1.The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
Jiaxi YU ; Zhihao QUAN ; Yilei ZHENG ; Jing AN ; Jing LIU ; Qingqing WANG ; Lingchao MENG ; Meng YU ; Zhiying XIE ; Jianwen DENG ; He LYU ; Wei ZHANG ; Yun YUAN ; Zhaoxia WANG
JOURNAL OF RARE DISEASES 2026;5(2):164-174
To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes. A total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neurology, Peking University First Hospital between January 2008 and December 2025, were retrospectively included.The general demographic data, clinical manifestations, laboratory/auxiliary examinations, muscle pathology, and genetic test results were systematically collected and analyzed. The clinical and pathological characteristics among different OPDM subtypes were compared. Among the 65 patients(39 male and 26 female), the mean age of onset was (31.20±10.43) years (range: 14 to 63 years). The initial symptom was predominantly distal limb weakness (67.44%), which gradually progressed to involve the extraocular muscles, pharyngeal muscles, facial muscles and proximal limb muscles. Serum creatine kinase levels were mildly to moderately elevated. Muscle pathological examinations revealed rimmed vacuoles and intranuclear inclusions (within muscle fibers). The mean duration from onset to diagnosis was (12.33±7.88) years (range: 1 to 32 years). All probands had negative results on conventional next-generation whole-exome sequencing; pathogenic variants were identified through third-generation long-read sequencing or OPDM-targeted repeat-primed polymerase chain reaction(RP-PCR). Among the 43 families, OPDM2 subtype was the most common genetic subtype ( OPDM2 was the predominant subtype in this study. All subtypes share similar age of onset and muscular pathological changes, yet exhibit distinct disease progression patterns. Future multicenter prospective cohort studies are warranted to further elucidate the clinical characteristics, pathogenetic mechanisms, and prognostic differences among OPDM subtypes.
2.Changing distribution and antimicrobial resistance profiles of clinical isolates in children:results from the CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Qing MENG ; Lintao ZHOU ; Yunsheng CHEN ; Yang YANG ; Fupin HU ; Demei ZHU ; Chuanqing WANG ; Aimin WANG ; Lei ZHU ; Jinhua MENG ; Hong ZHANG ; Chun WANG ; Fang DONG ; Zhiyong LÜ ; Shuping ZHOU ; Yan ZHOU ; Shifu WANG ; Fangfang HU ; Yingchun XU ; Xiaojiang ZHANG ; Zhaoxia ZHANG ; Ping JI ; Wei JIA ; Gang LI ; Kaizhen WEN ; Yirong ZHANG ; Yan JIN ; Chunhong SHAO ; Yong ZHAO ; Ping GONG ; Chao ZHUO ; Danhong SU ; Bin SHAN ; Yan DU ; Sufang GUO ; Jiao FENG ; Ziyong SUN ; Zhongju CHEN ; Wen'en LIU ; Yanming LI ; Xiaobo MA ; Yanping ZHENG ; Dawen GUO ; Jinying ZHAO ; Ruizhong WANG ; Hua FANG ; Lixia ZHANG ; Juan MA ; Jihong LI ; Zhidong HU ; Jin LI ; Yuxing NI ; Jingyong SUN ; Ruyi GUO ; Yan ZHU ; Yi XIE ; Mei KANG ; Yuanhong XU ; Ying HUANG ; Shanmei WANG ; Yafei CHU ; Hua YU ; Xiangning HUANG ; Lianhua WEI ; Fengmei ZOU ; Han SHEN ; Wanqing ZHOU ; Yunzhuo CHU ; Sufei TIAN ; Shunhong XUE ; Hongqin GU ; Xuesong XU ; Chao YAN ; Bixia YU ; Jinju DUAN ; Jianbang KANG ; Jiangshan LIU ; Xuefei HU ; Yunsong YU ; Jie LIN ; Yunjian HU ; Xiaoman AI ; Chunlei YUE ; Jinsong WU ; Yuemei LU
Chinese Journal of Infection and Chemotherapy 2025;25(1):48-58
Objective To understand the changing composition and antibiotic resistance of bacterial species in the clinical isolates from outpatient and emergency department(hereinafter referred to as outpatients)and inpatient children over time in various hospitals,and to provide laboratory evidence for rational antibiotic use.Methods The data on clinically isolated pathogenic bacteria and antimicrobial susceptibility of isolates from outpatients and inpatient children in the CHINET program from 2015 to 2021 were collected and analyzed.Results A total of 278 471 isolates were isolated from pediatric patients in the CHINET program from 2015 to 2021.About 17.1%of the strains were isolated from outpatients,primarily group A β-hemolytic Streptococcus,Escherichia coli,and Staphylococcus aureus.Most of the strains(82.9%)were isolated from inpatients,mainly SS.aureus,E.coli,and H.influenzae.The prevalence of methicillin-resistant S.aureus(MRSA)in outpatients(24.5%)was lower than that in inpatient children(31.5%).The MRSA isolates from outpatients showed lower resistance rates to the antibiotics tested than the strains isolated from inpatient children.The prevalence of vancomycin-resistant Enterococcus faecalis or E.faecium and penicillin-resistant S.pneumoniae was low in either outpatients or inpatient children.S.pneumoniae,β-hemolytic Streptococcus and S.viridans showed high resistance rates to erythromycin.The prevalence of erythromycin-resistant group A β-hemolytic Streptococcus was higher in outpatients than that in inpatient children.The prevalence of β-lactamase-producing H.influenzae showed an overall upward trend in children,but lower in outpatients(45.1%)than in inpatient children(59.4%).The prevalence of carbapenem-resistant Klebsiella pneumoniae(CRKpn),carbapenem-resistant Pseudomonas aeruginosa(CRPae)and carbapenem-resistant Acinetobacter baumannii(CRAba)was 14%,11.7%,47.8%in outpatients,but 24.2%,20.6%,and 52.8%in inpatient children,respectively.The prevalence of multidrug-resistant E.coli,K.pneumoniae,Proteus mirabilis,P.aeruginosa and A.baumannii strains was lower in outpatients than in inpatient children.The prevalence of fluoroquinolone-resistant E.coli,ESBLs-producing K.pneumoniae,ESBLs-producing P.mirabilis,carbapenem-resistant E.coli(CREco),CRKpn,and CRPae was lower in children in outpatients than in inpatient children,but the prevalence of CRAba in 2021 was higher than in inpatient children.Conclusions The distribution of clinical isolates from children is different between outpatients and inpatients.The prevalence of MRSA,ESBL,and CRO was higher in inpatient children than in outpatients.Antibiotics should be used rationally in clinical practice based on etiological diagnosis and antimicrobial susceptibility test results.Ongoing antimicrobial resistance surveillance and prevention and control of hospital infections are crucial to curbing bacterial resistance.
3.Surveillance of antimicrobial resistance in clinical isolates of Escherichia coli:results from the CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Shanmei WANG ; Bing MA ; Yi LI ; Yang YANG ; Fupin HU ; Demei ZHU ; Yingchun XU ; Xiaojiang ZHANG ; Zhaoxia ZHANG ; Ping JI ; Yi XIE ; Mei KANG ; Chuanqing WANG ; Aimin WANG ; Yuanhong XU ; Ying HUANG ; Ziyong SUN ; Zhongju CHEN ; Yuxing NI ; Jingyong SUN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Yunsong YU ; Jie LIN ; Bin SHAN ; Yan DU ; Sufang GUO ; Lianhua WEI ; Fengmei ZOU ; Hong ZHANG ; Chun WANG ; Yunjian HU ; Xiaoman AI ; Chao ZHUO ; Danhong SU ; Dawen GUO ; Jinying ZHAO ; Hua YU ; Xiangning HUANG ; Wen'en LIU ; Yanming LI ; Yan JIN ; Chunhong SHAO ; Xuesong XU ; Chao YAN ; Lixia ZHANG ; Juan MA ; Shuping ZHOU ; Yan ZHOU ; Lei ZHU ; Jinhua MENG ; Fang DONG ; Zhiyong LÜ ; Fangfang HU ; Han SHEN ; Wanqing ZHOU ; Wei JIA ; Gang LI ; Jinsong WU ; Yuemei LU ; Jihong LI ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanping ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Jilu SHEN ; Wenhui HUANG ; Ruizhong WANG ; Hua FANG ; Bixia YU ; Yong ZHAO ; Ping GONG ; Kaizhen WEN ; Yirong ZHANG ; Jiangshan LIU ; Longfeng LIAO ; Hongqin GU ; Lin JIANG ; Wen HE ; Shunhong XUE ; Jiao FENG ; Chunlei YUE
Chinese Journal of Infection and Chemotherapy 2025;25(1):39-47
Objective To investigate the changing antibiotic resistance profiles of E.coli isolated from patients in the 52 hospitals participating in the CHINET program from 2015 to 2021.Methods Antimicrobial susceptibility was tested for clinical isolates of E.coli according to the unified protocol of CHINET program.WHONET 5.6 and SPSS 20.0 software were used for data analysis.Results Atotal of 289 760 nonduplicate clinical strains ofE.coli were isolated from 2015 to 2021,mainly from urine samples(44.7±3.2)%.The proportion of E.coli strains isolated from urine samples was higher in females than in males(59.0%vs 29.5%).The proportion of E.coli strains isolated from respiratory tract and cerebrospinal fluid samples was significantly higher in children than in adults(16.7%vs 7.8%,0.8%vs 0.1%,both P<0.05).The isolates from internal medicine department accounted for the largest proportion(28.9±2.8)%with an increasing trend over years.Overall,the prevalence of ESBLs-producing E.coli and carbapenem resistant E.coli(CREco)was 55.9%and 1.8%,respectively during the 7-year period.The prevalence of ESBLs-producing E.coli was the highest in tertiary hospitals each year from 2015 to 2021 compared to secondary hospitals.The prevalence of CREco was higher in children's hospitals compared to secondary and tertiary hospitals each year from 2015 to 2021.The prevalence of ESBLs-producing E.coli in tertiary hospitals and children's hospitals and the prevalence of CREco in children's hospitals showed a decreasing trend over the 7-year period.The prevalence of CREco in secondary and tertiary hospitals increased slowly.Antibiotic resistance rates changed slowly from 2015 to 2021.Carbapenem drugs(imipenem,meropenem)were the most active drugs amongβ-lactams against E.coli(resistance rate≤2.1%).The resistance rates of E.coli to β-lactam/β-lactam inhibitor combinations(piperacillin-tazobactam,cefoperazone-sulbactam),aminoglycosides(amikacin),nitrofurantoin and fosfomycin(for urinary isolates only)were all less than 10%.The resistance rate of E.coli strains to antibiotics varied with the level of hospitals and the departments where the strains were isolated,especially for cefazolin and ciprofloxacin,to which the resistance rate of E.coli strains from children in non-ICU departments was significantly lower than that of the strains isolated from other departments(P<0.05).The E.coli isolates from ICU showed higher resistance rate to most antimicrobial agents tested(excluding tigecycline)than the strains isolated from other departments.The E.coli strains isolated from tertiary hospitals showed higher resistance rates to the antimicrobial agents tested(excluding tigecycline,polymyxin B,cefepime and carbapenems)than the strains from secondary hospitals and children's hospitals.Conclusions E.coli is an important pathogen causing clinical infection.More than half of the clinical isolates produced ESBL.The prevalence of CREco is increasing in secondary and tertiary hospitals over the 7-year period even though the overall prevalence is still low.This is an issue of concern.
4.Diagnotic value of endoscopic retrograde cholangiopancreatography combined with modified biopsy forceps for suspected malignant biliary stricture (with video)
Junying LIU ; Mengqiang CAI ; Yurong CUI ; Wei LIU ; Zhaoxia HE ; Haiyang YU ; Jinxin LI
Chinese Journal of Digestive Endoscopy 2025;42(7):572-576
To explore the diagnostic value of endoscopic retrograde cholangiopancreatography (ERCP) combined with modified biopsy forceps for suspected malignant biliary obstruction, 72 patients with suspected malignant biliary obstruction who underwent ERCP using modified biopsy forceps from January 2017 to April 2023 in the First Affiliated Hospital of Henan University of Chinese Medicine were selected as the modified group, while 61 contemporaneous patients who underwent ERCP with traditional biopsy forceps were selected as the control group at the same time. The stenosis site was identified during the operation, and the effective pathological tissue was obtained by biopsy. Benign or malignant tumor was determined according to the medical history and clinical follow-up data. The sensitivity and specificity of the two groups were compared. The success rate of biopsy was 100.00% in the two groups. All patients had no serious complications and were diagnosed histologically. Sixty-seven cases were finally diagnosed as malignant and 5 cases were benign in the modified group. In the control group, 58 cases were malignant and 3 cases were benign. The sensitivity for diagnosis of malignant biliary stricture was 79.10% (54/67) in the modified group, and 60.34% (35/58) in the control group, with significant difference ( χ2=6.218, P= 0.013). The specificity of the two methods for the diagnosis of malignant stenosis was 100.00%. Therefore, it is safe and effective to apply ERCP combined with the modified biopsy forceps in the diagnosis of extrahepatic malignant bile duct stenosis.
5.Response inhibition and emotion processing in checking and washing symptom subtypes of patients with obsessive-compulsive disorder
Wanyi CAO ; Zhaoxia LIU ; Kaili ZHENG ; Wanrong PENG ; Huihui YANG ; Mingtian ZHONG ; Jinyao YI
Chinese Journal of Psychiatry 2025;58(4):250-258
Objective:This study aims to explore whether there are specific behavioral deficits of response inhibition and emotional processing in patients with checking obsessive-compulsive disorder (OCD) and those with washing OCD.Methods:A cross-sectional study was conducted from January 2020 to December 2022, collecting clinical data from 75 OCD patients at the outpatient psychological consultation clinic of Xiangya Second Hospital and the clinical psychology department of Hunan Brain Hospital. The sample included 40 OCD patients with checking type (checking group, 24 males, 16 females, aged 14-34 years, mean age 22.1±5.0 years) and 35 OCD patients with washing type (washing group, 12 males, 23 females, aged 14-41 years, mean age 22.6±6.7 years). An age-matched healthy control group (control group) of 80 individuals (HCs, 37 males and 43 females, aged 14-25 years, mean age 20.8±1.9 years) was also recruited. All participants completed the Go/No-go task and Hariri task with behavioral data recorded. The Dimensional Yale-Brown Obsessive-Compulsive Scale was used to assess the severity of OCD symptoms. The Center for Epidemiologic Studies Depression Scale (CES-D) and State Anxiety Inventory (STAI) were used to assess the severity of depression and anxiety. A 3 (group: checking OCD, washing OCD and HC)×2 (task type: Go vs. No-go/Shape vs. Face) repeated-measures ANOVA was conducted to compare the behavioral performance across tasks.Results:Compared with HC group, both checking OCD group and washing OCD group had significantly higher scores in depression and anxiety ( F=85.43, 32.33,both P<0.05). When performing Go/No-go task, a significant group×task interaction effect was observed ( F3(2, 152)=3.23, P3=0.042, partialη32=0.04). In the checking OCD group, No-go accuracy was significantly lower than Go accuracy (accuracy=0.821 vs. 0.893, P<0.001); the checking OCD had significantly lower accuracy than HC in the No-go task (accuracy=0.821 vs. 0.876, P=0.005); there were no significant group differences between the washing OCD and HC in the No-go task ( P>0.05). When performing Hariri task, a significant group×task interaction effect was found ( F3(2, 152)=4.91, P3=0.009, partial η32=0.06). The washing OCD group showed significantly lower accuracy in matching emotional faces than the control group (0.879 vs. 0.936, P=0.001), whereas the checking OCD group showed no significant difference from the HC ( P>0.05); there were no significant group differences in shape matching task ( P>0.05). The accuracy of shape matching task was significantly higher than face matching task in the three groups (shape: checking OCD=0.936,washing OCD=0.929,HC=0.943; face:checking OCD=0.877,washing OCD=0.844,HC=0.917;all P>0.05). Conclusions:Checking OCD and washing OCD exhibit distinct behavioral impairment patterns in response inhibition and emotional processing. Checking-type OCD is primarily characterized by impaired response inhibition, whereas washing-type OCD is mainly associated with deficits in emotion processing.
6.Cross-sectional Study on TCM Syndromes of 800 Patients with Overlapping Gastrointestinal Symptoms of NERD and EPS Based on Factor Analysis and Clustering Analysis
Mi LYU ; Hui CHE ; Bingduo ZHOU ; Zhaoxia LIU ; Xiaoling ZHOU ; Xiaokang WANG ; Yuxi WANG ; Xiyun QIAO ; Jingyi XIE ; Fengyun WANG
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(9):141-148
Objective To explore TCM syndrome distribution law in patients with overlapping non-erosive reflux disease(NERD)and epigastric pain syndrome(EPS)gastrointestinal symptoms.Methods A multi-center,cross-sectional study was conducted to investigate the general information of 800 patients with overlapping NERD and EPS gastrointestinal symptoms in four hospitals,such as gender,age,body mass index(BMI)and four diagnostic information of TCM.Descriptive frequency analysis,factor analysis and clustering analysis were used to summarize the TCM syndrome types and distribution characteristics.Results The average age of 800 patients with overlapping NERD and EPS gastrointestinal symptoms was(44.50±14.43)years old,the average BMI was(23.17±4.80)kg/m2,and the male to female ratio was 3:5.Frequency of 95 TCM symptoms/signs≥20%.18 common factor variables were obtained based on factor analysis,and the cumulative contribution rate was 67.11%.The first three syndrome elements of disease location were liver,stomach and spleen,and the disease nature syndrome elements were qi stagnation,qi deficiency and yin deficiency.Based on the clustering analysis of 18 common factor variables,combined with expert discussion,four main TCM syndrome types were obtained,which were liver-stomach stagnation heat syndrome(213 cases,26.63%),spleen-stomach damp heat syndrome(209 cases,26.13%),spleen-stomach deficiency and cold qi stagnation syndrome(190 cases,23.75%)and qi-phlegm stagnation syndrome(188 cases,23.50%).There was no significant difference in the distribution of TCM syndrome types among patients with different genders,ages and BMI values(P>0.05).Patients with a course of disease≥2 years and those residing long-term north of the Qinling-Huaihe Line showed a significantly higher prevalence of spleen-stomach dampness-heat syndrome(P<0.05).Conclusion The syndrome elements of disease location of overlapping NERD and EPS gastrointestinal symptoms are mainly liver,stomach and spleen.The TCM syndrome types are liver-stomach stagnation heat syndrome,spleen-stomach damp heat syndrome,spleen-stomach deficiency cold qi stagnation syndrome and qi-phlegm stagnation syndrome.The course of disease and the regional differences between north and south may be the influencing factors of the distribution of syndrome types.
7.High-grade astrocytoma with piloid features: a clinicopathological study of seven cases
Wanjing ZOU ; Ruichao CHAI ; Li XU ; Ting SUN ; Zhen LIU ; Zhaoxia LIU ; Qing CHANG
Chinese Journal of Pathology 2025;54(8):805-811
Objective:To investigate the clinicopathological and molecular genetic features of high-grade astrocytomas with piloid features (HGAP).Methods:Clinical, histopathological and imaging data of 7 cases of HGAP diagnosed at the Neuropathology Center of Beijing Tiantan Hospital, Beijing, China from August 2023 to October 2024 were collected. The histopathological and molecular features for each case were analyzed.Results:Among the seven patients there were 4 males and 3 females, with the median age of 37 (34, 51) years. Patients exhibited various clinical symptoms and signs depending on the tumor′s location. Four tumors were located in the cerebellum, 2 in the supratentorial region, and 1 in the spinal cord. Magnetic resonance imaging showed that 6 of the 7 patients had cystic and solid lesions, with focal or nodular enhancement and relatively unclear boundaries. Histopathological features had a diverse morphological spectrum and extensive grading. Five cases displayed a pilocytic astrocytoma-like appearance with infiltrative growth patterns, while two cases presented glioblastoma-like morphology, containing locally anaplastic pleomorphic xanthoastrocytoma with minor pilocytic components. All tumors were diffusely positive for GFAP and Olig2, while 4 tumors exhibited partial or complete loss of ATRX. The Ki-67 proliferation index ranged from 2% to 40%. Next-generation sequencing showed that tumor cells most commonly harbored MAPK pathway gene mutations, and/or homozygous deletions of CDKN2A/B, and/or ATRX mutations. Among the 7 HGAP models, 3 cases showed the three types of molecular genetic variations, 1 case showed MAPK mutations and homozygous deletions of CDKN2A/B, 1 case had MAPK mutations and ATRX mutations, 1 case had only MAPK mutations, and 1 case showed no detectable molecular changes. DNA methylation clustering analyses showed that the median model prediction score was 0.94 (range, 0.85-0.99) for the 7 HGAP models. Five cases showed the MGMT promoter hypermethylation. Four patients received radiotherapy and concomitant temozolomide treatment after surgery, while three patients received no known treatments. At the last follow-up, seven patients were alive without any tumor, two patients had recurrence, and one patient was alive with the tumor.Conclusions:HGAP is relatively rare and predominantly occurs in adults. It has a wide histopathological spectrum and various histological grades, characterized by piloid astrocytoma-like and glioblastoma-like histological features. Its diagnosis relies on methylation clustering analysis. Most tumors harbor gene alterations in the MAPK signaling pathway, along with homozygous deletions of CDKN2A/B or ATRX mutations. The biological behavior is typically aggressive, while imaging and histological findings can be misleading. Therefore, clinicians need to increase their diagnostic awareness of this tumor and prevent missed diagnoses.
8.Effect of transcutaneous electrical acupoint stimulation on postoperative muscle atrophy in patients with foot and ankle fracture: A randomized controlled pilot study
Ying Xue ; Xiaoqian Dai ; Xueming Chen ; Shiqi Guo ; Chunxian Wang ; Zhili Li ; Rui He ; Zhaoxia Liu ; Yinghui Li ; Baixiao Zhao
Journal of Traditional Chinese Medical Sciences 2025;2025(2):308-316
ObjectiveTo evaluate the efficacy and safety of transcutaneous electrical acupoint stimulation (TEAS) for muscle atrophy in patients with immobilization after surgical fixation of foot and ankle fractures.MethodsThis was a two-arm randomized controlled trial wherein 80 patients were recruited and divided into control (n = 40) and intervention (n = 40) groups. The control group received conventional orthopedic treatment, whereas the intervention group received TEAS and conventional treatment. The intervention group received TEAS 3 times a week for 30 min each time for 8 weeks. The primary outcomes were muscle thickness (MT) and cross-sectional area (CSA) of the rectus femoris and gastrocnemius muscles, whereas the secondary outcome measure was echo intensity (EI). Data were collected before the fixation operations (baseline assessment) and 4 and 8 weeks after intervention.ResultsCompared with baseline, the MT and CSA were reduced in both groups by the end of treatment, whereas EI increased in both groups. At week 4, the reduction in the rectus femoris CSA in the intervention group was significantly lower than that in the control group (P = .02); however, the between-group differences in the MT and EI (all P .05) were not significant. No serious adverse events were observed in either group.ConclusionOur study showed that TEAS can improve muscle atrophy by attenuating the decline in the muscle CSA. Because this was only a pilot trial, subsequent studies will need longer follow-ups and larger sample sizes.
9.Prospects for the development of space medicine experiments in China Space Station
Yinghui LI ; Zhaoxia LIU ; Lina QU ; Zhili LI ; GuangJun HE ; Chunyan WANG ; Zi XU
Space Medicine & Medical Engineering 2025;36(3):189-198
Space medicine,as a comprehensive discipline ensuring the safety,health,and efficient performance of astronauts during manned space missions,focuses on elucidating the underlying mechanisms of multi-system physiological effects induced by extreme space environments and developing corresponding protective strategies.With China's space program transitioning into an application and development phase,space medical experiments—a critical domain within space applications—face significant opportunities and challenges.This paper reviews the international development trend in the field of medical experiments and the progress in China from perspectives including platform system construction,utilization of novel technologies,and scientific discoveries.It further outlines the engineering framework,guiding ideology,and key research directions for space medical experiments under China's Space Station Application and Development Project.Deliberations and prospects center on the in-depth analysis of the adaptation law of life in space flight,the application of big data and artificial intelligence technology,the emerging challenges it faces,and the scientific research organization models.This work aims to provide a reference for the development of space medical experiment field in China.
10.Clinical and imaging study of dystrophinopathy in twins: a comparative analysis of 7 pairs of twin patients
Miao HAN ; Qingyue YUAN ; Chang LIU ; Xu HAN ; Yanyu LU ; Zhiying XIE ; Xinsheng HAN ; Wei ZHANG ; Zhaoxia WANG ; Yun YUAN
Chinese Journal of Neurology 2025;58(8):854-861
Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.


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