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 investigate the efficacy and safety of hyperthermic intraperitoneal chemotherapy combined with immune checkpoint inhibitors in treatment of gastric cancer with ascites.Methods:A retrospective case-control study was conducted. The clinical data of 39 gastric cancer patients with malignant ascites treated in Xi'an Third Hospital from May 2021 to June 2023 were retrospectively analyzed. All patients were divided into the routine group (18 cases) and the observation group (21 cases) according to different treatment methods. The patients in the routine group were treated with hyperthermic intraperitoneal chemotherapy combined with systemic intravenous chemotherapy; the patients in the observation group were treated with immune checkpoint inhibitors on the basis of hyperthermic intraperitoneal chemotherapy combined with systemic intravenous chemotherapy. The clinical efficacy, tumor marker levels, Karnofsky scores, and incidence of adverse reactions of both groups were compared. Kaplan-Meier method was used to analyze the overall survival (OS) of both groups.Results:There were 12 males (66.7%) and 6 females (33.3%) in the routine group, with the age of (57±13) years; 13 males (61.9%) and 8 females (38.1%) in the observation group, with the age of (59±12) years. After treatment, the serum carcinoembryonic antigen (CEA), carbohydrate 125 (CA125), carbohydrate 199 (CA199) levels in the 2 groups were lower than those before treatment, and the differences were statistically significant (all P < 0.05). After treatment, the serum CEA, CA125, CA199 levels in the observation group were lower than those in the routine group, and the differences were statistically significant (all P < 0.05). After treatment, Karnofsky scores in the observation group were higher than those before treatment [(78.6±7.5) scores vs. (69.5±8.9) scores], and Karnofsky scores in the observation group were higher than those in the routine group [(78.6±7.5) scores vs. (72.8±7.9) scores],and the differences were statistically significant ( t = -3.65, 2.33, all P < 0.05). The objective remission rate (ORR) was 55.6% (10/18) and 71.4%(15/21), respectively in the routine group and the observation group, and the difference was statistically significant ( χ2 = 9.24, P = 0.002). The median OS time was 38.97 months (95% CI: 34.99-42.95 months) and 23.62 months (95% CI: 18.49-28.74 months), respectively in the observation group and the routine group, and the difference was statistically significant ( χ2 = 3.88, P = 0.049). There was no statistically significant difference in the incidence of adverse events between the 2 groups (all P > 0.05). No serious treatment-related complications were found in the observation group. Conclusions:Hyperthermic intraperitoneal chemotherapy combined with immune checkpoint inhibitors shows a good therapeutic effect in the treatment of gastric cancer with ascites, and the adverse reactions are controllable.

Objectives:The purpose of this study is to evaluate the impact of the cumulative workload of HUTT testing physicians on diagnostic outcomes. Methods:This study retrospectively and consecutively included the data of testing physicians and patients who underwent HUTT at Fuwai Hospital,Chinese Academy of Medical Sciences,from January 2016 to December 2022.Based on the cumulative workload of physicians during the period from the initiation of tilt tests at the hospital to the end of the study,the physicians were categorized into low (50-100 sases),moderate (100-350 sases),and high (1000-4000 sases) cumulative workload groups,the cumulatie workload of no physician is 351-999 sases.Additionally,physicians were grouped by sex,educational background,and professional title to analyze differences in diagnostic rates of tilt table test reports within and between these groups. Results:The study included 22 testing physicians and 6122 patients.There were statistically significant differences in the rates of positive,suspicious positive,and negative reports among the 22 physicians (P<0.001).The average suspicious positive report rate in the moderate cumulative workload group was significantly higher than in the low and high cumulative workload groups (3.21％ vs.1.09％ vs.1.62％,P=0.001).The suspicious positive report rate was higher in the female physician group compared to the male physician group (2.25％ vs.1.07％,P=0.017),in the undergraduate physician group compared to the postgraduate physician group (2.46％ vs.1.52％,P=0.013),and in the junior title group compared to the intermediate and senior title groups (3.40％ vs.1.75％ vs.2.53％,P=0.024).Multivariate logistic regression analysis showed that a moderate cumulative workload was an influencing factor for suspicious positive reports,regardless of whether negative or positive was used as the reference (all P<0.05). Conclusions:There are certain differences in the diagnostic report rates of HUTT among different individual physicians.Physicians with a moderate cumulative workload are more likely to issue suspicious positive HUTT diagnostic reports.

Metabotropic glutamate receptor 5 (mGluR5) encephalitis is a rare type of anti-cell surface antigen antibody encephalitis mediated by autoimmune mechanisms. This article reported a case of anti-mGluR5 encephalitis. The patient was a 25-year-old young man with a history of Hodgkin′s lymphoma. Due to tumor recurrence, he developed encephalitis symptoms including fever, headache, mental and behavioral abnormalities, memory loss, consciousness disturbance, and seizures after checkpoint immunosuppressive therapy. He was finally diagnosed as anti-mGluR5 encephalitis by positive serum anti-mGluR5 antibodies. Finally, the symptoms alleviated after treatment with hormones and gamma globulin.

Objective:To analyze the clinical characteristics and prognosis of patients with stiff-person syndrome (SPS) associated with glutamic acid decarboxylase (GAD) antibodies.Methods:A retrospective analysis was conducted on demographic characteristics, clinical manifestations, auxiliary examination results, treatment, and prognosis of patients with GAD antibody-related SPS treated at Peking Union Medical College Hospital from January 2015 to July 2023.Results:A total of 33 patients were included, comprising 26 females (78.8%) and 7 males (21.2%), with an onset age of (42±12) years and a disease duration of 24.0 (10.5, 37.5) months. Two cases (6.1%) were diagnosed with tumors, including 1 case with invasive thymoma and 1 case with small cell lung cancer. The majority of patients (87.9%, 29/33) presented with stiffness of trunk and proximal limb muscles, 42.4% (14/33) of patients exhibited episodic spasm, and 54.5% (18/33) of patients were triggered by stimuli such as sound and light. Babinski or Chaddock reflexes were elicited in 33.3% (11/33) of patients. Some patients (36.4%, 16/33) had concurrent limbic encephalitis/epilepsy or cerebellar ataxia (referred to as complex SPS). The median cerebrospinal fluid (CSF) white blood cell count was 2×10 6/L [quartile: 1×10 6/L, 6×10 6/L; range: (0-30)×10 6/L], with mild elevation in 28.0% (7/25) of patients. Multi-channel surface electromyography in 14 out of 21 cases (66.7%) suggested synchronous contraction of agonist and antagonist muscles in a relaxed state. The modified Rankin Scale (mRS) score during the acute phase was 4 (3, 4). All patients received treatment with benzodiazepines or baclofen. Thirty patients (90.9%, 30/33) received first-line immunotherapy, 3 patients (9.1%, 3/33) received second-line immunotherapy with rituximab, and 14 (42.4%, 14/33) received mycophenolate mofetil as long-term immunotherapy. The follow-up period was 16 (10, 42) months, with a median best mRS score of 2; 66.7% (22/33) of patients had a favorable functional prognosis (mRS score≤2), and the recurrence rate was 30.0% (9/30). At the last follow-up, the median mRS score was 2, and 53.3% (16/30) of patients had a favorable functional prognosis. Prognosis was not significantly correlated with gender, age, clinical type, or CSF white blood cell level (all P>0.05). Conclusions:SPS is one of the main clinical phenotypes of GAD antibody-related neuroimmune diseases, commonly observed in middle-aged women, and exhibits a chronic progressive course. Only a minority of patients have concomitant tumors. The diagnosis relies on typical symptoms, GAD antibody testing, and electromyography examination. The initial immune therapy yields good results, but the prognosis for recurrent patients is poor.

A case of idiopathic hypertrophic spinal pachymeningitis is reported. The patient was a middle-aged female, with the course of disease more than 1 year. Clinical manifestations included recurrent fever,headache and backache, and the magnetic resonance imaging showed diffuse enhancement and thickening of the spinal dura mater. Dural biopsy pathology finally confirmed hypertrophic spinal pachymeningitis. After treatment with surgery and immunotherapy, the patient′s clinical symptoms improved.

Objective To perform structural analysis on the homogeneous polysaccharide SP800301 isolated from Saposhnikoviae Radix to determine its chemical structure.Methods Polysaccharides were separated and purified from Saposhnikoviae Radix using column chromatography,such as DEAE-cellulose and Sephadex G-75.The molecular weight distribution,monosaccharide composition,oligosaccharide fragments,sugar residue types,and glycosidic bond connection of the isolated homogeneous polysaccharide SP800301 from Saposhnikoviae Radix were analyzed using electrospray ionization multistage mass spectrometry,gas chromatography-mass spectrometry,and nuclear magnetic resonance to determine its structure.The appearance characteristics of the Saposhnikoviae Radix polysaccharide were characterized using electron and atomic force microscopy.Results Polysaccharide SP800301 extracted from Saposhnikoviae Radix had good homogeneity with a molecular weight of 9.1×104 g/mol.The uronic acid content was 52.72%.The monosaccharide group comprised rhamnose,galacturonic acid,glucose,galactose,and arabinose,with a molar ratio of 4.3:58.1:25.4:5.0:7.3.The polysaccharide was mainly composed of polygalacturonic acid as the primary chain.The branched chain was comprised of rhamnose,galacturonic acid,galactose,glucose,and arabinose,with arabinose at the end of the branched chain and part of the galacturonic acid in the sugar chain forming a methyl ester.Conclusion This study clarified the chemical structure of the homogeneous polysaccharide SP800301 from Saposhnikoviae Radix,enriched the chemical composition of Saposhnikoviae Radix polysaccharides,laid the foundation for further research on the immune regulatory mechanism of Saposhnikoviae Radix polysaccharides,and provided a scientific basis for clinically using Saposhnikoviae Radix.

Objective:To explore the application value of quantitative flow ratio (QFR) in the hemodynamic evaluation of myocardial bridge and to preliminarily evaluate the correlation and related influencing factors between deformation quantitative flow ratio (D-QFR) and QFR.Methods:This is a cross-sectional study. Patients with CAG-confirmed simple myocardial bridge of the middle anterior descending coronary artery from June 2012 to June 2022 at the Air Force Medical Center were retrospectively included in this study. Systolic stenosis of mural coronary arteries (MCA) and myocardial bridge length were measured using quantitative coronary angiography. The patients were divided into mild stenosis group (<50% systolic stenosis) and moderate-to-severe stenosis group (≥50% systolic stenosis) according to the Nobel grading criteria. At different time periods (systolic and diastolic), the QFR values were measured at 3 locations (1 to 2 cm before the MCA entrance, the middle segment of the MCA, and 1 to 2 cm after the MCA exit), denoted as QFRa, QFRb, and QFRc, respectively, and the D-QFR values, incorporating vessel deformation information, were recorded. The MCA distal QFR≤0.8 in either stage was defined as an abnormal QFR value. QFR values were compared between the two groups at different locations and within each group. Factors associated with abnormal QFR values were analysed using multifactorial logistic regression. Spearman rank correlation analysis was used to examine the correlation between D-QFR values and systolic and diastolic QFR values.Multiple linear regression was used to analyse the factors associated with D-QFR.Results:A total of 83 patients were enrolled, including 58 males, aged (57.1±13.1) years. There were 48 cases in the mild stenosis group and 35 cases in the moderate-to-severe stenosis group, and the differences in systolic and diastolic QFRb and QFRc values between the two groups were statistically significant (all P<0.05). Within-group comparisons showed the values of QFRb and QFRc in the systolic phase were lower than those in the diastolic phase; QFRb and QFRc were both lower than QFRa during the same period (all P<0.05). Multifactorial logistic regression analysis showed that MCA systolic stenosis ( OR=1.225, 95% CI 1.093-1.372, P<0.001) was an influential factor for abnormal QFR. D-QFR values were positively correlated with both systolic and diastolic QFR values (correlation coefficients were 0.849 and 0.675, respectively, both P<0.01). Multiple linear regression analysis showed that D-QFR values were negatively correlated with age ( β=-0.208, P=0.029), systolic stenosis ( β=-0.500, P<0.001), and myocardial bridge length ( β=-0.211, P=0.036). Conclusions:The QFR values in middle and distal of myocardial bridge decrease. The systolic stenosis rate of myocardial bridge is an important factor affecting QFR value. D-QFR is positively correlated with both systolic and diastolic QFR values. Age, myocardial bridge systolic stenosis rate and length are factors influencing the D-QFR values.

Objective To investigate the role of JAK1/STAT3/KHSRP axis in mediating the regulatory effect of LINC00626 on progression of esophagogastric junction adenocarcinoma.Methods We collected surgical tumor and adjacent tissue specimens from 64 patients with esophagogastric junction adenocarcinoma and examined the expression levels of LINC00626 and KHSRP.qRT-PCR was used to detect the expressions of LINC00626 and KHSRP in 6 esophageal adenocarcinoma cell lines(OE-19,TE-7,Bic-1,Flo-1,SK-GT-4,and BE-3)and a normal esophageal epithelial cell line(HET-1A).OE-19 and TE-7 cell lines with stable LINC00626 knockdown and FLO-1 and SK-GT-4 cells stably overexpressing LINC00626 were constructed by lentiviral transfection,and the changes in proliferation,migration and invasion of the cells were evaluated using Cell Counting Kit-8(CCK-8)assay and Transwell migration/invasion assay.The expressions of KHSRP and JAK/STAT pathway proteins in the transfected cells were detected with Western blotting.The effects of LINC006266 knockdown and overexpression on subcutaneous tumor formation and lung metastasis of OE-19 and FLO-1 cell xenografts were tested in nude mice.Results The expression levels of LINC00626 and KHSRP were significantly increased in esophagogastric junction adenocarcinoma tissues and in esophageal adenocarcinoma cells.LINC00626 knockdown obviously inhibited the proliferation,migration and invasion of esophageal adenocarcinoma cells in vitro and decreased their tumor formation and lung metastasis abilities in nude mice,while overexpression of LINC00626 produced the opposite effects.In esophageal adenocarcinoma cells,LINC0626 knockdown significantly decreased and LINC00626 overexpression strongly enhanced the phosphorylation of JAK1 and STAT3.Conclusion High LINC00626 expression promotes esophageal-gastric junction adenocarcinoma metastasis by activating the JAK1/STAT3/KHSRP signal axis.

Objective To investigate the role of JAK1/STAT3/KHSRP axis in mediating the regulatory effect of LINC00626 on progression of esophagogastric junction adenocarcinoma.Methods We collected surgical tumor and adjacent tissue specimens from 64 patients with esophagogastric junction adenocarcinoma and examined the expression levels of LINC00626 and KHSRP.qRT-PCR was used to detect the expressions of LINC00626 and KHSRP in 6 esophageal adenocarcinoma cell lines(OE-19,TE-7,Bic-1,Flo-1,SK-GT-4,and BE-3)and a normal esophageal epithelial cell line(HET-1A).OE-19 and TE-7 cell lines with stable LINC00626 knockdown and FLO-1 and SK-GT-4 cells stably overexpressing LINC00626 were constructed by lentiviral transfection,and the changes in proliferation,migration and invasion of the cells were evaluated using Cell Counting Kit-8(CCK-8)assay and Transwell migration/invasion assay.The expressions of KHSRP and JAK/STAT pathway proteins in the transfected cells were detected with Western blotting.The effects of LINC006266 knockdown and overexpression on subcutaneous tumor formation and lung metastasis of OE-19 and FLO-1 cell xenografts were tested in nude mice.Results The expression levels of LINC00626 and KHSRP were significantly increased in esophagogastric junction adenocarcinoma tissues and in esophageal adenocarcinoma cells.LINC00626 knockdown obviously inhibited the proliferation,migration and invasion of esophageal adenocarcinoma cells in vitro and decreased their tumor formation and lung metastasis abilities in nude mice,while overexpression of LINC00626 produced the opposite effects.In esophageal adenocarcinoma cells,LINC0626 knockdown significantly decreased and LINC00626 overexpression strongly enhanced the phosphorylation of JAK1 and STAT3.Conclusion High LINC00626 expression promotes esophageal-gastric junction adenocarcinoma metastasis by activating the JAK1/STAT3/KHSRP signal axis.