1.A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout Disease
Jing HU ; Ying JIN ; Yan ZHANG ; Ji LI ; Wenhui WANG ; Yue CHI ; Chunxu LI ; Zhenjie ZHANG ; Yaping LIU ; Xiaotian CHU ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):52-59
Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.
2.Diagnostic Techniques and Risk Prediction for Cardiovascular-kidney-metabolic (CKM) Syndrome
Song HOU ; Lin-Shan ZHANG ; Xiu-Qin HONG ; Chi ZHANG ; Ying LIU ; Cai-Li ZHANG ; Yan ZHU ; Hai-Jun LIN ; Fu ZHANG ; Yu-Xiang YANG
Progress in Biochemistry and Biophysics 2025;52(10):2585-2601
Cardiovascular disease (CVD), chronic kidney disease (CKD), and metabolic disorders are the 3 major chronic diseases threatening human health, which are closely related and often coexist, significantly increasing the difficulty of disease management. In response, the American Heart Association (AHA) proposed a novel disease concept of “cardiovascular-kidney-metabolic (CKM) syndrome” in October 2023, which has triggered widespread concern about the co-treatment of heart and kidney diseases and the prevention and treatment of metabolic disorders around the world. This review posits that effectively managing CKM syndrome requires a new and multidimensional paradigm for diagnosis and risk prediction that integrates biological insights, advanced technology and social determinants of health (SDoH). We argue that the core pathological driver is a “metabolic toxic environment”, fueled by adipose tissue dysfunction and characterized by a vicious cycle of systemic inflammation and oxidative stress, which forms a common pathway to multi-organ injury. The at-risk population is defined not only by biological characteristics but also significantly impacted by adverse SDoH, which can elevate the risk of advanced CKM by a factor of 1.18 to 3.50, underscoring the critical need for equity in screening and care strategies. This review systematically charts the progression of diagnostic technologies. In diagnostics, we highlight a crucial shift from single-marker assessments to comprehensive multi-marker panels. The synergistic application of traditional biomarkers like NT-proBNP (reflecting cardiac stress) and UACR (indicating kidney damage) with emerging indicators such as systemic immune-inflammation index (SII) and Klotho protein facilitates a holistic evaluation of multi-organ health. Furthermore, this paper explores the pivotal role of non-invasive monitoring technologies in detecting subclinical disease. Techniques like multi-wavelength photoplethysmography (PPG) and impedance cardiography (ICG) provide a real-time window into microcirculatory and hemodynamic status, enabling the identification of early, often asymptomatic, functional abnormalities that precede overt organ failure. In imaging, progress is marked by a move towards precise, quantitative evaluation, exemplified by artificial intelligence-powered quantitative computed tomography (AI-QCT). By integrating AI-QCT with clinical risk factors, the predictive accuracy for cardiovascular events within 6 months significantly improves, with the area under the curve (AUC) increasing from 0.637 to 0.688, demonstrating its potential for reclassifying risk in CKM stage 3. In the domain of risk prediction, we trace the evolution from traditional statistical tools to next-generation models. The new PREVENT equation represents a major advancement by incorporating key kidney function markers (eGFR, UACR), which can enhance the detection rate of CKD in primary care by 20%-30%. However, we contend that the future lies in dynamic, machine learning-based models. Algorithms such as XGBoost have achieved an AUC of 0.82 for predicting 365-day cardiovascular events, while deep learning models like KFDeep have demonstrated exceptional performance in predicting kidney failure risk with an AUC of 0.946. Unlike static calculators, these AI-driven tools can process complex, multimodal data and continuously update risk profiles, paving the way for truly personalized and proactive medicine. In conclusion, this review advocates for a paradigm shift toward a holistic and technologically advanced framework for CKM management. Future efforts must focus on the deep integration of multimodal data, the development of novel AI-driven biomarkers, the implementation of refined SDoH-informed interventions, and the promotion of interdisciplinary collaboration to construct an efficient, equitable, and effective system for CKM screening and intervention.
4.Correlation of seminal plasma oxidation reduction potential and sperm DNA fragmentation index to sperm motion parameters and their predictive value for oligoasthenozoospermia.
Li-Sha CHEN ; Ning ZHANG ; Xing-Chi LIU ; Qian ZHANG ; Li-Yan LI ; Yue-Xin YU
National Journal of Andrology 2025;31(1):11-18
OBJECTIVE:
To investigate the correlation of seminal plasma oxidation reduction potential (ORP), normalized oxidation-reduction potential (nORP) and sperm DNA fragmentation index (DFI) to sperm motion parameters, and their clinical predictive value for oligoasthenozoospermia (OAZ).
METHODS:
This study included 433 male subjects visiting the Clinic of Andrology in our hospital from March to May 2024. According to sperm concentration and the percentage of progressively motile sperm (PMS), we divided them into a normal control (n = 119), an oligozoospermia (OZ, n = 118), an athenozoospermia (AZ, n = 119) and an OAZ group (n = 77). Using the electrode method, we measured the seminal plasma ORP, calculated nORP=ORP/sperm concentration (mV/[10⁶/ml]), and determined DFI and high DNA chromatin sperm (HDS) by flow cytometry based on sperm chromatin structure assay (SCSA), followed by comparison among the four groups in age, abstinence days, semen volume, total sperm count, sperm concentration, PMS, non-progressively motile sperm (NPMS), immotile sperm (IMS), curvilinear velocity (VCL), straight line velocity (VSL), average path velocity (VAP), linearity (LIN), straightness(STR), wobble (WOB), DFI, HDS, ORP and nORP. Using the receiver operating characteristic (ROC) curve, we assessed the predictive value of DFI, ORP and nORP for OAZ, and analyzed the correlation of DFI, ORP and nORP to sperm motion parameters by Pearson and Spearman analyses.
RESULTS:
Statistical analysis revealed statistically significant differences among the four groups in semen volume, abstinence days, total sperm count, sperm concentration, PMS, NPMS, IMS, total sperm motility, VCL, VSL, VAP, STR, DFI, HDS, ORP and nORP (P < 0.05), but not in age, LIN and WOB (P > 0.05). The area under the ROC curve (AUC) for the predictive value of DFI for OAZ was 0.880, with the critical value of 8.920, sensitivity of 74.8% and specificity of 88.2%; that of ORP for AZ was 0.698, with the critical value of 155.375, sensitivity of 70.6% and specificity of 64.7%; and that of nORP for OZ was 0.999, with the critical value of 9.844, sensitivity of 98.3% and specificity of 99.2%. Pearson and Spearman correlation analyses showed that DFI was correlated positively with age, abstinence days, semen volume, IMS, HDS and ORP, but negatively with PMS, NPMS, total sperm motility, VCL, VSL, VAP and STR; ORP positively with abstinence days, semen volume, IMS, DFI and nORP, but negatively with PMS, NPMS, total sperm motility, VSL, LIN and STR; and nORP positively with HDS, but negatively with abstinence days, total sperm count, sperm concentration, PMS and NPMS.
CONCLUSION
Oxidative stress (OS) may be an important pathological factor for elevated ORP, increased DFI and changes of routine sperm motion parameters, consequently leading to OAZ. As OS markers, DFI and ORP have a high predictive value for OS-induced OAZ.
Male
;
Humans
;
DNA Fragmentation
;
Semen/metabolism*
;
Sperm Motility
;
Spermatozoa
;
Oxidation-Reduction
;
Adult
;
Oligospermia
;
Sperm Count
;
Semen Analysis
;
Asthenozoospermia
5.Research progress of digital technology-assisted walking rehabilitation in post-stroke hemiplegic patients
Yan CHI ; Di ZHANG ; Hexiao GAO ; Xue JIANG
The Journal of Practical Medicine 2025;41(15):2426-2434
As population aging intensifies,stroke incidence is rising yearly.Complicated with neurological impairment,this condition often leads to motor dysfunction,affecting walking stability and coordination and severely impacting the patient's daily life and mental state.In recent years,digital technology-assisted walking rehabilitation training has shown great potential in post-stroke rehabilitation.By integrating modern digital technolo-gies such as virtual reality,intelligent feedback systems,and remote rehabilitation,this approach not only provides personalized rehabilitation plans but also promotes the recovery of walking function through immersive training,real-time feedback,and remote monitoring.This article reviews the application status,effectiveness,and limita-tions of digital-technology-assisted walking rehabilitation for post-stroke hemiplegic patients.It aims to clarify the new direction of post-stroke walking training and explore more effective rehabilitation methods to help patients regain their walking ability.
6.Efficacy of ultrasound therapy combined with muscle imbalance adjustment training in patients with adhesive capsulitis of the shoulder
Runhong CUI ; Yan CHI ; Di ZHANG ; Hexiao GAO ; Xue JIANG
The Journal of Practical Medicine 2025;41(2):208-214
Objective To explore the short and long term efficacy of ultrasound therapy combined with muscle imbalance adjustment training in patients with adhesive capsulitis(AC) ofthe shoulder. Methods A total of 60 AC patients were divided into an observation group and a control group,both each consisting of 30 cases. The observation group underwentultrasound therapy along with muscle imbalance adjustment training,while the control group received acupuncture treatment,both for a duration of 20 days. The Visual Analogue Scale(VAS),goniom-eter for ROM,Manual Muscle Testing(MMT),Constant-Murley Shoulder Score,and modified Barthel index were used to access shoulder jointpain level,range of motion (ROM),peripheral muscle strength,shoulder joint func-tion,and daily living abilities,respectively. The Hamilton Anxiety Scale (HAMA) and Hamilton Depression Scale (HAMD) were utilized to evaluate the levels of anxiety and depression.All the assessments were conducted and compared between the two groups before treatment,at the end of treatment,and at 6 and 12 months after treatment. Results Both groups showed varying degrees of improvement in ROM,MMT,VAS,Constant-Murley score,modified Barthel index,and emotional status compared to pre-treatment. The observation group demonstrated superior outcomes in posterior shoulder extension strength,VAS,Constant-Murley score,modified Barthel index,HAMA,and HAMD scores at the end of treatment (P<0.05). At 6 months post-treatment,the observation group showed better shoulder joint flexion,extension,abduction,and adduction ROM,as well as muscle strength in flexion,external rotation,and internal rotation,VAS,Constant-Murley score,modified Barthel index,HAMA,and HAMD scores. At 12 months after treatment,the observation group continued to show superior outcomes in all the aforementioned indexes (P<0.05). Conclusion The combination of ultrasound therapy and muscle imbalance adjustment training can effectively reduce shoulder joint pain,improve ROM,enhance muscle strength around the shoulder joint,improve shoulder joint function,alleviate anxiety and depression,and ultimately enhance the quality of life for patients with AC.
7.Correlation between cerebral perfusion and cognitive function in patients with minor stroke or transient ischemic attack caused by severe intracranial arterial stenosis or occlusion
Meiling SHANG ; Yanran CHEN ; Bingbing GUO ; Xiaotong CHI ; Lu QUAN ; Gezhi YAN ; Hui WANG ; Ling MA ; Fude LIU ; Jia YU ; Jianfeng HAN ; Ming ZHANG ; Wanghuan DUN ; Yujing WANG
Chinese Journal of Cerebrovascular Diseases 2025;22(10):701-711
Objective This study aimed to investigate the correlation of cerebral perfusion and cognitive function status in patients with minor stroke(MS)or transient ischemic attack(TIA)complicated by severe intracranial arterial stenosis or occlusion(hereafter referred to as ICAS-MSTIA).Methods Retrospectively enrol consecutive ICAS-MSTIA patients admitted to the Department of Neurology,the First Affiliated Hospital of Xi'an Jiaotong University,from June 2023 to May 2024.In the meantime,healthy controls were openly recruited.The ICAS-MSTIA patients were divided into two groups based on the side of intracranial large artery stenosis or occlusion:the left intracranial large artery involvement group and the right intracranial large artery involvement group.All patients with intracranial large artery stenosis or occlusion underwent MR scanning within 2 weeks after the first episode of TIA or MS,while there was no specific time requirement for MR examination in the healthy control group.On the day of MR scanning,the Montreal cognitive assessment(MoCA)scale was used to evaluate the participants'global cognitive function and performance in various cognitive domains,including visuospatial/executive function,naming,attention,language,abstraction,delayed recall,and orientation.General information of all participants was collected,including age,sex,educational level,body mass index,and history of smoking and alcohol consumption.Clinical data were collected from both left and right intracranial large artery involvement groups,including cerebrovascular risk factors(such as,diabetes mellitus,hypertension,and hyperlipidemia),National Institutes of Health stroke scale(NIHSS)score at admission,responsible stenotic or occluded arteries(internal carotid artery,middle cerebral artery),degree of stenosis in the responsible vessel(severe stenosis[stenosis rate 70%-99%],occlusion[stenosis rate100%])and non-responsible vessel(no stenosis[0],mild stenosis[stenosis rate>0-49%]),collateral circulation compensation(American Society of Interventional and Therapeutic Neuroradiology/Society of Interventional Radiology[ASTIN/SIR]collateral circulation classification),and responsible events(TIA,MS).General data and MoCA scale scores were compared across the three groups,while clinical data were compared between the left and right intracranial large artery involvement groups.Statistical parametric mapping 12(SPM 12)was used to perform voxel-wise independent samples t-tests on cerebral blood flow(CBF)differences among the left ICAS-MSTIA group,right ICAS-MSTIA group,and healthy control group,with cluster-level family-wise error(FWE)correction applied for adjustment.Multiple linear regression analysis was conducted to evaluate the relationship between global CBF values and total MoCA scores in ICAS-MSTIA patients with left or right intracranial large artery involvement.Results A total of 33 ICAS-MSTIA patients and 33 healthy controls were enrolled in the study.Among the ICAS-MSTIA patients,21 had left intracranial large artery involvement and 12 had right involvement.(1)Among the three groups,statistically significant differences were observed in the proportions of individuals with reported smoking history(P=0.024)and alcohol consumption history(P=0.011).The left intracranial large artery involvement group had a higher NIHSS score(0[0,2]vs.0[0,0],P=0.044)and a higher proportion of patients with internal carotid artery involvement(13/21 cases vs.2/12 cases,P=0.027)compared with the right side group.No statistically significant differences were observed in other general or clinical data across the three groups or between the two non-control groups(all P>0.05).(2)Statistically significant differences were found across the three groups in the MoCA scale total score and scores of visuospatial/executive function,attention,language,abstraction,delayed recall,and orientation cognitive domains(all P<0.05),while no significant difference was noted in the naming score(P=0.063).The left intracranial large artery involvement group had lower total MoCA score and lower scores in visuospatial/executive function,attention,language,abstraction,delayed recall,and orientation in comparison to the healthy control group(all P<0.016 7).The right intracranial large artery involvement group had significantly lower scores in language,abstraction,and orientation domains than the healthy control group(all P<0.016 7).Additionally,the left side group had a lower attention domain score than the right side group(P<0.016 7).No other statistically significant differences were found in pairwise comparisons(all P>0.016 7).(3)Patients in both the left and right intracranial large artery involvement groups exhibited a significant decrease in CBF in extensive regions on the affected side,including the temporal lobe,dorsolateral prefrontal cortex,and occipital lobe.Furthermore,after correction,in the left involvement group CBF was higher in the contralateral lingual gyrus,cuneus,and calcarine sulcus compared with the healthy control group(P<0.05).While in the right involvement group,no regions had increased CBF compared to the healthy control group.(4)Multiple linear regression showed positive correlation between CBF in ipsilateral precentral gyrus and superior temporal gyrus,and the total MoCA score in patients with left intracranial large artery involvement(FWE-corrected,P<0.05).In contrast,there was no correlation between CBF and total MoCA score in patients with right intracranial large artery involvement.Conclusions ICAS-MSTIA patients exhibited various degrees of impairment in cerebral perfusion and cognitive function.A significant positive correlation is observed between these two impairments in patients with left intracranial large artery involvement.
8.Orthodontic considerations and timing selection for patients with stage Ⅳ periodontitis
Yan PENG ; Chi ZHANG ; Li GAO ; Xiting LI ; Chuanjiang ZHAO
STOMATOLOGY 2025;45(1):25-36
Patients suffering from stage Ⅳ periodontitis manifest substantial alveolar bone destruction and pronounced tooth loss,fre-quently accompanied by masticatory dysfunction,occlusal disorder and tooth displacement or torsion.Standard periodontal interventions alone are insufficient to stabilize the condition,address masticatory dysfunction,and enhance patients'quality of life.Hence,intricate reconstructive and interdisciplinary regimens,encompassing orthodontic treatment,are often indispensable.Orthodontic therapy can op-timize the masticatory function and esthetic appearance of patients,and promote periodontal well-being.However,individuals with stageⅣ periodontitis present with inadequate periodontal support tissue and a heightened risk profile,rendering their orthodontic management a considerable clinical challenge.This article reviews the orthodontic considerations and optimal timing for intervention in patients with stage Ⅳ periodontitis and presents a representative case of combined periodontal-orthodontic-orthognathic treatment for pe-riodontitis(stage Ⅳ,grade C),in order to provide reference for periodontists and orthodontists.
9.Survival characteristics of myelodysplastic syndrome with U2AF1-mutation and the clinical efficacy of arsenic-containing traditional Chinese medicine compound prescription
Chaochang ZHANG ; Chi LIU ; Dexiu WANG ; Zhuo CHEN ; Yan LYU ; Haiyan XIAO ; Weiyi LIU ; Yonggang XU ; Xiupeng YANG ; Rou MA ; Xudong TANG
Journal of Beijing University of Traditional Chinese Medicine 2025;48(9):1211-1221
Objective To explore the clinical characteristics of myelodysplastic syndrome(MDS)with U2 small nuclear RNA cofactor 1(U2AF1)mutation in different age groups,as well as the efficacy and prognosis of an arsenic-containing traditional Chinese medicine(TCM)compound prescription(Qinghuang Capsules combined with Bushen Yijing Formula).Methods A retrospective analysis was conducted on the clinical data of patients with MDS who were hospitalized in the Hematology Department Ward of Xiyuan Hospital,China Academy of Chinese Medical Sciences,and received arsenic-containing TCM compound treatment from November 30,2020,to September 30,2023.Stratified by age,the U2AF1 mutation and wild-type groups aged<65 years and≥65 years were compared in terms of sex,TCM syndrome,World Health Organization classification,MDS Revised International Prognostic Score System(IPSS-R)score,blood routine indicators,serum lactate dehydrogenase content,nephroblastoma 1(WT1)expression level,bone marrow puncture and biopsy indicators,and chromosomal prognostic grades,et al.Furthermore,the efficacy of arsenic-containing TCM compound were compared in the U2AF1 mutation and wild-type groups among different age groups,as well as the influence of age on the survival prognosis of MDS patients with U2AF1 mutation.Results A total of 201 patients with MDS were included.104 patients were under 65 years old,among whom 20 had U2AF1 mutation,and 84 had wild-type.Ninety-seven patients were aged 65 years or older,among whom 19 patients had the U2AF1 mutation and 78 had the wild-type.Among patients aged<65 years,the U2AF1 mutation group had a higher proportion of male patients and very low-risk/low-risk patients with an IPSS-R score≤3(P<0.05),a lower mean corpuscular volume(MCV)(P<0.05),and a relatively higher proportion of peripheral blood cell line 1 reduction than the wild-type group(P<0.05).Among patients aged≥65 years,the MCV in the U2AF1 mutation group was lower(P<0.05),and the expression level of the bone marrow WT1 gene and the proportion of patients with reticular fiber grade 4 were relatively higher than in the wild-type group(P<0.05).The total effective rate of the arsenic-containing TCM compound for patients with U2AF1 mutation was 61.5%(24/39),and the total response rate was 30.8%(12/39).The total effective rate for the wild-type patients was 67.9%(110/162),and the total response rate was 29.6%(48/162).No significant difference was observed in the total effective and response rates.Kaplan-Meier survival analysis of 39 patients with U2AF1 mutation revealed that the median overall survival(mOS)of patients older than 65 years had not been reached.The 1-,2-,and 3-year survival rates were 93.8%,84.4%,and 84.4%,respectively.The mOS of the patients aged≥65 years was 35 months(95%confidence interval[CI]:7.559-62.441),and the 1-,2-,and 3-year survival rates were 66.2%,58.9%,and 29.4%,respectively.The mOS of patients in the aged≥65 years group was significantly lower than that in the aged<65 years group(P<0.05),and no significant difference was observed in median progression-free survival between the two groups.Conclusion The U2AF1 mutation is closely associated with the clinical characteristics of MDS.However,age and the presence of U2AF1 mutation have no significant effect on the total effective and response rates of arsenic-containing TCM compound.Age is a significant factor influencing the prognosis of patients with MDS with U2AF1 mutation.Patients aged 65 years or older have a shorter survival time than those younger than 65 years.
10.Development and reliability and validity test of an ICU patient care difficulty index system based on psychosocial factors
Xiaoshuang ZHAO ; Zhuo YANG ; Hui ZHANG ; Hongli CHI ; Ting NI ; Yan YANG
Modern Clinical Nursing 2025;24(5):56-64
Objective To develop an ICU patient care difficulty index based on psychosocial factors and to evaluate its reliability and validity,thereby providing a comprehensive tool for assessing the difficulties in ICU patient care.Methods Guided by Guarinoni theory,an index system was developed through systematic literature reviews,semi-structured interviews,two rounds of Delphi expert consultation and the analytic hierarchy process.Based on the drafted system,a questionnaire was formulated.The tests for validity and reliability were conducted on 290 patients selected by convenience sampling.Results The finalised ICU patient care difficulty index system was composed of 5 primary indices(the general condition of the patient,disease condition,nursing condition,social support,and organizational characteristics),13 secondary indices and 27 tertiary indices.The Kendall's coefficient of coordination W values were 0.380 and 0.498,respectively,indicating a statistically significant agreement(both P<0.001).The system demonstrated a robust reliability(Cronbach's α=0.896)and a good internal consistency.Validity was confirmed through a scale level-content validity index(S-CVI)of 0.94 and the item level-content validity indices(I-CVI)ranged from 0.87 to 1.00.Structural validity analysis,based on 8 extracted public factors,showed a cumulative variance contribution rate of 66.34%.Conclusion The ICU patient care difficulty index system shows a high reliability and validity,making it a valuable tool for accurately quantification of the difficulty in ICU patient care.This system provides a scientific basis for allocation of ICU nursing resource and performance distribution.

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