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 investigate the correlation between metabolic syndrome (MS), its different components and the risk of cholecystolithiasis and gallbladder polyp in Uygur population in rural areas of southern Xinjiang.Methods:This study was a prospective cohort study. A baseline survey was conducted in August 2016. A typical sampling method was used to select 10 476 Uygur people in rural areas of southern Xinjiang as the research objects. Baseline clinical data were collected, including demographic data such as age, gender, and education level, and laboratory examination indicators such as blood glucose and triglyceride levels. According to the MS diagnostic criteria of the relevant guidelines, 10 476 subjects were divided into the MS group (3 475 cases) and the non-MS group (7 001 cases). The incidence of cholecystolithiasis and gallbladder polyp was followed up in 2019, 2021 and 2023, respectively. Cox regression was used to analyze the correlation between MS, its different components and the risk of cholecystolithiasis and gallbladder polyp. Chi-square test and independent sample t test were used for statistical analysis. Results:The median follow-up time was 6.43 years in 10 476 subjects, and the overall cumulative incidence of cholecystolithiasis and gallbladder polyp was 5.43% (569/10 476). The cumulative incidence of cholecystolithiasis and gallbladder polyp in the MS group was 10.73% (373/ 3 475), which was significantly higher than that in the non-MS group (2.80% (196/7 001)); χ2= 284.62, P<0.001). The results of multivariate Cox regression analysis showed that, 41 to 59 years old ( HR=1.26, 95% confidence interval (95% CI): 1.03 to 1.54, P=0.025), ≥60 years old ( HR=1.88, 95% CI: 1.45 to 2.45, P<0.001), female ( HR=1.34, 95% CI: 1.13 to 1.60, P=0.001), MS ( HR=2.19, 95% CI: 1.59 to 3.01, P<0.001), hypertriglyceridemia ( HR=1.47, 95% CI: 1.18 to 1.83, P=0.001), hypertension ( HR=1.30, 95% CI: 1.04 to 1.62, P=0.023), and hyperglycemia ( HR=1.24, 95% CI: 1.01 to 1.52, P=0.041) were independent risk factors for cholecystolithiasis and gallbladder polyp. After the adjustment of age and gender, MS ( HR=3.39, 95% CI: 2.82 to 4.07, P<0.001), hypertriglyceridemia ( HR=2.37, 95% CI: 2.00 to 2.81, P<0.001), hypertension ( HR=2.00, 95% CI: 1.66 to 2.41, P<0.001), and hyperglycemia ( HR=1.86, 95% CI: 1.55 to 2.23, P<0.001) were still correlated with cholecystolithiasis and gallbladder polyp, and there was the srtongest correlation between MS and cholecystolithiasis and gallbladder polyp. The results of univariate Cox regression analysis showed that along with the increase of accumulated of MS components, the risk of cholecystolithiasis and gallbladder polyp significantly increased (1 to 5 components corresponding HR (95% CI) were 1.92 (1.13 to 3.24), 2.21 (1.32 to 3.69), 6.91 (4.22 to 11.30), 8.56 (5.15 to 14.22), and 10.73 (5.66 to 20.33); P=0.015, =0.002, <0.001, <0.001, and <0.001); after age and gender were adjusted, this trend still existed (1 to 5 components corresponding HR (95% CI) were 1.81(1.07 to 3.06), 1.95(1.16 to 3.27), 5.64(3.42 to 9.32), 6.69(3.97 to 11.25), and 7.76(4.04 to 14.91); P=0.028, =0.012, <0.001, <0.001, and <0.001). Conclusion:MS and its components can increase the risk of cholecystolithiasis and gallbladder polyp, and the risk of cholecystolithiasis and gallbladder polyp significantly increases along with the increase of accumulated of MS components.

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.

Infectious disease science is a core discipline of medicine and public health, and education in this field is essential for safeguarding public health and global health security. This study examined the development and future trends of infectious disease education in China by analyzing the evolution of the content and structure of nine editions of the textbook InfectiousDiseases published by the People's Medical Publishing House. The study revealed continuous improvements in pathogen classification methods, the selection of classic infectious diseases, and the articulation of prevention strategies, reflecting scientific advancements of the discipline and shifting societal needs. The expansion and diversification of the editorial team highlight the interdisciplinary nature and international perspective of infectious disease science. The continuous updates of the textbook not only provide theoretical guidance for infectious disease prevention and control but also contribute significantly to the training of skilled health professionals and the enhancement of public health emergency response capabilities. Based on the current status, this study suggests to accelerate the dynamic updating of textbooks, strengthen clinical practice education, and promote international collaboration to better meet the demands of future infectious disease education.

Infectious disease science is a core discipline of medicine and public health, and education in this field is essential for safeguarding public health and global health security. This study examined the development and future trends of infectious disease education in China by analyzing the evolution of the content and structure of nine editions of the textbook InfectiousDiseases published by the People's Medical Publishing House. The study revealed continuous improvements in pathogen classification methods, the selection of classic infectious diseases, and the articulation of prevention strategies, reflecting scientific advancements of the discipline and shifting societal needs. The expansion and diversification of the editorial team highlight the interdisciplinary nature and international perspective of infectious disease science. The continuous updates of the textbook not only provide theoretical guidance for infectious disease prevention and control but also contribute significantly to the training of skilled health professionals and the enhancement of public health emergency response capabilities. Based on the current status, this study suggests to accelerate the dynamic updating of textbooks, strengthen clinical practice education, and promote international collaboration to better meet the demands of future infectious disease education.

Objective:To investigate the correlation between metabolic syndrome (MS), its different components and the risk of cholecystolithiasis and gallbladder polyp in Uygur population in rural areas of southern Xinjiang.Methods:This study was a prospective cohort study. A baseline survey was conducted in August 2016. A typical sampling method was used to select 10 476 Uygur people in rural areas of southern Xinjiang as the research objects. Baseline clinical data were collected, including demographic data such as age, gender, and education level, and laboratory examination indicators such as blood glucose and triglyceride levels. According to the MS diagnostic criteria of the relevant guidelines, 10 476 subjects were divided into the MS group (3 475 cases) and the non-MS group (7 001 cases). The incidence of cholecystolithiasis and gallbladder polyp was followed up in 2019, 2021 and 2023, respectively. Cox regression was used to analyze the correlation between MS, its different components and the risk of cholecystolithiasis and gallbladder polyp. Chi-square test and independent sample t test were used for statistical analysis. Results:The median follow-up time was 6.43 years in 10 476 subjects, and the overall cumulative incidence of cholecystolithiasis and gallbladder polyp was 5.43% (569/10 476). The cumulative incidence of cholecystolithiasis and gallbladder polyp in the MS group was 10.73% (373/ 3 475), which was significantly higher than that in the non-MS group (2.80% (196/7 001)); χ2= 284.62, P<0.001). The results of multivariate Cox regression analysis showed that, 41 to 59 years old ( HR=1.26, 95% confidence interval (95% CI): 1.03 to 1.54, P=0.025), ≥60 years old ( HR=1.88, 95% CI: 1.45 to 2.45, P<0.001), female ( HR=1.34, 95% CI: 1.13 to 1.60, P=0.001), MS ( HR=2.19, 95% CI: 1.59 to 3.01, P<0.001), hypertriglyceridemia ( HR=1.47, 95% CI: 1.18 to 1.83, P=0.001), hypertension ( HR=1.30, 95% CI: 1.04 to 1.62, P=0.023), and hyperglycemia ( HR=1.24, 95% CI: 1.01 to 1.52, P=0.041) were independent risk factors for cholecystolithiasis and gallbladder polyp. After the adjustment of age and gender, MS ( HR=3.39, 95% CI: 2.82 to 4.07, P<0.001), hypertriglyceridemia ( HR=2.37, 95% CI: 2.00 to 2.81, P<0.001), hypertension ( HR=2.00, 95% CI: 1.66 to 2.41, P<0.001), and hyperglycemia ( HR=1.86, 95% CI: 1.55 to 2.23, P<0.001) were still correlated with cholecystolithiasis and gallbladder polyp, and there was the srtongest correlation between MS and cholecystolithiasis and gallbladder polyp. The results of univariate Cox regression analysis showed that along with the increase of accumulated of MS components, the risk of cholecystolithiasis and gallbladder polyp significantly increased (1 to 5 components corresponding HR (95% CI) were 1.92 (1.13 to 3.24), 2.21 (1.32 to 3.69), 6.91 (4.22 to 11.30), 8.56 (5.15 to 14.22), and 10.73 (5.66 to 20.33); P=0.015, =0.002, <0.001, <0.001, and <0.001); after age and gender were adjusted, this trend still existed (1 to 5 components corresponding HR (95% CI) were 1.81(1.07 to 3.06), 1.95(1.16 to 3.27), 5.64(3.42 to 9.32), 6.69(3.97 to 11.25), and 7.76(4.04 to 14.91); P=0.028, =0.012, <0.001, <0.001, and <0.001). Conclusion:MS and its components can increase the risk of cholecystolithiasis and gallbladder polyp, and the risk of cholecystolithiasis and gallbladder polyp significantly increases along with the increase of accumulated of MS components.

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.

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.