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 explore the correlation among disease uncertainty,quality of life and psychological resilience in patients undergoing radical gastrectomy for gastric cancer.Methods:This study was a prospective study.A total of 106 patients who underwent radical gastrectomy for gastric cancer and were admitted to Shanxi Integrated Traditional Chinese and Western Medicine Hospital from July 2023 to July 2024 were included in observation group.Connor-davidson resilience scale(CD-RISC),Mishel disease uncertainty scale(MUIS)and European qrganization for research and treatment of cancer quality of life questionnaire-C30(EORCT QLQ-C30)were used to evaluate the psychological resilience,disease uncertainty and quality of life of observation group.Pearson test was used to analyze the correlations among disease uncertainty,quality of life and psychological resilience in patients undergoing radical gastrectomy for gastric cancer.Univariate and multivariate logistic regression analyses were used to investigate the influencing factors of decreased postoperative psychological resilience in patients undergoing radical gastrectomy for gastric cancer.Result:Pearson test analysis showed that,the MUIS score and EORCT QLQ-C30 score of patients undergoing radical gastrectomy for gastric cancer was negatively correlated with CD-RISC(P＜0.05).Through univariate analysis,age,educational level,annual family income,MUIS and EORCT QLQ-C30 were the influencing factors of decreased psychological resilience in patients undergoing radical gastrectomy for gastric cancer(P＜0.05).Multivariate logistic analysis showed that,increased age,educational level of primary school or below,annual family income＜50,000 yuan,increased MUIS score and increased EORCT QLQ-C30 score were independent risk factors for decreased psychological resilience in patients undergoing radical gastrectomy for gastric cancer.Conclusion:The disease uncertainty,quality of life and psychological resilience of patients undergoing radical gastrectomy for gastric cancer are negatively correlated.Increased age,educational level of primary school or below,annual family income＜50,000 yuan,increased MUIS score and increased EORCT QLQ-C30 score are independent risk factors for decreased psychological resilience in patients undergoing radical gastrectomy for gastric cancer.

To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Blood transfusion is one of the most commonly used supportive treatments for children with hematological diseases. This guideline provides guidance and recommendations for blood transfusions in children with aplastic anemia, thalassemia, autoimmune hemolytic anemia, glucose-6-phosphate dehydrogenase deficiency, acute leukemia, myelodysplastic syndromes, immune thrombocytopenic purpura, and thrombotic thrombocytopenic purpura. This article presents the evidence and interpretation of the blood transfusion provisions for children with hematological diseases in the "Guideline for pediatric transfusion", aiming to assist in the understanding and implementing the blood transfusion section of this guideline.
Humans ; Child ; Hematologic Diseases/therapy* ; Blood Transfusion/standards* ; Practice Guidelines as Topic

To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Blood transfusion for children undergoing hematopoietic stem cell transplantation is highly complex and challenging. This guideline provides recommendations on transfusion thresholds and the selection of blood components for these children. This article presents the evidence and interpretation of the transfusion provisions for children undergoing hematopoietic stem cell transplantation, with the aim of enhancing the understanding and implementation of the "Guideline for pediatric transfusion".
Humans ; Hematopoietic Stem Cell Transplantation ; Child ; Blood Transfusion/standards* ; Practice Guidelines as Topic

To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Critically ill children often present with anemia and have a higher demand for transfusions compared to other pediatric patients. This guideline provides guidance and recommendations for blood transfusions in cases of general critical illness, septic shock, acute brain injury, extracorporeal membrane oxygenation, non-life-threatening bleeding, and hemorrhagic shock. This article interprets the background and evidence of the blood transfusion provisions for critically ill and severely bleeding children in the "Guideline for pediatric transfusion", aiming to enhance understanding and implementation of this aspect of the guidelines. Citation:Chinese Journal of Contemporary Pediatrics, 2025, 27(4): 395-403.
Humans ; Critical Illness ; Blood Transfusion/standards* ; Child ; Hemorrhage/therapy* ; Practice Guidelines as Topic

To guide clinical blood transfusion practices in pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Children undergoing cardiac surgery are at high risk of bleeding, and the causes of perioperative anemia and coagulation disorders in neonates and children are complex and varied, often necessitating the transfusion of allogeneic blood components. This guideline provides direction and recommendations for specific measures in blood management for children undergoing cardiac surgery before, during, and after surgery. This article interprets the background and evidence for the formulation of the blood transfusion provisions for children undergoing cardiac surgery, hoping to facilitate the understanding and implementation of this guideline.
Humans ; Cardiac Surgical Procedures ; Blood Transfusion/standards* ; Child ; Practice Guidelines as Topic

Objective:To explore the correlation among disease uncertainty,quality of life and psychological resilience in patients undergoing radical gastrectomy for gastric cancer.Methods:This study was a prospective study.A total of 106 patients who underwent radical gastrectomy for gastric cancer and were admitted to Shanxi Integrated Traditional Chinese and Western Medicine Hospital from July 2023 to July 2024 were included in observation group.Connor-davidson resilience scale(CD-RISC),Mishel disease uncertainty scale(MUIS)and European qrganization for research and treatment of cancer quality of life questionnaire-C30(EORCT QLQ-C30)were used to evaluate the psychological resilience,disease uncertainty and quality of life of observation group.Pearson test was used to analyze the correlations among disease uncertainty,quality of life and psychological resilience in patients undergoing radical gastrectomy for gastric cancer.Univariate and multivariate logistic regression analyses were used to investigate the influencing factors of decreased postoperative psychological resilience in patients undergoing radical gastrectomy for gastric cancer.Result:Pearson test analysis showed that,the MUIS score and EORCT QLQ-C30 score of patients undergoing radical gastrectomy for gastric cancer was negatively correlated with CD-RISC(P＜0.05).Through univariate analysis,age,educational level,annual family income,MUIS and EORCT QLQ-C30 were the influencing factors of decreased psychological resilience in patients undergoing radical gastrectomy for gastric cancer(P＜0.05).Multivariate logistic analysis showed that,increased age,educational level of primary school or below,annual family income＜50,000 yuan,increased MUIS score and increased EORCT QLQ-C30 score were independent risk factors for decreased psychological resilience in patients undergoing radical gastrectomy for gastric cancer.Conclusion:The disease uncertainty,quality of life and psychological resilience of patients undergoing radical gastrectomy for gastric cancer are negatively correlated.Increased age,educational level of primary school or below,annual family income＜50,000 yuan,increased MUIS score and increased EORCT QLQ-C30 score are independent risk factors for decreased psychological resilience in patients undergoing radical gastrectomy for gastric cancer.

Objective:To develop and validate a model to predict the risk of malnutrition in patients with nasopharyngeal carcinoma receiving concurrent chemoradiotherapy. Methods:From April 2022 to August 2023, 430 patients with nasopharyngeal carcinoma who were admitted to the department of radiotherapy of the first affiliated hospital of Guangxi medical university in Nanning were conveniently selected as the study subjects, and they were divided into the modelling group (300 cases) and the internal validation group (130 cases) in the internal validation group in the ratio of 7:3, and 61 patients with nasopharyngeal carcinoma admitted to the affiliated cancer hospital of Guangxi medical university in Nanning City were selected as the external validation group. Logistic regression was used to establish the risk prediction model and draw nomograms,Hosmer-Lemeshow, calibration curve and ROC were used to verify the goodness of fit and predictive power of the model, and clinical decision curve was used to assess the clinical utility. Results:Logistic regression analysis showed that skeletal muscle mass index, self-rated anxiety scale score, Pittsburgh sleep quality questionnaire score, Chinese diet pagoda score, regular exercise, and digestive symptom groups were the influencing factors for malnutrition in patients with nasopharyngeal carcinoma receiving concurrent chemoradiotherapy. In the modelling group, the area under the ROC curve was 0.853 (95％CI:0.81 ～ 0.89), the maximum Youden was 0.600, and the corresponding specificity was 0.764 and the sensitivity was 0.836. The Hosmer-Lemeshow test=4.040 and P=0.853 indicated that the model had good predictive ability. Calibration curve of the calibration showed that the predictive effect of the model matched actual probability well, with an average absolute error was 0.024. When the threshold probability of the clinical decision curve is 0.05 ～ 0.85, the clinical response rate is higher. The area under the operating curve of the subjects in the internal validation group was 0.891, the sensitivity was 77.36％, the specificity was 89.61％, and the practical application accuracy was 84.62％. The area under the operating curve of the subjects in the external validation group was 0.886, the sensitivity was 76.00％, the specificity was 83.33％, and the overall accuracy was 80.33％. Conclusion:The risk prediction model constructed in this study has a good effect, which can effectively predict the incidence of malnutrition in patients receiving concurrent radiotherapy and chemotherapy for nasopharyngeal carcinoma, and provide a reference for clinical staff to formulate and implement nutritional interventions.

AIM To investigate the consistency of chemical constituents between formula granules and standard decoction of Coptidis Rhizoma.METHODS Eighteen batches of standard decoctions were prepared,after which the extraction rate and contents,transfer rates of magnolflorine,jatrorrhizine,columbamine,epiberberine,coptisine,palmatine,berberin were determined,HPLC characteristic chromatograms were established.RESULTS There were 11 common peaks in the characteristic chromatograms of 18 batches of standard decoctions and 24 batches of formula granules with the similarities of 0.861-1.000,which were clusterd into two categories.The formula granules and standard decoction demonstrated approximated extraction rate and contents,transfer rates of index constituents.CONCLUSION The chemical constituents between formula granules and standard decoction of Coptidis Rhizoma display good consistency,which can provide references for the quality control,process research and clinical application of the former.

Chronic lumbar and back pain caused by degenerative vertebral endplates presents a challenging issue for pa-tients and clinicians.As a new minimally invasive spinal treatment method,radiofrequency ablation of vertebral basal nerve in bone can denature the corresponding vertebral basal nerve through radiofrequency ablation of degenerative vertebral endplate.It blocks the nociceptive signal transmission of the vertebral base nerve,thereby alleviating the symptoms of low back pain caused by the degenerative vertebral endplate.At present,many foreign articles have reported the operation principle,opera-tion method,clinical efficacy and related complications of radiofrequency ablation of the vertebral basal nerve.The main pur-pose of this paper is to conduct a comprehensive analysis of the current relevant research,and provide a reference for the follow-up clinical research.