1.From prenatal screening to passive diagnosis in adulthood: Phenotypic association analysis of 224 patients with Klinefelter syndrome.
Huanhuan ZHANG ; Yong WU ; Yamei XIE ; Qingsong LIU
Chinese Journal of Medical Genetics 2026;43(3):188-196
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
2.Construction and validation of a medication deviation prediction model for hospital-to-home transition period in coronary heart disease patients with initial treatment
Yushuang LI ; Shu LI ; Qianying ZHANG ; Yan HUANG ; Kun LIU ; Xiulin GU ; Huanhuan JIANG
China Pharmacy 2026;37(4):491-496
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.
3.Relationship between physical development and onset and progression of myopia among children and adolescents
MA Xiaohui, GONG Yizhuo, QIU Tingting, LIU Zheng, HUO Huanhuan, HU Yuanyuan, BI Hongsheng
Chinese Journal of School Health 2026;47(5):723-727
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.
4.Molecular characterization analyses of a human metapneumovirus outbreak in Gongshu District of Hangzhou City
Jianyi LIU ; Chenye ZHANG ; Lei ZHAO ; Huiqun SHUAI ; Huanhuan YU ; Qingyu SUN ; Fei LU ; Shengjun XI
Shanghai Journal of Preventive Medicine 2026;38(3):216-220
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.
5.From "Treating Different Diseases in the Same Way" to "Treating the Disease with Same Mechanism in the Same Way":Life Network Mechanisms and Systems Medicine Interpretation of Traditional Chinese Medicine Holism
Huanhuan LIU ; Shuxin DONG ; Junlong SHEN ; Jie LI
Journal of Traditional Chinese Medicine 2026;67(13):1359-1364
Under the background of the medical model shifting from biomedicine to systems medicine, the traditional Chinese medicine (TCM) concept of "treating different diseases in the same way" demonstrates unique scientific value. From the perspective of systems biology, this study proposes that "treating different diseases in the same way" is essentially "treating the disease with same mechanism in the same way"; that is, different diseases share common pathological links at levels such as neuro-endocrine-immune network homeostasis, inflammatory signaling pathways, or gut microecology. Through the application of the "same formulas" and "same medicinals", TCM intervenes in these shared network nodes. On this basis, the modern medical value of the "treating different diseases in the same way" concept is elucidated from three dimensions including "network causality" in epistemology, "systemic modulation" in methodology, and "comorbidity management" in practice. It reveals that as a life network regulation concept based on holism, "treating different diseases in the same way" provides novel diagnostic and therapeutic strategies for complex chronic diseases and multimorbidity.
6.Analysis of Pharmacodynamic Material Basis, Mechanisms, and Efficacy-related Quality Markers of Puerariae Lobatae Radix and Puerariae Thomsonii Radix with Different Therapeutic Effect
Xiaowei MENG ; Zhenzhen YANG ; Wenting WU ; Ronghua LIU ; Yongmei GUAN ; Hui OUYANG ; Liping HUANG ; Yaqi WANG ; Qiong LI ; Huanhuan DONG ; Jianping GONG ; Weifeng ZHU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(18):269-281
Puerariae Lobatae Radix and Puerariae Thomsonii Radix are the dried roots of Pueraria lobata and Pueraria thomsonii of the Leguminosae family, respectively. Since their separate inclusion in the 2005 edition of Pharmacopoeia of the People's Republic of China, the two herbs have been individually recorded. Although they share the same functions and indications, the required content of puerarin differs by a factor of up to eightfold between them. The current quality standard relies solely on a single indicator, puerarin, which fails to reflect the correlation between chemical constituents and core therapeutic effects. This has resulted in prominent issues of mixed use in clinical practice and production, thereby constraining the high-quality development of the industry. Modern research has demonstrated that Puerariae Lobatae Radix contains a comprehensive range and higher content of isoflavonoid constituents, while Puerariae Thomsonii Radix is rich in starch and polysaccharides. Puerariae Lobatae Radix exhibits stronger effects in antipyresis, cardiovascular and cerebrovascular protection, and central analgesia, while Puerariae Thomsonii Radix demonstrates greater advantages in anti-inflammation, hypoglycemia, and peripheral analgesia. Based on this, the chemical material bases of Puerariae Lobatae Radix and Puerariae Thomsonii Radix at both the macromolecule and micromolecule levels were systematically reviewed and compared. The pharmacodynamic material bases and mechanisms of action underlying their three core therapeutic effects, namely "relieving exterior syndrome and clearing heat", "promoting fluid production to quench thirst", and "dredging channels and activating collaterals", were summarized. The most highly correlated common metabolic pathway shared by both herbs for these three therapeutic effects is the arachidonic acid metabolic pathway, and their common core target is prostaglandin-endoperoxide synthase 2 (PTGS2). This review provided clinical application recommendations based on the therapeutic differences between the two herbs, elucidated the scientific connotation of their "same origin but different effects", and, grounded in the quality marker (Q-Marker), proposed the concept of efficacy-related Q-Marker based on "substance-efficacy-syndrome" association, as well as a novel strategy for efficacy-oriented quality evaluation. Preliminary screening of quality markers associated with different therapeutic effects was also conducted. This study aims to provide critical scientific evidence for the precise clinical application of Puerariae Lobatae Radix and Puerariae Thomsonii Radix, the improvement of quality standards, and the high-quality development of the industry.
7.Investigation of H5N6 avian influenza virus in a human infection case in Quanzhou City, Fujian Province, 2024
LIU Jiangyi ; PAN Huanhuan ; HUANG Xinlan
China Tropical Medicine 2025;25(3):380-
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.
8.Clinical features and early warning of the sepsis in immunocompromised host sepsis.
Yanqing CHEN ; Runjing GUO ; Xiao HUANG ; Xiaoli LIU ; Huanhuan TIAN ; Bingjie LYU ; Fangyu NING ; Tao WANG ; Dong HAO
Chinese Critical Care Medicine 2025;37(3):245-250
OBJECTIVE:
To explore the clinical features of the sepsis in immunocompromised hosts and establish an early warning equation.
METHODS:
A retrospective study was conducted on sepsis patients admitted to the intensive care unit (ICU) of Binzhou Medical University Hospital from October 2011 to October 2022. General information, infection site, etiology results and drug susceptibility, clinical symptoms, inflammatory indicators, acute physiology and chronic health status evaluation II (APACHE II), sequential organ failure assessment (SOFA), incidence of immune paralysis, and outcome during hospitalization were collected. Based on whether they met the diagnostic criteria for immunocompromised hosts, patients were divided into immunocompromised group and immune normal group. The clinical information of the two groups were compared. Multivariate Logistic regression was used to analyze the risk factors of patients with immunocompromised sepsis and the regression equation model was initially established. Omnibus test and Hosmer-Lemeshow test were used to evaluate the model.
RESULTS:
A total of 169 patients with sepsis were included, including 61 in the immunocompromised group and 108 in the normal immune group. The top 3 infection sites in the immunocompromised group were bloodstream infection, pulmonary infection and abdominal infection. The top 3 infection sites in the normal immune group were pulmonary infection, bloodstream infection and abdominal infection. The infection rate of Gram-negative bacteria in the immunocompromised group was significantly lower than that in the normal group [49.2% (30/61) vs. 64.8% (70/108), P < 0.05]. The infection rate of Gram-positive bacteria [27.9% (17/61) vs. 13.9% (15/108)] and multidrug-resistant bacteria [54.1% (33/61) vs. 29.6% (32/108)] were significantly higher than those in normal immune group (both P < 0.05). In terms of clinical symptoms, the proportion of fever in the immunocompromised group was significantly lower than that in the immune normal group [49.2% (30/61) vs. 66.7% (72/108), P < 0.05]. Neutrophil count (NEU) and neutrophil percentage (NEU%) in the immunocompromised group were significantly lower than those in the normal immune group. Lymphocyte percentage (LYM%), neutrophil/lymphocyte ratio (NLR), C-reactive protein (CRP), procalcitonin (PCT), APACHE II score, combined shock rate, incidence of immune paralysis, and mortality during hospitalization in the immunocompromised group were significantly higher than those in the normal immune group. Logistic regression analysis showed that NLR, CRP and PCT were risk factors for patients with immunocompromised sepsis (all P < 0.05). The above indicators were used as covariables to construct a Logistic regression equation, that was, Logit (P) = 0.025X1+0.010X2+0.013X3-2.945, where X1, X2 and X3 represent NLR, CRP and PCT respectively. Omnibus test and Hosmer-Lemeshow test show that the model fits well and has certain early warning value.
CONCLUSIONS
Patients with immunocompromised sepsis have more intense inflammatory response, with Gram-negative bacteria being the predominant pathogen, and a higher incidence of Gram-positive bacterial infections and multi-drug resistant infections. The severity of the disease, in-hospital mortality, the incidence of shock and the incidence of immune paralysis after sepsis were significantly higher. NLR, CRP and PCT were independent risk factors for sepsis in immunocompromised hosts. The regression equation constructed based on this may have early warning significance for patients with immunocompromised sepsis.
Humans
;
Sepsis/immunology*
;
Immunocompromised Host
;
Retrospective Studies
;
Risk Factors
;
Intensive Care Units
;
Logistic Models
;
Male
;
APACHE
;
Female
;
Middle Aged
;
Aged
9.Promotive effect of Shengji Yuhong Ointment extract on skin wound healing of zebrafish and its mechanism
Huanhuan TENG ; Guang SUN ; Rui JIANG ; Liwei SUN ; Jianzeng LIU
Journal of Jilin University(Medicine Edition) 2025;51(5):1221-1229
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.
10.Emergency medical response strategy for the 2025 Dingri, Tibet Earthquake
Chenggong HU ; Xiaoyang DONG ; Hai HU ; Hui YAN ; Yaowen JIANG ; Qian HE ; Chang ZOU ; Si ZHANG ; Wei DONG ; Yan LIU ; Huanhuan ZHONG ; Ji DE ; Duoji MIMA ; Jin YANG ; Qiongda DAWA ; Lü ; JI ; La ZHA ; Qiongda JIBA ; Lunxu LIU ; Lei CHEN ; Dong WU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(04):421-426
This paper systematically summarizes the practical experience of the 2025 Dingri earthquake emergency medical rescue in Tibet. It analyzes the requirements for earthquake medical rescue under conditions of high-altitude hypoxia, low temperature, and low air pressure. The paper provides a detailed discussion on the strategic layout of earthquake medical rescue at the national level, local government level, and through social participation. It covers the construction of rescue organizational systems, technical systems, material support systems, and information systems. The importance of building rescue teams is emphasized. In high-altitude and cold conditions, rapid response, scientific decision-making, and multi-party collaboration are identified as key elements to enhance rescue efficiency. By optimizing rescue organizational structures, strengthening the development of new equipment, and promoting telemedicine technologies, the precision and effectiveness of medical rescue can be significantly improved, providing important references for future similar disaster rescues.


Result Analysis
Print
Save
E-mail