OBJECTIVE: To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism. METHODS: A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01). RESULTS: No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360). CONCLUSION For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans ; Female ; Mosaicism ; Pregnancy ; Karyotyping/methods* ; Artificial Intelligence ; Prenatal Diagnosis/methods* ; Adult ; Retrospective Studies ; Chromosome Disorders/genetics* ; Amniocentesis

This study aims to inquire about the fluctuations of ubiquitin-specific protease 47 on neu-roblastoma cells(Neuro-2a,N2a)infected by rabies virus(RABV).USP47 expression levels were detected after RABV infection in N2a cells through RT-qPCR,protein immunoblotting,and virus titer determination.The levels of RABV nucleoprotein and phosphoprotein gene and protein,and RABV titers in supernatants were analyzed during overexpression and knockdown of USP47.The results showed that RABV infection increased USP47 gene level in N2a cells.When overexpression of USP47,the levels of RABV N and P were increased,and the virus titers were also improved.Mo-reover,the level of interleukin-6(IL-6)genes decreased.Knocking down USP47 expression reduced levels of RABV N and P genes and proteins,lowered the virus titer,and elevated the IL-6 gene lev-el.The results suggest that USP47 promotes RABV infection and suppresses IL-6 expression.This finding lays the foundation for further investigation into the molecular mechanisms by which USP47 regulates RABV infection.

This study aims to inquire about the fluctuations of ubiquitin-specific protease 47 on neu-roblastoma cells(Neuro-2a,N2a)infected by rabies virus(RABV).USP47 expression levels were detected after RABV infection in N2a cells through RT-qPCR,protein immunoblotting,and virus titer determination.The levels of RABV nucleoprotein and phosphoprotein gene and protein,and RABV titers in supernatants were analyzed during overexpression and knockdown of USP47.The results showed that RABV infection increased USP47 gene level in N2a cells.When overexpression of USP47,the levels of RABV N and P were increased,and the virus titers were also improved.Mo-reover,the level of interleukin-6(IL-6)genes decreased.Knocking down USP47 expression reduced levels of RABV N and P genes and proteins,lowered the virus titer,and elevated the IL-6 gene lev-el.The results suggest that USP47 promotes RABV infection and suppresses IL-6 expression.This finding lays the foundation for further investigation into the molecular mechanisms by which USP47 regulates RABV infection.

Chronic myeloid leukemia (CML) with e6a2 transcript type is very rare in clinic,which is usually related to disease aggressiveness. Its clinical characteristics and relationship with tyrosine kinase inhibitor efficacy are still unclear. In this paper, the clinical characteristics and related laboratory tests of a patient with e6a2 fusion gene positive CML characterized by multiple osteolytic bone destruction throughout the body and eosinophil infiltration in gastrointestinal tract, lymph nodes and other organs were retrospectively analyzed, and the relevant literature was reviewed. The patient was Ph chromosome positive with chromosome +8, and the common BCR::ABL1 transcript of CML was negative, but e6a2 transcript was positive detected by RT-PCR. The patient was treated with dasatinib 100 mg/d. Three months later, the patients achieved CHR, CCyR and MR4.0. However, the e6a2 transcript is very rare in clinical practice, and more cases of e6a2 transcript need to be studied to clarify its clinical characteristics and improve the treatment effect of these rare cases.

Purpose/Significance To explore the construction pathway of an intelligent automation model tailored for primary health-care institutions,aiming to address the issue of repetitive reporting.Method/Process Through methods such as on-site investigations and expert consultations,a field study is conducted in primary healthcare institutions in Dongcheng District,Beijing.Utilizing information resource planning methods and data integration and mapping technologies,the business interactions and information flow within these in-stitutions are analyzed to investigate the construction pathway of an automated reporting model.Result/Conclusion The business flow and data flow are mapped out by the modeling process,a repository of relevant reporting indicators is organized,and a multi-source data au-tomatic mapping model and rules are developed.The study provides a feasible reference pathway for realizing intelligent reporting in pri-mary healthcare institutions.

AIM:To investigate the effects of Shaoyao-Gancao decoction(SGD)on inflammation and mucosal barrier damage in rats with 2,4,6-trinitrobenzenesulfonic acid(TNBS)-induced inflammatory bowel disease(IBD).METHODS:Forty-eight male SD rats were randomly divided into normal group,model group,high-dose(500 mg/kg),medium-dose(250 mg/kg)and low-dose(125 mg/kg)SGD groups,and balsalazide sodium(1 g/kg)group.All rats were pre-administered for 3 d,and on the 4th day of the experiment,they were fasted for 24 h.Except for the normal group,the rats in the other 5 groups were given enema mixed with TNBS(100 mg/kg)and 50％ethanol,and continued to be adminis-tered for 5 d after modeling.After modeling,the disease activity index(DAI)was evaluated.After the experiment,the levels of nitric oxide(NO)and myeloperoxidase(MPO)in serum and colonic tissues of rats were determined.RT-qPCR and Western blot were used to determine tumor necrosis factor-α(TNF-α),cyclooxygenase-2(COX-2),inducible nitric oxide synthase(iNOS)and nuclear factor-κB(NF-κB)in the colon of rats.The expression of tight junction proteins zonu-la occludens-1(ZO-1)and claudin 2 in rat colon tissues was determined by immunofluorescence staining.RESULTS:Compared with normal group,the weight of rats in model group was decreased,the colon was shortened,DAI and colon tissue macroscopic scores were significantly increased(P<0.05),colon pathological injury was serious,and NO and MPO levels in serum and colon tissues of the rats in model group were significantly increased(P<0.05).The mRNA and pro-tein expression levels of TNF-α,COX-2,iNOS and NF-κB in colon tissues were significantly increased(P<0.01),while the expression levels of ZO-1 and claudin 2 were significantly decreased(P<0.01).Compared with model group,the body weight and colon shortening of rats in SGD groups were alleviated,DAI and macroscopic scores of colon tissues were significantly decreased(P<0.05),the pathological damage of colon was improved,and the levels of NO and MPO in se-rum and colon tissues of rats were significantly decreased(P<0.05).The mRNA and protein expression levels of TNF-α,COX-2,iNOS and NF-κB in colon tissues were significantly decreased(P<0.05),while the expression levels of ZO-1 and claudin 2 were significantly increased(P<0.05).CONCLUSION:Treatment with SGD effectively attenuates the inflam-matory response and intestinal mucosal barrier damage caused by TNBS-induced IBD in rats.

Objective To explore the impact of non-pharmaceutical interventions(NPIs)on the prevalence of respiratory pathogens in adults,and to understand the scientific value and long-term effect of NPIs.Methods A retrospective study was conducted to collect the clinical data and laboratory examination data of adult patients with respiratory tract infection in West China Hospital,Sichuan University from 2017 to 2023,and the patho-gen,population,season and other aspects were analyzed in different periods.The analysis period included 2017 to 2019(before the implementation of NPIs),2020 to 2022(during the implementation of NPIs),and January to December 2023(after the implementation of NPIs).Results A total of 33 068 adult patients with respira-tory tract infection were included.The overall prevalence of 8 adult respiratory pathogens from 2017 to 2019(26.95％)was higher than that from 2020 to 2022(8.70％),and the difference was statistically significant(P＜0.05).There were significant differences in the prevalence of pathogens among different genders,ages and seasons in the first,middle and last three periods of NPIs implementation(P＜0.05).Before the imple-mentation of NPIs,the seasonal peak of respiratory prevalence appeared from January to March each year.With the implementation of NPIs,the seasonal peak of respiratory prevalence appeared from January to March 2020(10.09％),October to December 2021(9.32％),July to September 2022(15.23％),respectively.After the implementation of NPIs,the seasonal peak of respiratory prevalence appeared from October to December 2023(21.20％).Among the 8 pathogens,the change of prevalence of influenza A virus H1N1(2009)was the most obvious,and the prevalence was 17.42％,0.00％and 6.99％before,during and after the implementation of NPIs,respectively.Conclusion Due to the influence of NPIs and other factors,the epidemic characteristics of respiratory pathogens have changed from 2017 to 2023.Attention to the emerging characteristics of patho-gen prevalence is important for the prevention,diagnosis and control of respiratory infectious diseases during public health emergencies.

Objective To understand the use situation of Rush among the men who have sex with men(MSM)in Chongqing City and its influencing factors,so as to provide a basis for the formulation of relevant prevention and control measures.Methods The cross-sectional survey was adopted.The MSM population in Chongqing City were recruited through the network recruitment and referral of social organizations to conduct an anonymous electronic questionnaire survey to obtain the information such as demographic characteristics,sexual partners and sexual behavior characteristics in the past 6 months,Rush use,HIV and syphilis antibody testing.The X2 test and non-conditioned multi-factor Logistic regression analysis were used to analyze the in-fluencing factors of Rush use.Results A total of 494 MSM were surveyed,the Rush usage rate was 22.1％.The results of the multi-factor logistic regression analysis showed that the age of first time homosexuality be-havior＜18 years old(OR=2.715,95％CI:1.353-5.451),unprotected homosexual anal intercourse in near-ly 6 months(OR=2.237,95％CI:1.355-3.693),having multiple same-sex partners in nearly 6 months(OR=3.610,95％CI:1.449-8.993),same-sex casual partners in the nearly 6 months(OR=3.734,95％CI:2.221-6.280)were the risk factors for MSM using Rush.Conclusion The RUSH use rate among the MSM population in Chongqing City is high.The targeted intervention measures should be carried out,especially to strengthen the propaganda and education of the population who first have homosexual behavior under 18 years old,have unprotected homosexual anal intercourse in the nearly 6 months,have multiple homosexual perma-nent partners in the last 6 months,and have homosexual temporary partners,in order to reduce the use rate of Rush and thereby reduce the risk of HIV infection and transmission in this population.

This article reported two fetuses diagnosed with Pallister-Killian syndrome (PKS). Amniotic fluid samples of one pregnant woman (case 1), with an abnormal result of non-invasive prenatal test, were analyzed by karyotyping and copy number variation-sequencing (CNV-seq), and samples of the other one (case 2), with a prenatal ultrasound of a lowered spinal conus and an enhanced echo of the renal cortex, were tested for CNV-seq. The chromosome karyotype of case 1 showed 47,XN,+mar[30]/46, XN[10]. CNV-seq results revealed three to four copies of repetition of the p13.33p11.1 segment of chromosome 12, suggesting 12p tetrasomy chimerism in both fetuses. The diagnosis of fetal PKS was confirmed through the combination of multiple technologies (ultrasound, chromosomal karyotype analysis, and CNV-seq). The two pregnancies were terminated after genetic counseling.

Objective:To understand the awareness of AIDS related knowledge and prevalence of extramarital sexual behaviors in HIV-infected men aged ≥50 years in Chongqing, and provide scientific evidence for the development of prevention and control measures.Methods:From July to December 2021, a random sampling method was used to recruit 800 HIV-infected men aged ≥50 years in Yubei, Kaizhou, Jiangjin and Shapingba Districts of Chongqing for a face-to-face questionnaire survey. The logistic regression model was used to analyze relevant factors of AIDS knowledge awareness and prevalence of extramarital sex behavior. The SPSS 26.0 software was used for statistical analysis.Results:The average age were (62.5±8.6) years in 698 of HIV-infected men aged ≥50 years.The overall awareness rate of AIDS related knowledge was 66.91% (467/698), the incidence of non-marital sexual behavior in last year was 6.73% (47/698), and the consistent condom use rate was 61.70% (29/47). Multivariate analysis showed that the awareness rate of AIDS related knowledge was lower in those aged ≥70 years (a OR=0.60, 95% CI: 0.40-0.91) and those aged ≥60 years (a OR=0.61, 95% CI: 0.41-0.90) and those with other marital status (a OR=0.70, 95% CI: 0.50-0.98), and the awareness rate of AIDS related knowledge was higher in those with education level of junior high school or above (a OR=5.90, 95% CI: 3.34-10.44). Those with widowed/divorced/unmarried marital status (a OR=13.01, 95% CI: 6.11-27.71) and those using sexual aids in the last year (a OR=8.72, 95% CI: 2.76-27.55) had higher prevalence of non-marital sexual behavior. Conclusions:HIV-infected men aged ≥50 years in Chongqing had lower awareness of AIDS related knowledge, a certain percentage of non-marital sex, and lower condom use rate. It is suggested to strengthen the health education about sexual health and the promotion of condom use in this population.