Objective: To evaluate the value of next-generation sequencing (NGS) in the prevention and management of thalassemia. Methods: A systematic search was performed in eight databases including China Biomedical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journals Database, Wanfang database, PubMed, EMBASE, Web of Science, and Cochrane Library from the inception to 1 June 2022. Stata 17.0 and Review Manager 5.4 were used for the meta-analysis. Results: Nine studies containing 14794 participants were included in the meta-analysis. Compared with the routine genetic testing (including Gap-PCR and reverse dot blot), NGS had higher detection rates in screening thalassemia (RR 1.22, 95% CI 1.13-1.31, P<0.01), particularly for the α-thalassaemia mutation carriers (RR 1.24, 95% CI 1.07-1.44, P<0.01). However, no significant difference was found in the screening of β-thalassemia (RR 1.10, 95% CI 0.99-1.23, P>0.05). Conclusions: Compared with routine genetic testing, NGS had a higher detection rate in general, particularly in the detection of α-thalassemia.

Melanoma is a highly invasive and lethal skin malignant tumor derived from melanocytes. It has the characteristics of high early metastasis and high mortality. In recent years, with the in-depth study of the pathogenesis of melanoma, it has been found that epigenetic modification, especially DNA methylation, is considered to be a universal intrinsic feature of melanoma development and evolution. This article reviews the research progress of abnormal DNA methylation genes in melanoma in detail, and summarizes the biomarker effect of DNA methylation genes, suggesting that the detection of abnormal DNA methylation genes in melanoma patients is hopeful as an early screening index and diagnostic marker for melanoma patients.

Melanoma is a highly invasive and lethal skin malignant tumor derived from melanocytes. It has the characteristics of high early metastasis and high mortality. In recent years, with the in-depth study of the pathogenesis of melanoma, it has been found that epigenetic modification, especially DNA methylation, is considered to be a universal intrinsic feature of melanoma development and evolution. This article reviews the research progress of abnormal DNA methylation genes in melanoma in detail, and summarizes the biomarker effect of DNA methylation genes, suggesting that the detection of abnormal DNA methylation genes in melanoma patients is hopeful as an early screening index and diagnostic marker for melanoma patients.

BACKGROUND:Induced pluripotent stem cel technology have solved the contradiction between the ethics and immune rejection, and this high-efficient and safe technique is becoming the mainstream of today’s research. OBJECTIVE:To comprehensively review the safety and application of induced pluripotent stem cel s.METHODS:A computer-based online retrieval of PubMed and CNKI was performed to search relevant papers published from January 2006 to April 2016, with the key words of“induced pluripotent stem cel , reprogramming, clinical application, safety, transcription factor, disease mode”in English and Chinese, respectively. RESULTS AND CONCLUSION:In recent years, research on induced pluripotent stem cel s has attracted much attention from the scientific community and the medical community, and this technique has successful y gained induced pluripotent stem cel s and overcome the problems of immunity and ethics. However, it is limited to the theoretical and laboratory research due to the inability to solve the safety, efficiency and re-differentiation mechanism of induced pluripotent stem cel s. Therefore, we are faced with enormous difficulties and chal enges, which involve al aspects of basic research, including how to safely and effectively induce the differentiation of induced pluripotent stem cel s into the desired cel type and how to establish a suitable disease model as wel as a high-throughput drug screening platform.

Objective To investigate the influence of total progressively motile sperm count(TPMSC) after treatment on clinical outcomes of intrauterine insemination(IUI) with the husband′s sperm in ovulation-promoting cycles.Methods The clinical data in 4179 cases undergoing IUI with the husband′s sperm in ovulation-promoting cycles were retrospectively analyzed.The correlation between clinical pregnancy rate and TPMSC was analyzed.Results Among all the clinical data,TPMSC was to 100×106 in occasional live sperm.TPMSC<0.15×106 was in 15 cases,1 case had pregnancy (live sperm was occasionally seen on IUI day after sperm processing).Ten cases of TPMSC >60×106 had no pregnancy.A total of 4 154 cases of TPMSC (0.15-60.00)×106 were analyzed.The female age,duration of infertility,number of follicles and endometrial thickness(EDM) had no statistical differences among various groups.The clinical pregnancy rate was 13.5%(576/4 154),the group with the highest clinical pregnancy rate was (5.00-<10.00)×106.But there was no statistically significant difference in clinical pregnancy rate among groups(P=0.133).Conclusion Performing IUI in PMSC (0.15-60.00)×106 after processing can get preferable pregnancy rates.

Objective: To explore the effects of allogeneic bone marrow mesenchymal stem cells (BMSCs) on polarization of peritoneal macrophages isolated from rats with sepsis induced by endotoxin/lipopolysaccharide (LPS). Methods: (1) BMSCs were isolated, cultured and purified from 5 SD rats with whole bone marrow adherent method. The third passage of cells were collected for morphologic observation, detection of expressions of stem cell surface markers CD29, CD44, CD45, and CD90 with flow cytometer, and identification of osteogenic and adipogenic differentiation. (2) Another 45 SD rats were divided into sham injury group (SI, n=5), LPS control group (LC, n=20), and BMSCs-treated group (BT, n=20) according to the random number table. Rats in groups LC and BT were injected with LPS (5 mg/kg) via tail vein to induce sepsis; rats in group SI were injected with the same amount of normal saline to simulate the damage. At post injury hour (PIH) 1, rats in group BT were given 1 mL BMSCs (2×10⁶/mL) via tail vein injection; rats in another two groups were injected with equal volume of phosphate buffer saline. Five rats in group SI at PIH 24 and in groups LC and BT at PIH 6, 12, 24, and 48 were sacrificed to harvest lung tissue for pathological observation with HE staining. In addition, rats in group SI at PIH 24 and in groups LC and BT at PIH 24 and 48 were simultaneously performed with intraperitoneal injection of low-glucose DMEM. Then peritoneal fluid was harvested to culture peritoneal macrophages. Flow cytometer was used to assess the positive expression of cell makers of macrophages including CD68 (making gate), CD11c, and CD206 in group SI at PIH 24 and in groups LC and BT at PIH 24 and 48. Data were processed with one-way analysis of variance and LSD test. Results: (1) The third passage of cells showed uniform fiber-like shape similar to fibroblasts. These cells showed positive expressions of CD29, CD44, CD90 and weak positive expression of CD45. They were able to differentiate into osteoblasts and adipocytes. These cells were identified as BMSCs. (2) At PIH 24, the structure of pulmonary alveoli of rats in group SI was clear and complete with no congestion or inflammatory cell infiltration. At PIH 6, the structure of pulmonary alveoli of rats in groups LC and BT was clear with a small amount of inflammatory cell infiltration, slight congestion and pulmonary interstitial thickening. At PIH 12, the inflammatory responses in lung tissue of rats in group LC were more severe than those in group BT with a large amount of inflammatory cell infiltration, serious congestion, and obvious pulmonary interstitial thickening. The pathological results of rats in group BT at PIH 12 was consistent with the results at PIH 6. At PIH 24, the pathological results of rats in groups LC and BT were similar to the results at PIH 12. At PIH 48, the structure of pulmonary alveoli tissue of rats in group LC was still severely disrupted, with a large number of inflammatory cell infiltration and congestion in lung tissue, but pulmonary interstitial thickening was slightly alleviated than before. The condition of rats in group BT nearly recovered to that in group SI. (3) At PIH 24, the positive expression rate of CD11c in peritoneal macrophages of rats in group LC [(83±10)%] was close to that in group BT [(87±7)%, P>0.05], and they were both significantly higher than the rate in group SI [(55±12)%, with P values below 0.01]. The positive expression rate of CD11c in peritoneal macrophages of rats in group LC [(59±11)%] at PIH 48 was close to that in group SI at PIH 24 (P>0.05), and they were both significantly higher than the rate in group BT [(20±11)%] at PIH 48 (with P values below 0.01). At PIH 24, the positive expression percentages of CD206 in peritoneal macrophages of rats were similar among the three groups (with P values above 0.05). The positive expression percentage of CD206 in peritoneal macrophages of rats in group SI at PIH 24 was close to that in group BT at PIH 48 (P>0.05), and they were both significantly lower than the percentage in group LC at PIH 48 (with P values below 0.01). Conclusions BMSCs can reduce the pathological inflammatory responses in the lung of rats with sepsis and inhibit peritoneal macrophages from polarizing into M1 phenotype, whereas they can not promote macrophages to polarize into M2 phenotype.

Objective To study the relationship between bronchial asthma and smoking status in Chinese people.Methods Asthma epidemiological survey and stratified-cluster-random method survey were performed in residents over 14 years in 8 provinces (cities) of China from February 2010 to August 2012.Asthma was diagnosed based upon case history,clinical signs and lung function test.Smoking status was investigated by questionnaire.Results Sampling population was 180 099 and 164 215 were valid.A total of 2 034 subjects were diagnosed as asthma including 79 692 men and 84 523 women.The overall prevalence rate of asthma was 1.24％ (2 034/164 215).Smokers were 23.8％ (39 137/164 215) in the whole population.Smokers were 34.5％ (702/2 034) in asthmatic patients,compared with 23.7％ (38 435/ 162 181) in no-asthmatic population.The incidence of asthma was 1.79％ and 1.06％ in smokers and nonsmokers respectively (P ＜0.001),suggesting that OR of smoking was 1.70 (95％ CI 1.55-1.86,P ＜ 0.001).According to asthma control test (ACT) score,the level of asthma control in non smoking group was higher than that in smoking group(43.2％ vs 35.3％).The times of hospitalization due to acute exacerbations (0.51 vs 0.41 events/person/year),total hospitalization rate (27.35 ％ vs 20.12％),annual emergency room visits (0.80 vs 0.60 events/person/year) and emergency room visit rate (31.77％ vs 24.47％) were all much higher in smoking asthmatic patients than those in non smoking asthmatic patients,indicating that the level of asthma control in smoking patients was significantly worse than in non smoking patients.Conclusions The smoking rate in Chinese people over 14 years is still high.The prevalence rate of asthma in smokers is significantly higher than that of non-smokers.The level of asthma control in smokers is significantly worse than that in non smokers.

Objective To observe the clinical effect of combination of Tongxiening granule and Mesalazine on treating mild and moderate ulcerative colitis(UC) .Methods Totally 380 patients with mild‐to‐moderate UC diagnosed through endoscopy were allocated to the control group (n=190) and observation group(n=190) .For the observation group ,patients were remedied with the combination of Tongxiening Granules and the Mesalazine by oral administration for eight weeks ,meanwhile the control group only received the Mesalazine for eight weeks .The total effective rate of the two groups were statistically analyzed ,and the levels of ser‐um MMP‐2 and MMP‐9 before and after treatment in the two groups were measured .The expression of S100A12 and RAGE were detected by immunohistochemistry SP method .Results The total effective rate of the observation group and the control group was 94 .74% and 89 .47% respectively ,and the difference was statistically significant(P<0 .01) .After treatment ,the expression levels of MMP‐2 and MMP‐9 in the two groups were decreased ,additionally the expression levels in the observation group was lower than those in the control group ,and the difference was statistically significant (P< 0 .01) .After treatment ,the expression levels of RAGE and S100A12 in the observation group were decreased ,and there was a significant difference when compared with the control group(P<0 .01) .Conclusion Combined application of Tongxiening Granules and Mesalazine in treating patients with mild‐to‐mod‐erate UC could better improve clinical symptoms and bring better therapeutic effect than single use of Mesalazine .

Objective To explore the clinical value of interferon gamma release assays in early childhood diagnosis of latent tuberculosis infection.Methods 33 patients with suspected latent tuberculosis infection and 35 patients with active tuberculosis infection in our hospital from January 2012 to March 2013 were selected.During the same period selected 30 healthy children as a control group.Respectively were given sputum smear analysis,tuberculin skin test (TST)and vinterferon release assay (IGRA).Compare the positive rate of different methods. Results In suspected latent tuberculosis group,IGRA test results were significantly higher than TST and sputum smear method(P<0.05);in active tuberculosis infection group, IGRA test results were significantly higher than TST and sputum smear(P<0.05 );in healthy control group,TST test results were higher than the IGRA,it is because of patients had been vaccinated with BCG.Conclusion IGRA can be used as one way to diagnosis the latent tuberculosis infection.

BACKGROUND:At present, the development of reprogramming technology provides a wide prospect for stem cellresearch. Through the ectopic co-expression of reprogramming factors, the somatic cells can be reprogrammed to a pluripotent state, termed as induced pluripotent stem cells, which can avoid the ethical controversy faced in the research and application of embryonic stem cells. Also, we can generate patient-specific and disease-specific induced pluripotent stem cells, which significantly decrease immuno-rejection. However, reprogramming technology faces some chal enges, such as low efficiency and safety.
OBJECTIVE:Based on the characteristics of induced pluripotent stem cells and the principles of reprogramming, to detail the progress in reprogramming technology from five aspects, including cellresources, carriers, transcription factors, microRNA and signal transduction pathway. 
METHODS:A computer-based online retrieval was performed to search papers published form January 1990 to April 2013 in VIP periodical ful-text database, Wanfang periodical ful-text database, CNKI periodical ful-text database, PubMed database and Springer database with key words of“reprogramming, induced pluripotent stem cell, signal transduction pathway, epigenetics, microRNA, transcription factor, vector, somatic cell, smal molecule compound, safety”both in Chinese and English. After excluding objective-independent papers, 67 papers were included for further analysis.
RESULTS AND CONCLUSION:By exploring different cellresources, different carriers, various combination of transcription factors, microRNAs or inhibition of the signal transduction pathways, the reprogramming efficiency and safety have been improved greatly. However, currently, induced pluripotent stem cells stil could not meet the requirement of clinical application. To achieve the clinical application of induced pluripotent stem cells, it is urgent to explore the mechanism of reprogramming, and to optimize the programming strategy.