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 evaluate the prevalence, potential risk factors, and correlation between coronary and peripheral microvascular dysfunction in heart failure with non-reduced ejection fraction (nHFrEF) patients.Methods:This was a prospective registry study. nHFrEF patients admitted to Zhongshan Hospital affiliated with Fudan University from December 2021 to December 2023 were enrolled. According to coronary flow reserve (CFR) or reactive congestion index (RHI), enrolled patients were divided into coronary microvascular endothelial dysfunction (CMD) group (CFR<2.5) and no CMD group (CFR≥2.5) or peripheral microvascular endothelial dysfunction (MED) group (RHI<1.67) and no MED group (RHI≥1.67). Patients′ general information, laboratory and auxiliary examination data were collected. Univariate and multivariate logistic regression were used to analyze the influencing factors of CMD and MED in nHFrEF patients, and Spearman correlation analysis was used to evaluate the correlation between MED and CMD.Results:A total of 142 nHFrEF patients were enrolled, aged 69.0 (59.0, 74.0) years, with a male proportion of 66.9% (95/142). The grouping results were as follows: (1) According to CFR, there were 73 cases in the CMD group and 69 cases in the no CMD group; (2) According to RHI, there were 57 cases in the MED group and 85 cases in the no MED group. The prevalence of CMD and MED in this study was 51.4% (73/142) and 40.1% (57/142), respectively. Univariate logistic regression analysis showed that increased heart rate, chronic kidney disease, atrial fibrillation, elevated N-terminal pro-B type natriuretic peptide levels, and increased urinary albumin/creatinine ratio were risk factors for CMD, while increased RHI was a protective factor for CMD; Atrial fibrillation is a risk factor for MED, while increased CFR is a protective factor for MED. Incorporating clinically significant variables from univariate analysis into multivariate analysis, the results showed that increased heart rate and elevated RHI remained risk and protective factors for CMD, respectively; increased CFR remains a protective factor for MED. Spearman correlation analysis showed that CFR was negatively correlated with lg urinary albumin/creatinine ratio, lg cardiac troponin T, lg N-terminal pro-B type natriuretic peptide, and heart rate; RHI is positively correlated with CFR.Conclusions:The prevalence of CMD and MED in nHFrEF patients is high, and the two have a certain positive correlation. Increased heart rate and RHI are risk and protective factors for CMD, respectively, while increased CFR is a protective factor for MED. MED may be a potential therapeutic target for nHFrEF patients.

Objective:To evaluate the prevalence, potential risk factors, and correlation between coronary and peripheral microvascular dysfunction in heart failure with non-reduced ejection fraction (nHFrEF) patients.Methods:This was a prospective registry study. nHFrEF patients admitted to Zhongshan Hospital affiliated with Fudan University from December 2021 to December 2023 were enrolled. According to coronary flow reserve (CFR) or reactive congestion index (RHI), enrolled patients were divided into coronary microvascular endothelial dysfunction (CMD) group (CFR<2.5) and no CMD group (CFR≥2.5) or peripheral microvascular endothelial dysfunction (MED) group (RHI<1.67) and no MED group (RHI≥1.67). Patients′ general information, laboratory and auxiliary examination data were collected. Univariate and multivariate logistic regression were used to analyze the influencing factors of CMD and MED in nHFrEF patients, and Spearman correlation analysis was used to evaluate the correlation between MED and CMD.Results:A total of 142 nHFrEF patients were enrolled, aged 69.0 (59.0, 74.0) years, with a male proportion of 66.9% (95/142). The grouping results were as follows: (1) According to CFR, there were 73 cases in the CMD group and 69 cases in the no CMD group; (2) According to RHI, there were 57 cases in the MED group and 85 cases in the no MED group. The prevalence of CMD and MED in this study was 51.4% (73/142) and 40.1% (57/142), respectively. Univariate logistic regression analysis showed that increased heart rate, chronic kidney disease, atrial fibrillation, elevated N-terminal pro-B type natriuretic peptide levels, and increased urinary albumin/creatinine ratio were risk factors for CMD, while increased RHI was a protective factor for CMD; Atrial fibrillation is a risk factor for MED, while increased CFR is a protective factor for MED. Incorporating clinically significant variables from univariate analysis into multivariate analysis, the results showed that increased heart rate and elevated RHI remained risk and protective factors for CMD, respectively; increased CFR remains a protective factor for MED. Spearman correlation analysis showed that CFR was negatively correlated with lg urinary albumin/creatinine ratio, lg cardiac troponin T, lg N-terminal pro-B type natriuretic peptide, and heart rate; RHI is positively correlated with CFR.Conclusions:The prevalence of CMD and MED in nHFrEF patients is high, and the two have a certain positive correlation. Increased heart rate and RHI are risk and protective factors for CMD, respectively, while increased CFR is a protective factor for MED. MED may be a potential therapeutic target for nHFrEF patients.

Objective:To explore the characteristics of nail fold microcirculation in hemodialysis patients and its correlation with cardiovascular events.Methods:The clinical data of 185 patients undergoing regular hemodialysis in Dongguan Donghua Hospital from January 2017 to December 2021 were retrospectively analyzed. Among them, there were 76 cases of cardiovascular events (cardiovascular events group) and 109 cases of no cardiovascular events (non-cardiovascular events group). The nail fold microcirculation detector was used to detect the nail fold microcirculation of the first row of capillaries in the nail fold dermal papilla of the left ring finger. The nail fold microcirculation indexes and morphology integral, flow integral, loop integral, total integral were recorded. The general information and laboratory indexes (peripheral venous blood) were recorded. The value of total integral of nail fold microcirculation in predicting the cardiovascular events in hemodialysis patients was evaluated using the receiver operating characteristics (ROC) curve.Results:The age, proportion of hypertension, proportion of diabetes, C-reactive protein (CRP), alkaline phosphatase and N-terminal pro-brain natriuretic peptide (NT-ProBNP) in cardiovascular events group were significantly higher than those in non-cardiovascular events group: 58 (44, 69) years vs. 49 (40, 63) years, 97.4% (74/76) vs. 83.5% (91/109), 43.4% (33/76) vs. 24.8% (27/109), 9.02 (2.73, 11.70) mg/L vs. 3.76 (1.28, 11.70) mg/L, 82 (75, 97) U/L vs. 72 (59, 82) U/L and 2 652 (1 020, 5 359) ng/L vs. 1 894 (780, 4 601) ng/L, the creatinine and triglyceride (TG) were significantly lower than those in non-cardiovascular events group: (961.95 ± 277.11) μmol/L vs. (1 058.93 ± 284.66) μmol/L and (1.73 ± 1.02) mmol/L vs. (2.27 ± 2.02) mmol/L, and there were statistical differences ( P<0.01 or <0.05). There were no statistical differences in gender composition, dialysis age, dialysis time, dialysis pathway, blood routine, serum iron, serum ferritin, total iron binding capacity, serum potassium, serum calcium, serum phosphorus, parathyroid hormone, urea nitrogen, albumin, total cholesterol, high-density lipoprotein cholesterol and low-density lipoprotein cholesterol between two groups ( P>0.05). There was statistical difference in erythrocyte aggregation between two groups ( P<0.05); there were no statistical differences in the number of vascular loops, diameter of input branch, diameter of output branch, length of loop, diameter of loop top, blood flow rate, clarity, condition of cross loop, condition of malformed loop, shape of nipple and subpapillary venous plexus between two groups ( P>0.05). The morphology integral and total integral in cardiovascular events group were significantly higher than those in non-cardiovascular events group: 1.8 (1.1, 3.1) scores vs. 1.4 (0.8, 2.5) scores and 4.2 (2.4, 6.1) scores vs. 3.1 (1.8, 5.2) scores, and there were statistical differences ( P<0.05); there were no statistical differences in flow integral and loop integral between two groups ( P>0.05). ROC curve analysis result showed that the area under the curve of the total integral of nail fold microcirculation for predicting cardiovascular events in hemodialysis patients was 0.590 (95% CI 0.506 to 0.673), the best cut-off value was 2.85 scores, the sensitivity was 69.7% and the specificity was 45.9%. Conclusions:The nail fold microcirculation disorder is more serious in hemodialysis patients with cardiovascular events. The nail fold microcirculation detection may help to predict cardiovascular disease.

Objective To study the application effect of quality control circle(QCC)in reducing the dissatisfaction rate of physical examination clients in health management center.Methods To establish QCC,selected the health check-up popula-tion in our hospital in September-2019 and March-2020,through the questionnaire investigation and analysis,compare the dis-satisfaction of the clients before and after the quality control circle.Results After carrying out QCC activities,the dissatisfaction of physical examination clients was significantly lower than that before QCC,and the difference was statistically significant(P＜0.05).Conclusion The activities of QCC in the health management center can effectively improve the quality of the physical examination work and reduce the dissatisfaction of the customers in the physical examination.It is of great significance to the health management.

The theory of "liver opens at the eyes" was first seen in Yellow Emperor's Internal Canon of Medicine， which is the ancient people's summary of the connection between the liver and the eyes. The theory of "liver opens at the eyes" suggests the characteristic of "co-damage and co-recover of liver and eyes". It has been found in clinical practice that liver diseases and eye diseases often occur together， and "liver and eyes co-recover" is an ideal choice. The key to achieving "liver and eyes co-recover" is to analyze its pharmacological material basis and mechanism. With the development of modern medicine， more and more evidence indicates that the liver and eyes have complex and close relationships in physiological and pathological aspects. In a pathological state， there is a phenomenon of "liver and eyes co-damage"， and after the intervention of traditional Chinese medicine， "liver and eyes co-recover" occurs. "Liver and eyes co-damage and co-recover" can be explained through the "co-material basis and co-action mechanism". On this basis， the research group tentatively proposed that the liver and eyes had "four common characteristics" （4CCs）， namely "co-damage， co-recover， co-material basis， and co-action mechanism" from the theoretical connotation of traditional Chinese medicine， clinical practice， and molecular biology. Additionally， the group also took the intervention of Prunella vulgaris， traditional Chinese medicine， for removing liver fire and improving eyesight on immune liver injury （ILI） and allergic conjunctivitis （AC） as examples to analyze 4CCs. This project aims to deeply analyze the scientific connotation of the theory of "liver opens at the eyes"， reveal the common characteristics and biological essence of liver and eyes， explore a new research paradigm of "liver and eyes co-recover"， and provide a reference for the study of common problems of multi-organ associated diseases.

Objective:To provide insight into the clinical characteristics, therapy and prognosis of patients with radiation-induced brainstem injury after radiotherapy.Methods:From August 2013 to September 2021, 13 patients with radiation-induced brainstem injury were included in this study at Sun Yat-sen Memorial Hospital, and the general information and strategy of radiotherapy were collected. A retrospective analysis was adopted to investigate the clinical and radiological characteristics, treatment and clinical outcomes.Results:There were 13 cases in total, including 4 females and 9 males. The onset age of enrolled patients ranged from 29 to 66 years with an average of (48.15±10.23) years. The median dose targeted at tumor area was 70 Gy with in 33 fractions. The median interval between radiotherapy and the diagnosis of radiation-induced brainstem injury was 24 months. The common clinical manifestations included dysphagia, bucking dysarthria, dizziness and problem with balance. The MRI radiological features were hypointense on T1WI, hyperintense on T2WI, and irregularly enhanced with contrast. The median follow-up was 45 months. Seven cases got improvements, while 3 had no obvious efficacy and 3 cases died. No significant differences in prognosis were observed between those received traditional glucocorticoid and those received bevacizumab treatment( P=0.079). Conclusions:The common symptoms of radiation-induced brainstem injury were symptoms of posterior cranial nerves injury and ataxia. Lesions mostly happened in pons and medulla, with hypointense on T1WI and hyperintense on T2WI. Half of the patients have improved after treatment. There was no significant difference in prognosis between glucocorticoid and bevacizumab treatment.

Objective To evaluate the effectiveness and safety of mouse nerve growth factor in treating dysphagia in patients with nasopharyngeal carcinoma after radiotherapy.Methods Fifty-eight post-radiotherapy nasopharyngeal carcinoma patients with dysphagia were randomly divided into an observation group and a control group.Both groups received routine treatment,but the observation group was additionally injected with mouse nerve growth factor intramuscularly every day for four weeks.Before and after the 4 weeks of treatment,both groups were evaluated using Kubota's water drinking test,videofluoroscopy and the brief version of the WHO's Quality of Life scale.Results After 4 weeks,the patients in the observation group displayed significantly greater improvement in swallowing compared with the control group.There was a significant difference in the groups' average scores on the drinking water test and in the videofluoroscopy results.Moreover,the patients in the observation group had significantly higher quality of life scores than those in the control group,on average.Conclusions Mouse nerve growth factor may have a rapid and safe therapeutic effect on dysphagia induced by radiation.No obvious adverse reactions were observed.

Objective To explore the effects of the Chinese medicine, modified Erchen decoction, on the serum lipid spectrum of ApoE-/-mice, and to explore its possible anti-atherosclerotic mechanism.Methods Forty-four male 7-8-week old ApoE-/-mice were used in this experiment.ApoE-/-mouse models of atherosclerosis were generated by high-cholesterol diet for 4 weeks.And then, they were given simvastatin or modified Erchen decoction by gavage.The body weight of mice was recorded every week, The mice were sacrificed after treated with the drugs for 8 weeks continuously, and the plasma lipid was determined by enzymatic method.The aortic valves and arches were stained with oil red O to depict atherosclerotic plaques and liver structural changes of the mice were examined by pathology.Results Modified Erchen decoction lowered plasma lipid ( including TCHOL and LDL-C ) significantly ( P<0.01 ) .The body weight was increased in the mice of all groups, but it was more pronounced in the mice of model group than in the blank and modified Erchen decoction groups.The serum CHOL and LDL-C levels were significantly lowered in the modified Erchen decoction group (P<0.01).The area of atherosclerotic plaques in the aortic wall was significantly reduced in the mice of modified Erchen decoction group as shown by oil red O staining.The pathological changes of hepatocytes were less severe and the structure of hepatic lobules was better preserved in the mice of modified Erchen decoction group.Conclusions The Chinese medicin modified Erchen decoction can effectively reduce serum lipids, regulate lipid metabolism, and ameliorate the process of atherosclerosis in ApoE-/-mice.

The new educational system integrating both medical undergraduate and professional degrees,by integrating the curriculum system rationally,strengthening the clinical practice,innovating the assessment and management mode,establishes and enforces normative resident physician training system to cultivate high-starting point general practitioners led by medical colleges and provide qualified general practitioners,for the purpose of supporting the health reform successfully.