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.

ObjectiveTo evaluate pharmacological effects of Shengmai injection（SMI）on cerebral ischemia and study its neuroprotective mechanism. MethodsMale specific pathogen-free （SPF） Sprague-Dawley （SD） rats were randomly divided into a sham group， a model group， a low-dose SMI group（3 mL·kg^-1）， a middle-dose SMI group（6 mL·kg^-1）， a high-dose SMI group（12 mL·kg^-1）， and a Ginaton group（4 mL·kg^-1）according to the random number table method， with 12 rats in each group. The rat model of cerebral ischemia-reperfusion（MCAO/R）was prepared via the suture method. The administration groups were intraperitoneally injected with corresponding concentrations of SMI or Ginaton injection after reperfusion， which was conducted for 3 consecutive days. The sham group and model group were administered the equivalent volume of physiological saline. The pharmacological effects of SMI on brain injury in MCAO/R rats were evaluated by neurological function scores， cerebral infarction area， hematoxylin-eosin （HE） staining， Nissl staining， terminal deoxynucleotidyl transferase dUTP nick-end labeling （TUNEL） staining， and Western blot. The dominant link and key protein of SMI treating cerebral injury were explored using proteomic analysis. The related mechanisms of SMI were further validated using enzyme-linked immunosorbent assay （ELISA）， Western blot， and chloride ion fluorescence probe with oxygen-glucose deprivation/reoxygenation（OGD/R）-treated PC12 cells and MCAO/R rats. ResultsCompared with the sham group， the model group showed significantly increased neurological function scores， cerebral infarction area， neuronal apoptosis rate， and expression levels of apoptosis related proteins （P<0.05， P<0.01）and significantly decreased density of Nissl bodies and neurons（P<0.01）. Compared with the model group， the SMI groups exhibited significantly decreased neurological function scores， cerebral infarction area， neuronal apoptosis rate， and expression levels of apoptosis related proteins （P<0.05， P<0.01）and significantly increased density of Nissl bodies and neurons （P<0.05）. The proteomic analysis results showed that oxidative stress and inflammatory response were important processes of SMI intervening in MCAO/R injury， and the chloride intracellular channel protein 1 （CLIC1） was one of key proteins in its action network. The levels of representative indicators of oxidative stress and inflammatory response in the MCAO/R rats of the SMI groups were significantly reduced， compared with those in the model group（P<0.05， P<0.01）， and the expression levels of CLIC1 and downstream NOD-like receptor protein 3 （NLRP3） decreased （P<0.01）. In addition， the experimental results based on the OGD/R PC12 cells showed that SMI significantly increased the cell survival rate（P<0.01） and significantly decreased the intracellular chloride ion concentration（P<0.05）. ConclusionSMI has neuroprotective effects. Oxidative stress and inflammatory response are key processes of SMI intervening in MCAO/R injury. The potential mechanism is closely related to the regulation of CLIC1.

OBJECTIVE To evaluate the influence of pharmaceutical quality control on the efficiency and outcomes of standardized medication therapy management （MTM） services for patients with coronary heart disease by using Economic， Clinical and Humanistic Outcomes （ECHO） model. METHODS This study collected case data of coronary heart disease patients who received MTM services during January-March 2023 （pre-quality control implementation group， n＝96） and June-August 2023 （post-quality control implementation group， n＝164）. Using propensity score matching analysis， 80 patients were selected from each group. The study subsequently compared the economic， clinical， and humanistic outcome indicators of pharmaceutical services between the two matched groups. RESULTS There were no statistically significant differences in baseline data between the two groups after matching （P＞0.05）. Compared with pre-quality control implementation group， the daily treatment cost （16.26 yuan vs. 24.40 yuan， P＜0.001）， cost-effectiveness ratio [23.12 yuan/quality-adjusted life year （QALY） vs. 32.32 yuan/QALY， P＜0.001]， and the incidence of general adverse drug reactions （2.50% vs. 10.00%， P＝0.049） of post-quality control implementation group were decreased significantly； the utility value of the EuroQol Five-Dimensional Questionnaire （0.74± 0.06 vs. 0.71±0.07， P＝0.003）， the reduction in the number of medication related problems （1.0 vs. 0.5， P＜0.001）， the medication adherence score （[ 6.32±0.48） points vs. （6.10±0.37） points， P＝0.001]， and the satisfaction score （[ 92.56±1.52） points vs. （91.95±1.56） points， P＝0.013] all showed significant improvements. Neither group experienced serious adverse drug reactions. There was no statistically significant difference in the incidence of new adverse reactions between the two groups （1.25% vs. 3.75%， P＝0.310）. CONCLUSIONS Pharmaceutical quality control can improve the quality of pharmaceutical care， and the ECHO model can quantitatively evaluate the effect of MTM services， making pharmaceutical care better priced and more adaptable to social needs， thus being worthy of promotion.

Objective:To discuss the promotive effect of Shengji Yuhong Ointment extract(SYOE)on skin wound healing of zebrafish,and to clarify its mechanism.Methods:A total of 320 wild-type AB strain zebrafish were used to establish a wound model by making an incision on the lateral abdomen.The zebrafish were randomly divided into control group,low dose of SYOE group(raised in water containing 0.625 mg·L-1 SYOE),high dose of SYOE group(raised in water containing 1.250 mg·L-1 SYOE),and allantoin group(raised in water containing 1.000 mng·L-1 allantoin),and there were 80 zebrafish in each group.The wound areas were recorded by photographs on days 7,14,and 21 after injury,and the wound healing rates were calculated.The skin tissue samples from the wound sites of the zebrafish in various groups were collected at different time points to prepare histological sections.HE staining was used to observe the widths of skin wound edges of the zebrafish on days 0,7,14,and 21 in various groups;Sirius red staining was used to detect the collagen levels in the wound tissues of the zebrafish on days 2,4,6,and 8 after injury in various groups;enzyme-linked immunosorbent assay(ELISA)was used to detect the levels of type Ⅰ collagen(Col Ⅰ)and α-smooth muscle actin(α-SMA)in the wound tissues on day 4 after injury;real-time quantitative PCR(RT-qPCR)was used to analyze the mRNA expression levels of Col Ⅰ-encoding genes(col1a1a,col1a1b,and col1a2)and α-SMA as wall as key factors of the transforming growth factor β(TGF-β)/Smad signaling pathway(tgfb1a,smad2,and smad3a)in the wound tissues of the zebrafish in various groups on day 4 after injury.Results:The wound healing assessment results showed that compared with control group,the wound healing rates of the zebrafish in low dose of SYOE group,high dose of SYOE group,and allantoin group were significantly increased on days 7,14,and 21 after injury(P＜0.05 or P＜0.01);the wound healing rate in high dose of SYOE group achieved 84％on day 21.The HE staining results showed that compared with control group,the widths of skin wound edges of the zebrafish in low dose of SYOE group,high dose of SYOE group,and allantoin group were significantly decreased on days 14 and 21 after injury(P＜0.05 or P＜0.01).The Sirius red staining results showed that compared with control group,the collagen levels in the skin wound tissue of the zebrafish in low dose of SYOE group,high dose of SYOE group,and allantoin group were significantly increased on days 6 and 8 after injury(P＜0.01).The ELISA results showed that on day 4 after injury,compared with control group,the levels of Col Ⅰ and α-SMA in the skin wound tissue of the zebrafish in low dose of SYOE group,high dose of SYOE group,and allantoin group were significantly increased(P＜0.05 or P＜0.01).The RT-qPCR results showed that on day 4 after injury,compared with control group,the expression levels of col1a1b,col1a2,α-SMA,tgfb1a,and smad2 mRNA in the skin wound tissue of the zebrafish in low dose of SYOE group were significantly increased(P＜0.05 or P＜0.01),while the expression levels of col1a1a,col1a1b,col1a2,α-SMA,tgfb1a,smad2,and smad3a mRNA in the skin wound tissue of the zebrafish in high dose of SYOE group and allantoin group were significantly increased(P＜0.01).Conclusion:SYOE can increase the collagen deposition in skin wound of zebrafish,promote wound healing,and upregulate the expression of genes related to the TGF-β/Smad signaling pathway.

Objective: To investigate the impacts of remifentanil on the proliferation,apoptosis and Wnt/β-catenin pathway of breast cancer MDA-MB-231 cells. Methods: Different concentrations of remifentanil(0,0. 5,2. 5,5. 0,10. 0,20. 0,40. 0 μg/mL) were used to treat human normal breast MCF-10A cells and breast cancer MDAMB-231 cells to screen for experimental concentrations of remifentanil. MDA-MB-231 cells were divided into control group,remifentanil low(5. 0 μg/mL),medium(10. 0 μg/mL),and high(20. 0 μg/mL) concentration groups,and remifentanil + SKL2001(Wnt/β-catenin pathway agonist) group. MTT assay and colony formation assay were applied to detect cell proliferation ability. Flow cytometry was applied to detect cell apoptosis and cell cycle changes. Western blot was applied to detect protein expression related to cell proliferation,apoptosis,and the Wnt/β-catenin signaling pathway. Results: Remifentanil at concentrations of 5. 0,10. 0,and 20. 0 μg/mL could reduce the viability of MDA-MB-231 cells and had no prominent toxicity to MCF-10A cells. Compared with the control group,the optical density value of cell proliferation,colony formation number,proportion of S-phase cells,and the protein levels of cellular myelocytomatosis(c-Myc),Cyclin D1,B lymphoblastoma 2(Bcl-2),precursor of cysteine aspartate protease-3(pro-caspase-3) and β-catenin were lower in the low,medium,and high concentration remifentanil groups(P 0/G1 phase cells,apoptosis rate,early apoptosis rate,the protein levels of Bcl-2 associated X protein(Bax) and cleaved cysteine aspartate protease-3(Cleaved caspase-3),and glycogen synthase kinase-3β(GSK-3β) were higher( P ＜0. 05) ． SKL2001 could weaken the effects of remifentanil on the proliferation and apoptosis of MDA-MB-231 cells． Conclusion Remifentanil inhibits the proliferation of MDA-MB-231 cells，induces apoptosis and cell cycle arrest，and its mechanism may be related to the inhibition of Wnt / β-catenin signaling pathway activation．

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 construct an evidence-based discharge preparation service plan for patients after receiving percutaneous transhepatic biliary drainage(PTBD)so as to provide a theoretical reference basis for improving the quality of discharge nursing service.Methods A computerized retrieval of academic papers concerning the discharge preparation service plan for patients after receiving PTBD was conducted.The quality of the included literature was evaluated and the evidences were summarized.According to the clinical actual requirements,the first draft of discharge preparation service for patients after receiving PTBD was formed.Using Delphi method,two rounds of letter inquiries were conducted in 17 experts to determine the final version.Results In the first round of expert consultation,17 questionnaires were distributed and 15 questionnaires were recovered;and in the second round of expert consultation,15 questionnaires were distributed and 15 questionnaires were recovered.In the first round of expert correspondence,11 experts made suggestions for modification,and in the second round of expert correspondence,4 experts made suggestions,indicating that the experts were more motivated to participate in the research.The coefficient of expert consultation judgment(Ca)was 0.90,the degree of familiarity(Cs)was 0.91,the coefficient of authority(Cr)was 0.91,and the Kendall's w for round 1 and round 2 were 0.363 and 0.368 respectively.The final discharge preparation service scheme consisted of 13 items at six different time points from patient admission to after discharge.Conclusion The established discharge preparation service plan for patients after receiving PTBD is scientific and reliable,which can provide theoretical basis for patients'discharge service.

Objective Based on the best evidences to establish the practice plan of discharge preparation service for patients after receiving percutaneous transhepatic biliary drainage(PTBD),and to assess its clinical application value.Methods According to the PIPOST principle the clinical questions were proposed,the best evidences of discharge preparation service for patients after receiving PTBD were retrieved and summarized.The review indicators and review methods were formulated.The baseline review was carried out,the facilitators and barrier factors were analyzed,the change strategies were developed,the clinical transforms were implemented,and the patient outcomes were evaluated.Results After application of the evidences,the implementation of the review indicators of discharge preparation services after PTBD was improved.After discharge,the incidence of catheter complications(including catheter falling-off and puncture site skin infection)was decreased,and the difference was statistically significant(P＜0.05).There were no statistically significant differences in the incidences of tube obstruction and fluid extravasation.Conclusion The evidence-based practice of discharge preparation service for patients after receiving PTBD is helpful for improving the self-care ability of patients after discharge,reducing the incidence of tubular complications and improving the clinical outcome of patients.

To analyze the investigation and disposal of an H5N6 human infection with animal derived influenza epidemic in Quanzhou City in 2024, and provide reference for the control and prevention of animal derived influenza epidemics in future.According to Technical Guidelines for Control and Prevention of Human infected with Zoonotic Influenza Viruses (Trial), we investigated the diagnosis and treatment of the case, suspected exposure, infection sources and routes, by the method of field epidemiological investigation. The case, close contacts, and relevant environmental samples were collected for nucleic acid testing and gene sequencing. A nasopharyngeal carcinoma patient who rapidly progressed to severe pneumonia and died of multiple organ failure after being diagnosed with H5N6. The H5N6 virus nucleic acid test results of 5 close contacts and 37 suspected exposed individuals were all negative, and no second-generation cases occurred. Through on-site investigation and genetic sequencing analysis, it is highly likely that the source of infection is the outdoor environment of free range poultry contaminated with H5N6 virus in the vicinity of the patient's home.Patients with nasopharyngeal carcinoma or other immune restricted diseases should take personal protective measures, stay away from poultry and livestock breeding and trading places, and avoid close contact with poultry or other animals as much as possible. We should strengthen the training of management personnel of third-party testing institutions, enhance the work of thematic risk assessment and the application of risk assessment results,and expand the scope of monitoring human infected with zoonotic influenza viruses in breeding farms, live poultry markets, and migratory bird habitats.