OBJECTIVE: To explore the clinical features and genetic basis of a male patient with Kennedy disease(KD) presenting as secondary infertility. METHODS: A male patient who had presented at Yantai Yuhuangding Hospital in August 2023 for secondary infertility for 5 years was selected as the study subject. Clinical data, laboratory findings, and auxiliary examination of the patient were collected. Peripheral blood samples were obtained from the patient and his family members. Following DNA extraction, whole-exome sequencing (WES) was carried out. Pathogenicity of candidate variant was predicted by bioinformatics analysis. Fluorescence probe PCR-capillary electrophoresis was employed to analyze the trinucleotide CAG repeat sequence variation in the AR gene to rule out dynamic mutation. This study was approved by the Ethics Committee of Yantai Yuhuangding Hospital (Ethics No.: 2024-697). RESULTS: The patient had presented with non-obstructive azoospermia and elevated androgen sensitivity index. Ultrasound scan indicated small testicular volume and seminal vesicle atrophy. WES and bioinformatics analysis revealed abnormal amplification in the patient's AR gene. Fluorescence probe PCR and capillary electrophoresis confirmed that both the proband and his nephew had harbored 52 CAG trinucleotide repeats in exon 1 of the AR gene, confirming the diagnosis of KD. The proband's mother, elder sister, and daughter were identified as carriers of the variant, while his second elder sister did not carry the mutation. CONCLUSION As a rare X-linked recessive genetic disease, KD mainly manifests with muscle weakness, myasthenia gravis and myofascial tremor, while cases with infertility and non-obstructive azoospermia as the initial symptoms are rare and can be easily missed. Diagnosis made by genetic testing needs to be taken seriously by the clinicians.
Humans ; Male ; Bulbo-Spinal Atrophy, X-Linked/diagnosis* ; Adult ; Infertility, Male/genetics* ; Receptors, Androgen/genetics* ; Exome Sequencing ; Mutation ; Pedigree ; Trinucleotide Repeats

Based on whole-genome identification of the TPS gene family in Perilla frutescens and screening, cloning, bioinformatics, and expression analysis of the synthetic enzyme for the insect-resistant component germacrene D, this study lays the foundation for understanding the biological function of the TPS gene family and the insect resistance mechanism in P. frutescens. This study used bioinformatics tools to identify the TPS gene family of P. frutescens based on its whole genome and predicted the physicochemical properties, systematic classification, and promoter cis-elements of the proteins. The relative content of germacrene D was detected in both normal and insect-infested leaves of P. frutescens, and the germacrene D synthase was screened and isolated. Gene cloning, bioinformatics analysis, and expression profiling were then performed. The results showed that a total of 99 TPS genes were identified in the genome, which were classified into the TPS-a, TPS-b, TPS-c, TPS-e/f, and TPS-g subfamilies. Conserved motif analysis showed that the TPS in P. frutescens has conserved structural characteristics within the same subfamily. Promoter cis-element analysis predicted the presence of light-responsive elements, multiple hormone-responsive elements, and stress-responsive elements in the TPS family of P. frutescens. Transcriptome data revealed that most of the TPS genes in P. frutescens were highly expressed in the leaves. GC-MS analysis showed that the relative content of germacrene D significantly increased in insect-damaged leaves, suggesting that it may act as an insect-resistant component. The germacrene D synthase gene was screened through homologous protein binding gene expression and was found to belong to the TPS-a subfamily, encoding a 64.89 kDa protein. This protein was hydrophilic, lacked a transmembrane structure and signal peptide, and was predominantly expressed in leaves, with significantly higher expression in insect-damaged leaves compared to normal leaves. In vitro expression results showed that germacrene D synthase tended to form inclusion bodies. Molecular docking showed that farnesyl pyrophosphate(FPP) fell into the active pocket of the protein and interacted strongly with six active sites. This study provides a foundation for further research on the biological functions of the TPS gene family in P. frutescens and the molecular mechanisms underlying its insect resistance.
Perilla frutescens/chemistry* ; Plant Proteins/chemistry* ; Multigene Family ; Sesquiterpenes, Germacrane/metabolism* ; Alkyl and Aryl Transferases/chemistry* ; Phylogeny ; Gene Expression Regulation, Plant

Obejective To explore whether it is possible to detect the 123I-prostate-specific membrane antigen(PSMA)radiation value of the puncture tissue during prostate biopsy to achieve real-time,rapid,and accurate identification of benign and malignant prostate tissues,so as to improve the current clinical biopsy strategy and achieve accurate diagnosis of prostate cancer during operation with fewer puncture needles.Method In this prospective,diagnostic trial,we included 29 patients with suspected prostate cancer.All patients underwent transperineal biopsy guided by ultrasound within 24 hours after injection of 123I-PSMA,a total of 435 punctures were performed.The radiation value of punctured tissue was measured in real-time with a gamma counter.Pearson test is used to correlate radiation value with histopathology.Result The median radiation value of prostate cancer tissue(1 906.50 cpm)was significantly higher than that of benign prostate tissue(415.00 cpm).The optimal cut-off value for distinguishing benign and malignant prostate tissues was 828.50 cpm.The median radiation value of clinically significant prostate cancer tissue(2 652.50 cpm)was significantly higher than that of clinically insignificant prostate cancer(1 386.00 cpm).The optimal cut-off value for distinguishing clinically significant and clinically insignificant prostate cancer tissues was 1 767.00 cpm.In additional,there was a significant positive correlation between the radiation value of puncture tissue and ISUP pathological grade(r=0.834).Conclusion It is preliminarily confirmed that detection of 123I-PSMA radiation value of prostate puncture tissue can realize real-time,rapid and accurate identification of benign and malignant prostate tissues during operation.

Creutzfeldt-Jakob disease(CJD)is a rapidly progressive and fatal neurodegenerative disorder caused by prions,with certain infectivity and iatrogenic transmission risks.With the rapid progress and application of new dia-gnostic biomarkers and detection methods,as well as the construction and improvement of surveillance and reporting systems,the detection of CJD in patients domestically and internationally has shown an increasing trend year by year.Due to its long incubation period and heterogeneity of early symptoms,early identification and diagnosis of the disease is difficult,increasing the risk of transmission within medical institutions.Currently,there is a lack of con-sensus on the infection prevention and control of CJD.In order to timely identify and diagnose CJD as well as effec-tively block its transmission in medical institutions,this consensus summarizes 15 clinical concerns and formulates 24 specific recommendations based on the latest domestic and international research findings and clinical evidence,as well as combines with clinical practice,aiming to standardize healthcare-associated infection prevention and control measures for CJD and reduce its transmission risk in medical institutions.

Objective:To explore the association between the use of tetracyclines during pregnancy and congenital malformations, with the aim of providing evidence-based guidance for the rational use of antibiotics during pregnancy.Methods:Data from the U.S. Food and Drug Administration Adverse Event Reporting System (FAERS) and the Canada Vigilance Adverse Reaction (CVAR) database from January 2015 to September 2024 were collected. Five methods including Tree-based scan statistic (TreeScan), proportional reporting ratio (PRR), reporting odds ratio (ROR), the UK Medicines and Healthcare Products Regulatory Agency (MHRA) comprehensive standard, and the Bayesian confidence propagation neural network (BCPNN) were used to detect signals of risk for congenital malformations in offspring following maternal use of tetracyclines during pregnancy. A signal that met the threshold criteria of all above 5 methods was considered as a risk signal. Based on population-based cohort of the drug exposures and adverse pregnancy outcomes (DEEP) data from January 2013 to December 2021 in Xiamen City, propensity score matching (PSM)-based Poisson regression was applied to evaluate the association between the first-trimester tetracyclines exposure and congenital malformations in offspring. Adjusted relative risk (a RR) and its 95% confidence interval ( CI) were calculated. Sensitivity analysis was conducted to validate the reliability of the results. Results:A total of 304 098 reports of adverse events during pregnancy were obtained from the FAERS and CVAR databases. Among them, 5 028 reports were related to tetracyclines, including 1 026 reports of congenital malformations in offspring, involving congenital malformations of musculoskeletal system, other digestive system, and other congenital malformations. Signal detection results suggested that tetracyclines may be a risk signal for above congenital malformations in offspring. The DEEP data included 411 936 pregnant women. After PSM, 240 pregnant women exposed to tetracyclines were included. The results showed no significant association between the first-trimester tetracyclines exposure and congenital malformations in offspring (a RR=0.75, 95% CI: 0.26-2.17), sensitivity analysis also showed no correlation. Conclusions:Data mining from the FAERS and CVAR databases suggests a potential association between tetracyclines use during pregnancy and congenital malformations in offspring. However, the DEEP data study shows no significant correlation.

Objective:To introduce the clinical application of "page-turning" superior pancreatic lymph node dissection in laparoscopic D2 radical gastrectomy for gastric cancer.Methods:Patients who were confirmed to have adenocarcinoma by preoperative gastroscopy and pathological biopsy, with tumor staging evaluated by imaging as cT1~4aN0~3M0, without neoadjuvant therapy, and without absolute surgical contraindications, underwent laparoscopic radical gastrectomy for gastric cancer with "page-turning" superior pancreatic lymph node dissection. The "page-turning" superior pancreatic lymph node dissection was performed in four steps: (1) Expose the posterior gastric mesentery and dissect No.11p lymph nodes; (2) Expose the left gastric mesentery and dissect No.7, No.8a and No.9 lymph nodes; (3) Expose the right gastric mesentery and dissect No.5 lymph nodes; (4) Expose the left edge of the portal vein and dissect No.12a lymph nodes.Results:From April 2018 to October 2024, 112 patients with gastric cancer underwent laparoscopic D2 radical gastrectomy with "page-turning" superior pancreatic lymph node dissection, including 21 cases in the First Affiliated Hospital of Guangzhou University of Chinese Medicine, 78 cases in the Second Affiliated Hospital of Guangzhou University of Chinese Medicine, and 13 cases in the Department of Gastrointestinal Surgery, Jilin Provincial People's Hospital. The TNM staging of all patients was as follows: 31 cases in stage Ⅰ, 24 cases in stage Ⅱ, and 57 cases in stage Ⅲ; 62 cases of differentiated adenocarcinoma and 50 cases of undifferentiated adenocarcinoma; the median length of tumors was 3.8 cm. All patients successfully completed the operation without conversion to open surgery, no intraoperative massive hemorrhage or postoperative death. The median total number of lymph nodes dissected in all patients was 32, and the median number of positive lymph nodes was 4.5. The overall postoperative complication rate was 5.4% (6/112), all of which were Clavien-Dindo grade Ⅱ, including pulmonary infection, pleural effusion, and incisional infection, all cured by symptomatic treatment. The median follow-up was 41.8 (2-78) months, with 7 cases lost to follow-up. During the follow-up period, 27 cases (25.7%) had tumor recurrence and 16 cases (15.2%) died.Conclusions:The "page-turning" superior pancreatic lymph node dissection technique is safe and feasible in laparoscopic radical gastrectomy for gastric cancer.

Objective To investigate the brain voxel-mirrored homotopic connectivity(VMHC)alterations in patients with ves-tibular migraine(VM)by using resting-state functional magnetic resonance imaging(rs-fMRI).Methods The rs-fMRI data of 30 VM patients(VM group)and 30 healthy volunteers(control group)were prospectively collected.The brain VMHC values in all subjects were calculated and the differences between the two groups were compared.The correlations between VMHC values of significant brain regions and clinical scale scores were analyzed in the VM group.Results Compared with the control group,the VMHC values of the cerebellum region 6,orbital inferior frontal gyrus,insula,superior temporal gyrus and postcentral gyrus in the VM group were all decreased[cluster-level family wise error(FWE)corrected,Pvoxel-level<0.001,Pcluster-level<0.05].In the VM group,the VMHC values of the postcentral gyrus were negatively correlated with dizziness handicap inventory(DHI)score(r=-0.383,P=0.037).Additionally,the VMHC values of the insula were negatively correlated with headache impact test-6(HIT-6)score(r=-0.430,P=0.018).Conclusion VM patients have altered VMHC in certain brain regions,indicating related dysfunctions in vestibule,pain,hearing and emotion.

Objective To analyze the status of 2 649 suspected pertussis patients in Xi'an and the changes in laboratory diagnostic indi-cators.Methods 2 649 patients with suspected pertussis who visited the Second Affiliated Hospital of Xi'an Jiaotong University from June 2023 to May 2025 were collected as the research subjects.Nasopharyngeal swabs were collected from the patients,and pertussis nucleic acid was detected by polymerase chain reaction(PCR)-fluorescence probe method.Laboratory diagnostic indicators were an-alyzed.Results Among the 2 649 samples tested,250 were positive for pertussis nucleic acid,with a positive detection rate of 9.44%.The detection rate in male patients was 9.37%(127/1 356),and in female patients was 9.51%(123/1 293),with difference no was statis-tically significant between the two groups(χ2=0.019,P=0.894).There was a statistically significant difference in the positive detection rate among different age groups(χ2=46.473,P<0.05),with the highest positive detection rate in the 7～19 age group(14.98%).The prevalence of pertussis showed a seasonal characteristic with a peak from April to September.21.2%(53/250)of the positive patients were mixed infections.In the 1～14 age group,the white blood cell count(WBC),lymphocyte percentage(LYMP%),and lymphocyte count(LYMP#)in the pertussis infection group were higher than those in the Mycoplasma pneumoniae(MP)infection group(t=10.179,5.819,8.614)and the Respiratory syncytial virus(RSV)infection group(t=16.570,2.618,7.185),and the differences were statistically significant(all P<0.01),respectively.In the＞14 age group,the LYMP%and LYMP#in the pertussis infection group were higher than those in the MP infection group(t=3.275,2.319)and the RSV infection group(t=2.401,4.617),and the differences were statistically significant(all P<0.05),respectively.Conclusion The pertussis infection status in Xi'an area from 2023 to 2025 shows significant char-acteristics in terms of age,season and laboratory test results.It is necessary to further improve the pertussis surveillance system in this area,optimize the clinical diagnosis and treatment process and strengthen the vaccination work of pertussis vaccine.

OBJECTIVE: To investigate the spatiotemporal patterns and socioeconomic factors influencing the incidence of tuberculosis (TB) in the Guangdong Province between 2010 and 2019. METHOD: Spatial and temporal variations in TB incidence were mapped using heat maps and hierarchical clustering. Socioenvironmental influencing factors were evaluated using a Bayesian spatiotemporal conditional autoregressive (ST-CAR) model. RESULTS: Annual incidence of TB in Guangdong decreased from 91.85/100,000 in 2010 to 53.06/100,000 in 2019. Spatial hotspots were found in northeastern Guangdong, particularly in Heyuan, Shanwei, and Shantou, while Shenzhen, Dongguan, and Foshan had the lowest rates in the Pearl River Delta. The ST-CAR model showed that the TB risk was lower with higher per capita Gross Domestic Product (GDP) [Relative Risk ( RR), 0.91; 95% Confidence Interval ( CI): 0.86-0.98], more the ratio of licensed physicians and physician ( RR, 0.94; 95% CI: 0.90-0.98), and higher per capita public expenditure ( RR, 0.94; 95% CI: 0.90-0.97), with a marginal effect of population density ( RR, 0.86; 95% CI: 0.86-1.00). CONCLUSION The incidence of TB in Guangdong varies spatially and temporally. Areas with poor economic conditions and insufficient healthcare resources are at an increased risk of TB infection. Strategies focusing on equitable health resource distribution and economic development are the key to TB control.
Humans ; China/epidemiology* ; Incidence ; Bayes Theorem ; Spatio-Temporal Analysis ; Tuberculosis/epidemiology* ; Socioeconomic Factors

OBJECTIVE: To observe the clinical symptoms and MRI outcomes of patients with ruptured lumbar disc herniation(LDH) through a multicenter randomized controlled study, and to evaluate the clinical efficacy and safety of Yiqi Huoxue formula() in the treatment of this disease. METHODS: A total of 160 outpatients and inpatients with ruptured LDH admitted to 4 medical centers from January 2023 to June 2023 were selected and randomly divided into the Yiqi Huoxue formula group and the control group, with 80 patients in each group. In the Yiqi Huoxue formula group, there were 43 males and 37 females, with an age of (41.03±9.56) years and a disease duration of (10.45±25.37) days, and the patients were treated with Yiqi Huoxue formula. In the control group, there were 34 males and 46 females, with an age of (42.14±8.73) years and a disease duration of (11.31±21.14) days;during the acute phase, patients in this group could take celecoxib capsules orally, and methylcobalamin orally at the same time. The Japanese Orthopaedic Association (JOA) score, Oswestry disability index (ODI), changes in the volume of herniated disc tissue on MRI, herniation rate, and absorption rate were recorded at the time of enrollment and during follow-ups at the 3rd, 6th, and 12th month after treatment. RESULTS: A total of 156 patients completed the clinical follow-up, and 4 patients withdrew midway. The clinical symptoms of all patients who completed the study were relieved to varying degrees, and reabsorption of herniated disc tissue was observed in all patients in the Yiqi Huoxue formula group after treatment. For the JOA score:in the Yiqi Huoxue formula group, it was (10.73±2.76) points before treatment and (24.65±2.19) points at the 12th month after treatment;in the control group, it was (11.01±1.20) points before treatment and (17.07±3.26) points at the 12th month after treatment. For the ODI score:in the Yiqi Huoxue formula group, it was (26.21±3.55) points before treatment and (5.65±2.19) points at the 12th month after treatment;in the control group, it was (27.92±2.51) points before treatment and (9.09±2.15) points at the 12th month after treatment. At the 12th month after treatment, the JOA and ODI scores of both groups were better than those before treatment, and the scores of the Yiqi Huoxue formula group were better than those of the control group, with statistically significant differences (P<0.05). In terms of the herniated disc volume and herniation rate on MRI, the Yiqi Huoxue formula group was superior to the control group, with statistically significant differences(P<0.05). Reabsorption occurred in 56.96%(45/79) of patients in the Yiqi Huoxue formula group, which was significantly higher than the 37.66%(29/77) in the control group. CONCLUSION After treatment with Yiqi Huoxue formula, patients with ruptured LDH show significant improvement in clinical symptoms and a marked reduction in the volume of herniated discs. During the follow-up period, no obvious adverse drug reactions are observed in patients, and no recurrence of symptoms is found at the last follow-up, indicating that the formula has safe and reliable efficacy.
Humans ; Male ; Female ; Intervertebral Disc Displacement/drug therapy* ; Adult ; Drugs, Chinese Herbal/adverse effects* ; Middle Aged ; Lumbar Vertebrae