1.Advancements in the research of the structure, function, and disease-related roles of ARMC5.
Yang QU ; Fan YANG ; Yafang DENG ; Haitao LI ; Yidong ZHOU ; Xuebin ZHANG
Frontiers of Medicine 2025;19(2):185-199
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
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Neoplasms/genetics*
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Armadillo Domain Proteins/genetics*
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Animals
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Genetic Predisposition to Disease
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Cytoskeletal Proteins/genetics*
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Tumor Suppressor Proteins/genetics*
2.Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability
Wanhong YIN ; Xiaoting WANG ; Ran ZHOU ; Dawei LIU ; Yan KANG ; Yaoqing TANG ; Xiaochun MA ; Jianguo LI ; Zhenjie HU ; Haitao ZHANG ; Wei HE ; Lixia LIU ; Wenjin CHEN ; Ran ZHU ; Jun WU ; Hongmin ZHANG ; Lina ZHANG ; Wenzhao CHAI ; Shihong ZHU ; Wangbin XU ; Rongqing SUN ; Xiangyou YU ; Tianjiao SONG ; Ying ZHU ; Hong REN ; Ai SHANMU ; Qing ZHANG ; Wei FANG ; Xiuling SHANG ; Liwen LYU ; Shuhan CAI ; Xin DING ; Heng ZHANG ; Guang FENG ; Lipeng ZHANG ; Bo HU ; Dong ZHANG ; Weidong WU ; Feng SHEN ; Xiaojun YANG ; Zhenguo ZENG ; Qibing HUANG ; Xueying ZENG ; Tongjuan ZOU ; Milin PENG ; Yulong YAO ; Mingming CHEN ; Hui LIAN ; Jingmei WANG ; Yong LI ; Feng QU ; Gang YE ; Rongli YANG ; Xiukai CHEN ; Suwei LI ; Juxiang WANG ; Yangong CHAO
Chinese Journal of Internal Medicine 2025;64(2):101-109
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.
3.Ultrasound vascular classification at C6 transverse process region for ultrasound-guided cervical sympathetic block
Haitao QU ; Hongyu CHEN ; Hui YAO ; Jingjing LI ; Feng ZHU
Chinese Journal of Interventional Imaging and Therapy 2025;22(9):561-565
Objective To observe the application value of ultrasound classification of blood vessels at C6 transverse process region during ultrasound-guided cervical sympathetic block(CSB).Methods A total of 42 pain patients were retrospectively enrolled.According to vascular distribution morphology and variation,as well as the minimum vertical distance from carotid artery to C6 transverse process shown by ultrasound,blood vessels at C6 transverse process region was classified into type Ⅰ(standard type),Ⅱ(short arterial spacing type),Ⅲ(puncture path obstruction type)and Ⅳ(vascular variation type in blockade zone).CSB needle insertion strategy was adjusted according to the results of ultrasound classification.The needle tip directly reached the puncture target for type Ⅰ,"fluid push method"was used for type Ⅱ and type Ⅲ,while the needle tip needed to be guided to reach the area between carotid sheath and variant blood vessels in the puncture target area for type Ⅳ.The effectiveness and safety of this method were observed.Results Among 42 cases,type Ⅰ was observed in 18 cases(18/42,42.86%),type Ⅱ was noticed in 3 cases(3/42,7.14%),and type Ⅲ and Ⅳ was detected in 9(9/42,21.43%)and 12(12/42,28.57%)cases,respectively.CSB was successfully performed in all 42 cases,Horner syndrome was successfully induced and relieved spontaneously within 1-2 h.No adverse reactions such as local hematoma,pneumothorax,nor local pain was observed.Conclusion Ultrasound classification of blood vessels at C6 transverse process region during CSB was effective and safe,having certain promotion value.
4.Mediating effect of facial emotion recognition ability in patients with schizophrenia between neurocognition and social functioning
Haitao CHEN ; Wei QU ; Jiaqi SONG ; Meng ZHANG ; Hongzhen FAN ; Shuping TAN
Chinese Mental Health Journal 2025;39(2):101-106
Objective:To explore the mechanism of how neurocognition affects social functioning through fa-cial emotion recognition in individuals with schizophrenia.Methods:Totally 203 patients with schizophrenia meet-ing the Diagnostic and Statistical Manual of Mental Disorders,Fourth Edition(DSM-IV)diagnostic criteria were re-cruited,with an age of(40±12)years,an initial onset age of(24±8)years,scored(60.4±16.1)points on the Positive and Negative Syndrome Scale.Using the Personal and Social Performance Scale(PSP),the MATRICS Consensus Cognitive Battery(MCCB),and the Facial Emotion Recognition Test(FERT)to assess patients'social functioning,neurocognition,and facial emotion recognition abilities.Results:In the relationship between MCCB fac-tor scores and PSP dimensions scores,happy face recognition showed a mediating effect in socially useful activities dimension(ACME=0.021,P<0.01),sad(ACME=-0.026,P<0.05)and surprised face recognition(ACME=-0.017,P<0.05)showed mediating effects in self-care dimension.Additionally,sad(ACME=-0.025,P<0.05)and fearful face recognition(ACME=-0.025,P<0.001)played a mediating role in disruptive and aggres-sive behavior dimensions.Conclusion:Facial emotion recognition in patients with schizophrenia may play a media-ting role in the neurocognitive mechanisms of social dysfunction,with different dimensions of social dysfunction be-ing associated with specific categories of emotions.
5.Mediating effect of facial emotion recognition ability in patients with schizophrenia between neurocognition and social functioning
Haitao CHEN ; Wei QU ; Jiaqi SONG ; Meng ZHANG ; Hongzhen FAN ; Shuping TAN
Chinese Mental Health Journal 2025;39(2):101-106
Objective:To explore the mechanism of how neurocognition affects social functioning through fa-cial emotion recognition in individuals with schizophrenia.Methods:Totally 203 patients with schizophrenia meet-ing the Diagnostic and Statistical Manual of Mental Disorders,Fourth Edition(DSM-IV)diagnostic criteria were re-cruited,with an age of(40±12)years,an initial onset age of(24±8)years,scored(60.4±16.1)points on the Positive and Negative Syndrome Scale.Using the Personal and Social Performance Scale(PSP),the MATRICS Consensus Cognitive Battery(MCCB),and the Facial Emotion Recognition Test(FERT)to assess patients'social functioning,neurocognition,and facial emotion recognition abilities.Results:In the relationship between MCCB fac-tor scores and PSP dimensions scores,happy face recognition showed a mediating effect in socially useful activities dimension(ACME=0.021,P<0.01),sad(ACME=-0.026,P<0.05)and surprised face recognition(ACME=-0.017,P<0.05)showed mediating effects in self-care dimension.Additionally,sad(ACME=-0.025,P<0.05)and fearful face recognition(ACME=-0.025,P<0.001)played a mediating role in disruptive and aggres-sive behavior dimensions.Conclusion:Facial emotion recognition in patients with schizophrenia may play a media-ting role in the neurocognitive mechanisms of social dysfunction,with different dimensions of social dysfunction be-ing associated with specific categories of emotions.
6.Ultrasound vascular classification at C6 transverse process region for ultrasound-guided cervical sympathetic block
Haitao QU ; Hongyu CHEN ; Hui YAO ; Jingjing LI ; Feng ZHU
Chinese Journal of Interventional Imaging and Therapy 2025;22(9):561-565
Objective To observe the application value of ultrasound classification of blood vessels at C6 transverse process region during ultrasound-guided cervical sympathetic block(CSB).Methods A total of 42 pain patients were retrospectively enrolled.According to vascular distribution morphology and variation,as well as the minimum vertical distance from carotid artery to C6 transverse process shown by ultrasound,blood vessels at C6 transverse process region was classified into type Ⅰ(standard type),Ⅱ(short arterial spacing type),Ⅲ(puncture path obstruction type)and Ⅳ(vascular variation type in blockade zone).CSB needle insertion strategy was adjusted according to the results of ultrasound classification.The needle tip directly reached the puncture target for type Ⅰ,"fluid push method"was used for type Ⅱ and type Ⅲ,while the needle tip needed to be guided to reach the area between carotid sheath and variant blood vessels in the puncture target area for type Ⅳ.The effectiveness and safety of this method were observed.Results Among 42 cases,type Ⅰ was observed in 18 cases(18/42,42.86%),type Ⅱ was noticed in 3 cases(3/42,7.14%),and type Ⅲ and Ⅳ was detected in 9(9/42,21.43%)and 12(12/42,28.57%)cases,respectively.CSB was successfully performed in all 42 cases,Horner syndrome was successfully induced and relieved spontaneously within 1-2 h.No adverse reactions such as local hematoma,pneumothorax,nor local pain was observed.Conclusion Ultrasound classification of blood vessels at C6 transverse process region during CSB was effective and safe,having certain promotion value.
7.Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability
Wanhong YIN ; Xiaoting WANG ; Ran ZHOU ; Dawei LIU ; Yan KANG ; Yaoqing TANG ; Xiaochun MA ; Jianguo LI ; Zhenjie HU ; Haitao ZHANG ; Wei HE ; Lixia LIU ; Wenjin CHEN ; Ran ZHU ; Jun WU ; Hongmin ZHANG ; Lina ZHANG ; Wenzhao CHAI ; Shihong ZHU ; Wangbin XU ; Rongqing SUN ; Xiangyou YU ; Tianjiao SONG ; Ying ZHU ; Hong REN ; Ai SHANMU ; Qing ZHANG ; Wei FANG ; Xiuling SHANG ; Liwen LYU ; Shuhan CAI ; Xin DING ; Heng ZHANG ; Guang FENG ; Lipeng ZHANG ; Bo HU ; Dong ZHANG ; Weidong WU ; Feng SHEN ; Xiaojun YANG ; Zhenguo ZENG ; Qibing HUANG ; Xueying ZENG ; Tongjuan ZOU ; Milin PENG ; Yulong YAO ; Mingming CHEN ; Hui LIAN ; Jingmei WANG ; Yong LI ; Feng QU ; Gang YE ; Rongli YANG ; Xiukai CHEN ; Suwei LI ; Juxiang WANG ; Yangong CHAO
Chinese Journal of Internal Medicine 2025;64(2):101-109
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.
8.Efficacy and safety of 3-dimensional printing noncoplanar template (3D-PNCT)-assisted high-dose-rate interstitial brachytherapy (HDR-ISBT) for reirradiation of recurrent cervical cancer: a prospective cohort
Kaiyue WANG ; Ang QU ; Xiuwen DENG ; Weijuan JIANG ; Haitao SUN ; Junjie WANG ; Ping JIANG
Journal of Gynecologic Oncology 2025;36(2):e20-
Objective:
This study aimed to investigate the efficacy and safety of 3-dimensional printing noncoplanar template (3D-PNCT)-assisted computed tomography (CT)-guided high-doserate interstitial brachytherapy (HDR-ISBT) for reirradiation of pelvic recurrent cervical carcinoma after external beam radiotherapy.
Methods:
From January 2019 to August 2023, 45 eligible patients were enrolled in this prospective cohort. All patients underwent 3D-PNCT-assisted CT-guided HDR-ISBT with a prescribed dose of 4–7 Gy/fraction to the high-risk clinical target volume (HR-CTV) over 3–8 fractions, either for curative or palliative purposes. The primary endpoints were local progression-free survival (LPFS) and tumor response rate (TRR). The secondary outcome measures included overall survival (OS), toxicities, and symptom resolution.
Results:
Forty-five patients received 261 fractions of 3D-PNCT-assisted HDR-ISBT. Twentynine patients had isolated pelvic recurrence, and 16 patients had simultaneous extra-pelvic or distant recurrences. The TRR was 66.7%. The 2- and 5-year LPFS rates were 30.0% and 25.7%, respectively. The median OS was 23.2 months, and 2- and 5-year OS rates were 49.5% and 34.0%, respectively. The multivariate analysis indicated that squamous cell carcinoma, radical surgery, recurrence-free interval≥12 months, tumor diameter, pelvic recurrence type, and HR-CTV D 90 ≥45 Gy were independent factors influencing LPFS (all p<0.05). D 100 ≥21 Gy, V 100 ≥83%, and V50≥45% were associated with better LPFS (all p<0.05). Tumor diameter and metastasis were independent predictive factors for OS (all p<0.05). The pain relief rate was 66.7% (10/15). Grade 3–4 toxicities occurred in 20.0% of patients.
Conclusion
3D-PNCT-assisted HDR-ISBT for reirradiation of recurrent cervical cancer proved to be an effective and safe alternative to radical surgery.
9.Design and evaluation of a novel arcuate multi-channel rectal endoluminal applicator based on pelvic MRI images
Tian CHENG ; Qingjie LIAN ; Ran PENG ; Haitao SUN ; Ang QU ; Hao WANG
Chinese Journal of Radiation Oncology 2024;33(11):1042-1048
Objective:To design and evaluate a novel arcuate multi-channel rectal endoluminal applicator to enhance dose coverage of tumors in the upper and middle rectum and reduce pressure on the rectal wall.Methods:Pelvic MRI images of 200 Chinese cases without rectal lesions in the Peking University Third Hospital from July 2022 to August 2022 were retrospectively analyzed. Based on the image data, a rectal model with general characteristics of the population and two novel hard and soft rectal endoluminal applicators were designed and fabricated. The following properties of the conventional applicators and two new applicators were compared: deformation to the model rectal wall, maximum pressure, stable pressure, D 90%, D 100%, V 100%, V 150% and V 200% of the GTV, and D 2 cm3, D 1 cm3, and D 0.1 cm3 of the organs at risk (OAR). ANOVA or Kruskal-Wallis H-test was used to compare the differences among three applicators, and Dunnett's multiple comparison test was used for pairwise comparisons. Results:The novel hard and soft rectal endoluminal applicators caused less deformation of the model rectal wall. The maximum pressure on the rectal wall was (0.606 ± 0.182) kPa and (0.481 ± 0.229) kPa for the hard arcuate applicator and soft arcuate applicator, respectively, and the stable pressure was (0.207 ± 0.137) kPa and (0.055 ± 0.097) kPa, respectively, which were significantly smaller than those of the conventional applicator ( P <0.001, <0.001; P =0.024, <0.001), and the degree of reduction was at or near 50%. Under the premise of ensuring target dose, the D 2 cm3, D 1 cm3, and D 0.1 cm3 of OAR in the treatment plan designed with the novel applicator were significantly reduced compared to the cylindrical applicator (all P<0.001). Conclusion:The novel arcuate multi-channel rectal endoluminal applicator can significantly reduce rectal wall pressure and deformation, while also reducing the dose to OAR without compromising target dose coverage, offering certain therapeutic advantages.
10.Histogram analysis based on 3D-amide proton transfer weighted and apparent diffusion coefficient imaging in predicting ATRX mutation in IDH-mutant WHO grading 2/3 gliomas
Xia ZOU ; Xinran YAN ; Yuxin LI ; Yaoming QU ; Haitao WEN ; Andong MA ; Shizhong ZHANG ; Zhibo WEN
Chinese Journal of Neuromedicine 2024;23(7):659-668
Objective:To evaluate the role of histogram analysis based on amide proton transfer weighted (APTw) and apparent diffusion coefficient (ADC) imaging in predicting alpha-thalassemia/mental retardation syndrome X-linked ( ATRX) mutation in isocitrate dehydrogenase ( IDH)-mutant WHO grading 2/3 gliomas. Methods:Seventy-eight patients with IDH-mutant WHO grading 2/3 gliomas, admitted to and confirmed by surgical pathology in Department of Functional Neurosurgery, Neurosurgery Center, Zhujiang Hospital, Southern Medical University from June 2017 to October 2023, including 52 with ATRX wild and 26 with ATRX mutant-type, were selected. Preoperative 3D-APTw and ADC imaging data were collected; after post-processing, the lesions were segmented using lesion outlining method based on inclusion of peri-tumor edema and lesion outlining method based on tumor entity, respectively; after that, the histogram features (the 10 th percentile, 90 th percentile, maximum, mean, median, minimum, skewness, kurtosis, entropy, range, uniformity, and variance) were extracted from 3D-APTw and ADC imaging, respectively. Univariate Logistic regression was used to compare the differences in histogram features between patients in the ATRX mutant group and ATRX wild-type group, and multivariate Logistic regression was used to screen the independent predictors for ATRX mutation (a Logistic regression prediction model was constructed). Predictive values of independent predictors and Logistic regression prediction models in ATRX mutation were evaluated by receiver operating characteristic (ROC) curve. Results:(1) With lesion outlining method based on inclusion of peri-tumor edema, univariate analysis indicated significant difference between ATRX mutant group and ATRX wild-type group in 9 histogram features: relative 3D-APTw minimum, 3D-APTw skewness, relative ADC 90 th percentile, relative ADC mean, relative ADC median, ADC kurtosis, ADC skewness, ADC uniformity, and ADC entropy ( P<0.05). With lesion outlining method based on tumor entity, univariate analysis indicated significant difference between ATRX mutant group and ATRX wild-type group in 9 histogram features: relative 3D-APTw 90 th percentile, 3D-APTw skewness, relative ADC 90 th percentile, relative ADC mean, relative ADC median, ADC kurtosis, ADC skewness, ADC uniformity and ADC entropy ( P<0.05). (2) With lesion outlining method based on inclusion of peri-tumor edema, multivariate Logistic regression showed that 3D-APTw skewness and ADC kurtosis were the independent predictor for ATRX mutation in IDH mutant WHO grading 2/3 glioma patients ( OR=0.168, 95% CI: 0.034-0.800, P=0.025; OR=0.508, 95% CI: 0.319-0.807, P=0.004). The constructed Logistic regression prediction model was P(Y=1|X)=1/1+e -(1.827-1.785×3D-APTw skewness-0.678×ADC kurtosis). With lesion outlining method based on tumor entity, multivariate Logistic regression showed that 3D-APTw skewness and ADC kurtosis were independent predictors for ATRX mutation in IDH mutant WHO grading 2/3 glioma patients ( OR=0.164, 95% CI: 0.034-0.791, P=0.024; OR=0.496, 95% CI: 0.312-0.788, P=0.003); the constructed Logistic regression prediction model was P(Y=1|X)=1/1+e -(1.585-1.810×3D-APTw skewness-0.702×ADC kurtosis). (3) ROC curve analysis showed that, with lesion outlining method based on inclusion of peri-tumor edema, area under ROC curve (AUC) of 3D-APTw skewness and ADC kurtosis was 0.725 (95% CI: 0.608-0.842, P=0.001) and 0.794 (95% CI: 0.685-0.904), respectively ( P<0.001); AUC of Logistic regression prediction model was 0.836 (95% CI: 0.729-0.942, P<0.001), and its sensitivity and specificity were 73.10% and 90.40% when the best threshold was 0.505. ROC curve showed that, with lesion outlining method based on tumor entity, AUC of 3D-APTw skewness and ADC kurtosis was 0.705 (95% CI: 0.587-0.823, P=0.003) and 0.808 (95% CI: 0.704-0.913), respectively ( P<0.001); AUC of Logistic regression prediction model was 0.844 (95% CI: 0.739-0.949, P<0.001), and its sensitivity and specificity were 84.60% and 80.80% when the best threshold was 0.399. Conclusion:Histogram analysis based on 3D-APTw and ADC imaging can predict ATRX mutation in IDH mutant WHO grading 2/3 gliomas to a certain extent.

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