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*

In January 2025， the European Society for Medical Oncology （ESMO） released the ESMO clinical practice guideline interim update on the management of biliary tract cancer as a supplementary update to Biliary tract cancer： ESMO clinical practice guideline for diagnosis， treatment and follow-up published in November 2022. This interim update mainly revises the latest evidence-based medical recommendations in the key fields of molecular diagnostics and clinical management since the release of the original guidelines， and it is not a comprehensive update of the entire document. This article summarizes and makes an excerpt of the new recommendations from this interim update.

Objective:To explore and compare the clinical application value of 8-channel head phased-array coil, an 8-channel temporomandibular joint (TMJ)-specific surface coil, and a single-channel surface coil in TMJ MRI examinations.Methods:A total of 600 temporomandibular disorders (TMD) patients (1 200 joints) who underwent TMJ MRI examination in the First People′s Hospital of Jinzhong from June 2020 to January 2025 were retrospectively screened. Based on inclusion/exclusion criteria, 120 TMD patients (240 joints) with closed-mouth oblique sagittal proton density weighted imaging (OSag PDWI), coronal T2 fat-suppression weighted imaging (OCor fs T2WI) and open-mouth oblique sagittal proton density weighted imaging (OSag PDWI) were included. Patients were divided into groups A, B, and C, with 40 cases in each group. Group A (31female, 9male, median age 24 years old), underwent 8-channel head phased-array coil imaging. Group B (29 female, 11male, median age 23.5 years old) underwent TMJ imaging with an 8-channel surface coil. Group C (29 female, 11male, median age 22.5 years old) underwent single-channel surface coil imaging. There were no significant differences in age, gender, type or disease types among groups ( P>0.05). Six healthy volunteers without TMD (4 female, 2 male, range 19 to 45 years old) underwent imaging with all three coils as self-control. The signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR) and image quality were compared for five regions of interest (ROI) in both patients and volunteers. Results:Under the same sequence and the same parameters, SNR and CNR in group B were higher than those in group A, and SNR and CNR in group C were also higher than those in group A, the differences were statistically significant ( P<0.05). However, there were significant differences in SNR and CNR between group B and group C in the closed and open positions of ROI1, the open positions of ROI3 and the open positions of ROI5 ( P<0.05), and there were no significant differences in other positions ( P>0.05). Group B had the best image quality, followed by group C and group A had the worst image quality. There were significant differences in the visualization of OSag PDWI in the closed mouth position, OCor T2WI in the coronal position, and OSag PDWI in the open mouth position, such as condyle, anterior attachment, joint disc, double lamina area, joint cavity and lateral pterygoid muscle ( P<0.05). There were significant differences between group B and group C in showing the joint cavity in the closed mouth position and showing the structure of the bilaminar area in the open mouth position ( P<0.05). There was no significant difference in other regions of interest ( P>0.05). The subjective scores of condyle, anterior attachment, articular disc, bilaminar area, articular cavity, lateral pterygos muscle and other structures were medium to high in group A, high in group B, and high or high in group C by two radiologists independently. In the five rois, the 8-channel TMJ surface coil showed more details, especially in the articular disc, condyle and lateral pterygoid muscle regions, and had more advantages in both volunteers and patients. Conclusions:The 8-channel TMJ-specific surface coil provides significantly clearer visualization of critical anatomical details within the ROIs, demonstrating the highest clinical application value and is recommended as the preferred choice.

Biosynthesized selenium nanoparticles (SeNPs) have attracted much attention because of their unique physical, chemical, and biological properties. The microbial reduction of selenium salts to SeNPs has great potential, while there is a lack of elite strains. In this study, we explored the reduction of Na₂SeO₃ by Streptomyces avermitilis into SeNPs. The colonies and hyphae of the strain and the synthesized SeNPs were characterized by optical microscopy, scanning electron microscopy (SEM), transmission electron microscope (TEM), energy dispersive spectrometry (EDS), X-ray diffraction (XRD), and Fourier transform infrared spectroscopy (FTIR). At the same time, the inhibitory activity of SeNPs on Fusarium oxysporum, the main pathogen causing root rot of Lycium barbarum, was studied. The results showed that S. avermitilis converted Na₂SeO₃ into SeNPs and tolerated 300 mmol/L Na₂SeO₃, demonstrating strong tolerance. S. avermitilis synthesized spherical SeNPs in the cytoplasm, and most of SeNPs had a diameter of about 100 nm and were released by hyphal fracture. The SeNPs synthesized by S. avermitilis were amorphous, and their surfaces were dominated by C and Se, with the existence of O, N and other elements. SeNPs had functional groups such as -OH, C=O, C-N, and C-H, which were closely related to the stability and biological activity of SeNPs. The SeNPs synthesized by S. avermitilis showcased significant inhibitory activity on F. oxysporum, and 25.0 μmol/mL SeNPs showcased the inhibition rate of 77.61% and EC₅₀ of 0.556 μmol/mL. In conclusion, S. avermitilis can tolerate high Na₂SeO₃ stress and mediate the synthesis of SeNPs. The synthesized SeNPs have good stability and strong inhibitory activity, demonstrating the potential application value in the preparation of SeNPs and the control of L. barbarum root rot.
Streptomyces/metabolism* ; Fusarium/drug effects* ; Lycium/microbiology* ; Selenium/metabolism* ; Nanoparticles/chemistry* ; Plant Diseases/microbiology* ; Metal Nanoparticles/chemistry* ; Antifungal Agents/pharmacology*

Objective:To explore and compare the clinical application value of 8-channel head phased-array coil, an 8-channel temporomandibular joint (TMJ)-specific surface coil, and a single-channel surface coil in TMJ MRI examinations.Methods:A total of 600 temporomandibular disorders (TMD) patients (1 200 joints) who underwent TMJ MRI examination in the First People′s Hospital of Jinzhong from June 2020 to January 2025 were retrospectively screened. Based on inclusion/exclusion criteria, 120 TMD patients (240 joints) with closed-mouth oblique sagittal proton density weighted imaging (OSag PDWI), coronal T2 fat-suppression weighted imaging (OCor fs T2WI) and open-mouth oblique sagittal proton density weighted imaging (OSag PDWI) were included. Patients were divided into groups A, B, and C, with 40 cases in each group. Group A (31female, 9male, median age 24 years old), underwent 8-channel head phased-array coil imaging. Group B (29 female, 11male, median age 23.5 years old) underwent TMJ imaging with an 8-channel surface coil. Group C (29 female, 11male, median age 22.5 years old) underwent single-channel surface coil imaging. There were no significant differences in age, gender, type or disease types among groups ( P>0.05). Six healthy volunteers without TMD (4 female, 2 male, range 19 to 45 years old) underwent imaging with all three coils as self-control. The signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR) and image quality were compared for five regions of interest (ROI) in both patients and volunteers. Results:Under the same sequence and the same parameters, SNR and CNR in group B were higher than those in group A, and SNR and CNR in group C were also higher than those in group A, the differences were statistically significant ( P<0.05). However, there were significant differences in SNR and CNR between group B and group C in the closed and open positions of ROI1, the open positions of ROI3 and the open positions of ROI5 ( P<0.05), and there were no significant differences in other positions ( P>0.05). Group B had the best image quality, followed by group C and group A had the worst image quality. There were significant differences in the visualization of OSag PDWI in the closed mouth position, OCor T2WI in the coronal position, and OSag PDWI in the open mouth position, such as condyle, anterior attachment, joint disc, double lamina area, joint cavity and lateral pterygoid muscle ( P<0.05). There were significant differences between group B and group C in showing the joint cavity in the closed mouth position and showing the structure of the bilaminar area in the open mouth position ( P<0.05). There was no significant difference in other regions of interest ( P>0.05). The subjective scores of condyle, anterior attachment, articular disc, bilaminar area, articular cavity, lateral pterygos muscle and other structures were medium to high in group A, high in group B, and high or high in group C by two radiologists independently. In the five rois, the 8-channel TMJ surface coil showed more details, especially in the articular disc, condyle and lateral pterygoid muscle regions, and had more advantages in both volunteers and patients. Conclusions:The 8-channel TMJ-specific surface coil provides significantly clearer visualization of critical anatomical details within the ROIs, demonstrating the highest clinical application value and is recommended as the preferred choice.

Traumatic supraorbital fissure syndrome (TSOFS) is a symptom complex caused by nerve entrapment in the supraorbital fissure after skull base trauma. If the compressed cranial nerve in the supraorbital fissure is not decompressed surgically, ptosis, diplopia and eye movement disorder may exist for a long time and seriously affect the patients′ quality of life. Since its overall incidence is not high, it is not familiarized with the majority of neurosurgeons and some TSOFS may be complicated with skull base vascular injury. If the supraorbital fissure surgery is performed without treatment of vascular injury, it may cause massive hemorrhage, and disability and even life-threatening in severe cases. At present, there is no consensus or guideline on the diagnosis and treatment of TSOFS that can be referred to both domestically and internationally. To improve the understanding of TSOFS among clinical physicians and establish standardized diagnosis and treatment plans, the Skull Base Trauma Group of the Neurorepair Professional Committee of the Chinese Medical Doctor Association, Neurotrauma Group of the Neurosurgery Branch of the Chinese Medical Association, Neurotrauma Group of the Traumatology Branch of the Chinese Medical Association, and Editorial Committee of Chinese Journal of Trauma organized relevant experts to formulate Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome ( version 2024) based on evidence of evidence-based medicine and clinical experience of diagnosis and treatment. This consensus puts forward 12 recommendations on the diagnosis, classification, treatment, efficacy evaluation and follow-up of TSOFS, aiming to provide references for neurosurgeons from hospitals of all levels to standardize the diagnosis and treatment of TSOFS.

Objective To explore the solvent effect on the chromatographic retention performance by RP-HPLC in traditional Chinese medicine analysis.Methods Five traditional Chinese medicines were selected to determin by HPLC according to the requirements of each medicinal content determination item in Chinese pharmacopoeia(Vol.Ⅰ,2020),they were gentiopicroside-Radix gentianae,syringin-Acanthopanax enticosus,rosin diglucoside-Eucommia ulmoides,aesculin-Fraxinus Cortex,and adenosine-Cordyceps sinensis respectively.The effect of sample solvent in RP-HPLC was explored preliminarily on the chromatographic peak abnormalities and some solutions were proposed.Results The abnormal chromatographic retention behavior of the five traditional Chinese medicine components were characterized by retention time drift,peak broadening,extending and splitting,the fundamental reason for the above abnormal phenomenons was that there was a certain mismatch between the sample solvent and the mobile phase,leading to different existing forms of the sample between the sample solvent and the mobile phase(Solvent Effect).The results showed that the mobile phase or similar to mobile phase solution was a preferred method to reduce and eliminate solvent effect.In addition,reducing the injection volume or using the solvent effect eliminator can also be used as auxiliary means.Conclusion Solvent effect can cause abnormal peak shape,and had an influence on the accuracy of qualitative and quantitative results,it should be taken seriously in daily Chinese medicine analysis work.

At present， in vitro artificial liver support system has achieved a good therapeutic effect in the diseases such as liver failure due to various causes， non-function state before and after liver transplantation， and severe cholestasis. Non-bioartificial liver （NBAL） is widely used in clinical practice through various combinations of modes， mainly the plasma exchange mode for improving coagulation factors and albumin combined with other modes for enhancing the elimination of toxic substances in the body. Bioartificial liver （BAL）， based on the design concept of the synthesis and transformation of hepatocytes， has achieved rapid development in recent years. Patients with liver failure can almost obtain the normal physiological function of human liver after NBAL detoxification and BAL synthesis and transformation of active substances in the body. NBAL mode combined with BAL with a stable therapeutic effect according to the conditions of the patient is the direction of in vitro support treatment for patients with severe liver disease in the future.

Intrahepatic cholangiocarcinoma （ICC） is a highly malignant biliary tumor， and early-onset ICC （EOICC） refers to ICC with an age of ≤50 years at the time of confirmed diagnosis and often has a higher clinical stage and more significant biological invasiveness. At present， the incidence rate of EOICC is increasing rapidly， but the research on EOICC is still in its early stage. Current evidence has shown that EOICC has significantly different epidemiological， clinical， and molecular characteristics from late-onset ICC. Therefore， the research on the high-risk factors and pathogenesis of EOICC is of great importance for the early identification， diagnosis， and targeted treatment of EOICC. Due to the younger age and better physical condition of EOICC patients， they can tolerate medical interventions with higher risks， and active individualized diagnosis and treatment regimens can be adopted， allowing patients to obtain similar survival and prognosis as those with late-onset ICC. However， due to the significant differences in molecular characteristics between EOICC and ICC， existing targeted drugs may not be suitable for EOICC patients， posing a huge challenge for the systematic treatment of patients with advanced EOICC. The clinical and basic research on EOICC is still lagging behind， and the population characteristics and pathogenic factors of EOICC should be further clarified， in order to promote the establishment of prevention， diagnosis， and treatment standards for the EOICC population.

Chronic liver disease(CLD)tends to have a high incidence rate and impose a serious burden on society and families.Studies have shown that metal ion metabolism is closely associated with CLD,and some Chinese herbal medicines can play a role in the prevention and treatment of CLD by regulating metal ion metabolism.At present,the synthetic drugs currently used for the treatment of CLD fail to achieve a satisfactory effect,and therefore,a variety of Chinese herbal medicines are being used as supplementary and alternative therapies for CLD.This article introduces the role of metal ion metabolism in CLD and the regulatory effect of Chinese herbal medicines and their active components on CLD,and the analysis shows that metal ion metabolism is expected to provide new ideas for the research on CLD and a theoretical basis for the clinical treatment of CLD.For the role of metal ion metabolism in the treatment of CLD,more prospective clinical study data are needed in the future to provide effective and safe treatment regimens for patients with CLD.