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To analyze the epidemiological characteristics of hand, foot and mouth disease (HFMD) in Sichuan Province from 2013 to 2019. To study the correlation between meteorological factors and the incidence of HFMD and construct a prediction model.The HMFD surveillance data and meteorological data from 2013 to 2019 in Sichuan Province were collected through the Chinese Center for Disease Control and Prevention and the China Meteorological data Network. Spearman correlation was used to analyze the relationship between HFMD incidence and meteorological factors. Multiple regression model and support vector regression (SVR) model were used to construct HFMD incidence prediction models respectively.A total of 615 840 cases of HFMD and 81 deaths were reported from 2013 to 2019. The average annual incidence rate was 107.31/10Relative humidity has the greatest influence on the incidence of HFMD. The fitting value of SVR model is in good agreement with the actual value, which is valuable in predicting the incidence of HFMD in Sichuan Province.

Purpose Idiopathic Asthenozoospermia (AZS) is a common symptom of male infertility described as reduced forward motility or absence of sperm motility. The PATE1 is generally expressed in male genital tract and related to sperm development, maturation and fertilization. However, the single nucleotide polymorphisms (SNPs) of the PATE1 gene which contribute to AZS were still unknown. For this reason, the possible association between the single nucleotide polymorphisms of the PATE1 gene and idiopathic asthenozoospermia was investigated in this research. Methods 108 idiopathic asthenozoospermia were screened by karyotype analysis, detection of Y microdeletions and mutations in 5 other genes from 140 clinical AZS. The sequence analyses of the PATE1 gene were conducted in 108 idiopathic asthenozoospermia and 106 fertile men with normospermic parameters in Sichuan, China. Results In this study, a total 108 patients without chromosomal abnormalities, Y microdeletions and selected genes mutation were confirmed. The 1423G (odds ratio [OR] 1.939, 95% confidence interval [CI] 1.320–2.848, P=0.001) was found to be increased significantly in idiopathic asthenozoospermic patients compared with their fertile counterparts. This mutation substitutes a highly conserved glutamic to arginine at the position of the 47th amino acid which was shown to be located on the flank of the pleated sheet domain in PATE1 protein by the 3D model given by the Protein Model Portal (PMP). Moreover, PolyPhen-2 analysis predicted that this variant was "probably damaging". Conclusions These results suggested that PATE1 variant (A1423G) was probably one of the high risk genetic factors for idiopathic asthenozoospermia among males in Sichuan, China.

To investigate the association of a very common mutation of c.144delC in the aurora kinase C (AURKC) gene with idiopathic teratozoospermia in Chinese infertile men in Sichuan.Using polymerase chain reaction (PCR) and next-generation sequencing, we analyzed the correlation between c.144delC polymorphism of the AURKC gene and male infertility in 98 idiopathic teratozoospermia patients in comparison with 162 normal fertile men.Neither c.144delC mutation nor other meaningful mutations were detected in the AURKC gene in the 98 idiopathic teratozoospermia patients or the 162 normal controls.Teratozoospermia is not correlated with c.144delC mutation in the AURKC gene in the men of the Sichuan area. Therefore, large-scale genotyping of the AURKC gene may not be necessary clinically among Chinese patients with idiopathic teratozoospermia.目的: 位于极光激酶C(AURKC)基因外显子区域的突变位点c.144delC在北非等地区的男性畸型精子症人群中十分常见，本试验主要探讨这个位点的基因多态性(SNP)与中国四川地区汉族男性畸形精子症的相关性。方法: 采用聚合酶链反应 (PCR)和二代测序的方法,分析98例畸形精子症患者和162例正常男性中AURKC基因的c.144delC多态性位点与男性不育的相关性。结果: 在98例典型男性畸型精子症和162例对照组中，均未发现c.144delC突变位点以及其他有义突变。结论： 综合分析本实验数据并结合国外研究得出，四川地区男性畸形精子症可能与AURKC基因的c.144delC突变没有相关性。因此，在中国临床上对畸形精子症的男性人群大规模开展AURKC基因型的检测可能并不是十分必要的。.

Objective To investigate the distribution of HPV subtypes and analyze variation in infection trends during a 6-year period in Sichuan Province, China. Methods A cross-sectional observational study was conducted at a center in Chengdu between January 1, 2009, and December 31, 2014. Patients with at least one type of cervical disease confirmed by histology and cytology were eligible for inclusion. Cervical specimens were tested for the presence of high-risk and low-risk HPV subtypes by reverse membrane hybridization. Results Among 10 682 participants, 3370 women (31.5%) were infected with HPV. The most frequently detected high-risk genotypes were HPV16 (n = 791; 27.1%), HPV58 (n = 476; 16.3%), HPV33 (n = 273; 9.4%), HPV52 (n = 244; 8.4%), and HPV18 (n = 201; 6.9%). The most frequently detected low-risk genotype was HPV6 (n = 703; 40.8%). The detection rates of HPV33 (from 7.9% to 10.2%) and HPV58 (from 14.0% to 16.7%) increased over the 6-year period, whereas those of HPV16 (from 32.3% to 24.9%) and HPV18 (from 10.0% to 6.2%) decreased. The prevalence of HPV infection was highest among women aged 21–25 years (χ2 = 191.189; P Conclusion HPV58 and HPV33 were the most prevalent subtypes in Sichuan. Changes in the prevalences of infection with different HPV subtypes have been identified.

Idiopathic azoospermia and oligospermia are one of the most important reasons for male infertility. Abnormal karyotype and azoospermia factor (AZF) microdeletion are two widely acknowledged reasons, but the most causes remain unclear. Y chromosome, as the male-specific chromosome, is closely related to the development of male reproductive system. To understand better the etiology of idiopathic azoospermia and oligospermia, we investigated the possible association between Y-haplogroup distributions and susceptibility to idiopathic azoospermia and severe oligospermia. Peripheral blood was collected from 193 men with normal reproductive history, 193 men with idiopathic azoospermia, and 72 men with idiopathic severe oligospermia. All the subjects underwent karyotyping and AZF deletion analysis to screen out those with AZF deletion and abnormal karyotype. The comparison of Y-haplogroup distribution between experimental group and control group was performed with SPSS V.18.0 software. Significant difference of Y-haplogroup distribution was observed in D1*, F*, K*, N1* and O3*(P=0.032, 0.022, 0.009, 0.009, 0.017

Numerical chromosome anomaly was one of the most important kinds of human chromosme diseases by induc-ing pregnancy loss, miscarriage, infant death, congenital malformations and nerve damage. The present study was to estab-lish a rapid, reliable and reasonable multicolor primed in situ labeling (PRINS) protocol for diagnosing numerical anomaly in human chromosome. First, nuclei of cultured lymphocytes and sperms were labeled with the method of PRINS, and then nuclei of cultured lymphocytes, sperms and other specimen were labeled with the method of updated non-ddNTP-blocking multicolor PRINS technique. The labeling effect of different target sequences and the feature of different fluorochromes were evaluated by experiment. Meanwhile, several parameters of PRINS were optimized to obtain more homogeneous and stable labeling effect. At last, the applicative value of PRINS was evaluated by comparing the clinical effect and labeling characteristics between FISH probe and PRINS. In the present study, several chromosomes were simultaneously marked successfully in the same sperm nucleus within 2.5 hours. And the frequency of one-color-labeling reached 99%. The many advantages, compared with FISH, make PRINS become the first choice in diagnosing diseases related to numerical anomaly in human chromosome.

Tandem repeats (TRs) are associated with dis-ease genes, play an important role in evolution and are important in genomic organization and function. Much research has been done on de-scriptions of properties of tandem repeats, such as copy-number, period, etc, and correlation be-tween mutations within tandem repeats and dis-ease. This project aims to detect some differ-ences which may exist within the features of dif-ferent tandem repeats associated with disease in human whole-genome. The features of tandem repeats associated with diabetes genes were compared to the counterparts of non-diabetes disease genes.

To assess the association between glutathione-S-transferase gene polymorphisms GSTT1, GSTM1 and GSTP1 and onset of azoospermia.Multi-PCR was used to detect GSTM1 and GSTT1 gene deletions. Polymorphisms of GSTP1 were determined with restriction fragment length polymorphism (RFLP) method in 236 azoospermia patients and 142 healthy fertile male controls.The frequency of M1 (-/-) and P1 (Ile/Val or Val/Val) genotype was 24.65% in the control group, which was significantly higher than that of the patient group (15.68%, P=0.031). Frequency of M1 (-/-), T1 (+/+) and P1 (Ile/Val or Val/Val) genotype was 12.68% in the control group, which was significantly higher than that of the patient group (5.51%, P=0.014).The M1(-/-) and P1(Ile/Val or Val/Val) genotype and the M1(-/-), T1(+/+) and P1 (Ile/Val or Val/Val) genotype are associated with reduced risk of azoospermia in ethnic Chinese Han population.

Idiopathic azoospermia and oligospermia are one of the most important reasons for male infertility. Abnormal karyotype and azoospermia factor (AZF) microdeletion are two widely acknowledged reasons, but the most causes remain unclear. Y chromosome, as the male-specific chromosome, is closely related to the development of male reproductive system. To understand better the etiology of idiopathic azoospermia and oligospermia, we investigated the possible association between Y-haplogroup distributions and susceptibility to idiopathic azoospermia and severe oligospermia. Peripheral blood was collected from 193 men with normal reproductive history, 193 men with idiopathic azoospermia, and 72 men with idiopathic severe oligospermia. All the subjects underwent karyotyping and AZF deletion analysis to screen out those with AZF deletion and abnormal karyotype. The comparison of Y-haplogroup distribution between experimental group and control group was performed with SPSS V.18.0 software. Significant difference of Y-haplogroup distribution was observed in D1*, F*, K*, N1* and O3*(P=0.032, 0.022, 0.009, 0.009, 0.017,0.05). The results suggest that Y chromosome haplogroup plays a important role in spermatogenic impairment.

To investigate the prevalence and subtypes of microdeletions in azoospermia factor (AZF) region in infertile men from Sichuan in order to correlate genotypes with phenotypes.Multiplex-PCR was used to detect sequence tagged sites (STS) of AZF microdeletions in 1011 infertile men including 713 cases of non-obstructive azoospermia and 298 cases of severe oligospermia.The overall prevalence of microdeletions was 10.48% (106/1011), and the deletion rates were 11.08% (79/713) in non-obstructive azoospermia and 9.06% (27/298) in severe oligospermia. Complete AZFa or AZFb deletions were associated with azoospermia, whereas AZFc deletion (60.38%) was the most frequent deletion. The deletions were associated with variable spermatogenic phenotypes, and 37.50% of the patients with a deletion had sperms in the ejaculate. A mild decline in sperm concentration was found in two cases with partial AZFb deletion and one case with partial AZFb-c deletion.Deletions of the AZFc region were most commonly found in our patients. All cases with complete AZFa or AZFb deletions and a proportion of cases with AZFc deletion were associated with azoospermia. Our study has provided more insight into the genotype-phenotype correlation, and confirmed that Yq microdeletion screening has a significant value for the diagnosis for male infertility.

To investigate the effect of dihydroartemisinin (DHA) on the BCR/ABL fusion gene in leukemia K562 cell.K562 cells were cultured in vitro. The rate of proliferation inhibition of cells treated with various concentrations of DHA were determined by using [3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide] (MTT) method. Expression of BCR/ABL fusion gene was analyzed by reverse transcription(RT-PCR) before and after DHA treatment. Apoptosis of K562 cells was detected by flow cytometry.The growth of K562 cells was inhibited when the concentrations of DHA were 10-160 umol/L. With the added dose of DHA, the growth inhibition was remarkable, with the rate of inhibition risen from 52.76% to 94.65%. The expression of BCR/ABL fusion gene, as detected by RT-PCR after incubating the K562 cells with 20 umol/L DHA, measured as ΔCt = 4.45 ± 0.25 after 12 h and ΔCt = 5.23 ± 0.21 after 24 h, which was significantly lower compared with that of the control ( ΔCt = 4.23 ± 0.21, P0.05).DHA can inhibit the proliferation of leukemia K562 cells and facilitate the induction of apoptosis by downregulating the expression of BCR/ABL fusion gene.

Concanavalin A (ConA), a mannose/glucose-binding legume lectin, has been reported to induce tumor cell death via a mitochondria-mediated autophagic pathway; however, the precise mechanism by which induces cell death remains to be discovered. In this study, we simulated the three-dimensional structure of ConA monomer, its dimer, and tetramer forms and reported its molecular dynamics simulations and phylogenetic analysis. Subsequently, we showed that ConA possessed remarkable antiproliferative effects on HepG2 cells. Further data showed that there was a link among its hemagglutinating, sugar-binding, and antiproliferative activities. In addition, we found that ConA induced apoptosis in HepG2 cells. Then, we demonstrated that the treatment of ConA caused mitochondrial transmembrane potential (MMP) collapse, cytochrome c release, and activation of caspase. In conclusion, we demonstrate that there is a positive correlation between carbohydrate-binding activity and antiproliferative activity of ConA. In addition, we confirm that ConA induces HepG2 cell death through a mitochondrial apoptotic pathway.

Tandem repeats (TRs) are associated with disease genes, play an important role in evolution and are important in genomic organization and function. Much research has been done on descriptions of properties of tandem repeats, such as copy-number, period, etc, and correlation between mutations within tandem repeats and disease. This project aims to detect some differences which may exist within the features of different tandem repeats as-associated with disease in human whole-genome. The features of tandem repeats associated with diabetes genes were compared to the counterparts of non- diabetes disease genes by comparisons of chromosome properties; chromosome 12 was detected as a representative of all human 24 chromosomes. A database, TRbase, to study the associations between disease genes and previously uncharacterized tandem repeats was ex-tended to whole human genomes. It was found that the percentage match and indels (insets and deletions) of TRs of diabetes genes were significantly different to the non-diabetes disease genes.

To establish a liquid chip technology to detect Y chromosome microdeletions in Chinese infertile males with azoospermia or oligozoospermia.Multiplex PCR and liquid chip technology were used to detect the Y chromosome microdeletions in AZF region in 178 infertile patients with azoospermia and 134 infertile patients with oligozoospermia as well as 40 fertile control men.Forty out of 312 patients (12.8%) were found to have deletions in AZF region. The microdeletion frequency was 14%(25/178) in the azoospermic group, 9.6%(11/114) in the oligospermic and 20%(4/20) in the severe oligospermic group.The authors developed a high-throughput, fast and simple assay to screen the AZF region microdeletions of Y chromosome.

To study the feasibility of simultaneous detection for several chromosomes with optimized triple-color primed in situ labelling (PRINS) protocol in cultured peripheral blood lymphocytes.Pre-test of gonosome detection with dual-color PRINS protocol was performed to explore and optimize the order and condition of PRINS primers. A peripheral blood sample from a Klinefelter's syndrome patient (47, XXY) had also been studied with optimized triple-color PRINS to prove the correspondence between the number of signals and chromosomes.Chromosome 18, X and Y had been simultaneously and specifically marked within 3 hours. The frequency of successful labeling reached 90% both in dual-color and triple-color test. Two chromosome X had been correctly showed in lymphocyte sample of Klinerfelter's syndrome.Numerical chromosome anomalies could be rapidly and exactly detected with this non-ddNTP-blocking multicolor PRINS protocol in peripheral blood lymphocytes. The results of in situ labeling are much clearer with inner control.

To determine microdeletion loci and the characteristic of Y chromosome azoospermia factor(AZF) associated with Chinese idiopathic azoospermia or severe oligozoospermia and hence to provide a theoretic basis for gene diagnosis of AZF microdeletion in Chinese infertility men.The subjects of this study included 134 cases of azoospermia and 118 severe oligozoospermia, and 210 healthy male controls. With multiplex PCR technique, an analysis of 15 sequence tag sites(STS) in AZFa, AZFb and AZFc microdeletion was performed.No microdeletion was detected in controls whereas 13 STS loci microdeletions existed in cases, including sY84 and sY86 in AZFa; sY121, sY123, sY124, sY127, sY134 and sy133 in AZFb; sY152, sY242, sY254, sY255 and sY157 in AZFc. Five azoospermia patients were involved in AZFa microdeletions, 7 azoospermia and 3 severe oligozoospermia patients in AZFb, and 14 azoospermia and 18 severe oligozoospermia patients in AZFc. The prevalence rates of microdeletion in AZFa, AZFb and AZFc were 2.0%,4.0% and 12.7% respectively. The microdeletion rate showed statistically significant difference between the cases and controls.This study revealed an association between the microdeletion of 13 STS loci of AZF region and the idiopathic azoospermia or severe oligozoospermia in Chinese. There is no evidence to identify the genetic polymorphism of the above STS loci. The frequency and distribution characteristic of AZF microdeletion are similar to those of Caucasians. As candidate loci the 13 STS are useful in clinical gene diagnosis for the detection of AZF microdeletion in Chinese idiopathic azoospermia and severe oligozoospermia.