Objective:To establish a liquid chromatography tandem mass spectrometry (LC-MS/MS) method for accurate determination of plasma Lyso-GL-3 concentration.Method:Solid phase extraction technology was used to process plasma samples, and under positive ion mode and multiple reaction monitoring (MRM) conditions, LC-MS/MS was used to determine the concentration of Lyso-GL-3. The linear range, detection and quantification limits, accuracy, precision, matrix effect, carrier effect of the method, and plasma sample stability were validated. And the accuracy of Lyso-GL-3 positive patients was compared by combining enzymatic and genetic testing results.Result:Lyso-GL-3 had good linearity in the range of 1.25-400 nmol/L. The detection limit and quantification limit were 0.15 nmol/L and 0.50 nmol/L, respectively. The spiked recovery rate was 88.78%-108.96%. The coefficient of variation ( CV) for intra batch precision, inter batch precision, and matrix effect were all less than 15%, the result of carrier effect was 0.55%. Plasma samples could be stably stored for 30 days under refrigeration conditions. The clinical conformity of the patient was 100%. Conclusion:The established LC-MS/MS detection method for plasma Lyso-GL-3 concentration takes 2.5 minutes, which is simple, fast, accurate, and reliable.

Autoimmune myositis （AIM） is a group of autoimmune diseases that primarily affect muscle fibers， often accompanied by the involvement of multiple organs such as the skin，lungs，and joints.It is the most common treatable skeletal muscle disease in adults. Although most patients with AIM can achieve remission with traditional immunosuppressive therapies， their quality of life can be heavily reduced due to drug-related adverse effects and the high relapse rate and high disability rate of the disease. With the deepening understanding of the immunopathological mechanisms of AIM，various biologics targeting different components of these mechanisms have brought new hope for patients with AIM. This article reviews the advances in the treatment of AIM.

Sporadic late-onset nemaline myopathy （SLONM） is a rare， acquired， and treatable myopathy with a subacute or chronic progressive clinical course， characterized by asymmetric muscle atrophy and weakness in the axial and limb muscles， with or without involvement of respiratory and cardiac muscles. The only definitive diagnostic method at present is the identification of rods accumulation in muscle fibers by muscle biopsy pathology. This article provides a review of the clinical manifestations， diagnostic evaluations， muscle pathology， and advances in the treatment of SLONM.
Immunotherapy

Lipid storage myopathy （LSM） is a lipid metabolic disorder characterized by excessive lipid droplet accumulation in muscle fibers. Classic multiple Acyl-CoA dehydrogenase deficiency （MADD）， also known as glutaric aciduria type Ⅱ， is a disease with various clinical manifestations caused by mutations in electron transfer flavoprotein （ETF） and ETF-ubiquinone oxidoreductase. In recent years， a large amount of evidence has shown that classic late-onset MADD caused by mutations in the electron transfer flavoprotein dehydrogenase gene is the main cause of LSM. Besides classic MADD， many other diseases with similar changes in blood acylcarnitines and urinary organic acids can also cause LSM， and such diseases are call MADD-like disorders or MADD spectrum. This article reviews the clinical， pathological， biochemical， and molecular features of LSM with various etiologies and the latest advances in treatment， with a focus on the latest findings associated with MADD spectrum.
Riboflavin

Objective: To evaluate the efficacy and prognosis of loop cutaneous ureterostomy (LCU) in the treatment of primary obstructive megaureter (POM) with severe hydroureteronephrosis (HUN) in infants under 1 year of age，so as to provide reference for infants unsuitable for stage-Ⅰ ureteral reimplantation. Methods: A retrospective analysis was conducted on 12 infants with POM and severe HUN treated with LCU in our hospital during Jan.2019 and Dec.2023.The clinical characteristics，surgical techniques，indications，postoperative complications，stage-Ⅱ surgical approaches，and follow-up outcomes were summarized. Results: All operations were successful，with an average operation time of (37.08±7.53) min (6 left-sided LCU and 6 right-sided LCU).During the mean follow-up of (10.12±2.70) months，all infants showed clinical improvement，with complete resolution or significant alleviation of hydronephrosis，reduced ureteral diameter，and increased renal cortical thickness.Complications included asymptomatic bacteriuria in 3 cases (25%) and urinary tract infection (UTI) in 1 case，all resolved with oral antibiotics.Four cases developed peristomal rashes，which improved with topical treatment.Eleven infants underwent stage-Ⅱ Cohen ureterovesical reimplantation at a mean age of (15.20±2.07) months.Notably，27.3%(3/11) required ureteral tailoring or plication during reimplantation，which reduced the risk of ischemic necrosis from excessive trimming.During the follow-up of (22.17±13.93) months，hydronephrosis and renal function improved，and no febrile UTI or bladder dysfunction occurred. Conclusion: LCU is a safe and effective method，which can provide adequate urinary drainage，relieve obstruction，stabilize renal function，and allow time for ureteral maturation and renal parenchymal recovery.LCU also facilitates subsequent stage-Ⅱ surgery by reducing ureteral dilation.

BACKGROUND: Gluconeogenesis is a critical metabolic pathway for maintaining glucose homeostasis, and its dysregulation can lead to glycometabolic disorders. This study aimed to identify hub biomarkers of these disorders to provide a theoretical foundation for enhancing diagnosis and treatment. METHODS: Gene expression profiles from liver tissues of three well-characterized gluconeogenesis mouse models were analyzed to identify commonly differentially expressed genes (DEGs). Weighted gene co-expression network analysis (WGCNA), machine learning techniques, and diagnostic tests on transcriptome data from publicly available datasets of type 2 diabetes mellitus (T2DM) patients were employed to assess the clinical relevance of these DEGs. Subsequently, we identified hub biomarkers associated with gluconeogenesis-related glycometabolic disorders, investigated potential correlations with immune cell types, and validated expression using quantitative polymerase chain reaction in the mouse models. RESULTS: Only a few common DEGs were observed in gluconeogenesis-related glycometabolic disorders across different contributing factors. However, these DEGs were consistently associated with cytokine regulation and oxidative stress (OS). Enrichment analysis highlighted significant alterations in terms related to cytokines and OS. Importantly, osteomodulin ( OMD ), apolipoprotein A4 ( APOA4 ), and insulin like growth factor binding protein 6 ( IGFBP6 ) were identified with potential clinical significance in T2DM patients. These genes demonstrated robust diagnostic performance in T2DM cohorts and were positively correlated with resting dendritic cells. CONCLUSIONS Gluconeogenesis-related glycometabolic disorders exhibit considerable heterogeneity, yet changes in cytokine regulation and OS are universally present. OMD , APOA4 , and IGFBP6  may serve as hub biomarkers for gluconeogenesis-related glycometabolic disorders.
Machine Learning ; Humans ; Computational Biology/methods* ; Biomarkers/metabolism* ; Diabetes Mellitus, Type 2/genetics* ; Animals ; Mice ; Gluconeogenesis/physiology* ; Gene Expression Profiling ; Transcriptome/genetics* ; Gene Regulatory Networks/genetics* ; Clinical Relevance

Cervical spinal cord injury without fracture-dislocation (CSCIWFD) is referred to as a special type of cervical spinal cord injury characterized by traumatic spinal cord dysfunction and no significant bony structural abnormalities on imagines. Duo to the high risk of missed diagnosis during the initial consultation, CSCIWFD may lead to progressive neurological deterioration or even complete paralysis, severely impacting patients′ prognosis. Currently, there are no established consensuses over the diagnosis and treatment of CSCIWFD, such as the lack of evidence-based standards for indications of non-surgical treatment and risk of secondary neurological injury, as well as debates over the optimal timing for surgical intervention and indications for different surgical approaches. To address these issues, the Spine Trauma Group of the Orthopedic Branch of the Chinese Medical Doctor Association organized experts in the relevant fields to formulate Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture- dislocation in adults ( version 2025) . Based on evidence-based medicine and the principles of scientific rigor and clinical applicability, the guidelines proposed 11 recommendations covering terminology, diagnosis, evaluation treatment, and rehabilitation, etc., aiming to standardize the management of CSCIWFD.

Postoperative infection of internal fixation of closed fractures the lower limbs in adults represents a devastating complication, characterized by diagnostic challenges, prolonged treatment duration and high disability rates. Current management of these infections faces multiple challenges, such as difficulties in early accurate diagnosis, and various controversies about the treatment plan, leading to poor overall diagnosis and treatment results. To address these issues, based on evidence-based medicine and principles with emphasis on scientific rigor, clinical applicability and innovation, the Trauma Branch of the Chinese Medical Association, Orthopedic Branch of the Chinese Medical Doctor Association, Orthopedics Branch of the Chinese Medical Association, and Trauma Orthopedics and Polytrauma Group of the Resuscitation and Emergency Committee of the Chinese Medical Doctor Association have collaboratively organized a panel of relevant experts to develop the Guideline for diagnosis and treatment of infection after internal fixation of closed lower limb fractures in adults ( version 2025). The guideline proposed 10 recommendations, aiming to provide a foundation for standardized diagnosis and treatment of postoperative infection in adults with closed lower limb fractures.

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.