Objective To investigate the prevalence of cervical spondylosis among adults in Beijing.Methods The prevalence of cervical spondyiosis among people older than 18 years who had lived in Beijing for more than six months was investigated in December 2010.The multi-stage sampling was used in this cross-sectional study.The related information was obtained by a self-designed questionnaire.Single and muhivariable Logistic regression models were applied to analyze high risk districts and populations.Results A total of 3859 people were enrolled in this study.Among them there were 531 people with cervical spondylosis,and the prevalence was 13.76％.The prevalence of cervical spondylosis in suburb (15.97％) was the highest compared with city center and countrysides (x2=8.257,P=0.016).The prevalence in females (10.49％) was higher than that (16.51％) in males (x2=29.432,P＜0.001).The distribution of prevalence among different age populations was inverted U shape,and the prevalence was higher in 45 years group (20.43％) and 60 years group (18.91％) compared with other two groups.The prevalence in employed group was 1.303 times higher than that in unemployed group (95％CI:1.008,1.684).According to the muhivariable logistic regression result,suburb (OR=1.306,P=0.026),females (OR=1.81 1,P＜0.001),people who were 45years or 60 years (OR=2.171,P＜0.001; OR=2.430,P＜0.001,respectively) and employed and retired people (OR=1.664,P=0.001; OR=1.303,P=0.043,respectively) were high risk population of cervical spondylosis.Conclusion The prevalence of cervical spondylosis among adults in Beijing was much higher and vastly distributed.It's necessary to reinforce the prevention,diagnosis and treatment study.Young females,people aged 45 years or 60 years,and employed people were high risk populations.

Objective To investigate the prevalence and distribution of lumbar degeneration disease among adults in Beijing.Methods The study design was cross-sectional study.The multi-stage sampling was used.The study objects were residents who were lived in Beijing over six months and older than 18 years.The related information was obtained by self-designed questionnaire.Single and multivariable Logistic regression models were applied to analyze the high risk populations.Results A total of 3186 people were studied.There were 292 people who suffered lumbar degenerational disease.The prevalence was 9.17％.The prevalence at downtown,suburb county and rural area was 7.88％,10.20％,and 9.59％,respectively,and there was not significant difference (x2=3.545,P=0.170).The prevalence of female (10.05％) was higher than male (8.13％) (x2=4.081,P=0.043; OR=1.337,95％CI:1.044,1.713).The prevalence of the population who was not less than 45 years older was significant higher than that of the population less than 45 years older (x2=102.982,P＜ 0.001).The physical labor group (12.16％) had higher risk for lumbar degeneration disease compared with mixed group (6.65％)(OR=1.510,95％CI:1.102,2.071).There were no significant differences in different education,social insurance,and income populations.Conclusion The prevalence of lumbar degeneration disease among adults is much higher and vastly distributed.It's necessary to reinforce the prevention,diagnosis and treatment study.People of female,more than 45 years older and physical labor group are high risk populations.

Objective To investigate the prevalence of low back pain among adults in Beijing.Methods The study design was a cross-sectional study,and the multi-stage sampling was used.A questionnaire survey was conducted in December 2010 to investigate prevalence of low back pain in adults who had lived in Beijing for over 6 months.Total prevalence and prevalence by region,gender and age were calculated.The chi-square test was used to compare results.Results A total of 3860 people were enrolled in this study.The one-year prevalence of low back pain was 26.09％ (1007/3860),and the point prevalence was 6.11％ (236/3860).The prevalence of different duration of low back pain (3 months,3-6 months,≥6 months) was 16.76％ (647/3860),4.12％ (159/3860) and 5.21％ (201/3860),respectively.The prevalence of females (28.83％) was higher than that of males (23.03％).The prevalence among different regions was significantly different.Prevalence in suburb and rural area (29.88％ and 27.54％,respectively) was higher than that in urban area (20.88％).No matter males or females,the prevalence in urban area was the lowest (17.48％ and 24.00％,respectively).With the increasing of age,the prevalence of low back pain became higher.In males,the prevalence of 55 to 59 years group was highest,while 60 to 64 years group was highest in females.In urban area and rural area,the prevalence of 60 to 64 years group was highest (34.43％ and 48.68％,respectively),while 55 to 59 years group was highest in suburb (47.26％).Conclusion The oneyear and point prevalence of low back pain among adults in Beijing are higher,with wide distribution.The chronic low back pain is more common.The prevalence of low back pain is higher in suburb and rural area.Females have a higher prevalence than males.Moreover,the prevalence of low back pain increases with age.

Objective To elucidate significance of hyperintense vessel signs(HVS)on FLAIR MRI in patients with cerebral infarction. Methods Two hundred and sixty-two patients with cerebral infarction admitted in our hospital were included in this study. We retrospectively defined HVS on FLAIR MRI in these patients in comparison with time of flight(TOF)on MR angiograms(MRA), hyperintense lesions on diffusion-weighted images(DWI). Results HVS on FLAIR MR[were identified in 117 patients with cerebral infarction(45.4%), of which 47 patients(83.9%)were obtained within 24 hours of symptom onset. HVS on FLAIR MRI were detected in 74 patients at sylvian fissure(62.2%), 11 at cortical sulci (9.2% ,11/119),34 at the posterior circulation regions(28.6% ,34/119). HVS on FLAIR MRI coincided well with ischemia of TOF on MRA and lesion patterns on DWI (χ2 test,P<0.01, respectively). Conclusion HVS on FLAIR MRI is helpful to evaluate abnormal major cerebral arteries of patients with cerebral infarction.

Objective To investigate the incidence of heterotopic ossification in cervical artificial disc replacement in Chinese mainland population by meta-analysis.Methods The related literatures published between 1997 and June 2012 were collected from both English databases,including Pubmed,Ovid,Cochrane library and Embase,and Chinese databases including Chinese Biomedical Literature Database,China National Knowledge Infrastructure,VIP database and Wanfang database.Literatures were selected in strict accordance with the inclusion and exclusion criteria.Studies providing data of prevalence of heterotopic ossification after cervical artificial disc replacement in Chinese mainland population were included.The information of literatures was extracted by excerpts questionnaire,and recorded by two independent researchers.I2 was calculated to test heterogeneity among studies.A random effects model was used if I2 ≥25％.Subgroup analysis was done according to the number of levels of disc replacement,brands of implants and duration of follow-up.Sensitivity analysis was done according to the sample size.The Meta-Analyst software was used for statistical analysis.Results A total of forty studies (1822 cases) were included in this study.The pooled incidence of heterotopic ossification was 7.3％ (95％CI:4.7％ to 11.0％).For single and mixed level disc replacement,the incidence was 11.6％ and 5.8％,respectively.For single and mixed level disc replacement using Bryan disc,the incidence was 13.8％ and 5.4％,respectively,and the total incidence was 7.2％.No matter the single or mixed level disc replacement,the incidence of heterotopic ossification increased with follow-up.Conclusion The incidence of heterotopic ossification in cervical artificial disc replacement is high in Chinese mainland population,while it is lower than in foreigners.However,it is necessary to monitor its long-term incidence due to its increase with follow-up.

Objective To investigate the temperature variation within intra-spinal canal and intra-spinal tumor during percutaneous radiofrequency ablation (RFA) procedure for vertebral tumor in experimental rabbits. Methods Eight New Zealand white rabbits were transplanted with VX2 carcinoma in the lumbar vertebral body by percutaneous puncture inoculation technique under CT guidance in order to set up vertebral tumor models. The eight vertebral tumor models were treated with RFA under CT guidance. The temperature within the spinal canal and vertebral tumor of rabbits was measured and recorded every 30 seconds during the RFA treatment. The results were statistically analyzed by paired sampled t text. Results The intra-tumor temperature rose to 90℃ rapidly and remained stable during the whole RFA procedure, whereas the temperature in the spinal canal exceeded 42℃ when treatment time was over three minutes during the procedure. Statistically significant difference in the temperature level during RFA existed between the spinal canal and the vertebral tumor (P < 0.05). Conclusion The temperature in the vertebral tumor of rabbit can quickly reach to the therapeutic level during RFA. Prolonging operative time of RFA may hurt the nerve due to high temperature.

Metastasis is a multistep process involving modification of morphology to suit migration, reduction of tumor cell adhesion to the extracellular matrix, increase of cell mobility, tumor cell resistance to anoikis, and other steps. MicroRNAs are well-suited to regulate tumor metastasis due to their capacity to repress numerous target genes in a coordinated manner, thereby enabling their intervention at multiple steps of the invasion-metastasis cascade. In this study, we identified a microRNA exemplifying these attributes, miR-124, whose expression was reduced in aggressive MDA-MB-231 and SK-3rd breast cancer cells. Down-regulation of miR-124 expression in highly aggressive breast cancer cells contributed in part to DNA hypermethylation around the promoters of the three genes encoding miR-124. Ectopic expression of miR-124 in MDA-MB-231 cells suppressed metastasis-related traits including formation of spindle-like morphology, migratory capacity, adhesion to fibronectin, and anoikis. These findings indicate that miR-124 suppresses multiple steps of metastasis by diverse mechanisms in breast cancer cells and suggest a potential application of miR-124 in breast cancer treatment.
Anoikis ; Breast Neoplasms ; genetics ; metabolism ; pathology ; Cell Adhesion ; Cell Line, Tumor ; Cell Movement ; Connective Tissue Growth Factor ; metabolism ; DNA Methylation ; Down-Regulation ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; MicroRNAs ; genetics ; metabolism ; Neoplasm Metastasis ; rho GTP-Binding Proteins ; metabolism ; rho-Associated Kinases ; metabolism

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with intellectual disability (ID), developmental delay (DD), and autistic spectrum disorder (ASD). METHODS: Forty patients with ID/DD/ASD referred to Nanshan Maternity and Child Health Care Hospital from September 2018 to January 2022 were enrolled. G-banded karyotyping analysis was carried out for the patients. Genomic DNA was extracted from peripheral blood samples and subjected to CNV-Seq analysis to detect chromosome copy number variations (CNVs) in such patients. ClinVar, DECIPHER, OMIM and other database were searched for data annotation. RESULTS: Among the 40 patients (including 30 males and 10 females), 16, 15 and 6 were diagnosed with ID, DD and ASD, respectively. One patient had combined symptoms of ID and DD, whilst the remaining two had combined ID and ASD. Four patients were found with abnormal karyotypes, including 47,XY,+mar, 46,XY,inv(8)(p11.2q21.2), 46,XX,del(5)(p14) and 46,XX[76]/46,X,dup(X)(p21.1q12). Chromosome polymorphism was also found in two other patients. CNV-seq analysis has detected 32 CNVs in 20 patients (50.0%, 20/40). Pathogenic CNVs were found in 10 patients (25.0%), 15 CNVs of uncertain clinical significance were found in 12 patients (30.0%), and 7 likely benign CNVs were found in 4 patients (10.0%). CONCLUSION Chromosome CNVs play an important role in the pathogenesis of ID/DD/ASD. CNV-seq can detect chromosomal abnormalities including microdeletions and microduplications, which could provide a powerful tool for revealing the genetic etiology of ID/DD/ASD patients.
Pregnancy ; Child ; Male ; Humans ; Female ; DNA Copy Number Variations ; Intellectual Disability/genetics* ; Autism Spectrum Disorder/genetics* ; Developmental Disabilities/genetics* ; Abnormal Karyotype

Purpose: Fibroblast growth factor receptor 4 (FGFR4) plays a critical role in cancer progression involving in tumor proliferation, invasion, and metastasis. This study clarified the role of FGFR4-Arg388 variant in gastric cancer (GC), and more importantly highlighted the possibility of this single nucleotide polymorphism (SNP) as potential therapeutic targets. Materials and Methods: FGFR4 polymorphism was characterized in advanced GC patients to perform statistical analysis. FGFR4-dependent signal pathways involving cell proliferation, invasion, migration, and resistance to oxaliplatin (OXA) in accordance with the SNP were also assessed in transfected GC cell lines. Results: Among 102 GC patients, the FGFR4-Arg388 patients showed significantly higher tumor stage (p=0.047) and worse overall survival (p=0.033) than the Gly388 patients. Immunohistochemical results showed that FGFR4-Arg388 patients were more likely to have higher vimentin (p=0.025) and p-STAT3 (p=0.009) expression compared with FGFR4-Gly388 patients. In transfected GC cells, the overexpression of FGFR4-Arg388 variant increased proliferation and invasion of GC cells, increasing resistance of GC cells to OXA compared with cells overexpressing the Gly388 allele. Conclusion The exploration mechanism may be through FGFR4-Arg388/STAT3/epithelial to mesenchymal transition axis regulating pivotal oncogenic properties of GC cells. The FGFR4-Arg388 variant may be a biomarker and a candidate target for adjuvant treatment of GC.

OBJECTIVE: To analyze the results of concurrent hearing and deafness genetic screening and follow up of newborns. METHODS: In total 33 911 babies born to 5 designated hospitals in Nanshan District of Shenzhen city from October 2017 to December 2019 were included. All subjects underwent concurrent hearing and deafness genetic screening covering 21 variants of 4 genes including GJB2, SLC26A4, GJB3 and Mt12SrRNA. For those with positive results, Sanger sequencing was carried out for confirmation. RESULTS: 93.32% subjects passed the first-round hearing screening, and 87.01% passed the recheck testing. The overall detection rate was 4.18%. The detection rates for GJB2, SLC26A4, GJB3 and Mt12srRNA variants were 1.98%, 1.58%, 0.37% and 0.25%, respectively. 126 and 84 subjects were found with high risk for delayed-onset and drug-induced hearing loss, respectively. In addition, 4 and 5 subjects were found to harbor homozygous/compound heterozygous variants of the GJB2 and SLC26A4 genes, respectively. Concurrent screening showed that subjects (with heterozygous variants) who did not passed the two round hearing test were as follows: GJB2 with 6.75% in the first round and 2.61% in the second round testing, SLC26A4 (3.3%/1.2%), GJB3 (0.72%/0.14%) and 12SrRNA (0.36%/Nil), respectively. Moreover, the No-pass rate in the subjects with homozygous or compound variants in single gene, heterozygous variant in single gene, heterozygous variant in multiple genes, and homozygous variant in GJB3 gene were significantly higher than the subjects with negative results of genetic screening. CONCLUSION Concurrent newborn genetic screening can enhance the effectiveness of hearing screening and enable earlier identification and intervention for children with hearing impairment. Follow-up can improve the diagnostic rate for children who are positive for the concurrent screening. Nevertheless, genetic and hearing screening cannot replace the diagnostic testing. It is necessary to conduct comprehensive analysis for the results of genetic and hearing screening and radiological examinations. Sanger sequencing and next-generation sequencing are critical for ascertain the diagnosis.
China/epidemiology* ; DNA Mutational Analysis ; Deafness/genetics* ; Follow-Up Studies ; Genes/genetics* ; Genetic Testing/statistics & numerical data* ; Hearing/genetics* ; Hearing Tests/statistics & numerical data* ; Humans ; Infant, Newborn ; Mutation ; Neonatal Screening