OBJECTIVE: To investigate the detection patterns, clinical phenotypic characteristics, and differences in diagnostic timeliness of Klinefelter syndrome (KS) across prenatal and postnatal stages, with an aim to provide a basis for optimizing strategies for early screening, diagnosis, and intervention. METHODS: A retrospective study was conducted to analyze data from two phases. The prenatal diagnosis group included 33,302 pregnant women who underwent amniocytic karyotyping due to advanced maternal age, abnormal ultrasound findings, or high-risk non-invasive prenatal testing (NIPT). The postnatal diagnosis group included 52,101 patients who underwent peripheral blood karyotyping due to primary infertility, abnormal external genitalia, or growth and developmental abnormalities. Additionally, medical histories of adult diagnosed patients were reviewed retrospectively to identify early occult symptoms. This study was approved by the Medical Ethics Committee of Chengdu Women's and Children's Central Hospital (Ethics No.: LCYJ-2025-030). RESULTS: In the prenatal group, 96 cases of KS were detected (detection rate 0.29%). The primary indications for referral were NIPT indicating sex chromosome abnormalities (45.83%), advanced maternal age (16.66%), and ultrasound abnormalities (17.70%). In the postnatal group, 128 cases of KS were detected (detection rate 0.25%). Clinical presentations were primarily primary infertility/azoospermia (77.34%), and the patients were predominantly adults (84.40%). Retrospective analysis revealed that adult patients presented with specific physical signs that had been overlooked during childhood. CONCLUSION As KS lacks typical early clinical manifestations, diagnosis is often delayed until adulthood when reproductive needs arise, showing a pattern of "passive detection" and resulting in missed opportunities for optimal intervention. By conducting a comparative analysis of prenatal diagnostic data and postnatal retrospective data, a risk association model linking prenatal screening indications with childhood-specific signs was developed. This study has provided empirical evidence for establishing a multidisciplinary, full life-cycle management system of "screening ~ diagnosis ~ monitoring ~ intervention" helping to shift from "passive detection in adulthood" to "proactive management across the entire life course," and laid a foundation for improving early diagnosis rate and long-term quality of life for patients.
Humans ; Klinefelter Syndrome/genetics* ; Female ; Adult ; Pregnancy ; Retrospective Studies ; Prenatal Diagnosis/methods* ; Male ; Phenotype ; Karyotyping ; Young Adult ; Adolescent ; Middle Aged

OBJECTIVE To develope a predictive model for medication deviation risks during the hospital-to-home transition period in coronary heart disease （CHD） patients with initial treatment， aiming to assist medical staff in rapidly identifying high-risk groups for medication deviation. METHODS A total of 462 CHD patients with initial treatment from the Affiliated Hospital of North China University of Science and Technology （hereinafter referred to as “our hospital”） between January and July 2024 were enrolled. The patients were randomly divided into a modeling group and an internal validation group. The modeling group was further categorized into a medication deviation group and a non-medication deviation group based on whether medication deviations occurred. Similarly， 57 CHD patients with initial treatment from the cardiology department of our hospital between June and September 2025 were collected as an external validation group. Univariate analysis was used to screen predictive factors， followed by multivariate Logistic regression to construct the predictive model. Internal validation methods were employed to evaluate model performance， while external validation methods were used to test the model’s generalizability. RESULTS The 462 patients were divided into a modeling group （319 cases） and an internal validation group （143 cases）. In the modeling group， the medication deviation group （192 cases， 60.19%） and the non-medication deviation group （127 cases， 39.81%） were identified. Multivariate Logistic regression analysis revealed that age， medication type， medication adherence， and self-efficacy in rational medication use were predictive factors for medication deviations in CHD patients with initial treatment （ P ＜0.05）. The predictive model equation was logit P ＝ln[ P /（1－ P ） ] ＝1.321+1.732×age+4.091×medication type －4.360×medication adherence －3.081×self-efficacy in rational medication use. The model demonstrated good discrimination， with a Hosmer-Lemeshow goodness-of-fit test P -value of 0.439， an area under the receiver operating characteristic curve （AUC） of 0.870， sensitivity of 0.970， and specificity of 0.607. A risk nomogram with a total score of 350 points and a cutoff value of 110 points was plotted. The internal validation group showed an AUC o f 0.787 and a prediction accuracy of 77.6%， while the external validation group exhibited an AUC of 0.802 and a prediction accuracy of 73.7%. CONCLUSIONS This study successfully developed a predictive model for medication deviation risks during the hospital-to-home transition period in CHD patients with initial treatment. The model demonstrates excellent discrimination and predictive accuracy， effectively identifying high-risk populations for medication deviations. Age （＞70 years）， number of drug types≥5， poor medication adherence， and poor self-efficacy in rational medication use are independent risk factors for medication deviations.

Objective: To investigate the relationship between physical development indicators and the onset and progression of myopia among children and adolescents, so as to provide theoretical support for coordinated vision and physical health management. Methods: A prospective cohort study was conducted. In September 2022, 3 102 students from grade one in primary school to grade three in junior high school (five year primary school and four year junior high school) from six schools in Huantai County, Shandong Province, were selected using multistage cluster random sampling method to participate in an epidemiological survey on myopia, with follow up completed in September 2023. Follow up value minus baseline value( d ) was used to assess changes in physical development and vision indicators. Multivariate Logistic regression analysis was used to examine the relationship between physical development indicators and the incidence of myopia. Generalized linear models were established to analyze the relationship between physical development indicators and changes in d spherical equivalent (SE) and d axial length (AL) . Results: Multivariate Logistic regression analysis showed that, after adjusting for factors such as gender, age, and baseline body mass index, the third ( Q 3)and fourth ( Q 4)quartiles of d height showed increased risks of myopia onset within one year compared to the first quartile( Q 1) ( OR =1.85,95% CI =1.18-2.88; OR =1.74,95% CI =1.09-2.78,both P ＜0.05). Results from the generalized linear model indicated that, after adjusting for confounding factors such as gender, age, and baseline SE, d SE was negatively correlated with d height and d weight in children and adolescents ( β =-0.024, 95% CI =-0.031 to -0.018; β =-0.006, 95% CI =-0.011 to -0.001), d AL was positively correlated with d height and d weight in children and adolescents ( β =0.011, 95% CI =0.008-0.013; β =0.005, 95% CI =0.003-0.007) (all P ＜0.05). Conclusions Physical development indicators in children and adolescents were associated with the onset and progression of myopia. Dynamic monitoring and early intervention of myopia should be strengthened for children and adolescents with rapid height and weight gain to achieve coordinated management of myopia and physical development.

ObjectiveTo analyze the epidemiological and etiological characteristics of a cluster of human metapneumovirus (HMPV) infection in a kindergarten in Gongshu District of Hangzhou City in May 2024, and to provide reference for the prevention and control of similar outbreaks. MethodsAn on-site investigation was conducted using an epidemiological case investigation form. Throat swab specimens collected from cases were screened for 13 respiratory pathogens using real-time fluorescent polymerase chain reaction (PCR). For HMPV nucleic acid positive specimens, the F gene of HMPV was used as the target gene for amplification and sequencing. The sequencing results were then compared with sequences in GenBank database to determine the virus subtypes and perform phylogenetic analyses. ResultsThe outbreak occurred in a kindergarter junior class with a total of 28 preschoolers and 3 teachers and childcare workers. A total of 11 cases (10 preschoolers and 1 teacher) were identified, including 8 male cases and 3 female cases. Clinical manifestations included fever in all 11 cases (100.00%), cough in 8 cases (72.72%), catarrhal symptoms in 4 cases (36.36%), and headache in 3 cases (27.27%). All symptoms were mild, and no severe cases were observed. A total of 11 throat swab samples were collected. Real-time fluorescent PCR test results showed that 3 samples were positive for HMPV nucleic acid, 2 samples were positive for both HMPV and Streptococcus pneumoniae, and 1 sample was positive for both HMPV and rhinovirus. The sequences of the 6 HMPV nucleic acid positive specimens were amplified and analyzed using specific primers, and all were determined to be HMPV subtype A2b. The F gene fragment sequence showed the highest similarity to PV081665.1/Brazil/2024 (99.65%), and also exhibited high similarity to PP683455.1/Indonesia/2021 (99.48%), PV016275.1/Beijing/2024 (99.31%), and PV052230.1/USA/2024 (99.13%). ConclusionThis cluster of acute respiratory tract infection was caused by HMPV subtype A2b, with co-infection of rhinovirus and Streptococcus pneumoniae. The F gene fragment sequences of the HMPV in this outbreak were highly homologous to those of the A2b strains isolated from Brazil, Beijing, Indonesia, and the the United States.

BACKGROUND:Self-assembling peptide hydrogels exhibit excellent biocompatibility,controllable physicochemical properties,and release capabilities,offering extensive application potential in tissue engineering,drug delivery,and biosensing fields.OBJECTIVE:To summarize the research progress of self-assembling peptide hydrogel in cancer therapy in recent years.METHODS:Using the search terms"self-assembling peptides,hydrogel,sustained release,antitumor,tumor therapy"in Chinese and English,CNKI,PubMed,and Elsevier ScienceDirect databases were searched for relevant literature published from 2000 to 2024.Finally,81 articles were included in the review.RESULTS AND CONCLUSION:Self-assembling peptide hydrogels,as a novel biomaterial,can be used as a sustained-release drug carrier to load a variety of anti-tumor drugs,and immunosuppressants,targeting tumor sites,inducing tumor cell death,reducing drug dosage,and increasing drug accumulation in tumor sites,thereby reducing the probability of toxic side effects and multidrug resistance.Moreover,anti-tumor hydrogels with natural activity can directly kill tumor cells without relying on drugs,and can minimize the toxic side effects of anti-tumor drugs when used alone.

Objective:To explore the relationship between post-traumatic growth and stress perception as well as the chain-mediated roles of psychological resilience and navigating social support in patients with primary liver cancer(PLC), in order to provide theoretical ideas for the nursing and intervention of PLC patients.Methods:Convenience sampling was used to select PLC patients admitted to the First Affiliated Hospital, Third Affiliated Hospital, and Fourth Affiliated Hospital of Xinjiang Medical University from October 2023 to May 2024 as the research subjects. A cross-sectional survey was conducted using Posttraumatic Growth Inventory, the Chinese Perceived Stress Scale, Perceived Social Support Scale, and the Connor-Davidson Resilience Scale.Results:A total of 236 PLC patients were ultimately included, including 189 males and 47 females. Age distribution was as follows: 18-40 years years (7 cases), 41-60 years (128 cases), and ≥61 years (101 cases). Posttraumatic growth showed a significant negative correlation with perceived stress ( r=-0.512, P<0.01), while demonstrating positive correlations with psychological resilience and perceived social support ( r=0.605, 0.515, both P<0.01). Psychological resilience and perceived social support had mediating and chain mediating effects between perceived stress and posttraumatic growth, with mediating effects of -0.176 and -0.069, accounting for 29.24% and 11.46% of the total effect, respectively. The chain mediating effect value was 0.073, accounting for 12.13% of the total effect. Conclusions:The pathway of stress perception on post-traumatic growth in patients with PLC is indirect, and stress perception can contribute to the growth of post-traumatic growth in patients through psychological resilience, and navigating social support.

OBJECTIVE: To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. METHODS: A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5' and 3' untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). RESULTS: The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ:C) and FⅫ antigen (FⅫ:Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c.712_713insT (p.Cys238Leufs *73) in exon 8 and c.1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p.Cys238Leufs*73 variant, while her older son was heterozygous for the p.Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p.Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. CONCLUSION The c.712_713insT and c.1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c.712_713insT (NM_000505) was unreported previously.
Adult ; Female ; Humans ; Male ; Middle Aged ; Base Sequence ; China ; Factor XII/genetics* ; Heterozygote ; Mutation ; Pedigree ; Factor XII Deficiency/genetics* ; East Asian People

Objective To identify biomarkers that characterize its bitter-cold properties of Scutellaria Radix on the basis of evaluating its cold and hot properties,as well as possible metabolic pathways and related targets;To explore its molecular mechanism.Methods Totally 40 mice were randomly divided into a control group and a treatment group,and were orally administered with normal saline and Scutellaria Radix decoction,respectively,for 4 consecutive days.The cold and hot plate differential method was used to evaluate the cold and hot tendencies of the mice;UPLC-MS/MS technology was used to analyze mouse blood samples,differential metabolites were screened using principal component analysis,partial least squares discriminant analysis and orthogonal partial least squares discriminant analysis methods,and metabolic pathway analysis was performed;network modular analysis of differential metabolites was performed using Cytoscape 3.9.0 software to identify potential molecular targets.Results On the second day of administration,the anal temperature of mice in the treatment group decreased significantly compared to the control group(P<0.01);in the cold and hot tendency test,the mice in the treatment group showed an overall increase in high-temperature tendency and a higher proportion of high-temperature zone retention.There was a statistically significant difference(P<0.01,P<0.05)between the treatment group and the control group on the 2nd and 3rd day of treatment;the pattern recognition analysis of serum metabolome data showed that the serum samples of the treatment group and the control group could be completely separated,and a total of 14 differential metabolites were screened out;metabolic pathway analysis identified 16 related pathways,including unsaturated fatty acid biosynthesis,linoleic acid metabolism,citric acid cycle(TCA cycle),arachidonic acid metabolism,glycine,serine and threonine metabolism,steroid hormone biosynthesis,etc.;a total of 16 modules were obtained through network modular analysis,among which the arachidonic acid metabolism pathway and linoleic acid metabolism pathway modules were larger;the nodal degree values of arachidonic acid and linoleic acid were greater than the mean,involving arachidonic acid metabolism and linoleic acid metabolism pathways;by screening 26 genes associated with the cytochrome P450 enzyme system were obtained.Conclusion Scutellaria Radix may regulate the body's energy metabolism,achieve its biological effects,and characterize its medicinal properties by intervening in metabolic pathways such as arachidonic acid and linoleic acid.

Objective To investigate the experience of ICU nurses in communication with the patients under mechanical ventilation,therefore to provide a reference for establishing and improving effective strategies in communication with the patients.Methods Using qualitative research,semi-structured interviews were conducted on 14 ICU nurses in a Tire-IIIA hospital.Data were analysed using Colaizzi's seven-step method to extract themes.Results A total of 4 themes were extracted with 11 sub-themes,they were:emotional stress in non-verbal communication(frustration and feeling of defeat,emotional exhaustion and burnout),difficulty and challenge in ineffective communication(difficulty in establishing an equal and trusting communication quickly,difficulty in accurately understanding communication requirement of patients,and difficulty in achieving effective communication and cooperation),active promotion of effective communication(use of assistive communication tools,actively seek external collaboration,early assessment and prevention of delirium),and enhancement of communication skills and a sense of professional benefit(improvement of professional communication skills and enhancement of cultural communication literacy).Conclusion ICU nurses face various emotional pressures and communication challenges.It is important to actively provide psychological support to the nurses and optimise the communication environment in order to reduce the work stress and enhance the sense of achievement and values.

OBJECTIVE To establish HPLC fingerprints of three drying processes(Atmospheric pressure drying,Decompression drying,Freeze-drying)of Danggui Buxue granules,and combine them with antioxidant tests to determine the optimal drying process and main active components of Danggui Buxue granules.METHODS The fingerprints of multiple batches of Danggui Buxue granules were established by HPLC;the"Fingerprint Similarity Evaluation System of Traditional Chinese Medicine Chromatogram"was used to evaluate the similarity;Hierarchical Cluster Analysis(HCA)and Principal Component Analysis(PCA)were used to characterize the different drying processes of Danggui Buxue granules;evaluate the antioxidant activity of Danggui Buxue granules in different drying processes using 1,1-diphenyl-2-picrylhydrazy(DPPH)and 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid)diammonium salt(ABTS)free radical scavenging method;the spectrum-effect relationship between Danggui Buxue granules fingerprint and antioxi-dant activity was analyzed by grey correlation degree and Pearson,Spearman,Kendall's tau-b correlation analysis methods.RE-SULTS The results of fingerprint showed that there were 16 common peaks in 30 batches of Danggui Buxue granules,and 6 of them were identified by comparison.The results of Cluster Analysis and Principal Component Analysis showed that 30 batches of Danggui buxue granules were divided into 3 categories,and the difference between the groups of atmospheric pressure drying was the least.The results of oxidation test showed that different drying processes of Danggui Buxue granules had good antioxidant activity,and the atmos-pheric pressure drying had the lowest IC50 and the strongest antioxidant activity.Finally,combining the results of gray correlation anal-ysis and correlation analysis,the compounds F2,F10,F13(calycosin),F15(formononetin),F16 might be important characteristic peaks reflecting the antioxidant activity of Danggui Buxue granules.CONCLUSION Compared with other drying processes,atmos-pheric pressure drying has higher batch consistency and stronger antioxidant activity,and can be used as the preferred drying process for Danggui Buxue granules,and components 2,10,13,15 and 16 are the main active ingredients for Danggui Buxue granules to exert antioxidant effects.