OBJECTIVE: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. METHODS: A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005). RESULTS: The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%. CONCLUSION The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans ; Thalassemia/diagnosis* ; Software ; Female ; Genetic Testing/methods* ; Male ; Mutation ; Adult ; Genotype ; ROC Curve ; Risk Assessment

ObjectiveTo investigate the mRNA expression profile and clinical significance of the RAB24 gene in hepatocellular carcinoma （HCC） based on multi-source database including The Cancer Genome Atlas （TCGA） and clinical cohort validation. MethodsData from TCGA （n=424） were utilized to evaluate the prognostic value of RAB24 expression via Kaplan-Meier analysis and Cox regression models. An independent clinical cohort comprising 90 HCC and 30 paracancerous tissues was established to validate protein expression and histopathological features through immunohistochemistry （IHC） and routine histological staining. The TIMER database was employed to analyze the association between RAB24 and the tumor microenvironment （TME）. Furthermore， integrated with LinkedOmics， GSEA and GSVA algorithms were used to quantitatively characterize the core molecular pathways regulated by RAB24. ResultsThe mRNA expression level of RAB24 in HCC was significantly higher than that in non-tumor liver tissues （P<0.05）. Kaplan-Meier analysis revealed that the overall survival （OS） of patients in the RAB24 low-expression group was significantly longer compared to the high-expression group （HR=1.570， Log-rank P=0.01）. Cox proportional hazards regression analysis demonstrated that RAB24 expression （HR=1.480， P=0.028）， T stage （HR=2.949， P<0.001）， M stage （HR=4.077， P=0.017）， and tumor residual status （HR=2.317， P<0.001） were independent prognostic factors for HCC. RAB24 expression was highly correlated with alpha-fetoprotein （AFP） levels and immune infiltration levels （P<0.01）， and showed a significant， low-level positive correlation with the TP53 gene （Rho=0.31， P<0.01）. Quantitative analysis of the RAB24 protein in clinical samples validated that RAB24 expression in HCC tissues was significantly elevated compared to non-tumor liver tissues （P<0.05）. TIMER analysis confirmed that RAB24 expression was highly associated with the infiltration of multiple immune cells （such as B cells and NK cells）， as well as stromal and tumor purity scores in tumor tissues （P<0.01）. GSEA/GSVA enrichment revealed that the P53， MYC， and mTORC1 signaling pathways were activated in the RAB24 high-expression group； correlation analysis confirmed that the RAB24 expression level exhibited a significant， low-level positive correlation with the ribosome pathway activity score （r=0.23， P<0.01）. ConclusionsThe RAB24 gene， as a poor prognostic factor for HCC patients， is a potential biomarker for HCC diagnosis， treatment and prognosis. The study is expected to lay a theoretical foundation for the precise diagnosis and treatment of clinical HCC.

ObjectiveTo investigate the contamination status of arsenic (As), cadmium (Cd), lead (Pb), and mercury (Hg) in commercially available aquatic products in Shanghai and their distribution characteristics among different categories of aquatic products, and to assess the dietary exposure levels and non‑carcinogenic health risks of As, Cd, Pb, and Hg through aquatic product consumption among different age groups, so as to provide a scientific basis for food safety surveillance of aquatic products and dietary risk management for residents in Shanghai. MethodsFrom October to November 2021, a total of 90 aquatic product samples, including marine fish, freshwater fish, freshwater shrimp, marine crab, freshwater crab, and mollusks, were randomly collected from 16 districts of Shanghai. Sample pretreatment was performed according to GB 5009.268‒2016 (National Food Safety Standard—Determination of Multi‑elements in Foods). The concentrations of As, Cd, and Pb in aquatic products were determined by inductively coupled plasma mass spectrometry (ICP‑MS), and Hg was determined by direct mercury analyzer. Inorganic arsenic (iAs) was estimated as 3.5% of total As according to the method recommended by the European Food Safety Authority (EFSA). The contamination levels of As, Cd, Pb, and Hg in aquatic products were evaluated according to GB 2762‒2017 (National Food Safety Standard—Maximum Levels of Contaminants in Foods). A combined approach of point assessment and probabilistic assessment was applied to estimate the estimated daily intake (EDI) and non‑carcinogenic risk indicators—hazard quotient (HQ) and hazard index (HI)—for different age groups. ResultsThe detection rates of As and Hg were both 100.00% in all samples, while those of Cd and Pb were 74.44% and 25.56%, respectively. The arithmetic means (wet weight) of the four elements and estimated iAs were: As (1.432 9±3.736 5) mg·kg^-1, iAs (0.050 2±0.130 8) mg·kg^-1, Cd (0.082 5±0.197 8) mg·kg^-1, Pb (0.006 1±0.005 5) mg·kg^-1, and Hg (0.021 9±0.016 7) mg·kg^-1. According to the relevant maximum residue limits, 2 out of 7 mollusk samples (28.57%) and 3 out of 20 marine fish samples (15.00%) exceeded the limit for iAs, and 2 out of 8 marine crab samples (25.00%) exceeded the limit for Cd. The estimated daily intake (EDI, μg·kg^-1·d^-1, by body weight) of iAs, Cd, Pb, and Hg via aquatic product consumption varied among different age groups, with the highest levels observed in children aged 3‒4 years, decreasing gradually with age to the lowest level at 12 ‒ <15 years, with a slight rebound thereafter. The point assessment results showed that the HQs of iAs, Cd, Pb, and Hg ranged from 0 to 0.25, and the cumulative HI ranged from 0.27 to 0.48, all below 1, indicating a relatively low overall risk. The probabilistic assessment results revealed that under the high‑exposure scenario (P_97.5), the HQs of iAs (1.101‒1.281) and Cd (1.175‒1.366) exceeded 1 in children aged 3‒9 years, suggesting potential health risks, while the HQs of Pb and Hg were all below 1, indicating relatively lower risks. ConclusionHg and As are ubiquitously detected in commercially available aquatic products in Shanghai, while the detection rates of Cd and Pb are relatively low. The overall non-carcinogenic risk is at an acceptable level, but children aged 3‒9 years may have potential health risks from iAs and Cd under high-percentile exposure levels. It is recommended to strengthen the monitoring of toxic elements in key aquatic products such as marine fish, mollusks, and marine crabs, and to implement targeted dietary risk management measures for sensitive populations, including children.

Objective To analyze the PLCβ4 gene mRNA expression and its clinical significance in hepatocellular carcinoma (HCC) based on TCGA database. Methods Based on the data on 424 clinical samples (including 374 cases of HCC tissues and 50 cases of nontumor liver tissues) in the TCGA database, Kaplan–Meier method, Cox regression analysis, and immune infiltration analysis were performed to evaluate the relationship between PLCβ4 gene and the clinical characteristics and survival prognosis of HCC patients. Correlation analysis between PLCβ4 gene and 24 types of immune cells was applied to investigate the relationship between PLCβ4 gene and immune cell infiltration and mRNA expression level of TP53 gene, a high-frequency mutation gene in HCC. In addition, paraffin sections of highly, moderately, and poorly differentiated tumor tissues and normal liver tissues from HCC patients were collected. The histopathological observation was carried out via HE staining method, and the expression levels of PLCβ4 and Ki-67 proteins in each clinical sample were verified through the immunohistochemical method. Results The expression level of PLCβ4 gene in HCC was significantly higher than that in normal tissues (P<0.01), and all patients in the PLCβ4 high-expression group had a significantly longer overall survival than those in the low-expression group (P<0.05), which suggested that PLCβ4 substantially affected the prognosis of HCC patients. Correlation analysis showed that the expression level of PLCβ4 gene was highly correlated with immune cell infiltration and the expression level of TP53 gene. As verified by clinical sample experiments, HE staining experiments and immunohistochemical results revealed that PLCβ4 gene expression in HCC tissue samples was significantly higher than that in normal tissues (P<0.001), and it was negatively correlated with the degree of differentiation. Conclusion PLCβ4 may serve as an independent prognostic factor in HCC and is expected to be a novel molecular target for HCC treatment.

Objective:To explore the modulating effect of match-type of reward on social attention in children with autism spectrum disorder (ASD).Methods:From August 2023 to September 2024, twenty children with ASD and twenty typical development (TD) children peers matched to age, gender and intelligence were recruited from several rehabilitation institutions and a primary school in Hefei, Anhui province, and participated in the experiments. All children with ASD were assessed by autism behavior checklist (ABC). All children completed the reward learning task, reward learning test and visual search training on the first day and the visual search test on the second day. SMI-red eye tracking system was used to collect the children's eye tracking features. Two-way analysis of variance and t-test were utilized to examine search time and search accuracy rate using SPSS 26.0 and GraphPad Prism 8 softwares. Results:All children successfully passed the reward learning test.However, the accuracy of children with ASD was significantly lower than TD peers (96.68% vs 99.32%, Z=2.25, P<0.05). In visual search training, both ASD and TD children spent less time searching the high-reward face than the low-reward face (ASD children: (484.67±136.80)ms vs (527.09±126.90)ms, t=-2.56, P=0.02, TD children: (453.82±176.17)ms vs (511.66±187.14)ms, t=-3.41, P<0.01). During the visual search test, enhanced attention capture were observed in both groups when singleton distractor matched with high reward characteristics compared to the low reward(feature-match: ASD children(451.82±121.13)ms vs (511.67±134.99)ms, t=-2.51, P=0.02; TD children(364.79±92.83)ms vs (465.53±146.95)ms, t=-4.22, P<0.01. Relation-match: ASD children(513.67±215.03)ms vs (446.53±148.00)ms, t=-2.22, P=0.04, TD children(464.00±194.55)ms vs (410.58±184.47)ms, t=3.93, P<0.01). Conclusion:The feature-match relationship can regulate the social attention of children with ASD.

Objective To understand the current situation of healthcare-associated infection(HAI)in China,pro-vide data support and decision-making basis for formulating scientific and effective strategies for HAI prevention and control.Methods A nationwide cross-sectional survey on HAI was conducted among various types and levels of medical institutions in China according to a unified protocol of bedside surveys and case investigations.Results In 2024,a total of 5 736 medical institutions and 2 751 765 patients were surveyed.Among them,34 889 HAI cases were identified,with a prevalence rate of 1.27％.The number of HAI episodes was 38 032,and case prevalence rate was 1.38％.The prevalence rate of HAI in medical institutions in different regions of China ranged from 0.66％to 2.35％.Among medical institutions of different scales,those with a bed capacity of ≥900 had the high-est incidence of HAI,reaching 1.65％.The most common infection site was the lower respiratory tract(44.66％),followed by the urinary tract(12.94％),surgical site(9.32％),upper respiratory tract(7.02％),and bloodstream infection(5.78％).The top 3 departments with the highest HAI rates were the general intensive care unit(10.02％),department of neurosurgery(5.51％),and department(group)of hematology(5.34％).A total of 23 238 strains of HAI pathogens were detected,with 10 714 strains(46.10％)from lower respiratory tract speci-mens.The top 5 detected strains were Klebsiella pneumoniae(14.76％),Pseudomonas aeruginosa(13.33％),Escherichia coli(12.79％),Acinetobacter baumannii(9.23％),and Staphylococcus aureus(7.88％).231 944 pa-tients underwent class Ⅰ incision surgery were monitored,with 1 647 cases experienced surgical site infection,and the prevalence rate of surgical site infection was 0.71％.The number of patients who should undergo pathogen de-tection(patients receiving therapeutic and therapeutic combined prophylactic antimicrobial agents)was 715 179,while the actual number was 480 492,with a pathogen detection rate of 67.18％.425 225 patients received patho-genic detection before treatment,with a detection rate of 59.46％.Conclusion The overall HAI prevalence in Chi-na is lower,showing disparities among medical institutions of different regions and scales.Therefore,precise imple-mentation of measures is necessary for HAI prevention and control,with a focus on high-risk institutions and high-risk departments,key areas,and critical procedures.All levels of medical institutions should continuously reduce the incidence of HAI by strengthening monitoring,standardizing the use of antimicrobial agents,and reinforcing basic HAI prevention and control measures.

OBJECTIVE To investigate the current status of contamination with carbapenem-resistant gram-negative bacteria in environment of intensive care units(ICU)of tertiary hospitals in Shanghai and find out the potential contamination sources so as to provide bases for prevention and control of multidrug-resistant organisms infec-tions in the ICUs.METHODS The surroundings of the ICU patients detected with CRGNB and environmental ob-jects surfaces in public area were sampled by mSuperCARBA chromogenic media from Dec.2024 to Jan.2025,the strains were isolated,and the targeted strains were identified by matrix-assisted laser desorption/ionization time-of-flight(MALDI-TOF)mass spectrometer.RESULTS A total of 653 samples were collected in the survey,76 of which were positive for bacterial culture,60 were detected with CRGNB,and the isolation rate of CRGNB was 9.19％.The isolation rate of CRGNB was 53.40％in the water-source group,0.91％in the non-water-source group,and there was significant difference(x2=286.450,P＜0.001).The result of whole genome sequencing for 17 strains of CRKP showed that ST11 and ST15 were the two major types of multilocus typing(MT),respective-ly carrying 2-12 types of drug resistance genes.CONCLUSIONS The CRGNB strains are detected in some environ-mental sites of the ICUs of 15 tertiary hospitals in Shanghai,and the isolation rate of CRKP is highest among them.The colonization rate of CRGNB is relatively low on the highly frequent-contact object surfaces of the ICUs,however,sink drain holes poses a risk of hospital-acquired CRGNB infections transmissions.Additionally,the ba-sins and towels of the CRGNB patients are hard to be thoroughly cleaned,disinfected and dried,resulting in a high contamination rate.

Objective To elucidate how the overexpression of cystathionine-β-synthase(CBS)plays an antihypertensive role by affecting peroxisome proliferator-activated receptor γ coactivator-1α(PGC-1α)expression.Methods The adeno-associated viruses(AAVs),ones that overexpressed CBS,and another knocked down PGC-1α,were injected into the hypothalamic paraventricular nucleus(PVN)of spontaneously hypertensive rats(SHRs).The rats'blood pressure was monitored,and the level of norepinephrine(NE)was examined by ELISA;PVN inflammatory response,oxidative stress and tyrosine hydroxylase(TH)expression were detected with RT-qPCR and immunofluorescence.Results PVN overexpression of CBS could increase the transcription level of CBS(by 3.8 times,P＜0.05)and PGC-1α(by 1.6 times,P＜0.05)in PVN of SHR.PVN overexpression of CBS could reduce blood pressure in SHR(from 177.81 mmHg to 128.77 mmHg,P＜0.001),but PVN knockdown of PGC-1αweakened such effect(from 128.77 mmHg to 152.79 mmHg,P＜0.05).PVN overexpression of CBS could alleviate PVN inflammatory response and oxidative stress,but this effect was weakened or even eliminated when knocking down PGC-1α was performed at the same time.Conclusion PVN overexpression of CBS can reduce blood pressure in SHR,and this effect may be achieved by increasing the transcriptional level of PGC-1α,alleviating PVN inflammatory response,oxidative stress,and improving sympathetic nerve excitation.

Objective:To evaluate the utility of ultrasonographic monitoring of the rectus femoris muscle—specifically, the rates of change in thickness and cross-sectional area (CSA)—in assessing nutritional status and long-term functional outcomes in patients with sepsis.Methods:In this prospective observational study, sepsis patients admitted to the ICU of the Second Affiliated Hospital of Soochow University between October 2023 and October 2024 were classified by nutritional status at discharge using the Global Leadership Initiative on Malnutrition (GLIM) criteria. Differences in serial ultrasound-measured rectus femoris thickness and CSA on days 1, 3, 5, and 7 were compared between malnourished and non-malnourished groups. The predictive value of these ultrasound parameters for malnutrition was analyzed. Functional prognosis was assessed using the Sarcopenia Assessment Scale, Short Physical Performance Battery, and Manual Muscle Testing, with correlations to muscle changes examined.Results:Of the 71 enrolled patients (median age 73.00 [ IQR: 61.00–80.00]; 47.89% female, 52.11% male), those with malnutrition showed significantly greater variation rates in rectus femoris thickness and CSA on days 3, 5, and 7 compared to the non-malnourished group ( P < 0.05). ROC analysis revealed that the day-7 CSA variation rate had the highest predictive value for malnutrition (AUC = 0.817, 95% CI: 0.713-0.930). These muscle variation rates also correlated strongly with conventional nutritional markers such as BMI, albumin, and urea. Similarly, patients with impaired functional outcomes exhibited higher variation rates in muscle parameters on days 3, 5, and 7 ( P < 0.05), with the day-7 CSA variation rate being most predictive of functional prognosis (AUC = 0.749, 95% CI: 0.632-0.867). Conclusions:Ultrasonographic assessment of rectus femoris thickness and CSA variation rates provides a valuable tool for evaluating nutritional status and predicting functional prognosis in sepsis patients, outperforming traditional biomarkers. This method shows promise for guiding individualized nutrition support and rehabilitation strategies to improve long-term outcomes.

Objective To construct a predictive model for clinical pregnancy outcomes in frozen-thawed embryo transfer(FET)cycles in women with advanced maternal age(age≥35 years)and to analyze its influencing factors.Methods A retrospective analysis was conducted on the clinical data of 2717 older patients who underwent FET treatment at the First Affiliated Hospital of Kunming Medical University from January 2018 to December 2023.These Patients were divided into a clinical pregnancy group(n=851)and a non-clinical pregnancy group(n=1866)based on whether the clinical pregnancy had occurred.The general characteristics and transplantation details of the two groups were compared,and a logistic regression analysis model was constructed.Results The clinical pregnancy rate(CPR)was 31.32%.The CPR for women aged 35-40 years(40.06%)was higher than that for women aged≥40 years(19.35%),with a statistically significant difference(χ2=133.371,P<0.05).The model results showed that the higher anti-Mullerian hormone(AMH)levels(OR=1.053,95%CI:1.012-1.095),the more high-quality blastocysts were transferred(OR=1.704,95%CI:1.143-2.542;OR=2.861,95%CI:1.921-4.262);the more high-quality blastocysts were transferred(OR=2.033,95%CI:1.077-3.836;OR=3.886,95%CI:2.035-7.420),the thicker the endometrial lining on the day of transfer(OR=1.150,95%CI:1.092-1.212)and it could increase the probability of clinical pregnancy.However,for women over 40 years of age(OR=0.551,95%CI:0.437-0.694)and secondary infertility(OR=0.704,95%CI:0.552-0.896),the probability of clinical pregnancy would be reduced;ROC curve analysis results showed that the AUC for predicting clinical pregnancy occurrence in the training set and validation set of the predictive model were 0.723(95%CI:0.699-0.748)and 0.726(95%CI:0.689-0.764),respectively,with cutoff values of 0.262 and 0.260 and the model fit was good(P>0.05).Conclusion Female age,AMH level,type of infertility,number of high-quality embryos(cleavage embryos,blastocysts)transferred,and endometrial thickness on the day of transfer are important factors affecting FET cycles in advanced maternal age women.The constructed prediction model based on these factors has a certain predictive ability for clinical pregnancy.