to promote the diagnosis of IS.

Phosphoinositide-3-kinase regulatory subunit 1 gene polymorphisms are associated with schizophrenia and bipolar disorder in the Han Chinese population.

Schizophrenia (SCZ) and bipolar disorder (BD) are severe psychiatric disorders that share many genetic risk factors. This study aimed to investigate the association of phosphoinositide-3-kinase regulatory subunit1 (PIK3R1) gene rs3756668 and rs3730089 polymorphisms with SCZ and BD risks and determine the expression levels of PIK3R1. A total of 548 SCZ cases, 512 BD cases, and 598 healthy controls were included in this study. Single nucleotide polymorphisms (SNPs) were genotyped using the Sequenom MassARRAY platform, and quantitative reverse transcription polymerase chain reaction was conducted to examine the mRNA expression of PIK3R1. The genotypic distribution of rs3756668 in the BD group was significantly different from that in the healthy controls (P = 0.038). After adjustment for gender and age was made, rs3730089 was significantly associated with the risk of SCZ [AA/(AG + GG): OR = 2.25, Padj = 0.040; AA/GG: OR = 2.27, Padj = 0.038]. The SNP rs3756668 was associated with the susceptibility of BD (AA+GG/AG: OR = 0.73, P = 0.011) and the association remained after adjusting for gender and age. The mRNA level of PIK3R1 was significantly upregulated in patients with BD compared with that in the control group (P < 0.001). In terms of the diagnostic value of PIK3R1 for BD, the receiver operating characteristic curve analysis showed an area under the curve of 0.809 with 74.0% sensitivity and 73.9% specificity. PIK3R1 may be the shared susceptibility gene of SCZ and BD and may be a potential diagnostic biomarker for BD.

Proposed revision of N categories to the 8th edition of the AJCC-TNM staging system for non-surgical esophageal squamous cell cancer.

The 8th edition of the American Joint Committee on Cancer Tumor-Node-Metastasis (AJCC-TNM) staging system for esophageal cancer (EC) retained the definition of N categories based on the number of metastatic lymph nodes (LN). However, it is difficult to accurately determine the number of metastatic LN without surgery. This study aimed to propose a revision to the N categories of the 8th edition AJCC-TNM staging system that makes staging easier to perform and better represents the prognosis of non-surgical esophageal squamous cell cancer (ESCC). We retrospectively reviewed the data of 336 patients with ESCC. The revised N categories were based on the anatomic regions of LN metastasis (cervix, thorax and abdomen). Survival was analyzed using the Kaplan-Meier method and compared using the log-rank test. Multivariate analyses were performed using the Cox proportional hazard model. Survival differences were adequately discriminated when the revised N categories were used. Subgroup analyses by T stage showed significant difference in overall survival between the revised N categories. Multivariate analyses demonstrated that T stage, revised N category, age, sex and treatment modality were independent risk factors, with the revised N category being the most significant variable. The revised N categories determined in this study can be used to fill gaps in the staging system for patients with non-surgical ESCC, which can help clinicians to make better treatment decisions and more effectively predict patient prognoses. Future large-scale studies are required to validate these results.

Rs7219 Regulates the Expression of GRB2 by Affecting miR-1288-Mediated Inhibition and Contributes to the Risk of Schizophrenia in the Chinese Han Population.

In the present study, we examined a potential genetic association between the variant rs7219 within the 3'-UTR of GRB2 and the susceptibility to schizophrenia (SCZ) and bipolar disorder (BD) in the Chinese Han population. A genetic association study, including 548 SCZ patients, 512 BD patients, and 598 normal controls, was conducted in the Chinese Han population. Genotyping was performed through the Sequenom MassARRAY technology platform. The expression of GRB2 was detected using quantitative real-time polymerase chain reaction (qRT-PCR). A dual-luciferase reporter assay was performed to determine whether miR-1288 could bind to the 3'-UTR region of GRB2 containing rs7219. We found that rs7219 was significantly associated with the susceptibility to SCZ under different genetic models, including additive [OR (95% CI) = 1.24 (1.02-1.49), P = 0.027], dominant [OR (95% CI) = 1.31 (1.04-1.66), P = 0.025], and allelic models[OR (95% CI) = 1.24 (1.03-1.49), P = 0.027]. However, no significant associations were found between rs7219 and the risk for BD (all P > 0.05). Moreover, we observed that the expression of GRB2 significantly decreased in SCZ patients compared with the controls (P = 0.004). The dual-luciferase reporter assay showed that the minor allele C of rs7219 significantly decreased the luciferase activity by binding miR-1288 (P < 0.001). In summary, we are the first to reveal that rs7219 is significantly associated with the susceptibility to SCZ in the Chinese Han population. Moreover, the minor allele C of rs7219 is identified as a risk allele for SCZ because it generates a binding site for miR-1288, thereby resulting in decreased expression of GRB2 and ultimately increasing the risk of SCZ.

LncRNA ANRIL Expression and ANRIL Gene Polymorphisms Contribute to the Risk of Ischemic Stroke in the Chinese Han Population.

The aim of the present study was to explore the role of lncRNA ANRIL in the pathogenesis of ischemic stroke (IS) and coronary artery disease (CAD) and to determine the association between ANRIL variants and the genetic susceptibility of IS and CAD in the Chinese Han population. A genetic association study including 550 IS patients, 550 CAD patients, and 550 healthy controls was conducted. The expression levels of lncRNA ANRIL, CDKN2A, and CDKN2B were detected using qRT-PCR. Genotyping was performed by Sequenom MassARRAY on an Agena platform. Our study showed that IS patients had an increased lncRNA ANRIL expression (P = 0.002) and a decreased CDKN2A expression (P < 0.001) compared with normal controls. A significant difference with regard to the genotype distribution of rs2383207 was found between male IS patients and controls (P = 0.011). The minor allele of rs2383207 significantly increased the IS risk under a recessive model (OR = 1.52, 95% CI = 1.05-2.21, P = 0.027). The minor allele of rs1333049 was significantly associated with the risk of IS among the male patients under a recessive model (OR = 1.56, 95% CI = 1.04-2.35, P = 0.031). However, no significant association was found between the ANRIL variants and the risk of CAD (all P > 0.050). In addition, we found a decreased lncRNA ANRIL expression in IS patients who carried the GG genotype of rs1333049 compared with IS patients who carried the CC or CG genotype (P = 0.041). In summary, we found that IS patients had an increased lncRNA ANRIL expression and a decreased CDKN2A expression compared with the controls, which might play an impellent role in pathological processes of IS. The ANRIL variants rs2383207 and rs1333049 were significantly associated with the risk of IS among males but not females in the Chinese Han population.

Epidemiology of childhood asthma in mainland China (1988-2014): A meta-analysis.

BACKGROUND: After the promotion of the two-child policy in recent years, the population of children in mainland China was bound to have a rapid growth, which would bring great challenges to public health. A number of cross-sectional studies on the epidemic of childhood asthma in mainland China were recently conducted, and varied prevalences were reported. Thus, knowing the epidemiology of childhood asthma in mainland China is of great necessity. OBJECTIVE: Our study aimed to summarize the pooled prevalence of childhood asthma in mainland China and its time trend, gender difference, regional distribution, and age structure. METHODS: Studies that reported the prevalence of childhood asthma in mainland China were identified via a systematic data base search through July 1, 2016. Meta-analysis was used to estimate the prevalence of childhood asthma and its subgroups, including gender, age groups, years, and regions. The regional distribution of the prevalence was set by province with the help of a geographic mapping software. The autoregressive integrated moving average model was used to predict the current prevalence of asthma. RESULTS: A total of 117 studies published from 1988 to 2014 in mainland China with a total sample size of 2,678,696 were included. The overall current prevalence and lifetime prevalence of childhood asthma was 2.112% (95% confidence interval [CI], 1.977-2.247%) and 2.502% (95% CI, 2.166-2.838%), respectively. The difference of the prevalences between male and female patients was significant: odds ratio 1.54 (95% CI, 1.47-1.62) for the current prevalence and odds ratio 1.61 (95% CI, 1.47-1.77) for the lifetime prevalence. CONCLUSION: The prevalence of childhood asthma in mainland China was low but has been increasing remarkably since 1998. Boys are more likely to have asthma throughout most of their childhood. Preschoolers (3-6 years old) showed a higher prevalence than the other age groups. The current prevalence of childhood asthma probably increased slightly from 2017 to 2019.

The incidence and risk factors for central lymph node metastasis in cN0 papillary thyroid microcarcinoma: a meta-analysis.

Although there have been many studies identifying clinical and pathologic factors that may predict central lymph node metastases (CLNM) in papillary thyroid microcarcinoma (PTMC) patients without clinically cervical lymph node metastasis (cN0), the results were inconsistent. And whether prophylactic central lymph node dissection (pCLND) should be performed in cN0 PTMC remains controversial. The EMBASE, PubMed, MEDLINE and the Cochrane Library were searched until Oct 2015 to identify relevant studies. Primary outcomes were clinical and pathologic factors for CLNM. Secondary outcomes included CLNM rate, surgical complications of hypocalcaemia and recurrent laryngeal nerve(RLN) injury and neck recurrences. Statistical analysis was performed using Stata 12.0. Fourteen eligible studies enrolling 4573 patients were included in this meta-analysis. The overall incidence of CLNM was 33 % (95 % CI 29-37). An elevated risk of CLNM was significantly associated with male gender (OR 2.33, 95 % CI 1.71-3.17), age <45 years (OR 1.27, 95 % CI 1.08-1.48), tumor size >5 mm (OR 2.16, 95 % CI 1.87-2.50), multifocality (OR 1.73, 95 % CI 1.45-2.05), extrathyroidal extension (OR 1.99, 95 % CI 1.66-2.37) and lymphovascular invasion (OR 3.87, 95 % CI 1.64-9.10), but not with thyroid bilaterality (OR 1.41, 95 % CI 0.89-2.22) and chronic lymphocytic thyroiditis (OR 0.98, 95 % CI 0.66-1.47). The pooled frequency of permanent hypocalcaemia, permanent RLN injury and neck recurrences was 1.1, 0.5 and 2.8 %, respectively. cN0 PTMC patients have a considerable CLNM rate and have a low pooled incident of surgical complications and neck recurrences with pCLND. Six unfavorable clinical and pathologic factors, which were significantly associated with CLNM, were identified. These findings may help guide the application of pCLND or subsequent treatment in cN0 PTMC.

The dopamine beta-hydroxylase gene polymorphism rs1611114 is associated with schizophrenia in the Chinese Zhuang but not Chinese Han population.

Schizophrenia (SCZ) is a devastating neurodevelopmental disorder. However, the mechanism underlying this highly heritable disorder remains unclear. The dopamine beta-hydroxylase (DBH) gene encodes a key metabolic enzyme of dopamine. Consequently, DBH is considered a candidate gene for SCZ. However, previous studies on its association with SCZ susceptibility have shown conflicting results. Here, we examined association between the rs1611114 polymorphism of DBH and SCZ susceptibility and related clinical symptoms. A total of 691 SCZ patients and 698 age- and gender-matched healthy controls were examined. mRNA expression levels of DBH were measured by quantitative real-time polymerase chain reaction, and the rs1611114 polymorphism was genotyped using the Sequenom MassARRAY platform. Also, the Positive and Negative Syndrome Scale (PANSS) was used to assess SCZ clinical symptoms. Our results show lower DBH mRNA expression levels in SCZ patients than healthy controls (Zhuang: p = 0.000; Han: p = 0.037). Interestingly, the rs1611114 polymorphism was significantly associated with SCZ susceptibility (overdominant model: p = 0.010) in only the Chinese Zhuang population. Furthermore, the rs1611114 polymorphism was associated with PANSS total score (allele T/C: p = 0.015) and general psychopathology score (allele T/C: p = 0.027) in Chinese Zhuang SCZ patients. These results suggest that the DBH gene may play an important role in the occurrence of SCZ. Also, rs1611114 may be associated with SCZ susceptibility and related clinical symptoms in the Chinese Zhuang but not Han Chinese population. Further studies with larger samples of different ethnicities are needed to confirm the role of DBH in SCZ.

Cognitive disorders in HIV-infected and AIDS patients in Guangxi, China.

The purposes of this study were to assess cognitive disorders in HIV/AIDS patients, identify the prevalence of HIV-associated neurocognitive disorders (HAND), provide evidence that may be used for early diagnosis and treatment, and establish a baseline for follow-up studies. The setting for this study was Guangxi, a culturally and economically underdeveloped province located in southwestern China with a large minority community. Due to the specific geographic and cultural environment, Guangxi has the second highest HIV incidence in China. There have been no research or large epidemiologic studies exploring cognitive disorders in HIV/AIDS patients in Guangxi; therefore, the prevalence of HAND in patients is unknown. Thirteen tests from 12 reliable and valid neuropsychological instruments (the digit symbol test, trail making test, arithmetic scores, digit span, wood puzzle, immediate visual memory, visual memory, Stroop test, vocabulary fluency, conceptual fluency, and the Wisconsin Card Sorting Test) were used to test and compare the cognitive functions and prevalence of HAND in 99 healthy individuals and 230 HIV/AIDS patients. Within the patient group, 114 were HIV-positive without cognitive impairment and 86 (37.39%) had HAND. Among them, 42 (18.27%) had HIV-related neurocognitive impairment (ANI), 25 (18.87%) had HIV-related mild neurocognitive disorder (MND), and 19 (8.26%) had HIV-associated dementia (HAD). These results may be used for future research, such as neuroimaging studies and risk factor analysis of HAND, and in the development of early diagnosis and treatment options for HAND patients.

Influence of NRGN rs12807809 polymorphism on symptom severity in individuals with schizophrenia in the Han population but not the Zhuang population of south China.

BACKGROUND: NRGN is one of the most promising candidate genes for schizophrenia based on function and position. Therefore, this study aimed to examine the genetic association of this polymorphism with schizophrenia in the Zhuang and Han populations of south China. Subjects and methods A total of 282 patients (188 Han and 94 Zhuang) and 282 healthy subjects (188 Han and 94 Zhuang) were recruited. Of these, 246 schizophrenia patients underwent an assessment of psychotic symptoms using the Positive and Negative Syndrome Scale (PANSS). A TaqMan genotyping assay method was used to determine the genotypes. RESULTS: We did not find a significant association of rs12807809 polymorphism with schizophrenia in the total pooled samples, or in the separate ethnic groups. However, in Han schizophrenia patients, quantitative data analyses showed that the CC genotype of the rs12807809 polymorphism was associated with PANSS aggression subscale score and activation subscale score. Furthermore, carriers of the C allele of rs12807809 polymorphism among Han schizophrenia patients had higher scores of general, activation, depression, aggression, and global symptoms than the T allele carriers. CONCLUSION: In conclusion rs12807809 polymorphism may not contribute to the risk of schizophrenia but influence the clinical symptoms of schizophrenia in the Han population.

The prevalence and incidence of Parkinson's disease in China: a systematic review and meta-analysis.

Parkinson's disease (PD) is a chronic neurodegenerative disorder affecting older individuals. There is inconsistent evidence about the prevalence and incidence of PD in China at present. The aim of the meta-analysis was to estimate the prevalence and incidence of PD and its relation to age, gender, and stage in China. The literature search was conducted using PubMed, EMBASE, Chinese Biological Medical Literature database (CBM), Chinese National Knowledge Infrastructure database (CNKI), Chinese Wanfang and Chongqing VIP database for studies investigating the prevalence and incidence of PD in China from the commencement of the database until August 2012; both English and Chinese publications were included. We estimated the prevalence and incidence of PD using meta-analysis. Thirteen eligible articles were collected. The results showed that the pooled prevalence and incidence of PD were 2 per 100,000 population and 797 per 100,000 person-years. A higher prevalence of PD was found in males than in females (OR 1.29, 95 % CI 1.05-1.57). The prevalence of PD increased with age: the highest was 1,663 per 100,000 in those aged 80 and older. The overall prevalence of PD is lower in China than in developed countries, but the incidence is higher than in some developed countries. Overall, the prevalence of PD appears to increase with age and there are sex differences evident in Chinese individuals.

Genetic polymorphism of ß-fibrinogen gene-455G/A can contribute to the risk of ischemic stroke.

Many studies have investigated the association between the ß-fibrinogen gene-455G/A (FGß-455G/A) polymorphism and the risk of ischemic stroke. However, these evidences were inadequate to provide stronger conclusions because most studies were generally small. To shed light on these inconclusive findings, we conducted a large sample size meta-analysis of studies relating to the FGß-455G/A polymorphism and the risk of ischemic stroke. Odds ratios with a 95 % confidence interval were used to investigate the association between FGß-455G/A polymorphism and ischemic stroke. Publication bias was tested by Egger's test and funnel plot. Inconsistency index and Cochran's Q statistic were used to check heterogeneity. Cumulative and recursive cumulative meta-analyses were performed to provide a framework for updating a genetic effect from all of the included studies. Twenty-six independent publications with 4,070 cases and 4,649 controls were included in this meta-analysis. Results showed that the ß-fibrinogen-455G/A polymorphism was significantly associated with the risk of ischemic stroke. The FGß-455G/A polymorphism was found to be a risk factor for ischemic stroke in Asians and adults, while association was not observed for Caucasians and juveniles based on the small size and it may be necessary to conduct larger studies on them to investigate the association in the future. The cumulative meta-analysis indicated a decline from 1998 to 2003, and the results remained stable during the period 2004-2012. The results indicate that FGß-455G/A polymorphism may be a susceptible predictor of ischemic stroke. More studies are needed to elucidate the relationship further.