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 evaluate the efficacy and safety of botulinum toxin A (BTX-A) injection into the external urethral sphincter in combination with sacral neuromodulation (SNM) for the treatment of idiopathic non-obstructive urinary retention (INOUR). Methods A total of 57 INOUR patients treated in our hospital during May 2022 and May 2024 were enrolled. Patients were divided into the BTX (n=30) and combined groups (n=27) according to whether they chose SNM after BTX-A injection. The baseline, postoperative 1-month and 6-month consecutive 3-day voiding diaries, quality of life score (QoL), and post-void residual (PVR), preoperative and postoperative 1-month urodynamic results, and postoperative complications were recorded and compared between the two groups. Results One month after surgery, the average number of voiding frequency per day and PVR were lower in both groups than those before surgery (P<0.05), while the average daily urine volume and maximum flow rate (MFR) were higher (P<0.05). There was no statistically significant difference between the maximum detrusor pressure during micturition in both groups before and after surgery (P>0.05). One month after surgery, the average number of voiding frequency per day, average daily urine volume, PVR, QoL, MFR, bladder compliance (BC), and maximum cystometric capacity (MCC) were better in the combined group than in the BTX group (P<0.05), and the efficiency was higher in the combined group (88.9% vs.63.3%, P<0.05). Six months after surgery, the efficacy of the BTX group returned to the baseline level with no statistically significant difference, whereas the efficacy of the combined group was stable (not different from the postoperative 1-month indicators, but better than the baseline level). During the follow-up, there was no difference in the incidence of complications between the BTX group and combined group [43.3% (13/30) vs. 48.1% (13/27), P>0.05]. Conclusion BTX-A injection into the external urethral sphincter combined with SNM improves the short-term outcomes of INOUR patients and maintains the efficacy 6 months postoperatively, which is a safe and reliable treatment option.

ObjectiveTo construct a quantitative prediction model of three indicators（moisture absorption rate， film thickness and coating weight gain） during the coating process of Vitamin C Yinqiao tablets（VCYT） by near-infrared spectroscopy（NIRS）， and to realize the endpoint judgment. MethodReal-time NIRS data of 4 batches of VCYT during the coating process were collected by diffuse reflection method. The coating method employed was the rolling coating method， and the samples were obtained at the spray stage from the coater's sampling port every 10 minutes， and 57 batches of samples（about 1 800 tablets） were collected at various coating times， the tablets were embedded in molten paraffin， cut longitudinally， and observed by stereomicroscope. The film thickness， with a target value of 38 μm， was then measured using Motic Images Advanced 3.2 software. Furthermore， the mositure absorption rate of samples， aiming for a target value of 3%， was determined in accordance with guiding principles for drug hygroscopicity testing in the 2020 edition of Chinese Pharmacopoeia， and 3 samples were randomly selected from each batch（10 tablets per batch）， and the coating weight gain was calculated（target value of 4%）. Partial least squares regression（PLSR） was used to construct a quantitative model of the 3 coating indicators， and the predicted values of the coating indicators were smoothed using the moving average method and used to determine the coating endpoints. ResultThe prediction determination coefficients（R_p²） for moisture absorption rate， film thickness and coating weight gain were 0.933 4， 0.932 6 and 0.965 9， the root mean square errors of prediction（RMSEP） were 0.163 5%， 1.870 9 μm and 0.240 3%， the relative percent deviations（RPD） were 3.711 0， 2.760 7 and 5.415 8， respectively. The results of the external validation set demonstrated that the real-time predicted values obtained by the models exhibited the same trend as the measured values， and the coating endpoint could be accurately predicted（with a prediction error of less than 7.32 min and a relative error of less than 5.63%）. ConclusionThe established NIRS model exhibits excellent predictive performance and can be used for quality control of VCYT during the coating process.

Objective To analyze the changes of vitamin D in children with Henoch-Schonlein purpura(HSP).Methods 130 children with HSP from Kunming Children's Hospital between July 2022-July 2023 were selected as the study subjects and 100 healthy children were selected during the same period as the control group.The blood samples were collected from the children with HSP and the healthy children.The content of vitamin D was measured by Kunming Kingmed Institute for Clinical Laboratory.Results The content of 25(OH)D in children with HSP was lower than that in healthy children,and the difference was statistically significant(P<0.01).The proportion of vitamin D insufficiency in children with HSP was higher than that in healthy children,and the difference was statistically significant(P<0.01).Conclusion The children with HSP are prone to vitamin D insufficiency.Vitamin D supplementation may provide a new method for the treatment of HSP.

Objective:To analyze the prognostic factors and the influence of surgical margin to prognosis.Methods:A retrospective analysis was performed for 208 pelvic tumors who received surgical treatment from January 2000 to December 2017 in our instituition. Survival analysis was performed using the Kaplan-Meier method and Log rank test, and impact factor analysis was performed using Cox regression models.Results:There were 183 initial patients and 25 recurrent cases. According to Enneking staging, 110 cases were stage ⅠB and 98 cases were stage ⅡB. 19 lesions were in zone Ⅰ, 1 in zone Ⅱ, 15 in zone Ⅲ, 29 in zone Ⅰ+Ⅱ, 71 in zone Ⅱ+Ⅲ, 29 in zone Ⅰ+Ⅳ, 35 in zone Ⅰ+Ⅱ+Ⅲ, 3 in zone Ⅰ+Ⅱ+Ⅳ, and 6 in zone Ⅰ+Ⅱ+Ⅲ+Ⅳ. Surgical margins including Intralesional excision in 7 cases, contaminated margin in 21 cases, marginal resection in 67 cases, and wide resection in 113 cases. Local recurrence occurred in 37 cases (17.8%), 25 cases were performed by reoperation and 12 cases received amputation finally. The 5-year recurrence rate of marginal resection was higher than wide resection ( P＜0.05), and the recurrence-free survival rate of marginal resection was lower than wide resection ( P＜0.05). There was significant differences in recurrence rate and recurrence-free survival rate between R0 and R1 resection ( P＜0.05). 92 cases were not reconstructed and 116 cases were reconstructed after pelvic surgery. At the last follow-up, 63 patients (30.3%) died, and the 5-year, 10-year and 15-year survival rates were 70.4%, 66.8% and 61.3%, respectively. The 5-year survival rate of stage ⅠB and ⅡB tumor was 90.4% and 46.8%, respectively. There were 29 cases had postoperative wound complications (13.8%), 1 case with pelvic organ injury. The final function was evaluated in 132 patients, with an average MSTS score of 25.1±3.6. Cox multivariate analysis showed that surgical staging, R0/R1 margin and metastasis were independent prognostic factors for pelvic tumors. Conclusions:The safe surgical margin is the key factor for recurrence-free of pelvic tumor. The survival rate of stage ⅡB pelvic tumors was significantly lower than that of stage ⅠB tumors. Wound infection is the main postoperative complication. Surgical staging, R0/R1 margin and metastasis were independent prognostic factors of pelvic tumors.

Objective:To analyze the prognostic factors and the influence of surgical margin to prognosis.Methods:A retrospective analysis was performed for 208 pelvic tumors who received surgical treatment from January 2000 to December 2017 in our instituition. Survival analysis was performed using the Kaplan-Meier method and Log rank test, and impact factor analysis was performed using Cox regression models.Results:There were 183 initial patients and 25 recurrent cases. According to Enneking staging, 110 cases were stage ⅠB and 98 cases were stage ⅡB. 19 lesions were in zone Ⅰ, 1 in zone Ⅱ, 15 in zone Ⅲ, 29 in zone Ⅰ+Ⅱ, 71 in zone Ⅱ+Ⅲ, 29 in zone Ⅰ+Ⅳ, 35 in zone Ⅰ+Ⅱ+Ⅲ, 3 in zone Ⅰ+Ⅱ+Ⅳ, and 6 in zone Ⅰ+Ⅱ+Ⅲ+Ⅳ. Surgical margins including Intralesional excision in 7 cases, contaminated margin in 21 cases, marginal resection in 67 cases, and wide resection in 113 cases. Local recurrence occurred in 37 cases (17.8%), 25 cases were performed by reoperation and 12 cases received amputation finally. The 5-year recurrence rate of marginal resection was higher than wide resection ( P＜0.05), and the recurrence-free survival rate of marginal resection was lower than wide resection ( P＜0.05). There was significant differences in recurrence rate and recurrence-free survival rate between R0 and R1 resection ( P＜0.05). 92 cases were not reconstructed and 116 cases were reconstructed after pelvic surgery. At the last follow-up, 63 patients (30.3%) died, and the 5-year, 10-year and 15-year survival rates were 70.4%, 66.8% and 61.3%, respectively. The 5-year survival rate of stage ⅠB and ⅡB tumor was 90.4% and 46.8%, respectively. There were 29 cases had postoperative wound complications (13.8%), 1 case with pelvic organ injury. The final function was evaluated in 132 patients, with an average MSTS score of 25.1±3.6. Cox multivariate analysis showed that surgical staging, R0/R1 margin and metastasis were independent prognostic factors for pelvic tumors. Conclusions:The safe surgical margin is the key factor for recurrence-free of pelvic tumor. The survival rate of stage ⅡB pelvic tumors was significantly lower than that of stage ⅠB tumors. Wound infection is the main postoperative complication. Surgical staging, R0/R1 margin and metastasis were independent prognostic factors of pelvic tumors.

Following the principles of evidence-based medicine,in accordance with the structure and drafting rules of standardized documents,based on literature research,according to the characteristics of chronic cough in children and issues that need to form a consensus,the TCM Guidelines for Diagnosis and Treatment of Chronic Cough in Children was formulated based on the Delphi method,expert discussion meetings,and public solicitation of opinions.The guideline includes scope of application,terms and definitions,eti-ology and diagnosis,auxiliary examination,treatment,prevention and care.The aim is to clarify the optimal treatment plan of Chinese medicine in the diagnosis and treatment of this disease,and to provide guidance for improving the clinical diagnosis and treatment of chronic cough in children with Chinese medicine.

During coronavirus disease 2019 epidemic, the treatment of severe trauma has been impacted. The Consensus on emergency surgery and infection prevention and control for severe trauma patients with 2019 novel corona virus pneumonia was published online on February 12, 2020, providing a strong guidance for the emergency treatment of severe trauma and the self-protection of medical staffs in the early stage of the epidemic. With the Joint Prevention and Control Mechanism of the State Council renaming "novel coronavirus pneumonia" to "novel coronavirus infection" and the infection being managed with measures against class B infectious diseases since January 8, 2023, the consensus published in 2020 is no longer applicable to the emergency treatment of severe trauma in the new stage of epidemic prevention and control. In this context, led by the Chinese Traumatology Association, Chinese Trauma Surgeon Association, Trauma Medicine Branch of Chinese International Exchange and Promotive Association for Medical and Health Care, and Editorial Board of Chinese Journal of Traumatology, the Chinese expert consensus on emergency surgery for severe trauma and infection prevention during coronavirus disease 2019 epidemic ( version 2023) is formulated to ensure the effectiveness and safety in the treatment of severe trauma in the new stage. Based on the policy of the Joint Prevention and Control Mechanism of the State Council and by using evidence-based medical evidence as well as Delphi expert consultation and voting, 16 recommendations are put forward from the four aspects of the related definitions, infection prevention, preoperative assessment and preparation, emergency operation and postoperative management, hoping to provide a reference for severe trauma care in the new stage of the epidemic prevention and control.

Objective:To explore the mid-term efficacy of liquid nitrogen-inactivated autologous tumor segment bone replantation for repairing bone defects after resection of malignant tumors in the long bone shaft.Methods:A retrospective analysis was performed on the clinical data of 16 patients treated with liquid nitrogen-inactivated autologous bone graft at Beijing Jishuitan Hospital from July 2015 to June 2017 to repair defects caused by malignant tumour resection of the diaphysis. There were 10 males and 6 females with a mean age of 23.4±11.6 years (range, 8-44 years), including 8 classic osteosarcoma, 2 high-grade surface osteosarcoma, 4 Ewing's sarcoma, 1 periosteal osteosarcoma, and 1 undifferentiated pleomorphic sarcoma. Tumors were located in the humerus in 2 cases, in the femur in 8 cases and in the tibia in 6 cases. The mean length of tumor was 12.4±4.8 cm (range, 5.5-26 cm). Postoperative imaging examination was performed every 6 months, and the healing status of the transplanted bone-host bone was evaluated based on the imaging assessment method of the International Society of Limb Salvage (ISOLS) imaging assessment after allogeneic bone transplantation, and the complications were assessed using the Henderson classification. The five-year survival rate for patients and grafted bone was calculated using the Kaplan-Meier survival curve.Results:The median follow-up was 64 (60.3, 69.8) months. At the end of follow-up, 13 patients were tumour free and 3 patients died of multiple metastases at 19, 20 and 33 months after surgery. There were 32 osteotomy ends in 16 patients, of which 30 healed, including 11 metaphyseal osteotomy ends, and the healing time was 9 (6, 12) months after replantation of the tumour segment with liquid nitrogen-inactivated autologous bone; 19 osteotomy ends in the diaphysis took 13 (9, 21) months to heal, with a statistically significant difference in healing time between different sites ( Z=-2.25, P=0.025). Sixteen patients had six complications, including two cases of non-union at the diaphyseal site, one case of failure of internal fixation due to non-union, three cases of recurrence, and no soft tissue complications or infections. One patient with failed internal fixation was treated with a vascularized tip iliac bone graft that healed 6 months after surgery. Another patient died of multiple metastases with 1 unhealed diaphysis left. Three cases of recurrence were all located in the extracranial soft tissue of the autologous tumor segment inactivated by liquid nitrogen. Among them, one case underwent reoperation and local radiotherapy, and there was still no tumor survival after 65 months of surgery, and two cases died due to multiple metastases. The five-year survival rate of patients was 81% as calculated using the Kaplan-Meier survival curve, and the graft survival rate was 100%. There was no amputation and the limb salvage rate was 100%. Conclusion:The use of liquid nitrogen-inactivated autologous tumor segment bone replantation for reconstruction of bone defects after resection of malignant tumors in the shaft has advantages of higher healing rate, shorter healing time at the metaphyseal end compared to the osteotomy end, fewer complications, and higher survival rate of the replanted bone.