1.A Case of Multidisciplinary Treatment for Kimura′s Disease
Shuning GUO ; Jiaxin ZHOU ; Zhaohui LU ; Yu CHEN ; Yang GUI ; Rongrong HU ; Xiaoxiao GUO ; Yuxiang ZHI ; Fuquan ZHANG ; Yan ZHANG ; Wen ZHANG
JOURNAL OF RARE DISEASES 2026;5(3):309-317
This article reports a 14-year-old boy who presented with "a nearly 7-year history of a right upper arm mass and a more than 1-year history of cervical lymphadenopathy". His main clinical manifestations included a subcutaneous mass in the right upper arm, bilateral eyelid and submandibular masses, and multiple enlarged cervical lymph nodes, accompanied by persistent peripheral blood eosinophilia. Biopsies of the right upper arm lesion and a left submandibular lymph node showed lymphoid hyperplasia with prominent eosinophilic infiltration, vascular and fibrous tissue proliferation, and eosinophilic microabscess formation in the left submandibular lymph node, confirming the diagnosis of Kimura′s disease. The lesions regressed markedly after glucocorticoid therapy but recurred after treatment discontinuation. Because the patient and his family were concerned about long-term glucocorticoid therapy, mepolizumab was subsequently administered. Peripheral eosinophil counts normalized, whereas the local tissue lesions showed limited improvement. A multidisciplinary team comprehensively evaluated the diagnosis, the need for repeat biopsy of atypical lymph nodes on imaging, the possible association between the cardiac valve abnormalities and the underlying disease, and subsequent treatment options. The patient is currently receiving methotrexate with folic acid supplementation and remains under regular follow-up. This case indicates that the diagnosis of Kimura′s disease relies on clinical manifestations and histopathological findings. Once diagnosed, comprehensive evaluation, individualized treatment, and long-term management should be implemented.
2.Analysis of novel mutations in the insulin receptor gene of a family with type A insulin resistance syndrome
Yijun LI ; Guoqing YANG ; Li ZANG ; Yu PEI ; Kang CHEN ; Jin DU ; Zhaohui LYU
Chinese Journal of Internal Medicine 2025;64(3):239-243
This study aimed to identify mutations in the human insulin receptor gene (INSR) and investigate their role in the pathogenesis of severe insulin resistance syndrome. Sanger sequencing of the INSR gene was performed on a patient clinically suspected of having type A insulin resistance syndrome admitted to the Department of Endocrinology, the First Medical Center of Chinese PLA General Hospital. Upon identifying mutations, relevant exons were sequenced in her first-degree relatives. Additionally, control groups consisting of individuals with type 2 diabetes and those with normal glucose tolerance were screened for the mutation detected in the patient. Functional predictions of the INSR protein were made using MutationTaster, SIFT, and PolyPhen2 software. A previously unreported heterozygous missense mutation, c.3652G/A (Asp1218Asn), in exon 20 was identified in both the proband and her father. This mutation was not present in any of the control individuals. Multiple prediction tools indicate that this mutation likely disrupts gene/protein structure or function. The c.3652G/A (Asp1218Asn) heterozygous mutation in INSR is a novel variant that plays a significant role in the pathogenesis of severe insulin resistance in this Chinese family.
3.Multi-system involvement characteristics and influencing factors of disease progression in Kennedy′s disease
Yifan LI ; Fei YANG ; Hongfen WANG ; Zhaohui CHEN ; Li LING ; Hongmei CHENG ; Xusheng HUANG ; Mao LI
Chinese Journal of Internal Medicine 2025;64(9):845-853
Objective:To investigate multi-system involvement in Kennedy′s disease and its association with disease progression.Methods:We retrospectively reviewed the clinical, laboratory, and electrophysiological data from 48 genetically confirmed patients with Kennedy′s disease at the Department of Neurology, First Medical Center of the Chinese PLA General Hospital, between February 2016 and February 2024. The disease progression rate was calculated based on the functional scores at baseline and follow-up. Correlation analyses and multiple linear regression models were employed to assess the relationships among clinical variables and to identify potential predictors of disease progression.Results:The age of muscle weakness onset ranged from 16 to 66 years (mean 42±11 years), with a diagnostic delay of 5.0 (3.0, 9.8) years. Lower limb weakness was the most common initial symptom in 72.9% (35/48) of patients, and 37.5% (18/48) exhibited non-motor manifestations prior to the onset of weakness. Core motor manifestations included bulbar weakness (89.6%, 43/48) and symmetric proximal limb weakness (83.3%, 40/48), frequently accompanied by gynecomastia (74.2%, 23/31) and sexual dysfunction (64.6%, 31/48). The median CAG repeat length was 43 (42, 46), which showed a significant negative correlation with the age at onset ( r=-0.406, P=0.004). Patients with CAG repeats > 43 had a higher prevalence of sexual dysfunction. Elevated serum muscle enzymes were observed in 97.9% (47/48), and abnormal sex hormone levels were detected in 81.2% (39/48). Sensory neuropathy was present in 68.1% (32/47), with CAG repeat length inversely correlating with compound muscle action potential (CMAP) amplitudes in the median ( β=-0.29; t=-2.27, P=0.029) and ulnar ( β=-0.22; t=-2.23, P=0.031) nerves. Low-frequency repetitive nerve stimulation (RNS) revealed a decrement in 43.3% (13/30) of patients, most commonly affecting the axillary and spinal accessory nerves. The disease progression rate was 1.3±0.3 (range: 0.5-2.0). Furthermore, serum creatine kinase-MB (CK-MB) levels were negatively correlated with disease progression rate ( r=-0.303, P=0.036). Conclusions:Kennedy′s disease presents with diverse initial manifestations and frequent multi-system involvement. Non-motor manifestations may precede muscle weakness, serving as valuable clues for early diagnosis. Widespread sex hormone abnormalities (particularly testosterone/luteinizing hormone dysregulation) support the role of androgen insensitivity in disease pathogenesis. Sensory neuropathies are frequent and not length-dependent. The presence of decremental responses on low-frequency RNS suggests neuromuscular junction dysfunction, which may underlie motor impairment in patients with Kennedy′s disease. Finally, serum CK-MB may serve as a potential biomarker for disease progression.
4.A comparative study of ultra-high-resolution CT and multi-slice spiral CT showing the key sound transmission structures of the middle ear
Yufei SUN ; Ruowei TANG ; Heyu DING ; Ning XU ; Zhaohui ZHONG ; Zhenghan YANG ; Zhenchang WANG ; Pengfei ZHAO
Chinese Archives of Otolaryngology-Head and Neck Surgery 2025;32(4):225-228,233
OBJECTIVE To compare the ability of ultra-high-resolution CT(U-HRCT)and multi-slice spiral CT(MSCT)to display key vocal transmission structures in the middle ear.METHODS Subjects with normal middle ear structures who underwent 0.1 mm layer thickness U-HRCT and 0.625 mm layer thickness MSCT scans at the same time in Beijing Friendship Hospital affiliated to Capital Medical University from December 2019 to August 2024 were retrospectively enrolled.Two experienced head and neck radiologists reconstruct standard transsectional,coronal images based on the thinnest layer thickness.According to the 5-point method,16 key sound transmission structures of the middle ear,including malleus,incus and stapes,as well as joints,ligaments and tendons,were evaluated for image quality scoring.The standard deviation(SD)value,signal noise ratio(SNR),and contrast noise ratio(CNR)of bone in the malleus region and intratympanic gas were measured and calculated on the two examination images.RESULTS Thirty patients(47 sides)with normal middle ear structure were included,including 18 males and 12 females.The two physicians compared the results of U-HRCT in showing malleus head,malleus neck,malleus handle,incus body,long process,and short process,5 points accounted for 100%,and the 5-point scores of incudomalleolar joint space,incudostapedial joint space,stapes footplate and annular ligament were 100%,98.29%,75.83%and 77.83%,respectively,which were significantly higher than those of MSCT(P<0.001).In addition,U-HRCT showed higher scores for lenticular process,stapes head,anterior arch of stapes,posterior arch of stapes,annular ligament,stapes muscle,and tendo musculi tensoris tympani than MSCT(P<0.001),and the lenticular process showed a 100%display rate.There was no significant difference in the SNR between the two groups(P>0.05),but the SD value of the malleus in U-HRCT was 161.6±36.4,which was significantly lower than that in MSCT(297.8±128.1),and the difference was statistically significant(P<0.001).CONCLUSION U-HRCT can clearly visualize the key sound transmission structures of the middle ear,and its visualization ability is significantly better than that of MSCT.
5.Metabolic reprogramming drives radiotherapy resistance in glioblastoma and strategies for targeted therapy
Zhaohui JIN ; Liang LIU ; Chunfa QIAN ; Kun YANG ; Mengjie ZHAO
Chinese Journal of Radiation Oncology 2025;34(8):839-846
Glioblastoma (GBM) is the most aggressive malignant tumor of the adult central nervous system, with limited treatment options and poor prognosis. Radiotherapy (RT) remains a cornerstone of GBM treatment; however, tumor cell resistance to RT severely limits its efficacy. Recently, metabolic reprogramming (MR) has gained widespread attention as a critical mechanism enabling GBM cells to evade RT‐induced stress. In this review, the central roles of glucose, lipid, and amino acid metabolic reprogramming in GBM's resistance to RT were outlined, highlighting how GBM remodels metabolic pathways to enhance DNA damage repair, antioxidant defenses, and immune evasion after RT. Although combining metabolic inhibitors with RT has shown potential in improving GBM treatment outcomes, challenges such as overcoming the blood‐brain barrier and addressing tumor heterogeneity remain. The integration of nanomedicine‐based delivery systems and immunotherapy offers new hope for GBM treatment. Future research should focus on developing multidimensional, personalized metabolic targeting strategies, combined with immunotherapy and emerging technologies, to further improve therapeutic outcomes and survival rates for GBM patients.
6.Expert consensus on clinical treatment of acute radiation syndrome from external irradiation
Li LIANG ; Long YUAN ; Changlin YU ; Qingjie LIU ; Yulong LIU ; Wenfeng YANG ; Jin WANG ; Weixu HUANG ; Ying LIU ; Cuiping LEI ; Huifang CHEN ; Ximing FU ; Baoshan CAO ; Mopei WANG ; Zhaohui ZHANG ; Yu XIAO ; Yamei CHEN ; Quanfu SUN
Chinese Journal of Radiological Medicine and Protection 2025;45(9):827-839
China emerges as a major country in nuclear energy development and the application of nuclear and radiologic technology. The diagnosis and treatment of acute radiation syndrom (ARS) caused by external irradiation represent a core function in the country′s medical rescue of nuclear and radiological emergencies. Clinically, ARS manifests hematopoietic, gastrointestinal, cutaneous, and central nervous system syndromes, with specific clinical manifestations, signs, severity, and prognosis strongly correlated with radiation dose. China has established a number of national and provincial centers for treating radiation-induced damage. Nevertheless, most medical staff have limited experience in ARS treatment. This consensus presents a summary of recent experience in treating ARS of China. In combination with recommendations from international organizations such as the World Health Organization (WHO), this consensus proposes key evidence of critical clinical issues of ARS, covering all links in the rescue of external irradiation-induced ARS. Initially, clinical diagnosis, syndromes, and severe degrees should be determined based on clinical symptoms and dose estimates. It is necessary to normalize clinical treatment measures for hematopoietic recovery, gastrointestinal injury treatment, infection control, symptomatic treatment, and multi-organ function preservation. To this end, this consensus offers cautions. This consensus provides principles of treatment with traditional Chinese medicine, psychological intervention, and follow-up. Additionally, it highlights multidisciplinary collaboration. It is recommended that this consensus be applied in relevant treatment centers.
7.Study on vestibular Schwannoma-derived exosomes inducing ferroptosis in HEI-OC1 cells
Maimaitiming DILIHUMAER ; Yuewen GAO ; Zhaohui WANG ; Zirong HUO ; Tao YANG ; Zhihua ZHANG
Journal of Audiology and Speech Pathology 2025;33(6):569-574
Objective To investigate the damage mechanism of extracellular vesicles(EVs)derived from ves-tibular schwannoma(VS)on HEI-OC1 cells and the protective effect of the ferroptosis inhibitor ferrostatin-1(Fer-1).Methods Tumor tissues and clinical data were collected from four patients with stage Ⅱ or Ⅲ VS,classified as grade D according to the AAO-HNS hearing classification.Primary VS cells were extracted,and their conditioned supernatant was collected.EVs were isolated using ultracentrifugation and identified.HEI-OC1 cells were cultured in vitro and divided into three groups:the control group(no treatment),the EVs group(treated with 3000 parti-cles/cell VS-EVs for 24 hours),and the EVs+Fer-1 group(pretreated with 20 μmol/L Fer-1 for 2 hours followed by co-culture with 3000 particles/cell VS-EVs for 24 hours).Cell viability was assessed using the CCK-8 assay,re-active oxygen species(ROS)levels were quantified using the DCFH-DA fluorescent probe,and lipid peroxidation was evaluated using the BODIPY 581/591 C11 probe.Results Compared with the control group,the EVs group showed significantly reduced cell viability(P<0.001)and increased levels of ROS(P<0.001)and lipid peroxides(P<0.001).However,the EVs+Fer-1 group exhibited significantly restored cell viability(P<0.001)and re-duced levels of ROS and lipid peroxidation(P<0.001).Conclusion VS-derived EVs disrupts redox homeostasis,promotes intracellular accumulation of lipid peroxides and ROS,and induces ferroptosis in HEI-OC1 cells.Fer-1 significantly alleviates VS-EVs-induced ferroptosis,thereby protecting HEI-OC1 cells from damage.
8.New advances in robot-assisted surgery for hiatal hernia repair: technological innovations and clinical prospects
Xiaoyang SHI ; Shen YANG ; Jie CHEN ; Zhaohui ZHONG
Chinese Journal of General Surgery 2025;40(9):683-685
This article explores the technological innovations and clinical prospects of robot-assisted hiatal hernia repair (RAHHR). RAHHR demonstrates outstanding performance in hiatal hernia repair, particularly for complex hernias, owing to its advantages such as 3D visualization and 7-degree-of-freedom robotic arms, which contribute to reduced recurrence rates and accelerated recovery. However, challenges remain, including high costs and limited operative space. Future directions include the development of single-port robotic systems, force feedback technology, and AI-powered surgical navigation. Standardized training and technological innovations are expected to promote its widespread application.
9.Metabolic reprogramming drives radiotherapy resistance in glioblastoma and strategies for targeted therapy
Zhaohui JIN ; Liang LIU ; Chunfa QIAN ; Kun YANG ; Mengjie ZHAO
Chinese Journal of Radiation Oncology 2025;34(8):839-846
Glioblastoma (GBM) is the most aggressive malignant tumor of the adult central nervous system, with limited treatment options and poor prognosis. Radiotherapy (RT) remains a cornerstone of GBM treatment; however, tumor cell resistance to RT severely limits its efficacy. Recently, metabolic reprogramming (MR) has gained widespread attention as a critical mechanism enabling GBM cells to evade RT‐induced stress. In this review, the central roles of glucose, lipid, and amino acid metabolic reprogramming in GBM's resistance to RT were outlined, highlighting how GBM remodels metabolic pathways to enhance DNA damage repair, antioxidant defenses, and immune evasion after RT. Although combining metabolic inhibitors with RT has shown potential in improving GBM treatment outcomes, challenges such as overcoming the blood‐brain barrier and addressing tumor heterogeneity remain. The integration of nanomedicine‐based delivery systems and immunotherapy offers new hope for GBM treatment. Future research should focus on developing multidimensional, personalized metabolic targeting strategies, combined with immunotherapy and emerging technologies, to further improve therapeutic outcomes and survival rates for GBM patients.
10.Survival Analysis of Three Malignant Tumors with the Highest Risk of Death in Jiashan County,Zhejiang Province from 2006 to 2020
Lingling YU ; Xinglin FEI ; Jinhua YANG ; Feiqiong SHEN ; Zepeng ZHANG ; Zhaohui ZHANG
China Cancer 2025;34(1):26-31
[Purpose]To analyze the survival of lung cancer,liver cancer and stomach cancer in Jiashan County,Zhejiang Province from 2006 to 2020.[Methods]From January 1,2006 to De-cember 31,2020,new cases of lung cancer,liver cancer and stomach cancer were collected in Jiashan County,Zhejiang Province.The 5-year observed survival rate(OSR),relative survival rate(RSR)and age-standardized relative survival rate(ARSR)by sex and age were calculated from 2006-2010,2011-2015 and 2016-2020.The observed and relative survivals were calculated using the lifetime table and Ederer Ⅱ methods,respectively,and age standardized using the Inter-national Cancer Survival Standard.Joinpoint software was utilized to compute the average annual percentage change(AAPC)for analyzing trends in various survival rates from 2006 to 2020.[Re-sults]The 5-year RSR of lung cancer,liver cancer and stomach cancer increased from 8.1%,4.8%and 23.2%(2006-2010)to 36.0%,17.6%and 48.2%(2016-2020),showing an increasing trend(AAPC=14.4%,AAPC=11.4%,AAPC=6.4%,respectively,all P<0.05).Accordingly,the 5-year RSR of three types of malignant tumors showed an increasing trend in both men and women(all P<0.05)except liver cancer in women(P>0.05).The 5-year RSR of three types of malignant tu-mors in the age groups of 0~64 and 65+years old showed a significant increasing trend(all P<0.05).The increase of lung cancer and liver cancer was greater in the age group of 0~64 years old,and the increase of gastric cancer was greater in the age group of 65+years old.[Conclusion]The 5-year survival rates of the three types of malignant tumors with the highest mortality risk in Jiashan County,Zhejiang Province all increased significantly from 2006 to 2020,indicating that the pre-vention and treatment effect of malignant tumors is significant,but the survival rate of malignant tumors varied significantly among different populations,so targeted intervention should be carried out.

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