OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

OBJECTIVE To investigate the mechanism by which Shenfukang capsule （SFK） ameliorates renal interstitial fibrosis （RIF） by regulating macrophage-fibroblast crosstalk via the signal transducer and activator of transcription 3 （STAT3）/Yes-associated protein （YAP） pathway. METHODS RAW264.7 macrophages were induced to polarize with transforming growth factor-β 1 （TGF-β 1 ）. Subsequently， a non-contact co-culture system of macrophages with renal fibroblasts NRK-49F， as well as a non-contact co-culture system of macrophages with YAP-knockdown renal fibroblasts， were established. Cells were treated with low， medium， and high concentrations （4， 8， 16 μg/mL） of SFK， as well as a STAT3 inhibitor （STAT3-I，1.64 μg/mL） and losartan potassium tablets （positive control， 0.28 μg/mL）， for 48 h. After intervention， the protein and mRNA expression levels of CD86， CD163， and STAT3 in macrophages， as well as CD86， F4/80， and STAT3 mRNA， were detected. In co-cultured renal fibroblasts， the protein and mRNA expression levels of α -smooth muscle actin （ α -SMA）， Vimentin， collagen type Ⅰ （Col-Ⅰ）， matrix metalloproteinase-1 （MMP-1）， and YAP were detected. In co-cultured YAP-knockdown renal fibroblasts， the protein and mRNA expression levels of α -SMA， Vimentin， and MMP-1 were also detected. RESULTS Following TGF-β 1 induction， the protein expression levels of CD86， CD163， and STAT3， as well as the mRNA expression levels of CD86， F4/80， and STAT3 in macrophages were significantly increased （ P ＜0.05）. The conditioned medium from polarized macrophages activated renal fibroblasts， as evidenced by significantly increased protein and mRNA expression levels of α -SMA， Vimentin， Col-Ⅰ， and YAP， and significantly decreased protein and mRNA expression levels of MMP-1 in renal fibroblasts （ P ＜0.05）. Treatment with SFK and STAT3-I reversed the changes in the above indicators， with the medium concentration SFK group showing stronge r effects on some indicators than the low and high concentration groups. In the non-contact co-culture experiment of macrophages and YAP-knockdown renal fibroblasts， there were no statistically significant differences in the protein and mRNA expression of α-SMA， Vimentin， and MMP-1 among the groups. CONCLUSIONS SFK can inhibit macrophage-renal fibroblast crosstalk by blocking the STAT3/YAP pathway， thereby delaying the progression of RIF.

Objective To investigate the post-discharge exercise behavior and factors influencing moderate to vigorous intensity physical activity (MVPA) in patients undergoing lung surgery. Methods A total of 2874 patients from the large prospective, observational perioperative lung symptom study cohort (CN-PRO-Lung 3) in the Department of Thoracic Surgery at Sichuan Cancer Hospital between April 7, 2021, and January 31, 2024, were selected as the survey subjects. A survey was conducted using the Investigation of Exercise Behavior after Lung Surgery questionnaire and the International Physical Activity Questionnaire-Short Form (IPAQ-SF) among patients who underwent lung surgery. Binary logistic regression was used to analyze the factors influencing patients’ engagement in MVPA. Results A total of 702 patients were surveyed, including 252 males and 450 females, with an average age of (52.4±10.2) years. Patients with lung cancer accounted for 85.9%. Only 36.0% of the patients had regular exercise habits, while 42.3% did not engage in any physical activity. The three main barriers for postoperative exercise were physical discomfort (pain, coughing, shortness of breath, etc, 54.7%), lack of professional guidance (41.7%), and concerns about the surgical wound (28.9%). The proportions of patients engaging in vigorous, moderate, and low-intensity physical activity were 5.7%, 28.2%, and 66.1%, respectively. Multivariate analysis showed that patients with a personal annual income ≥50000 yuan (OR=1.52, 95%CI 1.01-2.29, P=0.044), high school education or above (OR=1.92, 95%CI 1.33-2.76, P<0.001), and lobectomy (OR=1.44, 95%CI 1.02-2.03, P=0.037) engaged in more MVPA. Conclusion Patients undergoing lung surgery have inadequate physical activity after discharge, particularly lacking in MVPA. Patients with higher income, higher educational levels, and lobectomy are more frequently engaged in MVPA. Measures such as symptom control, providing exercise guidance, and enhancing education on wound care may potentially improve the inadequate physical activity in lung surgery patients after discharge.

Objective:To understand the mental problem in elderly male prisoners and its related factors.Methods:A total of 289 elderly male prisoners from five prisons in Sichuan Province were selected.They were assessed with the self-compiled general situation questionnaire,12-item General Health Questionnaire(GHQ-12,with a total score ≥ 3 indicating a tendency towards mental problem),short-form UCLA Loneliness Scale(ULS-8)and Insomnia Severity Index-Chinese Version(ISI-C).Results:The detection rate of mental problem was 41.52％.Multiple factor logistic regression analysis indicated that having a remaining sentence of≥5 years,educa-tional levels of primary school and below,high school or technical secondary school and above,involvement in drug-related crimes,property crimes,violent crimes,good and poor relationships with spouses,average relationships with fellow inmates,self-assessed blood pressure levels that were low and high,and having insomnia were risk fac-tors for mental problem(OR=9.55,11.75,13.88,82.24,33.96,363.52,5.77,113.27,2.33,1.87,3.80,42.89).Conclusion:The mental problem among elderly male prisoners are related to their sentence,education lev-el,crime type,relationship with spouse and cellmates,self-rated blood pressure and sleep status.

OBJECTIVE To investigate the result of human immunodeficiency virus(HIV)screening for the people visiting to a three-A hospital of Sichuan Province and analyze the prevalence of complications with hepatitis B virus(HBV)infection,hepatitis C virus(HCV)infection and Treponema pallidum(TP)infection in the emerging HIV infection patients.METHODS The result of HIV screening for the people who visited to Ziyang Central Hos-pital from Jan.1,2020 to Dec.31,2024 and the test results of HBV,HCV and TP for the emerging HIV infec-tion patients were collected and were summarized and statistically analyzed by SPSS.0 software.RESULTS Totally 289 891 case-times were tested for HIV,1529 cases were previously diagnosed with HIV,465 of whom were tested posi-tive for the first time,there was significant difference in the positive rate of test for the first time among the 5 years(x2=15.998,P=0.003).Totally 353 cases were confirmed positive among the 465 primary positive screening cases.Among the emerging HIV infection patients,the positive rate was higher in the male than in the female(x2=141.141,P＜0.001),and the positive rate was high among the population aged more than 40 year old(x2=11.448,P＜0.001),mi-grant workers(x2=270.110,P＜0.001)and low education level population(x2=25.911,P＜0.001).The detection rate of gp41 was up to 100.00％in strip type testing.The analysis of the ratio of relative light unit(RLU)to Cutoff val-ue(COI)in the initial screening experiment showed that when COI was greater than 50,all of the confirmed tests were positive,when COI ranged between 1 and 5,the false positive rate was 97.06％.The incidence of complica-tion with HBV infection in the emerging HIV infection patients was increased year by year(x2=20.355,P＜0.001),and the incidence of complication with HCV infection was increased in recent two years(x2=10.690,P=0.030).CONCLUSIONS There is no obvious rise of positive rate of HIV screening among the people visiting to the hospital in recent 5 years.The sensitivity of the primary screening of clinical laboratory is high without posi-tive missing test.The positive rates of HBV and HCV are increased among the emerging HIV infection patients.

Objective:To understand the mental problem in elderly male prisoners and its related factors.Methods:A total of 289 elderly male prisoners from five prisons in Sichuan Province were selected.They were assessed with the self-compiled general situation questionnaire,12-item General Health Questionnaire(GHQ-12,with a total score ≥ 3 indicating a tendency towards mental problem),short-form UCLA Loneliness Scale(ULS-8)and Insomnia Severity Index-Chinese Version(ISI-C).Results:The detection rate of mental problem was 41.52％.Multiple factor logistic regression analysis indicated that having a remaining sentence of≥5 years,educa-tional levels of primary school and below,high school or technical secondary school and above,involvement in drug-related crimes,property crimes,violent crimes,good and poor relationships with spouses,average relationships with fellow inmates,self-assessed blood pressure levels that were low and high,and having insomnia were risk fac-tors for mental problem(OR=9.55,11.75,13.88,82.24,33.96,363.52,5.77,113.27,2.33,1.87,3.80,42.89).Conclusion:The mental problem among elderly male prisoners are related to their sentence,education lev-el,crime type,relationship with spouse and cellmates,self-rated blood pressure and sleep status.

OBJECTIVE To investigate the result of human immunodeficiency virus(HIV)screening for the people visiting to a three-A hospital of Sichuan Province and analyze the prevalence of complications with hepatitis B virus(HBV)infection,hepatitis C virus(HCV)infection and Treponema pallidum(TP)infection in the emerging HIV infection patients.METHODS The result of HIV screening for the people who visited to Ziyang Central Hos-pital from Jan.1,2020 to Dec.31,2024 and the test results of HBV,HCV and TP for the emerging HIV infec-tion patients were collected and were summarized and statistically analyzed by SPSS.0 software.RESULTS Totally 289 891 case-times were tested for HIV,1529 cases were previously diagnosed with HIV,465 of whom were tested posi-tive for the first time,there was significant difference in the positive rate of test for the first time among the 5 years(x2=15.998,P=0.003).Totally 353 cases were confirmed positive among the 465 primary positive screening cases.Among the emerging HIV infection patients,the positive rate was higher in the male than in the female(x2=141.141,P＜0.001),and the positive rate was high among the population aged more than 40 year old(x2=11.448,P＜0.001),mi-grant workers(x2=270.110,P＜0.001)and low education level population(x2=25.911,P＜0.001).The detection rate of gp41 was up to 100.00％in strip type testing.The analysis of the ratio of relative light unit(RLU)to Cutoff val-ue(COI)in the initial screening experiment showed that when COI was greater than 50,all of the confirmed tests were positive,when COI ranged between 1 and 5,the false positive rate was 97.06％.The incidence of complica-tion with HBV infection in the emerging HIV infection patients was increased year by year(x2=20.355,P＜0.001),and the incidence of complication with HCV infection was increased in recent two years(x2=10.690,P=0.030).CONCLUSIONS There is no obvious rise of positive rate of HIV screening among the people visiting to the hospital in recent 5 years.The sensitivity of the primary screening of clinical laboratory is high without posi-tive missing test.The positive rates of HBV and HCV are increased among the emerging HIV infection patients.

Objective To explore risk factors of senile degenerative heart valve disease(SDHVD)in the elderly in China by Meta analysis.Methods Meta-analysis was conducted according to preferred reporting items for systematic reviews and Meta-analyses(PRISMA)guidelines for systematic review and Meta-analysis.Eleven electronic databases,including PubMed,Web of Science,Cochrane,Embase,Ovid,Scopus,CNKI,VIP database,Wan Fang database,The National Medical Journal of China,and SinoMed database,were retrieved from their inception to March 15,2023.The articles about SDHVD were searched systematically.Literature screening,quality evaluation and data extraction were independently conducted by 2 researchers according to the inclusion and exclusion criteria.Meta-analysis was performed by Stata17.0.Results A total of 18 articles(including cross-sectional study and case-control study)were included,involving 10 121 elderly people.After controlling the confounding variables,the following risk factors were related to SDHVD in elderly people in China:age(WMD=4.29,95% CI:1.84-6.74,I2=94.5% ,P<0.05),smoking(OR= 1.32,95% CI:1.00-1.73,I2=78.9% ,P<0.05),hypertension(OR=1.93,95% CI:1.75-2.13,I2=0,P<0.001),hyperlipidemia(OR=1.66,95% CI:1.40-1.97,I2=2.4% ,P<0.001),diabetes mellitus(OR=1.33,95% CI:1.05-1.69,I2=60.6% ,P<0.05),coronary artery disease(OR=2.12,95% CI:1.60-2.80,I2=67.4% ,P<0.001),osteoporosis(OR=3.42,95% CI:2.07-5.65,I2= 0,P<0.001),blood phosphorus(OR=-0.02,95% CI:-0.05-0.02,I2=0,P>0.05).Conclusion Age,smoking,hypertension,hyperlipidemia,diabetes mellitus,coronary artery disease,and osteoporosis are the risk factors of SDHVD in elderly people.

Objective:To conduct a scoping review of domestic and international risk prediction models for the recurrence of diabetic foot ulcers (DFU) and provide a basis for clinical nursing practices and related research.Methods:A computer search of nine databases in both Chinese and English was conducted, with the search period extending up to September 1, 2023. Two researchers independently performed data selection and extraction. The methodological quality of the included studies was assessed using the Prediction model Risk of Bias Assessment Tool (PROBAST) .Results:A total of seven studies were included, comprising thirteen risk prediction models. History of previous foot ulcers, smoking, duration of diabetes, and foot lesions were identified as the primary predictive factors, with predictive discrimination ranging from 0.660 to 0.943.Conclusions:Nursing staff should pay close attention to the risk factors for recurrence of DFU, develop low-bias and highly applicable risk prediction models, and validate and refine existing models.

Objective To investigate the effects of glycosylphosphatidylinositol-anchored HDL-binding protein (GPIHBP1) on glioma growth and macrophage infiltration. Methods Initially, the expression of GPIHBP1 in glioma samples and macrophage infiltration were analyzed using TCGA database, and these bioinformatics results were validated in clinical tissue samples. A stable glioma cell line overexpressing GPIHBP1 was then established to further explore the effects of GPIHBP1 overexpression on glioma cell proliferation, apoptosis, migration, and invasion. Finally, the impact of GPIHBP1 overexpression on tumor growth and macrophage infiltration was verified through xenograft experiments. Results TCGA database analysis revealed that GPIHBP1 expression was higher in low-grade gliomas compared to normal tissues, while it was lower in high-grade gliomas. Additionally, the expression level of GPIHBP1 in low-grade gliomas was higher than in high-grade gliomas, which was confirmed by immunohistochemistry (IHC). Western blot analysis confirmed the successful construction of the GPIHBP1-overexpressing glioma cell line. CCK-8, flow cytometry, scratch and Transwell assays demonstrated that the proliferation, migration and invasion capabilities of the stable cell line were reduced compared to the control group. Xenograft experiments further showed that the tumor growth and macrophage infiltration were decreased in the stable cell line. Conclusion The differential expression of GPIHBP1 in different grades of gliomas may be associated with tumor progression. Overexpression of GPIHBP1 can inhibit glioma growth, possibly by influencing the tumor microenvironment and promoting the polarization of macrophages towards the antitumor M1 phenotype, thereby inhibiting glioma growth.