Volume 105 · Issue 45 · 2025

Moyamoya disease shows a notably higher prevalence in East Asian populations, particularly in Japan, Korea, and China, compared to Western countries. Recent epidemiological data from several provinces in China indicate that its incidence and prevalence continue to rise. Moyamoya disease can lead to both ischemic and hemorrhagic strokes, posing significant challenges to patients′ long-term prognosis and to the public health system. The pathogenesis of moyamoya disease involves genetic, immune, and environmental factors; however, the exact mechanisms remain unclear. The indications and timing for diagnostic modalities and therapeutic interventions are still debated, highlighting the urgent need for evidence-based clinical management guidelines. Based on the characteristics of the Chinese population and the latest international research, this guideline provides comprehensive and systematic recommendations on epidemiology and population screening, clinical presentation and diagnosis, therapeutic strategies and selection, postoperative prognosis evaluation and follow-up, as well as the individualized management of special populations with moyamoya disease. A total of 35 recommendations are proposed, aiming to offer practical guidance for physicians and other healthcare professionals, further standardize diagnostic and therapeutic processes, improve the quality of care, and lay the foundation for future research. The main features of the recommendations in this guideline are as follows: (1) systematically reviewing domestic and international evidence and integrating it with clinical practice in China; (2) proposing a diagnosis and treatment process for Moyamoya disease that is suitable for the national context; (3) clarifying strategies for suspected diagnosis, confirmed diagnosis, differential diagnosis, and disease assessment; (4) emphasizing multi-modal comprehensive treatment including surgery, interventional procedures, and medication; (5) focusing on full-process follow-up management including prevention, screening, risk assessment, diagnosis and treatment, and rehabilitation; (6) highlighting multidisciplinary team collaboration and shared decision-making between doctors and patients.

To investigate the characteristics of plasma exosomes from patients with acute myeloid leukemia (AML) and explore their effects on the expression of leukemia stemness-related genes and natural killer (NK) cell function in vitro experiments.

The newly diagnosed AML patients (the AML group) and healthy individuals undergoing routine physical examinations (the control group) in the First Affiliated Hospital of Soochow University between October 1, 2022, and May 31, 2024 were retrospectively included. Peripheral blood plasma exosomes of the both groups were isolated. Transmission electron microscopy (TEM), nanoparticle tracking analysis (NTA), and Western blotting (WB) were used to compare the morphology, size distribution, protein concentration, and surface marker protein expression. Enrich differentially expressed proteins in exosomes of two groups and analyze pathway enrichment. Leukemia cells treated with different methods were divided into the negative group [treated with phosphate-buffered saline (PBS)], the low-concentration group (treated with 5 mg/L plasma exosomes from AML patients) and the high-concentration group (treated with 10 mg/L plasma exosomes from AML patients). The mRNA expression levels of stemness-related genes (BMI1, OCT4, KLF4, NANOG) in leukemia cells of each group were compared. NK cells treated with different methods were divided into the blank group (treated with PBS), the control group 1 (treate with plasma exosomes from the 10 mg/L control group), and the AML group 1 (treated with plasma exosomes from the 10 mg/L AML group). The killing activity of NK cells against K562 target cells and the expression changes of CD158 series receptors in each group were compared.

The AML group included 60 patients [37 males, 23 females; age (51±12) years], and the control group included 20 individuals [8 males, 12 females; age (58±17) years]. TEM and NTA analyses revealed that plasma exosomes from the AML group and the control group exhibited similar morphology and size distribution. The exosome protein concentration in the AML group was higher than that in the control group [ (281±34) vs (244±24) mg/L, P=0.011]. A total of 62 differentially expressed proteins were identified, mainly enriched in the phosphatidylinositol 3-kinase-protein kinase B (PI3K-Akt) signaling pathway. In the low-concentration group, the mRNA expression levels of leukemia stemness-related genes BMI1 (6.96±1.19 vs 1.00±0.19), OCT4 (1.51±0.32 vs 1.03±0.06), KLF4 (2.18±0.81 vs 1.03±0.03), and NANOG (5.00±2.47 vs 0.93±0.06) were higher than those in the negative group; In the high-concentration group, the mRNA expression levels of leukemia stemness-related genes BMI1 (9.06±3.31 vs 1.00±0.19), OCT4 (1.62±0.33 vs 1.03±0.06), KLF4 (2.32±0.34 vs 1.03±0.03) were higher than those in the negative group (all P<0.05). The killing rate of NK cells against K562 target cells in the AML group 1 (76.95%±3.52% vs 85.75%±1.67% and 87.60%±0.85%, respectively), and the expression level of CD158i on NK cells (33.14%±1.82% vs 41.40%±2.84% and 43.95%±0.08%, respectively) were lower than those in both the control group 1 and the blank group (all P<0.05).

Plasma exosomes from AML patients show similar morphology and size distribution compared with healthy controls, but the protein expression level is higher than that in the control group. Exosomes can enhance the transcription of leukemia stemness-related genes and suppress NK cell cytotoxicity and surface expression of CD158i receptors.

To compare the intraoperative neurophysiological monitoring (IONM) results between patients with Marfan syndrome (MFS) and adolescent idiopathic scoliosis (AIS) undergoing posterior spinal correction surgery, and to evaluate the clinical applicability of IONM in MFS patients.

Clinical data of MFS patients undergoing correction surgery from August 2012 to August 2024 in Nanjing Drum Tower Hospital were retrospectively reviewed. Female AIS patients with comparable age and curve type to the MFS cohort were matched as the control group. The demographic data, latency and amplitude of samatosensory evoked potential (SSEP) and transcranial electric motor evoked potential (TCeMEP) measured between the completion of anesthesia and initiation of surgical procedures were compared between groups to analyze the differential outcomes and clinical utility of IONM during spinal correction surgery in MFS patients.

The MFS group included 42 patients (17 males and 25 females) with an age of 14.0 (13.0, 16.0) years. The Cobb angle of main curve was 84.6°±28.8°, with a curve length of 12.0 (11.0, 14.0) vertebrae. The control group consisted of 42 female AIS patients with an age of 13.5 (13.0, 18.0) years. The Cobb angle of main curve was 76.0°±18.3°, with a curve length of 12.0 (10.8, 15.0) vertebrae. No significant differences were observed between groups (all P>0.05), indicating comparable baseline characteristics. The success rates of SSEP and TCeMEP were 97.6% and 85.7% for MFS patients, 100% and 100% for AIS patients. The SSEP-P40 latency, SSEP-N50 latency, TCeMEP-latency, TCeMEP-amplitude on the concave and convex sides of MFS patients were all higher than those of AIS patients, but the SSEP-amplitude on the concave side of MFS patients was lower than that of AIS patients (all P<0.05). The SSEP-amplitude on the convex side of MFS patients was lower than that of AIS patients but with no statistical difference [1.8 (1.2, 2.2)μV vs 2.1 (1.4, 2.8)μV, P=0.071]. The side-difference of TCeMEP-latency was higher while the side-difference of TCeMEP-amplitude was lower in MFS patients when compared with that in AIS patients, however, the differences were not statistically significant [(0.6±4.1) ms vs (0.2±1.9) ms, P=0.266;-13.5 (-206.4, 163.4)μV vs (37.3±317.7)μV, P=0.616](all P>0.05). During the operation, the monitoring of TCeMEP on the concave side disappeared in one MFS patient, two screws at the apical region were removed and the monitoring of TCeMEP recovered after 10 minutes, with no postoperative neurological deficit observed.

The success rates of SSEP and TCeMEP are both high in MFS patients. The SSEP-P40 latency, SSEP-N50 latency, TCeMEP-latency and TCeMEP-amplitude on both concave and convex sides of MFS patients are all higher than those of AIS patients, while the SSEP-amplitude on the concave side of MFS patients is lower. IONM has certain application value in MFS orthopedics surgery.

To explore the angioarchitecture characteristics of thoracic spinal cord arteriovenous malformation (SCAVM) and the influencing factors of prognosis in different treatment strategies.

The clinical, imaging, and follow-up data of patients with thoracic SCAVM who were treated at Xuanwu Hospital, Capital Medical University, and Beijing Haidian Hospital between January 2007 and December 2023 were retrospectively collected. The patients were categorized into the embolization group (receiving embolization only) and the microsurgery group(receiving microsurgery, regardless of prior embolization). The angioarchitecture characteristics and prognostic differences between treatment strategies were compared. Multivariate logistic regression analysis was performed to identify the influencing factors of prognosis.

A total of 539 patients with thoracic SCAVM were included, including 248 females (46.0%) and 291 males (54.0%,), with a median age at onset of [M(Q₁, Q₃)] 23 (15, 31) years. The upper thoracic lesions showed higher proportions of nidus-type [88.8% (119/134) vs 72.1% (292/405)], embedded lesion [58.2% (78/134) vs 43.2% (175/405)], metameric lesion [45.5% (61/134) vs 29.6% (120/405)], and anterior sulcal artery supply [61.2% (82/134) vs 47.2% (191/405)] than lower thoracic lesions (all P<0.05). There were 317 patients(58.8%) in the embolization group and 222 patients(41.2%) in the microsurgery group. The complete obliteration rate was significantly higher in the microsurgery group than that in the embolization group [62.2% (138/222) vs 27.8% (88/317), P<0.001]. A history of preoperative neurological deterioration was identified as a common risk factor of poor prognosis in both treatment strategies (embolization: OR=1.849, 95%CI: 1.153-2.965; microsurgery: OR=2.067, 95%CI: 1.170-3.650).

The upper thoracic SCAVM exhibits more complex angioarchitecture and greater treatment difficulty, while preoperative neurological deterioration is a risk factor for unfavorable prognosis.

To investigate the predictive value of high-sensitivity cardiac troponin T (hs-cTnT) for in-hospital mortality in patients with spontaneous intracerebral hemorrhage (sICH).

The patients with sICH admitted to West China Hospital and West China Shangjin Hospital of Sichuan University between November 2016 and December 2018 were rstrospectively enrolled.Demographic, clinical, laboratory, and imaging data were collected. The patients were divided into quartiles according to serum hs-cTnT levels, and trend tests were performed. According to the survival status of patients during hospitalization, the patients were categorized into the survival and death groups. Multivariate logistic regression was used to identify independent factors associated with in-hospital mortality. A fully adjusted model including conventional risk factors was constructed, and hs-cTnT was further incorporated to compare predictive performance. Meanwhile, stratified analysis was conducted in age, gender and Glasgow Coma Scale score subgroups. Receiver operating characteristic (ROC) curves were applied to evaluate the predictive performance of hs-cTnT alone and after its inclusion in the risk model for in-hospital mortality.

A total of 485 sICH patients were included, with a mean age of (63.0±14.0)years, and 329 (67.8%) were male. There were 386 patients (79.6%) in the survival group and 99 patients (20.4%) in the death group. The hs-cTnT level was higher in the death group than that in the survivor group [18.2 (10.9, 36.8) ng/L vs 11.4 (7.7, 19.6) ng/L, P<0.001]. The elevated hs-cTnT was associated with in-hospital mortality (OR=1.84, 95%CI: 1.31-2.59). When stratified by hs-cTnT quartiles, the patients in the highest quartile had a 6.98 times higher risk of death compared with those in the lowest quartile (OR=6.98, 95%CI: 2.11-23.10). After incorporating hs-cTnT into the fully adjusted model, the predictive efficacy of in-hospital mortality was significantly improved [C-statistic: 0.859 (0.818-0.896) vs 0.874 (0.838-0.911), P=0.019]. Subgroup analysis indicated that the predictive value of hs-cTnT was more significant in male patients(P=0.019) aged<70 years (P=0.021), and those with more severe disease (P=0.098).

The elevated hs-cTnT is an independent predictor for in-hospital mortality in sICH patients without pre-existing cardiac disease. Incorporating hs-cTnT into conventional risk factor models can significantly improve the predictive performance for in-hospital mortality risk.

To identify potential factors influencing moderate-to-severe postoperative platelet decline trajectory changes after endovascular aneurysm repair (EVAR) for abdominal aortic aneurysm (AAA).

Clinical data of patients with AAA who underwent EVAR at Changhai Hospital, Naval Medical University, between January 2000 and February 2024 were retrospectively analyzed. According to previous trajectory analyses, postoperative platelet trajectories were classified into four groups: mild decline, moderate decline, severe decline, and increase. The LASSO regression model was applied to perform initial variable selection from 81 candidate predictors, followed by unordered multinomial logistic regression model to identify factors associated with different platelet trajectory categories.

A total of 1 911 patients were included [mean age (71.4±9.3) years; mean body mass index (BMI) (23.7±3.4) kg/m²; 1 602 males and 309 females]. The unordered multinomial logistic regression analysis of the 21 independent variables selected by the LASSO regression model (with the mild decline group as the reference) revealed that intraoperative blood transfusion [OR (95%CI): 3.930 (1.746-8.845); 1.761 (1.005-3.086)], female sex [2.009 (1.120-3.605); 2.318 (1.682-3.194)], advanced age[1.054 (1.026-1.084); 1.032 (1.017-1.047)], higher preoperative platelet count [1.035 (1.030-1.039); 1.021 (1.019-1.024)], larger aneurysm volume [1.007 (1.004-1.011); 1.006 (1.004-1.009)], longer operative time [1.004 (1.001-1.007); 1.005 (1.003-1.007)], greater intraoperative blood loss [1.001 (1.001-1.002); 1.001 (1.000-1.002)], higher BMI [0.872 (0.809-0.939); 0.933 (0.898-0.971)] and the use of expanded polytetrafluoroethylene grafts [with the polyethylene terephthalate group as the reference: 0.433 (0.219-0.859); 0.463 (0.322-0.667)] were associated with severe and moderate postoperative platelet decline trajectories.

Intraoperative transfusion, sex, age, BMI, graft material, preoperative platelet count, and aneurysm volume were identified as significant determinants of moderate and severe postoperative platelet decline trajectory changes.

The patient diagnosed with congenital fibrinogen deficiency at Xijing Hospital of Air Force Medical University on December 8, 2024, was enrolled retrospectively. The genetic variant locus and molecular pathogenic mechanism of the proband′s family were analyzed. The patient is a 2-year-old female. A heterozygous variant c.836 G>A (p.Trp279Ter) was identified in exon 6 of the FGB gene, which was classified as "pathogenic" based on the variant interpretation criteria. The identical variant was also detected in her father and paternal grandmother. Relevant examinations revealed fibrinogen (FIB) deficiency or dysfunction, impaired FIB polymerization, and changes in FIB protein structure that are harmful. This study reports a novel FGB gene variant c.836 G>A (p.Trp279Ter), thereby providing substantial evidence for its pathogenicity.

The patient, a 62-year-old male, went to Suzhou Hospital of Traditional Chinese Medicine on March 9, 2025 for "paraanal distension and pain for more than 1 month". Pelvic CT showed a mixed density mass on the left side of the anal canal, with unclear boundaries, uneven internal density, cystic necrosis, uneven enhancement scan and progressive moderate enhancement. Anal MRI showed a mass-like abnormal signal mainly with cystic components in the left ischioanal fossa, T₁The weighted image showed isosignal, T₂The weighted image showed a slightly high signal, and the lesion was closely related to the external anal sphincter, which was uneven and obviously enhanced after enhancement. Biopsy pathology confirmed undifferentiated pleomorphic sarcoma (malignant fibrous histiocytoma). The patient was treated with palliative care after discharge.

Hypocraving diabetes insipidus is a special type of central diabetes insipidus, not only with arginine vasopressin deficiency, but also with abnormalities in the hypothalamic craving center. Patients often suffer from hypernatremia and increased plasma osmotic pressure due to decreased or lack of thirst, which leads to inability to actively ingest enough water in time. In severe cases, complications such as deep vein thrombosis, epilepsy, rhabdomyolysis and acute renal failure can occur. Compared with central diabetes insipidus without abnormal thirst, it has great clinical harm and poor prognosis. Clinical diagnosis requires not only clarification of the presence or absence of central diabetes insipidus in the patient, but also assessment of the extent of craving abnormalities. Because the patient has abnormal thirst and cannot take the initiative to enter water, the clinical management of this type of patient is challenging, and comprehensive management is needed. This article reviews the understanding, diagnosis, etiology diagnosis and clinical management of the disease, in order to improve the understanding of the clinicians and improve the prognosis of the disease.

Colony-stimulating factor 1 receptor (CSF1R) microglial encephalopathy is a rare hereditary neurodegenerative disease in which microglial dysfunction is triggered by mutations in the CSF1R gene, resulting in impaired cognitive-motor networks. Combining the highly heterogeneous clinical manifestations of the disease and the challenges of its early diagnosis, this paper clarifies the key of multidisciplinary collaboration and multimodal assessment, and focuses on analyzing the pathological mechanisms driven by CSF1R mutations, including neuroinflammation, synapse loss and myelin aplasia. Finally, by reviewing treatment strategies such as hematopoietic stem cell transplantation, CSF1R targeted inhibitors and microglia replacement therapy, it provides a new direction for accurate intervention of diseases.

ETV6-associated thrombocytopenia (ETV6-RT) is a rare form of autosomal dominant thrombocytopenia characterized by thrombocytopenia and potential haematological tumor risk. The disease is rare, the clinical understanding is insufficient, and it is often misdiagnosed and missed. This paper first introduces the structure and function of ETV6, the relationship between ETV6 mutation and ETV6-RT from the pathogenesis; Then summarize the clinical manifestations of ETV6-RT; Then, the diagnosis and differential diagnosis of ETV6-RT were discussed from different angles; Finally, the treatment and management of ETV6-RT were reviewed. The aim is to strengthen clinicians' deeper understanding of the pathogenesis, diagnosis and treatment of ETV6-RT, so as to improve clinical understanding of this disease.

Gout is a type of arthritis caused by urate crystals. In an acute attack, severe joint redness, swelling, heat and pain can occur, and the attacks can be repeated. Although traditional anti-inflammatory treatments such as colchicine, non-steroidal anti-inflammatory drugs and glucocorticoids are first-line treatment options, some patients have problems such as insufficient treatment response, drug intolerance or contraindications. The interleukin-1 (IL-1) signaling pathway plays a key role in the initiation and amplification of gout inflammation. This paper reviews the mechanism of IL-1 in gout inflammation, the good anti-inflammatory effect and safety of IL-1 inhibitors, and the current research status of IL-1 inhibitors in the treatment and prevention of acute gout attacks, so as to provide reference for standardized application and future research.