OBJECTIVE: To investigate the clinical efficacy and advantages of robot-assisted total knee arthroplasty (TKA) in patients with varus knee osteoarthritis. METHODS: Between October 2022 and June 2023, a total of 59 patients with severe knee osteoarthritis resulting in varus were treated with total knee arthroplasty, aged from 59 to 81 years with an average (70.90±4.63) years, including 19 mals and 40 females. The patients were divided into two groups based on the surgical method used:28 patients in the robot group and 31 patients in the traditional group. The robot group consisted of 8 males and 20 femalse patients, with an average age of (70.54±4.80) years and an average disease duration of (14.89±8.72) months. The traditional group consisted of 11 males and 20 females patients, with an average age of (71.39±4.5) years and an average disease duration of (12.32±6.73) months. The operative duration, amount of bleeding during the operation, postoperative activity time after the operation, hip-knee-ankle angle (HKA), lateral distal femoral angle (LDFA), medial proximal tibial angle (MPTA), and complications were compared between the two groups before and after the operation. Lateral tibia component (LTC), frontal tibia component (FTC), frontal femoral component (FFC) and lateral femoral component (LFC) were measured 6 months after operation Additionally, the degree of knee joint motility, American Knee Society score (KSS), and visual analogue scale(VAS) were compared before and after the operation. RESULTS: All patients had gradeⅠwound healing without any complications, and all patients were followed up for 6 to 8 months, with an average of (6.5±1.5) months. There were no significant differences preoperative imaging evaluation indexes (including HKA, LDFA, and MPTA), preoperative knee mobility, preoperative VAS, and preoperative KSS between the two groups (P>0.05). Comparing the operation time (109.11±7.16) min vs. (83.90±7.85) min, length of the incision (16.60±2.33) cm vs. (14.47±1.41) cm, intraoperative bleeding (106.93±6.15) ml vs. (147.97±7.62) ml, postoperative activity time (17.86±1.84) h vs. (21.77±2.68) h, between the two groups showed statistically significant differences (P<0.05). There were significant differences in FFC (88.96±0.84)° vs. (87.93±1.09)° and LFC (88.57±1.10)° vs. (87.16±1.2)° between the two groups at 6 months after operation (P<0.05). The robotic group 1, 3, 6 months after KSS (75.96±3.96), (81.53±3.78), (84.50±3.29) scores, VAS (3.68±0.67), (2.43±0.79), (0.54±0.64), knee joint mobility (113.32±4.72) °, (123.93±3.99) °, (135.36±2.34) °;Traditional group KSS (73.77±4.18), (76.48±3.60), (80.19±3.28) scores, VAS (4.16±1.04), (3.03±0.75), (1.42±0.76) scores, knee joint mobility (109.19±6.95) °, (119.94±6.08) °, (134.48±2.14) °. Compared to before surgery, both groups showed significant improvement in KSS, VAS and knee mobility during the three follow-up visits (P<0.001). Additionally, postoperative HKA (180.39±1.95)° vs. (178.52±2.23)°, LDFA (89.67±0.63) ° vs. (89.63±0.63)°, and MPTA (89.44±0.55)° vs. (89.29±0.60)° were significantly improved in both groups compared to before surgery (P<0.001). The robotic group had higher KSS than the traditional group at 1, 3, and 6 months after surgery (P<0.05). The robotic group also had lower VAS than the traditional group at 1, 3, and 6 months after surgery (P<0.05). Furthermore, knee mobility was higher in the robotic group than those in the traditional group at 1 and 6 months after surgery (P<0.05), but there was no significant difference between the two groups at 6 months after surgery. CONCLUSION Robot-assisted total knee arthroplasty is a safe and effective method for total knee replacement. The use of robotics can improve the limb axis and prosthesis alignment for patients with preoperative varus deformity, resulting in better clinical and imaging outcomes compared to the conventional group.
Humans ; Female ; Male ; Arthroplasty, Replacement, Knee/methods* ; Aged ; Middle Aged ; Osteoarthritis, Knee/physiopathology* ; Aged, 80 and over ; Robotic Surgical Procedures/methods*

Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 ( MCMDC2 ) genes in 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&E) demonstrated that MCMDC2 deleterious variants caused meiotic arrest in three patients (c.1360G>T, c.1956G>T, and c.685C>T) and hypospermatogenesis in one patient (c.94G>T), as further confirmed through immunofluorescence (IF) staining. The single-cell RNA sequencing data indicated that MCMDC2 was substantially expressed during spermatogenesis. The variants were confirmed as deleterious and responsible for patient infertility through bioinformatics and in vitro experimental analyses. The results revealed four MCMDC2 variants related to NOA, which contributes to the current perception of the function of MCMDC2 in male fertility and presents new perspectives on the genetic etiology of NOA.
Humans ; Male ; Azoospermia/genetics* ; Meiosis/genetics* ; Spermatogenesis/genetics* ; Adult ; Exome Sequencing ; Microtubule-Associated Proteins/genetics* ; Alleles ; Infertility, Male/genetics*

A 14-year-old boy was admitted to the hospital due to a single episode of afebrile seizure and four hours of impaired consciousness. Three months prior to admission, he had a history of bilateral uveitis. Cerebrospinal fluid analysis revealed a mild elevation in white blood cell count. Cranial magnetic resonance imaging and contrast-enhanced scans showed multiple abnormal signals in both cerebral hemispheres, with punctate and nodular enhancement. Susceptibility-weighted imaging revealed multiple punctate hemorrhages within lesions in the bilateral frontal and left parietal lobes, suggestive of vasculitis. Brain biopsy demonstrated inflammatory granulomatous lesions. No secondary causes were identified, and the final diagnosis was granulomatous primary central nervous system vasculitis. The patient's condition improved after treatment with methylprednisolone sodium succinate and mycophenolate mofetil. This report describes a rare case of granulomatous central nervous system vasculitis in a child and provides valuable insights for the diagnosis and treatment of this disease.
Humans ; Male ; Vasculitis, Central Nervous System/diagnosis* ; Adolescent ; Magnetic Resonance Imaging ; Granuloma/diagnosis*

Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

Objective To systematically summarize medication patterns and explore the potential mechanisms of core herbal combinations in treating chronic glomerulonephritis(CGN)based on data mining and network pharmacology,and to provide a reference for clinical treatment strategies.Methods Electronic book databases were searched to screen the CGN prescription from the works of contemporary Xin'an medical practitioners.Frequency statistics,association rule analysis,and clustering algorithms via the traditional Chinese medicine(TCM)Inheritance Support Platform V3.5 were applied to identify high-frequency herbs(frequency of use>10%)and core combinations.Active ingredients and potential targets were predicted using TCMSP,PubChem,and SwissTargetPrediction databases.Disease-related targets were retrieved from OMIM and GeneCards,after obtaining the intersecting targets,followed by protein-protein interaction(PPI)network construction(STRING platform),Cytoscape topological analysis,and GO and KEGG pathway enrichment(DAVID).Results A total of 151 prescriptions related to the treatment of CGN were included,involving 213 flavours of TCM,including 42 varites of high frequency drugs,mainly in the categories of supplementing deficiency,eliminating dampness and diuresis and clearing heat.Theherb properties were mainly cold,warm,and neutral,with flavors of sweet,bitter,and pungent.Herbs primarily targeted the liver,lung,kidney,and spleen meridians.Thecore combination"Astragali Radix,Dioscorea Rhizome,Atractylodis Macrocephalae Rhizoma,Imperata Rhizome,Pyrrosiae Folium,Poria"was identified,with key active ingredients including quercetin,stigmasterol,and β-sitosterol.Core targets involved IL6,EGFR,TNF,AKT1,and PIK3CA,while enriched pathways included PI3K-Akt and AGE-RAGE signaling.Conclusion Contemporary Xin'an practitioners primarily treat CGN by tonifying the spleen,nourishing the kidney,and clearing damp-heat.Thecore herbal combination exerts synergistic effects through multi-target intervention in immune-inflammatory pathways,oxidative stress,and fibrotic pathways,highlighting the holistic therapeutic advantages of TCM formulas via multi-component synergistic regulation and multi-target interactions.This study provides a theoretical foundation for further experimental validation and clinical applications.

Objective To investigate the characteristics of a novel FANCL mutation identified in a patient with premature ovarian insufficiency(POI)and to explore its potential functional impacts in vitro.Methods A novel FANCL heterozygous mutation c.1033G>A(p.Glu345Lys)was screened in a patient with POI using whole exome sequencing(WES),which was found to be inherited from a mother who had undergone early menopause.The authenticity of the mutation was identified by Sanger sequencing and the conserved nature of the mutation site was predicted by software.Overexpressing FANCL mutant and wildtype plasmids were constructed and transiently transfected into HEK293T cell lines,and the effect of the mutation was detected by qPCR,immunofluorescence and Western blot.Results The mutation site of FANCL was located within the Ring domain of FANCL,which was highly conserved across multiple species.The mutant showed no significant change in mRNA expression level,while the protein expression level was significantly down-regulated.In vitro cellular experiments further revealed that the mutation leads to decreased expression levels by reducing protein stability.Conclusion A FANCL c.1033G>A mutation was found and it may cause disease in the POI patient due to decreased protein stability.

IgA vasculitis is a common childhood vasculitis disorder.Its primary clinical manifestation is cutaneous purpura,which is often accompanied by gastrointestinal and joint symptoms.Renal involvement can present as hematuria or proteinuria.This condition is recurrent and protracted,significantly affecting the health of children.The pathogenic factors in pediatric IgA vasculitis are diverse."Wind-toxin damaging collaterals"is presented as the core pathogenesis based on clinical practice and theoretical exploration.This concept essentially entails the latent attack of wind-toxin,collateral damage leading to blood extravasation,and healthy qi deficiency and lingering toxins,with the disease primarily located in the collateral vessels.The disease course is divided into three stages:acute,lingering,and recovery.Clinical practice should adhere to the pathogenesis principles and apply stage-based pattern differentiation and treatment.The acute stage involves wind-toxin attacking collaterals with dampness-heat accumulation.Treatment focuses on dispersing wind,clearing heat,and eliminating dampness to expel wind-toxin from the muscular exterior.The self-prescribed Qufeng Xiaodian Formula is a frequently selected modified formula.The lingering stage features latent wind-toxin in the collaterals and congealed accumulations in the kidney collaterals.Treatment aims to resolve wind-toxin,disperse stasis,and eliminate accumulation to remove densely accumulated wind-toxin.A modified Taohong Siwu Decoction is selected.The recovery stage involves deficient healthy qi with persistent wind assault and lingering toxins.Emphasis should be placed on cultivating the fundamental,strengthening the root,and nourishing yin,as well as supporting the healthy qi to dispel wind and expel toxins,while conditioning the body to prevent recurrence.A modified Guomin Decoction is selected.Clinical application emphasizes the combination of characteristic medicines,such as wind medicines to expel pathogens,insect medicines to identify collaterals,and vine medicines to unblock the meridians,to enhance the effects of identifying wind,resolving toxins,unblocking collaterals,and dispersing congealed accumulations.This study aims to systematically elaborate on the stage-based treatment strategy from the perspective of"wind-toxin damaging collaterals,"providing a theoretical basis and clinical practice reference for the traditional Chinese medicine diagnosis and treatment of pediatric IgA vasculitis.

Objective To use AI-assisted motor dysfunction assessment for quantitative evaluation of motor function in Parkinson's disease(PD)and multiple system atrophy-Parkinsonian type(MSA-P)in order to achieve accurate differential diagnosis.Methods A total of 105 participants aged ≥60 years were consecutively enrolled from the First and Third Medical Centers of Chinese PLA General Hospital between January and September 2024.Based on diagnostic criteria,they were divided into a PD group(48 cases),a MSA-P group(31 cases),and a control group(26 cases).The general information was collected,and the motor function was evaluated with Move-ment Dysfunction Assessment Software in order to assess the diagnostic value of the AI-assisted assessment in differentiating between PD and MSA-P.Results Significantly differences were observed among the three groups in terms of facial expression indicators,bilateral finger tapping frequency,bilateral hand movement frequency,right hand movement amplitude change rate,bilat-eral palm flipping frequency,bilateral toe tapping frequency,freezing load of bilateral toe tapping,bilateral leg flexibility frequency,right leg flexibility amplitude change rate,freezing load of bilat-eral leg flexibility,upright extension angular velocity,turnaround time,forward step frequency,backward step frequency,forward average stride length,backward average stride length,forward average walking speed,backward average walking speed,forward average step width,backward average step width,bilateral postural tremor frequency,bilateral postural tremor maximum am-plitude,bilateral action tremor frequency,bilateral action tremor maximum amplitude,and com-parison of bilateral resting tremor frequency(P＜0.05,P＜0.01).The MSA-P group exhibited significantly lower blink frequency,maximum amplitude and frequency of facial tremors,upright extension angular velocity,and step frequency,while higher ratio of mouth opening duration and longer turnaround time when compared with the PD group(P＜0.05,P＜0.01).The AUC value of the combined nine motor function indicators and the five facial expression indicators in differ-entiating PD from MSA-P was 0.943(95％CI:0.895-0.991,P=0.000)and 0.925(95％CI:0.870-0.981,P=0.000),respectively,both better than that of individual indicators.Conclusion Combi-nation assessment of facial expression,posture,gait with AI assistance can contribute to the dif-ferential diagnosis of PD and MSA-P.

Objective:To introduce a new technique of precise exposure and preservation of membranous semicircular canal under endoscope, and to evaluate the protective effect of this method on hearing preservation of semicircular canal occlusion.Methods:The study included three patients with unilateral refractory Meniere′s disease, including 1 male and 2 females, with hearing stage 4 in 2 cases and stage 3 in 1 case, the average hearing thresholds were 72.5, 82.5 and 48.8 dBHL, respectively. All of them were treated with triple semicircular canal occlusion under continuous irrigating mode of endoscopic ear surgery (CIM-EES) in RenMin Hospital of WuHan University. The surgical procedure involved the following key steps: the bony walls of the three semicircular canals near the ampullae were gradually thinned to expose the blue line. The endoscope was positioned as close as possible to the operating area to obtain a clear, magnified view. A micro hook needle was used to create a window on the bony semicircular canals. The hook needle progressively removed the bony material while preserving the membranous canals, which were clearly visible during the procedure. The bone dust was removed out of the surgical area by the continuous exchanged insuline without the help of suction that can avoid the damage of the membranous semicircular canals caused by aspiration and the open bony canals were precisely filled with bone wax and covered with bone powder to ensure complete occlusion of the three semicircular canals. Postoperative follow-up included regular assessments of vertigo control and hearing preservation.Results:All the 3 patients obtained complete hearing preservation at 6 months after surgery, and the hearing preservation rate was 100%. The average hearing thresholds at 6 months postoperatively were 66.3, 81.3, and 50.0 dBHL, respectively. Postoperatively, all patients experienced horizontal spontaneous nystagmus toward the healthy side on the day of surgery and the first day after surgery. One patient reported complete disappearance of tinnitus, while the other two patients showed no change in tinnitus severity. Postoperative MRI revealed complete occlusion of the three semicircular canals with normal vestibular imaging. At 6 months postoperatively, none of the patients experienced any vertigo attacks, suggesting effective control of vertigo symptoms.Conclusions:Precise Semicircular canal occlusion under CIM-EES is a promising technique for the treatment of intractable vertigo in patients with refractory Meniere′s disease. This method provides clear visualization of the membranous canals, reducing the risk of inner ear damage and preserving hearing function of the patients.

The background of revising GB 19083-2023 Protective face mask for medical use was introduced.GB 19083-2023 was compared with GB 19083-2010 Technical requirements for protective face mask for medical use.The revision points were described in detail involving in dead space,total leakage rate,respiratory resistance,resistance to synthetic blood penetration,microbial indicators,biocompatibility and etc,and the convergence between GB 19083-2023 and international mainstream standards was analyzed.References were provided for the understanding of the standard for the production enterprises and consumers.[Chinese Medical Equipment Journal,2025,46(1):73-77]