DiGeorge(DGS)syndrome is an autosomal dominant disorder caused by 22q11.2 microdeletions,most patients developed the disease in childhood.22q11.2 deletion syndrome,and the mutation types are dominated by haploid deletion of this gene.We report a young patient with hypoparathyroidism(parathyroidism)induced by DGS syndrome combined with hypocalcemic heart failure.Genetic testing revealed pathogenic copy number variants associated with the clinical phenotype of the subject.About 2 674 kb of deletion variation was detected at q11.21 position on chromosome 22,which contained the TBX1 gene and was a pathogenic mutation.This paper discusses the clinical features,pathogenesis and current treatment of DGS,and emphasizes the importance of early screening,early diagnosis and treatment,and regular follow-up of heart failure,aiming to enhance the awareness of clinicians and geneticists on DGS syndrome.

This study was aimed at preliminarily investigating the molecular biological functions of the PPE65 protein from Myco-bacterium tuberculosis,and providing foundational data for tuberculosis prevention and control.The basic biological properties of the PPE65 gene-encoded protein were predicted with bioinformatics tools.Sequence information for the Mycobacterium tuberculosis Rv3621c gene and PPE65 protein was retrieved from the NCBI database.The Rv3621c gene was amplified through PCR with the H37Rv genome as a template,then cloned into the pET22b(+)expression vector.The recombinant pET22b(+)-PPE65 plasmid was transformed into Escherichia coli BL21(DE3)competent cells for IPTG-induced expression.Solubility analysis,purification,and identification of the recombinant PPE65 protein were performed.BEAS-2B cells were treated with various concentrations of PPE65 protein for 24 h,and cell proliferation was assessed with CCK-8 assays.PPE65 was found to be composed of 413 amino acids and to have a molecular formula of C????H????N???O???S??,a relative molecular mass of 40 679.88,a theoretical isoelectric point of 4.60,an ali-phatic index of 81.94,and an average hydrophilicity value of 0.319,thus indicating a stable hydrophobic protein lacking signal pep-tides or transmembrane domains.Secondary structure analysis revealed 53.03%α-helix(Hh),2.66%β-sheet(Ee),and 44.31%ran-dom coil(Cc).Bioinformatics predictions identified 38 B-cell epitopes and 22 CTL/Th-cell epitopes.The full-length PPE65 gene(1 308 bp)was confirmed through double restriction enzyme digestion and sequencing,thereby validating the correct construction of the pET22b(+)-PPE65 recombinant plasmid.SDS-PAGE analysis demonstrated that the recombinant protein was found in inclusion bodies,and a single band at 43.7 kDa was observed after purification.Western blotting revealed specific binding to mouse-derived His monoclonal antibodies,thereby confirming successful expression of the PPE65 protein.BEAS-2B cells treated with a PPE65 protein concentration gradient(2.5-20 μg/mL)exhibited a dose-dependent increase in cell number.Compared with those in the PBS control group,TGF-β relative expression levels were significantly higher in all treatment groups(t2.5=4.893,P<0.001,t5.0=4.640,P<0.05,t10=7.535,P<0.05,t20=16.44,P<0.000 1).This study elucidated the structural characteristics of the PPE65 protein,successfully obtained the recombinant protein through prokaryotic expression and purification,and demonstrated its ability to promote BEAS-2B cell proliferation.The underlying mechanism might involve suppression of TGF-β/S mad signaling pathway activation.These findings provide a theoretical basis for understanding the role and regulatory mechanisms of PPE65 during M.tuberculosis infection.

Objective This study aims to explore the impact of changes in psychological status on non-suicidal self-inju-ry(NSSI)among junior high school students,in order to provide a theoretical basis for promoting their mental health development and to formulate more effective prevention and intervention measures.Methods A longitudinal study design was employed.Baseline data were collected in 2021(T1)from 652 first-year junior high school students selected through stratified cluster ran-dom sampling from two middle schools in a city.In 2023(T2),585 valid follow-up cases were obtained(effective response rate:89.72％).Chi-square tests,binary logistic regression,and ROC curve analysis were used to examine the effects of dynamic changes in psychological stress,internet addiction,depression,anxiety,and insomnia on NSSI(significance level α=0.05).Results ① Univariate analysis showed that the detection rate of NSSI significantly decreased from 22.05％(129/585)at T1 to 8.55％(50/585)at T2(x2=41.164,P＜0.001),with an average annual decline of 6.75％.Gender differences:the detec-tion rate decreased from 14.68％(43/293)to 5.80％(17/293)in boys(x2=18.577,P＜0.001),and from 29.45％(86/292)to 11.30％(33/292)in girls(x2=5.658,P=0.017),with a narrowing gender gap(T1:14.77％→ T2:5.70％).The NSSI detection rates between boys and girls were statistically significant at both time points(x2=18.577,5.658).② Com-parison between the persistent group and the NSSI-remission group showed that both decreased insomnia severity(OR=3.525,95％CI:1.230-10.105)and increased insomnia severity(OR=5.431,95％CI:1.895-15.570)were associated with an in-creased risk of NSSI persistence or onset(P＜0.01).③ Predictive efficacy:When scores of GAD-7+PHQ-9+ISI all in-creased by≥2 points,AUC=0.709,with a sensitivity of 44.0％-67.7％for predicting NSSI.When PHQ-9+ISI scores both increased by≥2 points,AUC=0.705,with a sensitivity of 50.2％-67.8％.Conclusion This study reveals a high natural re-mission rate of NSSI(82.17％,106/129 in the remission group)during junior high school,but also identifies gender heteroge-neity and persistent risks.Accumulated psychological stress,aggravated internet addiction,and worsened emotional disorders(anxiety/depression)are factors associated with NSSI persistence or onset.Clinical interventions should focus on monitoring dy-namic psychological indicators and early threshold identification.Although these results provide valuable insights,future research is needed to further explore the interaction mechanisms among these factors and how to effectively translate these findings into practical prevention and intervention measures.

Objective:To understand the incidence of adverse pregnancy outcome in HIV-infected pregnant women and influencing factors in China and provide reference for the improvement of the health status of HIV-infected pregnant women and their newborns.Methods:Based on a mother-child cohort of HIV-infected pregnant women and children (PMTCT-MC-2005) established in Guangxi Zhuang Autonomous Region, Yunnan Province and Xinjiang Uygur Autonomous Region, this study enrolled pregnant women with or without HIV infection as study subjects from January 2017 to June 2023, a total of 1 646 pregnant women (558 HIV-infected and 1 088 HIV-uninfected) were included, and 34 cases with missing data were excluded. The χ2 test was used to analyze the difference in the incidence adverse pregnancy outcome between two groups, and used logistic regression model to identify the influencing factors of adverse pregnancy outcome in HIV-infected pregnant women. Results:A total of 1 612 pregnant women were included in the study, in whom 541 were infected with HIV and 1 071 were not infected with HIV. The incidence of adverse pregnancy outcome was 18.8% (303/1 612), the incidence of adverse pregnancy outcome was 33.1% (179/541) in the HIV-infected pregnant women and 11.6% (124/1 071) in the pregnant women without HIV infection. The results of multivariable logistic regression analysis showed that the influencing factors of adverse pregnancy outcome were age <35 years at delivery (a OR=0.64, 95% CI: 0.43-0.95) compared with the age ≥35 years and the duration of antiviral treatment over 10 years (a OR=0.43, 95% CI: 0.23-0.79) compared with less than one year. Conclusions:The incidence of adverse pregnancy outcome in HIV-infected pregnant women was high in some regions of China during 2017-2023. It is necessary for HIV-infected women to get pregnancy at appropriate time based on antiretroviral treatment effect and strengthen self-care to reduce the incidence of adverse pregnancy outcome.

Objective To predict the risk of coronary atherosclerosis using cerebral small vessel disease and cerebral artery stenosis in order to assist early identification of coronary artery disease(CHD).Methods A retrospective analysis was conducted on 130 patients(aged≥65 years)who underwent cerebral MRI,magnetic resonance angiography(MRA),and coronary computed tomo-graphy angiography in the Chinese PLA General Hospital between January 2019 and December 2024.Based on coronary computed tomography angiography results,the patients were categorized into an asymptomatic CHD group(56 cases)and a non-CHD group(74 cases).Cerebral MRI and MRA were used to assess white matter hyperintensity,enlarged perivascular spaces,lacunar infarcts,cerebral microbleeds(CMB)scores,total score of cerebral small vessel disease and degree of cerebral artery stenosis.Multivariate logistic regression analysis was employed to identify the clinical and radiological indicators related to CHD.Then a predictive model was constructed,and then its performance in early predicting CHD was evaluated.Results Blood glucose,low-density lipoprotein cholesterol,CMB score≥ 1,and≥50％stenosis of the posterior cerebral artery were independent risk factors for CHD(P＜0.05).The combined predictive model integrating clinical indicators,cerebral small vessel disease,and cerebral artery stenosis demonstrated the best performance,with an AUC value of 0.867(95％CI:0.807-0.927),outperforming the clinical model and the clinical-cerebral small vessel disease model.Conclusion cerebral small vessel dis-ease and cerebral artery stenosis are closely related to coronary atherosclerosis.The predictive model integrating clinical features and cerebrovascular disease imaging markers provides impor-tant reference for early screening of CHD.

Objective:To analyze the epidemiological characteristics of drug resistance genes of carbapenemase-producing Escherichia coli (CPECO) in Henan Province Hospital of Traditional Chinese Medicine from 2021 to 2023, providing data support and theoretical basis for controlling nosocomial infections of CPECO.Methods:Using a cross-sectional study, 30 carbapenem-resistant Escherichia coli (CRECO) strains confirmed by VITEK-2 Compact identification and drug sensitivity test in the Clinical Microbiology Laboratory of Henan Province Hospital of Traditional Chinese Medicine from 2021 to 2023 were tested, using carbapenemase inhibitor enhancement test to conduct preliminary screening of carbapenemases, and colloidal gold immunochromatography and polymerase chain reaction (PCR) were used to determine the phenotypes and genotypes of common carbapenemases ( blaKPC, blaNDM, blaVIM, blaIMP, blaOXA) respectively, and the genotypes ( blaSHV, blaTEM, blaCTX) of common extended Spectrum beta-lactamases (ESBL) were confirmed using PCR. The PCR amplification products of carbapenemase and ESBL positive strains were Sanger-sequenced, and the sequencing products were compared on the Blast website to determine the exact carbapenemase and ESBL genotypes. Sequence typing (ST) was performed on CPECO using the Achtman multi-locus sequence typing scheme to determine the cloning relationship between different strains. Results:A total of 21 CPECO strains were screened. Drug sensitivity test results showed that CPECO strains showed widespread drug resistance, with the resistance rate to monocyclic (aztreonam) and trimethoprim/sulfamethoxazole being over 60%(16/21, 14/21), and the resistance rate to other antibacterial drugs being 100%. Only the sensitivity to aminoglycosides and fosfomycin remained relatively high, and no strains resistant to tigecycline and colistin were found. Colloidal gold immunochromatography detected 18 blaNDM types, 2 blaKPC types, and 1 blaIMP type. Sequencing of drug resistance gene PCR products classified 17 blaNDM-5 strains, 1 blaNDM-4 strain, 2 blaKPC-2 strain, and 1 blaIMP-4 strain, which were completely consistent with the results of screening test and colloidal gold immunochromatography. ESBL resistance gene testing showed that the detection rate of blaTEM was 42.9%(9/21), blaCTX-M was 33.3%(7/21), and blaSHV was 4.8%(1/21). The rate of blaNDM producing CPECO carrying both ESBL resistance genes was 27.8%(5/18). The MLST typing results revealed 11 sequence types (STs), including one ST155 clonal complex and nine singleton STs. Among these, there were seven strains of ST167, five strains of ST410, and one strain each of ST58, ST68, ST69, ST93, ST131, ST155, ST648, ST1114, and ST3268. Conclusion:The main resistance mechanism identified in this study for CPECO was the production of blaNDM-5 carbapenemase, with a high proportion of strains also carrying blaTEM-1D and/or blaCTX-M-15 ESBLs. MLST typing found that the epidemic strain of CPECO showed certain polymorphism, but there were clonal transmission of multiple clonal complexes between ST167 and ST410.

Esophageal cancer is the eighth most common malignant tumor in the world, and China is a country with high incidence of esophageal cancer. Currently, The treatment options for resectable esophageal cancer is multidisciplinary comprehensive treatment based on surgery. In recent years, minimally invasive esophageal cancer surgery has been increasingly used in clinical practice, especially McKeown minimally invasive esophagectomy(MIE) has become the most minimally invasive esophagectomy currently used in China. But how effective is the McKeown MIE for esophageal cancer compared to the open McKeown and other minimally invasive esophageal cancer procedures? A detailed comprehensive description is not yet available. In this paper, We will summarize the clinical studies related to McKeown MIE and traditional open McKeown, Ivor-Lewis MIE, Sweet operation and robot-assisted McKeown MIE, and systematically analyze them, so as to clarify the value of McKeown MIE surgery in the treatment of esophageal cancer.

Objective:To investigate and summarize the imaging and pathological features of non-acute occlusion following flow diverter (FD) implantation in animal models.Methods:Four experimental pigs (experimental group) that experienced non-acute occlusion (occlusion time exceeding 24 hours) within the FD stent implanted in the common carotid artery, and 19 pigs (control group) that did not experience stent occlusion during the same period were involved. Using an interventional approach under digital subtraction angiography (DSA), the 4 occluded FD lumens were mechanically opened. Optical coherence tomography (OCT), intravascular ultrasound (IVUS) and histopathological examinations were performed to evaluate the intraluminal composition and characteristics of the occlusive tissues. These findings were compared with non-occluded FD stents to summarize the imaging and pathological changes within the occluded FD lumen.Results:The occlusion times of the FD stents in the 4 experimental pigs were 16 weeks, 20 weeks, 20 weeks, and 24 weeks postoperatively. All occluded stents were successfully recanalized under DSA, with a technical success rate of 4/4. Among the 19 non-occluded FD stents, OCT and IVUS revealed uniform (16 stents) or non-uniform (3 stents) neointimal coverage of the stent struts, presenting as homogeneous high/slightly high signal intensity or medium echogenicity. Histopathological examination indicated that the neointima was primarily composed of smooth muscle cells and a small amount of fibrous connective tissues. In contrast, the 4 occluded FD stents demonstrated excessive neointimal proliferation and plaque formation, leading to luminal loss, as shown by OCT and IVUS. The occlusion tissues predominantly presented as homogeneous high signal intensity with weak attenuation (fibrous plaques) on OCT, with some regions showing blurred low signal intensity and strong attenuation (lipid plaques). IVUS presented homogeneous echogenicity (fibrous plaques) and hypoechogenic zones (lipid plaques). Histopathological examination showed that the occlusion tissues mainly consisted of smooth muscle cells, fibrous connective tissues, and lipids, accompanied by numerous foam cells and a minor presence of inflammatory cells.Conclusions:Histopathological examinations confirm that non-acute occlusion of FD is mainly caused by excessive hyperplasia of intima along with the formation of fibrous plaques and lipid plaques. OCT and IVUS have typical finding in imaging that can assist in determining the cause of stent occlusion as well as the lesion's nature, thereby providing crucial guidance for subsequent clinical treatment and drug selection.

Objective To evaluate the feasibility of fluoroscopy-guided anterograde forceps biopsy for diagnosing uretero-ileal neobladder anastomotic stenosis.Methods Twenty-two patients who underwent Bricker surgery presented with hydronephrosis were selected.Using a catheter-wire technique,percutaneous nephrostomy tract was used to access the uretero-ileal neobladder stric-ture and establish a sheath biopsy channel.Forceps biopsy was performed at the uretero-ileal neobladder anastomotic site,followed by placement of a 10.2F ureteral stent.The technical success rate,complications,biopsy sensitivity,specificity,accuracy were recorded,and preoperative versus postoperative white blood cell counts,creatinine,and urea nitrogen levels were compared.Results The tech-nical success rate was 100％(22/22),with no serious complications,such as ureteral perforation and major bleeding.The accuracy,sensitivity and specificity of the biopsy were 95.45％(21/22),85.71％(6/7)and 100％(15/15),respectively.Preoperative and post-operative white blood cell counts were(9.17±2.16)× 1012/L vs(6.03±1.51)×1012/L,creatinine levels were(219.95±78.47)U/mL vs(78.91±17.23)U/mL,and urea nitrogen levels were(19.85±5.27)U/mL vs(5.95±1.60)U/mL.All three parameters showed statistically significant differences(P＜0.05).Conclusion The fluoroscopy-guided anterograde forceps biopsy for diagnosing uretero-ileal neobladder anastomotic stenosis is safe and feasible.

Objective To observe the effectiveness and safety of DiaSphere embolized microsphere TACE for treating primary hepatocellular carcinoma(HCC).Methods Totally 188 patients with HCC were prospectively enrolled and randomly assigned to research group(n=93)and control group(n=95),who underwent TACE with DiaSphere embolized microspheres and Embosphere embolized microspheres,respectively.The incidence of TACE-related adverse events were recorded.The therapeutic efficacy 1 month after the first TACE,also 1 and 3 months after the last TACE,and liver functions 1 month after the first and last TACE were compared between groups.Results In research group,there were 69 cases underwent 1 time TACE,22 cases underwent 2 times and 2 cases underwent 3 times TACE,while in control group,there were 82 cases underwent 1 time and 13 cases underwent 2 times TACE,respectively.No statistical difference of the incidence of adverse events was found between groups(77.42%[72/93]vs.76.84%[73/95],P=1.000).One month after the first TACE,7 cases in research group and 11 cases in control group were lost to follow-up,respectively.One month after the last TACE,12 cases were lost to follow-up in both groups,and 3 months after the last TACE,28 cases were lost to follow-up in both groups.No significant difference of objective response rate nor disease control rate was found between groups at the above time points(all P＞0.05).One month after the first and last TACE,liver function indicators were not different between groups(all P＞0.05).Conclusion Both the short-term efficacy and safety of TACE with DiaSphere embolized microspheres for treating HCC were good.