Volume 105 · Issue 43 · 2025

Irreducible atlantoaxial dislocation (IAAD) refers to a pathological condition characterized by instability and difficulty in achieving reduction through traction, resulting from abnormalities in the bony or soft tissue structures around the atlantoaxial joint. Previous treatments primarily focused on palliative decompression, which often led to suboptimal outcomes. As the understanding of its pathology has evolved, reduction and fixation have emerged as core principles: adequate decompression is achieved through sufficient soft tissue release to enable reduction, followed by fixation and fusion. Anterior decompression combined with rigid internal fixation is indicated only when reduction is unattainable. Over the past two decades, release techniques and related concepts have continuously advanced. The combined anterior-posterior approach, transoral stepwise release technique (TSRT), and posterior facet distraction and fusion technique (PFDF) have been successively developed, each with its own specific focus. Currently, posterior techniques can address most cases; however, complex scenarios still require transoral release technology. In the future, diagnostic and therapeutic decision-making based on big data and artificial intelligence, along with the application of augmented reality technology, will represent new research directions in IAAD treatment.

Fusion genes represent a core molecular mechanism in the pathogenesis of acute promyelocytic leukemia (APL). In recent years, a novel type of tripartite retinoic acid receptor (RAR) fusion genes has been identified in atypical APL (aAPL), exhibiting distinct structural characteristics and pathogenic mechanisms compared to the classical bipartite fusion. This article systematically introduces relevant content in this field: it begins by outlining the long-standing scientific puzzle of inconsistent clinical resistance versus in vitro sensitivity in aAPL patients; subsequently, it describes the discovery process and structural features of tripartite fusion genes in all RARG and specific RARA-related cases, and elucidates the key molecular mechanism by which tripartite fusion leads to all-trans retinoic acid (ATRA) resistance at the protein conformational level; finally, the discovery of transposon involvement in the formation of tripartite fusions and its implications for the mechanism of fusion gene are discussed.

Autoimmune gastrointestinal dysmotility (AGID) is a manifestation of autoimmune autonomic dysfunction specifically affecting the gastrointestinal tract. As one of the causes of gastrointestinal dysmotility, it remains under-recognized in clinical practice. This article reviews the etiology, clinical types, related manifestations, diagnostic basis, evaluation methods, and current treatment approaches of AGID. It comprehensively elaborates on the pathogenesis, and current diagnosis and treatment status of AGID, aiming help clinicians deepen the understanding of the disease and improve the diagnosis, treatment and prognosis of gastrointestinal motility disorders of unknown cause.

Approximately 15%-25% paragangliomas and pheochromocytomas (PPGL) can metastasize. Untreated metastatic PPGL (MPP) patients have a 5-year survival rate below 50%, while standardized diagnosis and treatment can significantly improve prognosis. Currently, there has been no established national guidelines for MPP management in China. To address this gap, the Adrenal Group of Chinese Society of Endocrinology convened a multidisciplinary panel of experts from endocrinology, oncology, surgery, nuclear medicine, radiation oncology, pathology, laboratory medicine, and interventional therapy. Based on evidence-based medicine, the latest global research, and clinical data from China, the panel has developed a consensus statement. This consensus encompasses various aspects of MPP, including its epidemiology, pathogenesis, risk factors and prediction for dissemination, clinical manifestations, diagnosis, treatment, and prognosis. A total of 16 recommendation statements have been formulated, with the aim of assisting clinicians in developing standardized strategies for the diagnosis and treatment of MPP.

Replantation of amputated limbs is the most effective treatment for severe limb injuries, and allogeneic limb transplantation is also one of the potentially most effective methods to address limb amputation injuries in the future. The preservation and repair of severed limbs outside the body is a key factor in improving the success rate of limb replantation and transplantation. Currently, the techniques for preserving and repairing severed limbs outside the body include static refrigeration preservation technology, immersion in cryoprotective solution technology, deep cryogenic freezing technology, mechanical perfusion technology, temporary vascular shunt technology, autologous ectopic grafting technology, and experimental-stage xenogeneic cross-circulation technology. By optimizing key parameters such as temperature, pressure, and preservation solution, these techniques can extend the preservation time of the limbs and increase the success rate of replantation. Traditional techniques have a short preservation time and cannot meet clinical needs. Emerging technologies are in the ascendant and are subject to different opinions. National Clinical Research Center for Orthopedics Sports Medicine & Rehabilitation, the Microsurgery Branch of Chinese Medical Association and the Microsurgery Branch of Beijing Orthopedic Association, based on current evidence-based medical evidence, have formulated the "Clinical practice guidelines for the in vitro preservation and repair of severed limbs (2025 edition)". This guideline systematically evaluates a series of literature and related evidence-based medical research evidence published domestically and internationally in the field of organ preservation in recent years, and adds evidence-based medical research data based on the Chinese population, with the aim of further standardizing the relevant techniques for ex vivo preservation of amputated limbs in China, for industry reference.

In response to the urgent needs and existing challenges of stroke prevention and treatment in high-altitude areas, the Expert Committee of the Million Disability Reduction Project of the National Health Commission took the lead and jointly developed "Expert consensus on the construction of stroke centers at high altitude (2025 edition)" with multidisciplinary experts, on the bsais of the guidelines and standards for the construction of secondary and tertiary stroke centers in high-altitude areas. The consensus clarifies the purpose, the coverage, the initiating and supporting units, the expert group and the process of formulation. It elaborates the construction goals of stroke centers in high-altitude areas and the functional roles of secondary and tertiary stroke centers. It also specifies the organizational management structures for these centers, the construction standards for secondary and tertiary stroke centers, and the quality management systems for stroke prevention and treatment, etc. By providing a framework for the allocation of medical resources and quality oversight in plateau regions, this consensus aims to standardize the stroke diagnosis and treatment processes, enhance the efficiency and quality of stroke care, improve patient prognosis, and elevate the overall level of stroke medical service system construction in China. It is recommended to promote and apply it in relevant medical institutions in high-altitude areas.

To evaluate the clinical efficacy of posterior hemivertebra resection with short-segment fixation in the treatment of lumbosacral hemivertebra (LSHV) and to investigate the incidence and risk factors of postoperative coronal imbalance (CIB).

The clinical data of children with LSHV who underwent posterior lumbosacral hemivertebra resection with short-segment fixation at Nanjing Drum Tower Hospital from August 2005 to April 2023 were retrospectively analyzed. Based on coronal balance status at the final follow-up, the children were divided into the balanced group and the imbalanced group. The radiographic parameters before and after the operation were recorded, included the Cobb angle, coronal balance distance (CBD), pelvic obliquity (PO), sacral obliquity (SO), upper instrumented vertebra tilt (UIV tilt), sagittal vertical axis (SVA), thoracic kyphosis (TK), lumbar lordosis (LL), pelvic incidence (PI), pelvic tilt (PT), and sacral slope (SS). The differences in imaging indices between the two groups of children with LSHV were compared, variables associated with postoperative coronal imbalance were screened by the Least Absolute Shrinkage and Selection Operator (LASSO) regression model, and variables were included in multivariate logistic regression to analyze the risk factors for coronal plane imbalance after posterior lumbosacral hemivertebra resection with short-segment fixation for congenital lumbosacral deformity.

This study included 63 children with LSHV deformity, 32 males and 31 females, with a mean age of (7.2±3.8) years. The balanced group consisted of 49 patients, 24 males and 25 females, with a mean age of (7.3±4.1) years, and the imbalanced group consisted of 14 patients, 8 males and 6 females, with a mean age of (7.1±2.8) years. There was no statistically significant differences between the two groups in age, gender, follow-up time, hemivertebra location, or segmentation type (all P>0.05). Postoperatively, the Cobb angle and CBD improved significantly in both groups compared to the preoperative values (all P<0.05). At the final follow-up, the balanced group maintained good correction. However, the CBD in the imbalanced group worsened significantly at the final follow-up compared to the immediate postoperative value [(28.6±7.4) vs (16.5±8.8) mm, P<0.001]. Preoperatively, the CBD was greater in the imbalanced group than in the balanced group [(21.5±9.3) vs (12.2±10.0) mm, P=0.003], and this difference increased further at the final follow-up [(28.6±7.4) vs (12.8±7.1) mm, P<0.001]. Postoperatively, the UIV tilt was significantly greater in the imbalanced group than that in the balanced group (9.2°±5.5° vs 4.6°±3.3°, P<0.001). There was no statistically significant differences in other postoperative radiographic parameters between the two groups (all P>0.05). Multivariate logistic regression analysis showed that preoperative coronal classification type C [OR (95%CI)=5.691(1.161-27.909),P=0.032] and a larger postoperative UIV tilt [OR(95%CI)=1.204(1.001-1.449),P=0.048] were risk factors for CIB after surgery in LSHV children.

Preoperative coronal classification type C and a larger postoperative upper instrumented vertebra tilt angle are risk factors for coronal imbalance following posterior surgery for LSHV deformity.

To investigate the interaction between type 3 innate lymphoid cells (ILC3) and regulatory T cells (Treg) in patients with fibrostenotic Crohn′s disease (CD) using single-cell sequencing analysis.

The clinical data of patients diagnosed with fibrostenotic CD were retrospectively collected from the Department of Gastroenterology, the First Affiliated Hospital of Wenzhou Medical University (Wenzhou group) and the Department of Gastroenterology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (Ruijin group) between January 31, 2023, and June 30, 2024. Fresh intestinal fibrotic tissue samples and non-fibrotic intestinal tissue samples were obtained from each patient for single-cell RibonucleicAcid sequencing (scRNA-seq), differential gene enrichment analysis, etc.

The Wenzhou group included 1 patient (male, 29 years old). The Ruijin group included 6 patients [4 males, 2 females, with a median age of 41 (27-52) years]. All cells from the intestinal tissues of both groups were categorized into the following 9 major types: T lymphocytes/innate lymphoid cells (ILC), B lymphocytes, plasma cells, macrophages, epithelial cells, fibroblasts, mast cells, neutrophils, and glial cells. Co-analysis of cell types in the intestinal tissues from both groups revealed that the proportion of ILC3 was lower in fibrotic tissue compared to non-fibrotic tissue (0.71% vs 3.26%, P=0.042). Furthermore, in fibrotic tissues, the expression levels of genes related to antigen presentation, including chemokine motif ligand (CCL)3, CCL4, interferon-γ (IFN-γ), interleukin-2 receptor subunit alpha (IL2RA), regulator of calcineurin 2 (RCAN2), and tumor necrosis factor superfamily member 4 (TNFSF4) were higher in ILC3 compared to non-fibrotic tissues. In the Wenzhou group′s intestinal tissues, interactions were observed between ILC3 and Treg, epithelial cells and neutrophils. In the Ruijin group′s intestinal tissues, interactions were observed between ILC3 and Treg cells.

ILC3 disrupts the intestinal immune microenvironment through interactions with Treg cells, thereby promoting the progression of fibrostenotic CD.

To investigate the association between plasminogen activator inhibitor 1 (PAI-1) gene polymorphisms and the risk and clinical phenotypes of Crohn′s disease (CD).

The CD patients (CD group) and healthy controls (control group) at the Second Affiliated Hospital of Wenzhou Medical University between January 2020 and January 2025 were retrospectively collected. Genotypes of PAI-1 gene at loci rs6092, rs7242 and rs2227631 were examined. The distribution differences of PAI-1 gene polymorphisms were compared between CD group and control group, as well as among CD patients with different clinical phenotypes [disease location (terminal ileal-type, colonic-type, ileocolic-type, and upper gastrointestinal-type), disease behavior (non-stricturing non-penetrating-type, stricturing-type, and penetrating-type)]. Multivariate logistic regression models were used to analyze the association between PAI-1 gene polymorphisms and the risk and clinical phenotypes of CD.

The CD group consisted of 311 participants [202 males and 109 females, aged (32.2±12.8) years], while the control group consisted of 495 participants [318 males and 177 females, aged (32.3±13.1) years]. The variant genotype (GA+AA) [23.2% (72/311) vs 15.6% (77/495), P=0.021]and variant allele (A) [11.9% (74/622) vs 8.0% (79/990), P=0.027]of rs6092 were more frequent in the CD group than those in the control group. The variant genotype (TG+GG) of rs7242 was less frequent than that of the control group [68.2% (212/311) vs 76.0% (376/495), P=0.045]. The variant genotype (GA+AA) of rs6092 (OR=1.53, 95%CI: 1.06-2.21) and the variant genotype (TG+GG) of rs7242 (OR=0.72, 95%CI: 0.52-0.99)were factors associated with the risk of developing CD. The variant genotype (TG+GG) [64.0% (146/228) vs 79.5% (66/83), P=0.030] and variant allele (G) [41.9% (191/456) vs 54.2% (90/166), P=0.018] of rs7242 in the patients with colonic-type and ileocolic-type CD were less frequent than those with terminal ileal-type CD. The variant genotype (TG+GG) (OR=0.45, 95%CI: 0.24-0.82) of rs7242 was a factor associated with the colonic involvement (the disease location is colonic-type or ileocolic-type) in CD patients.

The variant genotype (GA+AA) of rs6092 is associated with an increased risk of CD. The variant genotype (TG+GG) of rs7242 is associated with a lower risk of developing CD and colonic involvement (the disease location is colonic-type or ileocolic-type).

To investigate the clinical characteristics and risk factors for mortality in children with very early-onset inflammatory bowel disease (VEO-IBD).

The children with VEO-IBD was retrospectively selected from the Children′s Hospital Affiliated to Zhengzhou University between January 2014 and December 2022. The children were stratified into the deceased group and the survival group based on clinical outcomes. The differences in clinical characteristics, laboratory findings, nutritional indicators, and treatment regimens were compared between the two groups. Multivariate logistic regression analysis was employed to identify risk factors associated with mortality in children with VEO-IBD.

A total of 67 patients were included, with 21 in the deceased group [17 males, 4 females; onset age M (Q₁, Q₃) 7.5 (0.5, 35.2) months] and 46 in the survival group [31 males, 15 females; onset age 19.5 (1.0, 51.5) months]. The deceased group exhibited higher incidences of single gene mutation (IL-10RA, IL-10RB, CYBB, DOCK8, BTK, TNFAIP3, ELANE, WASP) [100.0% (21/21) vs 32.5% (15/46), P<0.001], perianal disease behavior of the disease behavior [100.0% (21/21) vs 34.8% (16/46), P=0.003], severe malnutrition [85.7% (18/21) vs 32.5% (22/46), P=0.008], and growth impairment [90.5% (19/21) vs 23.9% (11/46), P=0.011] compared to the survival group. The deceased group showed elevated levels of erythrocyte sedimentation rate [(66±18) vs (31±9) mm/1 h], fecal calprotectin [(1 860±257) vs (916±274) μg/g], and interleukin (IL)-6 [(159±35) vs (103±27) ng/L] (all P<0.05). In contrast, weight-for-height Z-score (WHZ) [(-2.95±0.98) vs (-1.12±0.85) scores], weight-for-age Z-score (WAZ) [(-2.96±1.17) vs (-1.23±1.06) scores], and height-for-age Z-score (HAZ) [(-2.87±1.14) vs (-1.16±0.77) scores] in the deceased group were lower than those in the survival group (all P<0.05). Single gene mutation (IL-10RA、IL-10RB、CYBB、DOCK8、BTK、TNFAIP3、ELANE、WASP) (OR=25.753, 95%CI: 9.373-83.465), age<7.5 months (OR=33.528, 95%CI: 10.132-114.152), severe malnutrition (OR=6.534, 95%CI: 3.493-12.819), and a history of critical surgical intervention (OR=10.396, 95%CI: 7.501-20.313) were risk factors for mortality in children with VEO-IBD.

The children with VEO-IBD who died of VEO-IBD exhibited a state of hyperinflammation. Single gene mutation (IL-10RA、IL-10RB、CYBB、DOCK8、BTK、TNFAIP3、ELANE、WASP), age<7.5 months, severe malnutrition, and a history of critical surgical intervention are risk factors for mortality in children with VEO-IBD.

To investigate the effect of vascularized pedicled fascial subcutaneous ulnar nerve transposition surgery combined with intraoperative neurophysiological monitoring (IONM) in the treatment of moderate to severe cubital tunnel syndrome (CuTS). A retrospective analysis was conducted on clinical data of CuTS patients who underwent vascularized pedicled fascial subcutaneous ulnar nerve transposition surgery at Affiliated Hospital of Zunyi Medical University between January 2021 and December 2024. IONM was combined to assess nerve conduction function, comparing changes in compound muscle action potential (CMAP) parameters before and after ulnar nerve decompression. The patients were followed up until February 15, 2025. A total of 42 patients were included, consisting of 31 males and 11 females, with a mean age of (47±8) years and a median disease duration of 18 (2-86) months. There were 28 moderate cases and 14 severe cases. Intraoperative electrophysiological monitoring revealed that 28 patients successfully generated waveforms under compression. The conduction velocity [(36.52±8.66) vs (29.25±10.42) m/s] and amplitude [(4.12±0.44) vs (2.52±0.40) mV] of ulnar nerve after release were higher than those before release, and the latency period [(4.22±0.62) vs (5.45±0.66) ms] was shorter than that before release (all P<0.001). Among the 14 cases with no detectable waveforms preoperatively, 10 cases (71.42%) showed detectable waveforms intraoperatively. The median follow-up time was 22 (3-48) months, during which alleviation of nerve symptoms was observed in the short term (3-6 months), and the excellent rate of elbow tunnel syndrome functional score was 95.3% in the long term (>1 year), with no postoperative recurrence of nerve compression or iatrogenic injury. Vascularized pedicled fascial subcutaneous ulnar nerve transposition surgery combined with intraoperative IONM has a favorable effect for moderate to severe CuTS.

This paper reports a 33-year-old female patient with chronic arsenic poisoning caused by long-term overdose of Niuhuang Jiedu tablets (containing realgar, the main component is arsenic disulfide). Its clinical features include chronic diarrhea, diffuse skin pigmentation with raindrop depigmentation, palmoplantar keratosis, multiple peripheral neuropathy, multiple serous effusions and severe malnutrition-related manifestations. Toxic detection showed that the arsenic content in blood, urine, hair and nails was significantly increased. The final diagnosis was chronic arsenic poisoning and anorexia nervosa, and then the arsenic exposure was immediately terminated, and the patient's symptoms were significantly improved, and the urine arsenic level returned to normal after follow-up.

The patient, a 53-year-old female, was seen in the People's Hospital of Chuxiong Yi Autonomous Prefecture, Yunnan Province on March 30, 2024 due to "cough and expectoration for more than 1 month, chest tightness and shortness of breath for 10 days". CT of both lungs showed left pleural effusion. The T cell gamma interferon release test of tuberculosis infection was positive, the gamma interferon release test of Mycobacterium tuberculosis was positive, and the tuberculosis infection test was positive. Left tuberculous pleurisy was considered, and pleural effusion did not decrease after diagnostic antituberculosis and hormone therapy. Thoracoscopic pleural biopsy was performed to obtain sufficient pleural tissue. Immunohistochemical detection showed positive expression of BAP1, and fluorescence in situ hybridization showed homozygous deletion of cyclin-dependent kinase inhibitor 2A. The final diagnosis was pleural mesothelioma in situ. Regular review was recommended. The patient's condition was stable as of December 21, 2024.

A 15-year-old male went to Xuanwu Hospital of Capital Medical University on March 26, 2025 due to "unclear speech, numbness and fatigue of right hand for 17 days, and paroxysmal loss of consciousness with limb twitching for 7 days" without relevant past history. MRI of the skull showed a left caudate nucleus lesion with diffusion restriction, and positive anti-N-methyl-D-aspartate (NMDA) receptor IgG antibody in serum and cerebrospinal fluid, confirming the diagnosis of anti-NMDA receptor encephalitis. Positron emission tomography of translocating proteins (TSPO-PET) suggests neuroinflammation in the hippocampal-caudate circuit. After treatment with gamma globulin and methylprednisolone, the patient's condition gradually improved. This case revealed a rare caudate involvement pattern in anti-NMDA receptor encephalitis by TSPO-PET, providing an imaging basis for understanding its inflammatory mechanism.

The patient, a 75-year-old male, was seen in the People's Hospital of Xinjiang Uygur Autonomous Region on March 30, 2025 with "anemia found for more than 1 year and bleeding in his right eye for 4 days". Hemoglobin was 82 g/L, prothrombin time (PT) and partial thromboplastin time (APTT) were significantly prolonged, plasma prothrombin activity (PA) activity was low, and coagulation factor X was deficient. The effect of coagulation factor replacement therapy was not good. Perfect imaging showed hepatomegaly, thickened ventricular septum, plasma cells accounted for 9.5% of bone marrow morphology, and bone marrow flow cytology showed monoclonal plasma cells, positive urine current-week protein, and negative Congo red staining of bone marrow pathology; Previous rectal polyp biopsy was positive for Congo red staining, and the final diagnosis was systemic light chain (AL) type amyloidosis with coagulation factor X deficiency. Bleeding symptoms improved after treatment with pentezomib + cyclophosphamide + dexamethasone. After follow-up until 31 Jul 2025, the patient's anemia improved and no bleeding occurred again.

Itaconic acid is an endogenous metabolite, which plays an important regulatory role in metabolism-related fatty liver disease (MAFLD). Its mechanisms mainly include regulating energy metabolism, inhibiting oxidative stress, reducing inflammation, improving intestinal flora and resisting liver fibrosis. Animal experiments have shown that its derivatives have anti-inflammatory and metabolic regulatory effects. However, the clinical application of itaconic acid still faces challenges such as poor cell permeability and low bioavailability, and novel drug delivery systems provide the possibility for its translational application. In this paper, the mechanism of itaconic acid regulating MAFLD and its clinical application prospects were reviewed to provide reference for future research.

In recent years, organoids have shown great potential in the field of vaccine research and development and evaluation with their advantages such as high simulation, high throughput and low ethical burden. This paper systematically reviews the latest application progress of organoid technology in pathogen target cell recognition, high-throughput screening of vaccine candidate strains and immunogenicity assessment, focuses on its high-fidelity simulation ability in neutralizing antibody efficacy, germinal center response and cellular immune response, and discusses its potential in vaccine safety evaluation and analysis of differences in population immune response, as well as the challenges faced in the application process.

The 58-year-old female patient went to the emergency department of Liaocheng People's Hospital for "abdominal pain for 1 day" and was in good health. Physical examination showed mild tenderness in the lower abdomen, no rebound pain and muscle tension, normal intestinal sounds, and no sign of peritoneal irritation. Colonoscopy revealed multiple mucosal bulges in the transverse colon, sigmoid colon and rectum, 0.4-2.0 cm in diameter, translucent and smooth in surface (Figure 1, indicated by arrows). The axial position of plain abdominal CT scan showed clusters or vesicle-like low-density gas shadows in the colon wall corresponding to the endoscopic position (Figure 2, indicated by arrows); The multiplanar reconstruction images showed that a small amount of scattered free gas shadows could be seen around some diseased intestines and in the abdominal cavity (Figures 3 and 4, indicated by arrows). Combined with endoscopic and imaging findings, the final diagnosis was colonic balloon tumor combined with pneumoperitoneum. In view of the absence of fever, vomiting, obvious abdominal distension and peritoneal irritation, and stable vital signs, the patient was treated conservatively, including fasting, fluid rehydration, correction of water and electrolyte disorders and close observation, and the abdominal symptoms were significantly improved and the patient was successfully discharged. After 6 months follow-up, the patient had no recurrence or other digestive tract discomfort. There was no change in colonic air cyst after imaging review, and the free gas in the abdominal cavity was completely absorbed.