Objective To explore the mutation of Y-STR loci in meiotic allelic transmission in a large pedigree. Methods The oral swabs of 163 male individuals were collected froma L in pedigree. Twenty-two Y-STR genetic markers were typed with AGCUY 24 fluorescent detection kit (AGCUY 24 sys-tem), which also contained 16 Y-STR markers included in Y filerTmmultiple amplification kit (Y filer system). The genotyping results of Y-STR loci were compared between each two males in the pedigree. Results There were 20 and 30 kinds of haplotypes obtained with Y filer and AGCUY 24 systems in 163 male individuals fromthe L in pedigree, respectively. The rates referred to haplotype differences (RRHD) of these two typing systems between male pairs were 0.910 5 and 0.922 7, respectively. The average number of marker differences were 6.582 1 and 9.824 8, respectively. The RRHDincreased along with the incidents of meiosis. Conclusion Y-STR mutation leads to different Y-STR haplotypes among the male members in a paternal pedigree and the rate of difference increases along with the incidents of meiosis.

Objective T o establish a query table of IB S critical value and identification pow er for the detection system s w ith different num bers of ST R loci under different false judgm ent standards. Methods Sam ples of 267 pairs of full siblings and 360 pairs of unrelated individuals w ere collected and 19 auto-som al ST R loci w ere genotyped by G oldeneyeTM 20A system . T he full siblings w ere determ ined using IB S scoring m ethod according to the 'R egulation for biological full sibling testing'. T he critical values and identification pow er for the detection system s w ith different num bers of ST R loci under different false judgm ent standards w ere calculated by theoretical m ethods. Results A ccording to the form al IB S scoring criteria, the identification pow er of full siblings and unrelated individuals w as 0.7640 and the rate of false judgm ent w as 0. T he results of theoretical calculation w ere consistent w ith that of sam ple observation. T he query table of IB S critical value for identification of full sibling detection system s w ith different num bers of ST R loci w as successfully established. Conclusion T he IB S scoring m ethod defined by the regulation has high detection efficiency and low false judgm ent rate, w hich provides a relatively conservative result. T he query table of IB S critical value for identification of full sibling detection sys-tem s w ith different num bers of ST R loci provides an im portant reference data for the result judgm ent of full sibling testing and ow ns a considerable practical value.

Objective To investigate the genetic polymorphism of 90 autosomal SNPs in Guangdong Han population and assess their value in forensic medicine based on next generation sequencing. Methods Blood samples were collected from 100 unrelated individuals. Through using AutoMate ExpressTM Nucleic Acid Extraction System, DNA was extracted. HID-Ion AmpliSeq? Identity Panel was applied for library preparation while Ion OneTouch? 2 system (OT2) was employed for emulsion PCR (emPCR). NGS was performed on the Ion PGM? system. Sequencing results were analysed using the Torrent Suite v4.4.2 with the HID_SNP_Genotyper v4.3.1 plugin. The forensic parameters were calculated and compared with GoldeneyeTM 20A systems. Results According to the Bonferroni correction, the genotypes of 90 autosomal SNPs were in accordance with Hardy-Weinberg equilibrium and no linkage disequilibrium was observed. The average Ho of 90 autosomal SNPs was 0.423, the average DP was 0.560 and the average PIC was 0.329. The CDP (cumulative power of discrimination) of 90 autosomal SNPs system was 1-1.20×10-33, which was greater than that of 20A System. The CPEtri (cumulative excluding probability of trio paternity) was 0.999 999 911 and the CPEduo (cumulative excluding probability of duo paternity) was 0.999 882. Both of these two parameters were below that of 20A System. Conclusion It suggested that the 90 autosomal SNPs System can be applied to forensic individual discrimination and trio paternity testing independently. Besides, it is supposed to be used in the duo paternity testing as an assistant measure.

Objective To explore the mechanism of lupinol on the proliferation,apoptosis,migration and invasion of lung cancer cells through regulating Notch signaling pathway.Methods Lung cancer cells A549 were cultured in vitro,and the cells were treated with lupeol at concentrations of 0,15,30,and 60 mg/L,with 0 mg/L being the control group and the rese being the lupeol dosage groups,the cells were treated with lupinol at the concentration of 60 mg/L and Notch pathway inhibitor DAPT at the concentration of 10 μmol/L,which was recorded as the lupeol+DAPT group.Cell proliferation changes were detected by MTT;cell apoptosis was detected by flow cytometry;cell migration and invasion were detected by Transwell;protein expression of PCNA,Bcl-2,N-cadherin,E-cadherin,Notch-1 and Hes-1 were detected by Western blot.Results 15,30,60 mg/L lupeol group can significantly inhibit the cell viability,the number of migration cells and invading cells of lung cancer cells,significantly increase the rate of cell apoptosis,and reduce PCNA,N-cadherin,Bcl-2,Hes-1 and Notch-1 expression,increase E-cadherin expression(P＜0.05).Compared with the lupeol group,the lupeol+DAPT group significantly reduced cell viability,the number of migrating cells and invaded cells,increased apoptosis rate,decreased PCNA,Bcl-2,Hes-1,Notch-1 and N-cadherin protein expression,and increased E-cadherin protein expression(P＜0.05).Conclusion Lupinol may inhibit the invasion,migration and proliferation of lung cancer cells through Notch signaling pathway,and induce apoptosis.

Objective:To explore the medication law of gilles de la Tourette syndrome (TS) in ancient TCM books through data mining.Methods:TS related disease information was searched by searching Chinese Medicine Collection Database 4.0 and Chinese Medical Classics 5.0 about liver wind, convulsion, infantile convulsion, slow infantile convulsion, Chi Zong, Jin Ti Rou Yu, chronic spleen wind. Excel 2022 software was used to input the main symptoms, etiology and pathogenesis, treatment methods and prescriptions of each disease, and the frequency, property and taste, meridian tropism and efficacy of medication were analyzed. Gephi 0.9.2 software was used to analyze the complex network of Chinese materia medica data to find out the core drugs. SPSS Statistic 25.0 software was used for clustering analysis of high-frequency Chinese materia medica (top 50 in frequency ). SPSS Modeler 14.2 software was used to analyze the association rules of high-frequency Chinese materia medica based on Apriori algorithm. Results:Totally 692 ancient prescriptions were included, involving 436 kinds of Chinese materia medica. The top five in terms of frequency were: Scorpio, Cinnabaris, Moschus, Typhonii Rhizoma, Gastrodiae Rhizoma appeared the most frequently. The main property was cold, the main taste was pungent, and mainly into the liver, spleen, and heart meridians; the core drugs were Bombyx Batryticatus, Pinelliae Rhizoma, and Glycyrrhizae Radix et Rhizoma. Clustering analysis could be divided into 8 categories. Correlation analysis showed that Scorpio→Bombyx mori Linnaeus and Cinnabaris had the highest support, while Cinnabaris→Bovis Calculus→Moschus→Scorpio had the highest confidence.Conclusions:Ancient doctors believed that the disease location of TS-related diseases are mainly liver, heart, spleen and kidney, and the pathogenic factors were mainly wind, fire, phlegm, blood stasis and deficiency. The insect snakes used in prescription drugs are used to search for wind and eliminate pathogenic factors, the epigraphy is used to calm the nerves and calm the wind, and the herbs are used to soothe the wind, clear heat, calm the liver and dispel phlegm.

Objective:To analyze the gene mutation type and clinical phenotype of patients with PRRT2 mutation, and explore their relations with prognosis. Methods:A total of 18 patients with PRRT2 gene mutation (1 patient with novel mutation in PRRT2 gene, and 17 probands in 17 families with PRRT2 gene mutation) were enrolled in Department of Neurology, First Affiliated Hospital of Air Force Medical University from January 2018 to July 2023. Serum of the patients was collected for whole exon sequencing, and mutation sites and types of PRRT2 gene were analyzed. SWISS-MODEL website was used to predict the changes in protein structure caused by PRRT2 gene mutation. The relations of gene mutation type and clinical phenotype with prognosis of these patients were analyzed. Results:(1) All 18 patients with PRRT2 gene mutation were heterozygous mutation, including 12 frameshift mutations, 5 missense mutations, and 1 integer mutation. The clinical phenotype included benign familial infantile epilepsy (BFIE) in 5 patients, epilepsy in 6 patients, exercise-induced paroxysmal kinesigenic dyskinesia (PKD) in 5 patients, and infantile convulsion and choreoathetosis (ICCA) in 2 patients. A total of 8 mutation sites were found in 18 patients with PRRT2 gene mutation, of which 3 mutation sites have been reported, and 5 mutation sites have not been reported, including c.647(exon2)C>A, c.647(exon2)C>G, c.170(exon2)delC, c.981(exon3)C>G, and lossl(EXON: 2)(all). (2) Eighteen patients mainly accepted oxcarbazepine, levetiracetam, and sodium valproate in combination or monotherapy. Among them, 5 BFIE patients, 2 ICCA patients and 3 epilepsy patients were seizure-free after treatment. PKD patients did not respond well to oxcarbazepine. (3) Three frameshift mutations (mutation sites: c.649 [exon2]_c.650 [exon2] insC, c.640 [exon2]_c.641 [exon2] insC, and c.170 [exon2] delC) led to premature termination of protein translation, resulting in significant changes in protein structure. Four missense mutations (mutation sites: c.640[exo2]G>C, c.647[exon2]C>A, c.647[exon2]C>G, and c.981[exon3]C>G) had little effect on protein structure changes. No relation was found between changes of protein structure caused by different mutation types and prognosis. Conclusion:PRRT2 gene mutation patients with clinical phenotypes of BFIE and ICCA have good prognosis, but the mutation type is not related with the prognosis of patients.

Objective:To investigate the rates of low disease activity and clinical remission in patients with systemic lupus erythematosus(SLE)in a real-world setting,and to analyze the related factors of low disease activity and clinical remission.Methods:One thousand patients with SLE were enrolled from 11 teaching hospitals.Demographic,clinical and laboratory data,as well as treatment regimes were collec-ted by self-completed questionnaire.The rates of low disease activity and remission were calculated based on the lupus low disease activity state(LLDAS)and definitions of remission in SLE(DORIS).Charac-teristics of patients with LLDAS and DORIS were analyzed.Multivariate Logistic regression analysis was used to evaluate the related factors of LLDAS and DORIS remission.Results:20.7％of patients met the criteria of LLDAS,while 10.4％of patients achieved remission defined by DORIS.Patients who met LLDAS or DORIS remission had significantly higher proportion of patients with high income and longer disease duration,compared with non-remission group.Moreover,the rates of anemia,creatinine eleva-tion,increased erythrocyte sedimentation rate(ESR)and hypoalbuminemia was significantly lower in the LLDAS or DORIS group than in the non-remission group.Patients who received hydroxychloroquine for more than 12 months or immunosuppressant therapy for no less than 6 months earned higher rates of LLDAS and DORIS remission.The results of Logistic regression analysis showed that increased ESR,positive anti-dsDNA antibodies,low level of complement(C3 and C4),proteinuria,low household in-come were negatively related with LLDAS and DORIS remission.However,hydroxychloroquine usage for longer than 12 months were positively related with LLDAS and DORIS remission.Conclusion:LLDAS and DORIS remission of SLE patients remain to be improved.Treatment-to-target strategy and standar-dized application of hydroxychloroquine and immunosuppressants in SLE are recommended.

Objective:To trace and identify the source and the transmission vector of a nosocomial infection event caused by hypervirulent Acinetobacter baumannii. Methods:Nine strains of carbapenem-resistant Acinetobacter baumannii (CRAB) isolated from respiratory general ward and respiratory intensive care unit in Shenzhen People’s Hospital from July to August 2018 were collected. Environmental specimens such as ward environmental objects and medical staff’s hands were also collected. Vitek 2 was used for identification of bacterial species and drug susceptibility testing; Illuinam HiSeq 2500 platform, Staramr, Ridom SeqSphere+ were used for whole genome sequencing, drug resistance gene detection and multi-locus sequence typing (MLST); and IQ-Tree software, BEAST2 software package and SCOTTI software were used to construct phylogenetic tree and propagation path map. At the same time, the virulence of pathogenic bacteria was detected by mouse pneumonia model. Results:The 9 isolated CRAB strains were all ST2 type, all carried the carbapenem-resistant gene blaOXA-23, and the capsular types were KL49, KL3, KL77 and KL2, respectively. One of the CRAB strains isolated from removable ventilator screen was ST2 type and KL49 type capsule. Phylogenetic tree analysis showed that the environmental isolates were located in the same branch as 5 CRABs, and the transmission path map showed that these 5 CRABs were also located in the same transmission chain. Five strains of CRAB were involved in four lethal cases, and in vivo experiments in mice confirmed that the strains causing lethal infection had a hypervirulent phenotype. Conclusions:Highly virulent Acinetobacter baumannii can colonize the surface of mobile medical equipment, and sharing these equipment may lead to nosocomial spread of pathogens. The use of new propagation path analysis tools has certain reference significance for the investigation of propagation events.

Objective:To understand the epidemiological characteristics of infectious diarrhea pathogens in Pudong New Areas of Shanghai from 2013 to 2017 to provide evidence for control and prevention of the disease.Methods:From Jan 2013 to Dec 2017, active surveillance program on diarrhea was conducted in 14 sentinel hospitals (three tertiary-level and nine secondary-level, and two primary-level hospitals) in Pudong New Areas of Shanghai, based on location, catchment areas and number of patients. All recruited outpatients were interviewed in hospitals, using a standard questionnaire. Stool specimens were collected and tested for five viral and eight bacterial pathogens.Results:A total of 9 301 cases with infectious diarrhea were included, and the overall positive rate was 55.7 % (5 179). Positive rates of single virus, single bacteria and mixed infections were 26.7 % (2 481), 17.0 % (1 579) and 12.0 % (1 119), respectively. For single infection, the most commonly detected viruses appeared as norovirus (15.4 %, 1 428/9 301) and rotavirus (7.2 %, 667/9 301). The most commonly detected bacteria were diarrheagenic Escherichia coli (6.7 %, 619/9 301) and non-typhoid Salmonella (3.3 %, 305/9 301). The most common mixed infections were caused by virus-bacteria (4.9 %, 459/9 301). Norovirus (17.0 %, 838/4 938) showed the highest positive rates, followed by Escherichia coli (7.2 %, 354/4 938), both seen in the age group of 20-59 years old group. Rotavirus (9.4 %, 178/1 896) and non-typhoid Salmonella (4.9 %, 93/1 896) were the most common pathogens found in the age group of 0-4 years old. The prevalence of norovirus peaked both in spring and autumn. The other peaks were seen as: Rotavirus in winter, diarrheagenic Escherichia coli in summer and non-typhoid Salmonella in summer. Conclusions:Our data showed that the positive rates of infectious diarrhea pathogens were high in Pudong New Areas of Shanghai from 2013 to 2017. The dominant pathogens would include norovirus, rotavirus and diarrheagenic Escherichia coli but with differenct distributions in age groups. Obvious seasonal patterns were also observed.

As one of the pathogenic mechanisms contained in The Inner Canon of Yellow Emperor （《黄帝内经》）， “disease with latent pathogen induced by a new pathogen” means that the induced new pathogen resulted to a combination of the latent previous pathogen and the new pathogen， which caused the disease. Based on this， it is believed that the change of “nodule-cancer transformation” of pulmonary nodules is actually based on the deficiency of original qi， and the new pathogen induces the latent pathogens like phlegm coagulation， qi stagnation， blood stasis， toxicity， so healthy qi can not drive the pathogens out， and the long-time detention generated into cancerous turbidity， and deve-loped into cancerous tumour at the end. Therefore， based on the three-stage treatment of unformed cancer， dense cancerous toxin， and developed cancer， the clinical practice applied six methods of clearing， expelling， dissipating， tonifying， harmonizing， and transforming， taking into account both the manifestation and root cause， moving the treatment window of pulmonary nodules forward， attacking the pathogens when the toxin was not yet overbearing， supporting the healthy qi before declining， delaying the process of nodules-cancer transformation， and providing ideas for the prevention and treatment of pulmonary nodules “nodule-cancer transformation” in traditional Chinese medicine.