The armadillo repeat containing 5 (ARMC5) gene is part of a family of protein-coding genes that are rich in armadillo repeat sequences, are ubiquitously present in eukaryotes, and mediate interactions between proteins, playing roles in various cellular processes. Current research has demonstrated that reduced expression or absence of the ARMC5 gene in various tumor tissues can lead to uncontrolled cell proliferation, thereby inducing a range of diseases. The ARMC5 gene was initially extensively studied in the context of bilateral macronodular adrenocortical disease (BMAD), with harmful pathogenic variants in ARMC5 identified in approximately 50% of BMAD patients. With advancing research, scientists have discovered that ARMC5 pathogenic variants may also have potential effects on other diseases and could be associated with increased susceptibility to certain cancers. This review aims to present the latest research progress on how the ARMC5 gene plays its role in tumors. It outlines the basic structure of ARMC5 and the regions where it functions, as well as the diseases currently proven to be associated with ARMC5. Moreover, some evidence suggests its relation to embryonic development and the regulation of immune system activity. In conclusion, the ARMC5 gene is a crucial focal point in genetic and medical research. Understanding its function and regulation is of great importance for the development of new therapeutic strategies related to diseases associated with its pathogenic variants.
Humans ; Neoplasms/genetics* ; Armadillo Domain Proteins/genetics* ; Animals ; Genetic Predisposition to Disease ; Cytoskeletal Proteins/genetics* ; Tumor Suppressor Proteins/genetics*

Objective:To analyze the clinical characteristics and prognosis of primary autoimmune cerebellar ataxia (PACA) patients with autoantibodies.Methods:Patients from the Department of Neurology, Peking Union Medical College Hospital (from March 2013 to December 2023) who met the modified diagnostic criteria of PACA were collected. Cell based assay and tissue based assay were used to detect anti-cerebellar antibodies. The clinical features, results of neuroimaging, cerebrospinal fluid examinations and the prognosis of the patients were analyzed. Modified Rankin Scale (mRS) score≤2 at the last follow-up was defined as a favorable prognosis. Exacerbation of cerebellar ataxia after clinical improvement or stabilization for at least 2 months was defined as relapse.Results:A total of 20 patients were included, including 7 males. The onset age was 48.4 (22.8, 59.3) years. Gait ataxia was the most common cerebellar symptom. Extracerebellar neurological abnormalities included pyramidal sign, peripheral neuropathy/radiculopathy and diplopia. Elevated cerebrospinal fluid white blood cells and positive specific oligoclonal bands were observed in 4/16 and 7/15 of patients, respectively. The brain magnetic resonance imaging examination of the patients showed that 8 patients had no obvious abnormalities, 9 patients showed cerebellar atrophy, and 3 patients showed abnormal signals in the brain or cerebellum. A total of 9 different anti-cerebellar antibodies were detected in the patient′s serum and (or) cerebrospinal fluid, with the most common being anti-Homer-3 antibodies ( n=7). After immunotherapy, 13/17 of patients improved. After 37.5 (21.0, 93.0) months of follow-up, the median mRS score of the patients was 3, and 8 patients (8/20) achieved good prognosis and 6 patients experienced disease recurrence. Conclusions:The clinical manifestations of PACA patients have certain heterogeneity, and positive anti-neuroantibodies and meeting PACA diagnostic criteria are the main basis for diagnosing the disease. Immunotherapy is effective for most patients, but there is still a considerable proportion of patients who have not achieved a good long-term functional prognosis.

Objective:To analyze the clinical characteristics, RAN-binding protein 2 ( RANBP2) gene variations, and prognosis in Chinese acute necrotizing encephalopathy (ANE) patients. Methods:A retrospective analysis of ANE cases registered in the Peking Union Medical College Hospital Encephalitis Registry System from 2022 to 2024, involving patients from Peking Union Medical College Hospital and other hospitals, was conducted. A descriptive study was performed on the clinical characteristics, treatments and prognosis, cerebrospinal fluid examination results, and imaging findings of these patients based on adjusted ANE diagnostic criteria. Whole-exome sequencing technology was used to detect gene mutations in these patients.Results:A total of 18 ANE cases were included, ranged in age from 2 to 72 [20(5, 43)] years. The male-to-female ratio was 4∶5. All patients were found with precipitating infections including COVID-19, influenza A virus and Mycoplasma pneumoniae infections. All patients presented with fever, with varying degrees of consciousness disturbance observed in 16 cases, and seizures in 10 cases. All patients underwent lumbar puncture, with normal or mildly elevated white cell counts [3(2, 13)×10 6/L] and mildly to moderately elevated protein levels [1.90(0.92, 4.65) g/L]. A total of 6 patients were found with extremely elevated interleukin-6 level [950(164, 2 000) pg/ml] in cerebrospinal fluid. Bilateral symmetric thalamic lesions were typical imaging features of ANE, while involvement of other areas such as cortical and subcortical white matter, brainstem, and cerebellum was also observed. A total of 14 patients performed genetic tests while 4 patients were identified with RANBP2 gene mutations (c.1754C>T in 3 cases, c.1966A>G in 1 case). All patients received immunotherapy, and 7 patients died at discharge while other patients presented with neurological sequelae of varying degrees. Conclusions:ANE is a rare and severe parainfectious encephalopathy that can occur in both children and adults. Clinically, it is characterized by rapidly progressing encephalopathy following systematic infection, with bilateral symmetric thalamic lesions. The detection of RANBP2 gene mutations could help make the diagnosis.

Objective:To investigate the treatment regimens, therapeutic effects, and adverse events of immune checkpoint inhibitors (ICI) in the treatment of progressive multifocal leukoencephalopathy (PML).Methods:A retrospective analysis was performed on patients with PML who received ICI treatment at the Department of Neurology of Peking Union Medical College Hospital from October 2020 to September 2024. The patients′ demographic characteristics, baseline immune status, clinical manifestations, laboratory tests, treatment regimens, and clinical outcomes were analyzed.Results:A total of 2 male patients with PML, aged 40 and 59 years, received ICI treatment. One patient had underlying combined immunodeficiency, while the other had acute myeloid leukemia subtype M2 and had previously undergone umbilical cord blood stem cell transplantation. Both patients were treated with pembrolizumab (dosage range: 2-3 mg/kg, administered every 3-4 weeks), receiving a total of 2-4 courses of treatment. In terms of therapeutic effects, both patients showed significant improvement. Regarding adverse events, 1 patient experienced immune-related adverse event (irAE) of immune-related pneumonia combined with immune-related hypophysitis.Conclusions:ICI may be an effective treatment option for PML. However, the use of ICI may be accompanied by the occurrence of irAE, necessitating close monitoring during treatment.

Objective:To explore the relationship between the dynamic alterations of immune cell subsets in a patient with autoimmune encephalitis and the clinical relapses.Methods:For a patient with multiple relapses of anti-N-methyl-D-aspartate receptor encephalitis superimposed with myelin oligodendrocyte glycoprotein antibody-associated disease who visited Peking Union Medical College Hospital on July 18, 2018, the lymphocyte subsets were monitored dynamically over a long period and the relationship between lymphocyte subsets and the relapses was summarized.Results:The 38-year old male patient experienced a total of 5 episodes (including 4 relapses) during the six-year immunotherapy and follow-up process, and responded well to first-line and maintenance immunotherapy. His relapses occurred during drug reduction. Finally, the neurological symptoms resolved after rituximab treatment. A total of 39 tests of peripheral blood lymphocyte subsets were conducted during the follow-up, and 5 peaks of elevated CD19 positive B cells, 9 peaks of elevated CD3 positive T cells and 11 peaks of elevated natural killer cells were observed. The peak period of peripheral blood CD19 positive B cells exactly coincided with clinical relapses. While the consistency rates of clinical relapse and the peaks of peripheral blood CD3 positive T cells and natural killer cells were 5/9 and 2/11, respectively.Conclusions:The dynamic alterations of CD19 positive B cells in peripheral blood are correlated with the clinical relapse of autoimmune encephalitis and can predict clinical relapse.

Objective:To identify the clinical characteristics and prognosis of patients with hematological disease and neutropenic sepsis in the hematological intensive care unit (HCU).Methods:A retrospective analysis was conducted on patients with hematological disease and sepsis who admitted to HCU, the First Affiliated Hospital of Harbin Medical University from October 2017 to October 2024, to examine the primary therapeutic options, prognosis, cause of death, and infectious features of sepsis.Results:A total of 245 septic patients were included in the study, comprising 88 cases in the neutropenic sepsis group (neutropenic group) and 157 cases in the non-neutropenic sepsis group (non-neutropenic group). Acute leukemia was more prevalent in the neutropenic group [55.68% (49/88) ]. At the time of admission to the HCU, the neutropenic group exhibited unstable vital signs, lower blood cell counts, higher inflammatory markers, elevated Sequential Organ Failure Assessment (SOFA) scores, increased creatinine levels (120.00 μmol/L vs 77.10 μmol/L, P<0.01), higher total bilirubin levels (24.70 μmol/L vs 17.90 μmol/L, P<0.01), and significantly elevated B-type natriuretic peptide levels (567.90 ng/L vs 134.50 ng/L, P<0.01) compared with the non-neutropenic group. Furthermore, septic shock was more common in the neutropenic group [53.40% (47/88) vs 36.94% (58/157), P<0.05]. The mortality rate was also higher in the neutropenic group [46.59% (41/88) ] compared with the non-neutropenic group [32.48% (51/157) ] ( P<0.05), with septic shock accounting for the majority of deaths [70.73% (29/41) ]. Infections caused by gram-negative bacteria [55.68% (49/88) vs 36.30% (57/157), P<0.01] and fungi [14.77% (13/88) vs 6.36% (10/157), P<0.05] were more common in the neutropenic group. However, lung infections were significantly less frequent in the neutropenic group ( P<0.01). Kaplan-Meier survival analysis revealed a substantially worse 28-day overall survival rate for the neutropenic group compared with the non-neutropenic group ( P<0.05) . Conclusion:Patients with hematological diseases and neutropenic sepsis presented with more severe clinical conditions, a higher likelihood of organ failure and septic shock, and significantly increased mortality compared with patients with non-neutropenic sepsis.

Establishing hematology care units (HCU) is essential for strengthening hematology-specific critical care capacity. This article outlines two HCU operational models in China—the ICU model and the pre-ICU model—and discusses practical insights from their implementation. It recommends establishing HCU within hematology wards, equipped for respiratory and hemodynamic monitoring and blood purification, and led by hematologists trained in critical care or by teams collaborating efficiently with general ICU through standardized workflows. For units not yet meeting these standards, establishing a resuscitation room and strengthening critical care training are advised. HCU primarily admit patients with severe or life-threatening bleeding due to hematologic diseases, severe infections or septic shock, early complications of newly diagnosed acute myeloid leukemia or acute promyelocytic leukemia (AML/APL), treatment-related complications, rapidly progressive or highly lethal conditions, and those requiring organ support or blood purification. Emphasis is placed on quantitative assessment of disease severity and timely transfer to the HCU, using tools such as the National Early Warning Score, quick Sequential Organ Failure Assessment (qSOFA), SOFA/ΔSOFA, and the Multinational Association of Supportive Care in Cancer risk index for patient stratification. Early implementation of sepsis bundles is emphasized. For organ support, high-flow nasal cannula oxygen therapy is prioritized to improve oxygenation. Continuous renal replacement therapy is performed when there are indications such as renal failure with oliguria or anuria, congestive heart failure, or drug overdose, etc. Treatment of the underlying hematologic disease follows a "three-tier stratification" and "watch-and-adjust" strategy, while respecting patient preferences. We encourage eligible hematology centers to actively establish HCU, explore new care models, and strengthen hematology-specific critical care capacity.

Objective To analyze the characteristics of oral and maxillofacial injuries from military training and provide references for related prevention and treatment.Methods A retrospective analysis was conducted of the medical records of 111 patients with oral and maxillofacial military training injuries treated between 2014 and 2023.Results From 2014 to 2023,the number of hospitalized patients with maxillofacial military training injuries in the hospital trended upward.The top 3 training injuries in the spectrum of diseases were maxillofacial fractures(45.08％),maxillofacial space infections(28.83％),and temporomandibular joint injuries(18.92％).The average number of hospitalizations for all maxillofacial military training injuries was 1.33(1-4),and the median length of hospital stay was 8(5,12)days.The median hospitalization cost was 14 793.23(5236.18,24 255.25)yuan,and the improvement rate was 95.50％.Conclusion The number of patients hospitalized due to oral and maxillofacial military training injuries in this hospital is increasing year by year,and the injuries are mostly jaw fractures.Precautions should be taken to prevent maxillofacial training injuries.

Objective To explore the effect of early weight-bearing functional exercise on the postoperative function and satisfaction of patients with anterior talofibular ligament rupture.Methods Sixty patients with anterior talofibular ligament rupture admitted to Nanchang Hongdu Hospital of Traditional Chinese Medicine from June 2022 to June 2024 were included.According to the random number table method,the patients were divided into conventional group and early weight-bearing group,with 30 cases in each group.The American Orthopedic Foot and Ankle Society ankle-hindfoot scale(AOFAS-AHS)scores,Cumberland ankle instability tool(CAIT)scores,joint position sense active(JPSA)and joint position sense passive(JPSP)of ankle joint before and after the operation,and postoperative satisfaction of two groups of patients were compared.Results Six months after the operation,the AOFAS-AHS scores and CAIT scores of two groups were significantly higher than those before the operation,and the JPSA and JPSP were significantly lower than those before the operation(P＜0.05).The AOFAS-AHS score and CAIT score of patients of early weight-bearing group were significantly higher than those of conventional group,while the JPSA and JPSP were significantly lower than those of conventional group(P＜0.05).The satisfaction rate of patients of early weight-bearing group was significantly higher than that of conventional group(76.6％vs.66.6％,x2=6.205,P＜0.001).Conclusion Early weight-bearing functional exercise can improve the postoperative function of patients with anterior talofibular ligament rupture and enhance their postoperative satisfaction.

Objective:To investigate the correlation between peri-coronary fat attenuation index (FAI) and plaque formation in patients with myocardial bridge (MB) of the left anterior descending artery (LAD) using coronary computed tomography angiography (CCTA) and to develop an optimal predictive model to explore the potential application of FAI in the primary prevention of MB related atherosclerosis.Methods:In this retrospective study, prediction models associated with perivascular fat inflammation were developed and validated using both logistic regression and machine learning (ML) algorithm. A training dataset was collected from 253 patients who underwent ≥2 coronary computed tomography angiography (CCTA) with ≥3 months intervals from one tertiary hospital from January 2007 to April 2021 and had baseline CCTA showing no plaques in LAD MB. The median follow-up time was 3.2 years. According to the same criteria, a total of 75 LAD MB patients from four other hospitals were included to form an independent external validation dataset, with a median follow-up time of 1.8 years. Receiver operating characteristic (ROC) curve analysis with integrated discrimination improvement (IDI) and category net reclassification index (NRI) were used to compare the performance of the predictive models.Results:62 patients (24.5%) in the training dataset had proximal plaque formation in LAD MB, while 22 patients (29.3%) in the external validation dataset had plaque formation during the follow-up period. Baseline FAI within the longitudinal distance equal to 30 mm proximal to the MB entrance was an independent predictor ( OR=1.068, P=0.046). According to the model results, ROC curves were plotted. The AUC of Model 1 was 0.822, and the AUCs of Model 2 and 1 were 0.821 and 0.591 in the training dataset. After the DeLong test, the AUC of Model 1 was superior to that of Model 2 ( Z=2.839, P=0.005) and Model 1 ( Z=6.124, P<0.001). These findings were further validated in the external validation dataset, where ML-model 3 yielded the best predictive performance, outperforming the logistic regression-based Model 2 (categorical NRI=0.359, P=0.048; IDI=0.108, P=0.046). Conclusion:FAI measured within the 30 mm proximal to the entrance of MBs due to its prone to plaque development is an independent predictor for atherosclerotic plaque formation. The ML-prediction model based on a decision tree algorithm combines FAI, MB anatomical features, and patient risk factors, which is beneficial for patients undergoing routine CCTA examination to identify inflamed coronary arteries in advance and guide the clinical adoption of more targeted preventive treatment, including anti-inflammatory treatment.