Persistent left superior vena cava is a rare venous variant that is often combined with cardiovascular malformations. In thoracic surgery, especially mediastinal tumor resection, neglect of this variant may make the surgery difficult and risky, and careful preoperative imaging interpretation and adequate preoperative evaluation play an important role in the perioperative safety of the patient. In this paper, we reported a case of a 17-year-old female patient with a persistent left superior vena cava combined with mediastinal tumors. She was successfully discharged 5 days after thoracoscopic surgery, and after 3 years of postoperative follow-up, no tumor recurrence was observed.

Accurate timing of myelination is crucial for the proper functioning of the central nervous system. Here, we identified a de novo heterozygous mutation in TMEM63A (c.1894G>A; p. Ala632Thr) in a 7-year-old boy exhibiting hypomyelination. A Ca²⁺ influx assay suggested that this is a loss-of-function mutation. To explore how TMEM63A deficiency causes hypomyelination, we generated Tmem63a knockout mice. Genetic deletion of TMEM63A resulted in hypomyelination at postnatal day 14 (P14) arising from impaired differentiation of oligodendrocyte precursor cells (OPCs). Notably, the myelin dysplasia was transient, returning to normal levels by P28. Primary cultures of Tmem63a^-/- OPCs presented delayed differentiation. Lentivirus-based expression of TMEM63A but not TMEM63A_A632T rescued the differentiation of Tmem63a^-/- OPCs in vitro and myelination in Tmem63a^-/- mice. These data thus support the conclusion that the mutation in TMEM63A is the pathogenesis of the hypomyelination in the patient. Our study further demonstrated that TMEM63A-mediated Ca²⁺ influx plays critical roles in the early development of myelin and oligodendrocyte differentiation.
Animals ; Cell Differentiation/physiology* ; Oligodendroglia/metabolism* ; Mice, Knockout ; Mice ; Male ; Myelin Sheath/metabolism* ; Humans ; Child ; Cells, Cultured ; Oligodendrocyte Precursor Cells/metabolism*

Objective:To detect the enhancer of zeste 2 polycomb repressive complex 2 subunit ( EZH2) in glioma patients and analyze its value in disease and prognosis evaluation. Methods:Patients with glioma (glioma group, 90 cases) and patients with benign brain diseases (control group, 45 cases) in Beichen District Hospital of Traditional Chinese Medicine from January 2017 to December 2018 were selected as the research subjects. Methyl-specific PCR was employed to detect the methylation status of the EZH2 gene of the patients in the glioma group (tumor tissue, adjacent normal tissue), the control group (brain tissue), and in glioma cell lines (SHG-44, U251, U87, and CRT). The relationship between EZH2 gene unmethylation and clinicopathological factors was analyzed. The survival difference between the unmethylated and methylated EZH2 gene in tumor tissue of glioma patients was analyzed by Kaplan-Meier survival analysis. Results:The unmethylated rate of the EZH2 gene in the tumor tissue of the glioma group (68.9%) is significantly higher than that of the control group (5.6%) and in the normal tissue adjacent to the tumor (4.4%), and the differences are statistically significant (all P < 0.05). The EZH2 gene of glioma cell lines such as SHG-44, U251, U87, and CRT is unmethylated. There are significant differences in the unmethylated rate of the EZH2 gene in the tumor tissue of the glioma group in terms of intracranial hypertension, maximum tumor diameter, tumor number, and WHO grade (all P < 0.05). The unmethylated rate of the EZH2 gene in patients with intracranial hypertension, tumor maximum diameter ≥ 5 cm, multiple and grade Ⅲ + Ⅳ gliomas is significantly higher than that without intracranial hypertension, tumor maximum diameter < 5 cm, single and grade Ⅰ + Ⅱ gliomas, and the difference is statistically significant (all P < 0.05). The median survival time of EZH2 unmethylated patients is (13.45 ± 3.15) months, and the median survival time of EZH2 methylated patients is (19.45 ± 3.56) months. The median survival time of EZH2 methylated patients is significantly higher than that of unmethylated patients (Logrank = 30.084, P < 0.05). Conclusions:EZH2 is hypomethylated in glioma tumor tissue and can be used as a molecular marker for glioma disease and prognosis assessment

Objective:To study the Epstein-Barr virus (EBV) activity and its clinical characteristics in patients with hemorrhagic fever with renal syndrome (HFRS). Methods:From January 2016 to August 2017, patients with HFRS who were hospitalized in the First Affiliated Hospital of Harbin Medical University were routinely tested by EBV serology, and were divided into two groups according to their presence or absence of EBV infection, namely EBV active group and non-EBV active group. The clinical data between the two groups were compared and analyzed by SPSS 18.0.Results:A total of 188 HFRS patients were enrolled, including 73 cases in EBV active group and 115 cases in non-EBV active group. The EBV active rate of HFRS patients was 38.83% (73/188). The incidences of lumbago [57.53% (42/73) vs 42.61% (49/115)], abdominal pain [42.47% (31/73) vs 20.00% (23/115)], skin and mucosa congestion [57.53% (42/73) vs 39.13% (45/115)], and conjunctiva edema [50.68% (37/73) vs 28.70% (33/115)] in EBV active group were significantly higher than those in non-EBV active group (χ 2 = 3.983, 11.008, 6.083, 9.239, P < 0.05). There were 10, 7 and 43 patients with acute kidney injury (AKI) stage 1, 2 and 3 in EBV active group and 5, 13 and 53 patients in non-EBV active group. Degree of AKI in EBV active group was higher than that in non-EBV active group, and the difference was statistically significant (χ 2 = 12.615, P < 0.05). In EBV active group, the proportion of patients whose renal function recovery over 15 days [23.29% (17/73)] and white blood cell count [11.26 (3.39 ~ 54.23) × 10 9/L] were significantly higher than those in non-EBV active group [6.96% (8/115), 10.03 (2.91 ~ 66.99) × 10 9/L], and the differences were statistically significant (χ 2 = 10.330, Z = - 2.003, P < 0.05). Conclusion:HFRS patients may cause latent EBV activity, complicate their clinical features, cause severe renal damage and prolong the recovery time of renal function.

The infectious disease outpatient service as a frontier is an important fulcrum of public health service. Its standardized construction is an important support for ensuring medical safety, reducing nosocomial infections, and controlling the epidemic of infectious diseases. The sub-specialty outpatient service of infection diseases includes fever outpatient service, intestinal outpatient service, tuberculosis outpatient service, AIDS outpatient service, liver disease outpatient service, etc. According to the characteristics of each subspecialty outpatient service and combining with clinical practice, we elaborated the setting norms of subspecialty outpatient service for common infectious diseases from the perspective of planning and design, building layout, equipment and facilities configuration, staffing, daily management and demonstration.

Objective    To evaluate the prognostic value of preoperative inflammatory indexes in patients with local-advanced esophageal squamous cell carcinoma. Methods    We retrospectively analyzed the clinical and prognostic data of 150 local-advanced esophageal squamous cell carcinoma patients who were treated by esophagectomy in Guangyuan Central Hospital from July 2014 to July 2015. There were 128 males and 22 females with average age of 62.23±8.48 years. The optimal cutoff value was determined by receiver operation characteristics (ROC) curve analysis. Patients were grouped according to the optimal cutoff values (NLR=3.49, PLR=152.28, MLR=0.36). Log-rank test, and multivariate Cox logistic regression modelling were used to assess the simultaneous influences of prognostic factors for survival outcomes after esophagectomy. Results    The patients with higher ratio (NLR>3.49, PLR>152.28, MLR>0.36) had significantly shorter median progression free survival (PFS) and lower postoperative recurrent rate than those of the patients with lower ratio. The stratified analyses found that thelymph node staging and postoperative recurrent rate were positively correlated with the higher ratio. However, the tumor differentiation was negatively correlated with it. In univariate analyses, patients with preoperative NLR>3.49, PLR>152.28 and MLR>0.36 had a poorer prognosis. Furthermore, in multivariate analyses we found MLR>0.36 was also significantly associated with a decreased postoperative recurrent rate (HR=12.945, 95%CI 2.31 to 72.548, P=0.00). Conclusions    The preoperative NLR, PLR and MLR are useful prognostic markers in patients with stage ⅢA-ⅣA esophageal squamous cell carcinoma who conducted esophagectomy.

At present, there is still controversy over sexual transmission as one important mode of transmission for viral hepatitis, and many epidemiological investigations have confirmed that the transmission of viral hepatitis is closely associated with sexual contact in high-risk adults. This article elaborates on the current status of epidemiological studies on viral hepatitis A, B, and C and discuss related etiologies and pathogeneses, in order to raise the awareness of sexual transmission of viral hepatitis.

Objective To explore the application method and value of mind mapping in the clinical teaching of general practitioners for the purpose of improving the teaching qualities. Methods A total of 60 GPs were divided into the test group and control group, undergoing the mind mapping teaching and tra-ditional teaching, respectively. The clinical knowledge achievements were compared in the two groups, and the results were analyzed. At the same time, a questionnaire was conducted. Results The difference between two groups in theoretical teaching was statistically significant (P<0.05), and there was no significant difference in physical examination (P>0.05). In addition, the results of the questionnaire survey showed that the test group was better than the control group in medical knowledge, self-learning ability, interpersonal communication ability, team cooperation ability and other dimensions. Conclusion Mind mapping is an effective teaching tool for general practitioners.

Objective To identify the pathogenesis gene mutation of a pedigree with Cockayne syndrome.Methods The peripheral blood samples of the patient and his family members were collected and the genomic DNA was then extracted.Whole exome sequencing(WES)was performed for proband′s DNA.The disease-causing mutations were identified by bioinformatics analysis and pedigree analysis. Meanwhile,the mutations were confirmed by Sanger sequencing.Results Two novel mutations in ERCC8 gene,including c.400-2A >G and c.394_398delATGTA(p.L132fs)were identified in proband.The splicing mutation originated from his father and changed the splice acceptor site AG to GG, thus possibly caused alternative splicing.The c.394_398delATGTA(p.L132fs)frameshifting mutation was inherited from his mother.The proband′s sister also carried the same compound heterozygous mutation and had the same phenotype as proband.Conclusion The pathogenesis ERCC8 gene mutation of this pedigree with Cockayne syndrome was identified by using whole exome sequencing.

Objective To compare the efficacy and safety of simeprevir-based (SMV) or telaprevir-based (TVR) triple therapy [SMV + Pegylated interferon alfa (PegIFNα) and ribavirin (RBV) versus TVR + PegIFNαand RBV] in patients with hepatitis C virus (HCV) genotype 1 infection .Methods A systematic literature searching was conducted in multiple online databases to identify relevant studies .The sustained virologic response rate at 12 (SVR12) and 24 weeks (SVR24) after end of the treatment were used as the efficacy endpoints .The rate of treatment related adverse events (AEs) ,discontinuation due to AEs and overall treatment discontinuation were used as safety endpoints . Patients were divided into multiple subgroups according to the previous treatment history to further compare the efficacy of the two treatment regimen .Statistical analyses were performed using the RevMan 5 .3 software .The Jajad score scale and the Newcastle-Ottawa scale were employed to evaluate the quality of included studies .Results A total of 5 clinical studies including 1666 HCV genotype 1 patients were included in this study .The pooled results showed that SVR12 rates in SMV group and TVR group were 67 .6％ and 68 .3％ , respectively .There was no significant difference in overall SVR12 rate between SMV and TVR groups (OR=0 .95 ,95％ CI:0 .76 -1 .18 , P=0 .65) .There was no significant heterogeneity among studies (P=0 .84 ,I2 = 0％ ) .For SVR24 rate ,the average SVR24 rate in SMV group was 78％ ,which was lower than that in TVR group of 84％ .However ,there was no significant difference in overall SVR24 rate between SMV and TVR groups (OR=0 .71 ,95％ CI:0 .42-1 .20 ,P=0 .20) .Meanwhile ,there was no significant heterogeneity among studies (P= 0 .69 ,I2 = 0％ ) .The subgroup analysis also showed that there was no significant difference in efficacy between SMV and TVR-based triple therapy for treatment-native patients ,prior partial response ,relapse ,and prior null response patients (all P>0 .05) .However , the pooled analysis indicated that both SMV-based and TVR-based triple therapies were most effective for the treatment-naive patients(SMV :85 .7％ ,TVR :85 .6％ ) .For the safety endpoints ,the incidence rate of anemia was significant lower in SMV group compared to TVR group (OR=0 .30 ,P<0 .001) .For the rate of overall treatment discontinuation ,there was no statistically significant difference between SMV and TVR group (OR=0 .48 ,P=0 .12) .Conclusions This meta-analysis suggests that the efficacy of SMV-based triple therapy is non-inferior to TVR-based triple therapy .However ,the SMV-based triple therapy is more tolerable and has a lower incident rate of anemia and discontinuation due to AEs compared to TVR-based triple therapy .