1.Study on the staging of cardiovascular-kidney-metabolic syndrome before onset and its impact on prognosis in patients with acute myocardial infarction
Dewei WU ; Mengjin HU ; Xiuling WANG ; Chenglong GUO ; Xuexue HAN ; Tianxing ZHANG ; Jinggang XIA
Chinese Journal of Postgraduates of Medicine 2025;48(3):209-214
Objective:To investigate the staging of cardiovascular-kidney-metabolic (CKM) syndrome before onset, and to analyze its impact on short-term prognosis in patients with acute myocardial infarction (AMI).Methods:The clinical data of 2 993 patients with AMI from January 2017 to December 2023 in Xuanwu Hospital, Capital Medical University were retrospectively analyzed. The basic information, baseline data, in-hospital data, cardiac-related examination results, CKM syndrome staging and in-hospital outcomes were recorded.Results:Among the 2 993 patients with AMI, the CKM syndrome stage 0 was in 23 cases (0.77%), stage 1 in 35 cases (1.17%), stage 2 in 2 015 cases (67.32%), stage 3 to 4 in 920 cases (30.74%). The male proportion, high density lipoprotein-cholesterol (HDL-C) and neutrophil-to-lymphocyte ratio in patients with CKM syndrome stage 0 and 1 were significantly higher than those in patients with CKM syndrome stage 2 and 3 to 4, the hypertension proportion, diabetes proportion, chronic kidney disease proportion, triglyceride (TG), glycated hemoglobin (HbA 1c) and creatinine were significantly lower than those in patients with CKM syndrome 2 stage 3 to 4, and there were statistical differences ( P<0.05); the body mass index (BMI) and non-ST-elevation myocardial infarction (NSTEMI) proportion in patients with CKM syndrome stage 0 were significantly lower than those in patients with CKM syndrome stage 1, 2 and 3 to 4, and there were statistical differences ( P<0.05); the cerebrovascular diseases proportion, Killip stage ≥3 proportion, N-terminal pro-brain natriuretic peptide (NT-proBNP) and left main coronary artery lesions proportion in patients with CKM syndrome stage 0, 1 and 2 were significantly lower than those in patients with CKM syndrome stage 3 to 4, and there were statistical differences ( P<0.05); the global registry of acute coronary events score (GRACE score) in patients with CKM syndrome stage 0 was significantly lower than that in patients with CKM syndrome stage 3 to 4, and there was statistical difference ( P<0.05). Although there were statistical differences in low density lipoprotein-cholesterol (LDL-C) and number of blood vessels involved among the four groups ( P<0.05), but pairwise comparisons showed no statistically significant differences ( P>0.05). There were no statistical differences in age, smoking history, hyperlipidemia, high-sensitivity C-reactive protein, uric acid, cardiac troponin I (cTnI) peak, left ventricular ejection fraction and left ventricular end-diastolic diameter among the four groups ( P>0.05). The incidence of in-hospital major adverse coronary events (MACE) was 10.76% (322/2 993). Among them, the incidence of MACE, all-cause mortality and longer length of stay in patients with CKM syndrome stage 0, 1 and 2 were significantly lower than those in patients with CKM syndrome stage 3 to 4: 4.35% (1/23), 8.57% (3/35) and 8.59% (173/2 015) vs. 15.76% (145/920), 0, 2.86% (1/35) and 2.38% (48/2 015) vs. 4.78% (44/920), (8.17 ± 3.87), (8.15 ± 5.32) and (8.89 ± 6.42) d vs. (9.81 ± 9.29) d, and there were statistical differences ( P<0.05); the incidences of acute kidney injury and atrial fibrillation in patients with CKM syndrome stage 0 and 1 were significantly lower than those in patients with CKM syndrome stage 2 and 3 to 4: 8.70% (2/23) and 8.57% (3/35) vs. 24.17% (487/2 015) and 34.35% (316/920), 0 and 0 vs. 3.52% (71/2 015) and 10.00% (92/920), and there were statistical differences ( P<0.05); there were no statistical differences in the incidences of ventricular tachycardia/ventricular fibrillation, cardiac arrest, mechanical complications and mechanical circulatory support among the four groups ( P>0.05). Conclusions:The severity of CKM syndrome is closely related to the occurrence of AMI. CKM patients with higher CKM stages have more severe AMI and poorer in-hospital prognosis. CKM syndrome staging can serve as a potential prognostic indicator for AMI patients.
2.Subtypes and duration of postoperative delirium in elderly hip fracture patients and its impact on survival rate
Xiuling WU ; Juhong LOU ; Zhenzhen ZHOU
Chinese Journal of Modern Nursing 2025;31(7):933-939
Objective:To explore the subtypes and duration of postoperative delirium in elderly hip fracture patients and analyze the impact of delirium in 6 months postoperative mortality.Methods:A convenience sampling method was used to select elderly hip fracture patients who underwent surgery at Taizhou Hospital of Zhejiang Province from April 2021 to October 2023. General information and cognitive status were assessed using a demographic survey and the Mini-Mental State Examination. Postoperative delirium was evaluated and recorded twice daily for one week after surgery, distinguishing delirium subtypes. The differences in all-cause mortality within 6 months post-surgery among patients with different delirium subtypes were compared. Time-dependent Cox regression analysis was conducted to examine the impact of each subtype and duration of delirium on mortality.Results:A total of 662 questionnaires were distributed, with 659 valid responses (valid response rate was 99.55%). Among the 659 elderly hip fracture patients, 249 cases (37.78%) experienced delirium. Based on the occurrence and subtype of postoperative delirium, patients were divided into four groups: non-delirium group ( n=410), hyperactive group ( n=95), hypoactive group ( n=66), and mixed group ( n=88). At the end of the 6 months follow-up, 91 patients had died. The mortality rates were 8.05% (33/410) in the non-delirium group, 11.58% (11/95) in the hyperactive group, 39.39% (26/66) in the hypoactive group, and 23.86% (21/88) in the mixed group, with statistically significant differences among the groups ( P<0.01). Time-dependent Cox regression analysis indicated that the duration of delirium was independently associated with 6 months postoperative mortality in the hypoactive group [ HR=2.420, P<0.01] and the mixed group [ HR=3.049, P<0.01] . Conclusions:The incidence of postoperative delirium in elderly hip fracture patients is moderately high, with hyperactive delirium being the most common subtype. Hypoactive and mixed delirium subtypes are independently associated with increased 6 months postoperative mortality. Prolonged delirium duration further increases the risk of death.
3.Study on the staging of cardiovascular-kidney-metabolic syndrome before onset and its impact on prognosis in patients with acute myocardial infarction
Dewei WU ; Mengjin HU ; Xiuling WANG ; Chenglong GUO ; Xuexue HAN ; Tianxing ZHANG ; Jinggang XIA
Chinese Journal of Postgraduates of Medicine 2025;48(3):209-214
Objective:To investigate the staging of cardiovascular-kidney-metabolic (CKM) syndrome before onset, and to analyze its impact on short-term prognosis in patients with acute myocardial infarction (AMI).Methods:The clinical data of 2 993 patients with AMI from January 2017 to December 2023 in Xuanwu Hospital, Capital Medical University were retrospectively analyzed. The basic information, baseline data, in-hospital data, cardiac-related examination results, CKM syndrome staging and in-hospital outcomes were recorded.Results:Among the 2 993 patients with AMI, the CKM syndrome stage 0 was in 23 cases (0.77%), stage 1 in 35 cases (1.17%), stage 2 in 2 015 cases (67.32%), stage 3 to 4 in 920 cases (30.74%). The male proportion, high density lipoprotein-cholesterol (HDL-C) and neutrophil-to-lymphocyte ratio in patients with CKM syndrome stage 0 and 1 were significantly higher than those in patients with CKM syndrome stage 2 and 3 to 4, the hypertension proportion, diabetes proportion, chronic kidney disease proportion, triglyceride (TG), glycated hemoglobin (HbA 1c) and creatinine were significantly lower than those in patients with CKM syndrome 2 stage 3 to 4, and there were statistical differences ( P<0.05); the body mass index (BMI) and non-ST-elevation myocardial infarction (NSTEMI) proportion in patients with CKM syndrome stage 0 were significantly lower than those in patients with CKM syndrome stage 1, 2 and 3 to 4, and there were statistical differences ( P<0.05); the cerebrovascular diseases proportion, Killip stage ≥3 proportion, N-terminal pro-brain natriuretic peptide (NT-proBNP) and left main coronary artery lesions proportion in patients with CKM syndrome stage 0, 1 and 2 were significantly lower than those in patients with CKM syndrome stage 3 to 4, and there were statistical differences ( P<0.05); the global registry of acute coronary events score (GRACE score) in patients with CKM syndrome stage 0 was significantly lower than that in patients with CKM syndrome stage 3 to 4, and there was statistical difference ( P<0.05). Although there were statistical differences in low density lipoprotein-cholesterol (LDL-C) and number of blood vessels involved among the four groups ( P<0.05), but pairwise comparisons showed no statistically significant differences ( P>0.05). There were no statistical differences in age, smoking history, hyperlipidemia, high-sensitivity C-reactive protein, uric acid, cardiac troponin I (cTnI) peak, left ventricular ejection fraction and left ventricular end-diastolic diameter among the four groups ( P>0.05). The incidence of in-hospital major adverse coronary events (MACE) was 10.76% (322/2 993). Among them, the incidence of MACE, all-cause mortality and longer length of stay in patients with CKM syndrome stage 0, 1 and 2 were significantly lower than those in patients with CKM syndrome stage 3 to 4: 4.35% (1/23), 8.57% (3/35) and 8.59% (173/2 015) vs. 15.76% (145/920), 0, 2.86% (1/35) and 2.38% (48/2 015) vs. 4.78% (44/920), (8.17 ± 3.87), (8.15 ± 5.32) and (8.89 ± 6.42) d vs. (9.81 ± 9.29) d, and there were statistical differences ( P<0.05); the incidences of acute kidney injury and atrial fibrillation in patients with CKM syndrome stage 0 and 1 were significantly lower than those in patients with CKM syndrome stage 2 and 3 to 4: 8.70% (2/23) and 8.57% (3/35) vs. 24.17% (487/2 015) and 34.35% (316/920), 0 and 0 vs. 3.52% (71/2 015) and 10.00% (92/920), and there were statistical differences ( P<0.05); there were no statistical differences in the incidences of ventricular tachycardia/ventricular fibrillation, cardiac arrest, mechanical complications and mechanical circulatory support among the four groups ( P>0.05). Conclusions:The severity of CKM syndrome is closely related to the occurrence of AMI. CKM patients with higher CKM stages have more severe AMI and poorer in-hospital prognosis. CKM syndrome staging can serve as a potential prognostic indicator for AMI patients.
4.Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability
Wanhong YIN ; Xiaoting WANG ; Ran ZHOU ; Dawei LIU ; Yan KANG ; Yaoqing TANG ; Xiaochun MA ; Jianguo LI ; Zhenjie HU ; Haitao ZHANG ; Wei HE ; Lixia LIU ; Wenjin CHEN ; Ran ZHU ; Jun WU ; Hongmin ZHANG ; Lina ZHANG ; Wenzhao CHAI ; Shihong ZHU ; Wangbin XU ; Rongqing SUN ; Xiangyou YU ; Tianjiao SONG ; Ying ZHU ; Hong REN ; Ai SHANMU ; Qing ZHANG ; Wei FANG ; Xiuling SHANG ; Liwen LYU ; Shuhan CAI ; Xin DING ; Heng ZHANG ; Guang FENG ; Lipeng ZHANG ; Bo HU ; Dong ZHANG ; Weidong WU ; Feng SHEN ; Xiaojun YANG ; Zhenguo ZENG ; Qibing HUANG ; Xueying ZENG ; Tongjuan ZOU ; Milin PENG ; Yulong YAO ; Mingming CHEN ; Hui LIAN ; Jingmei WANG ; Yong LI ; Feng QU ; Gang YE ; Rongli YANG ; Xiukai CHEN ; Suwei LI ; Juxiang WANG ; Yangong CHAO
Chinese Journal of Internal Medicine 2025;64(2):101-109
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.
5.Subtypes and duration of postoperative delirium in elderly hip fracture patients and its impact on survival rate
Xiuling WU ; Juhong LOU ; Zhenzhen ZHOU
Chinese Journal of Modern Nursing 2025;31(7):933-939
Objective:To explore the subtypes and duration of postoperative delirium in elderly hip fracture patients and analyze the impact of delirium in 6 months postoperative mortality.Methods:A convenience sampling method was used to select elderly hip fracture patients who underwent surgery at Taizhou Hospital of Zhejiang Province from April 2021 to October 2023. General information and cognitive status were assessed using a demographic survey and the Mini-Mental State Examination. Postoperative delirium was evaluated and recorded twice daily for one week after surgery, distinguishing delirium subtypes. The differences in all-cause mortality within 6 months post-surgery among patients with different delirium subtypes were compared. Time-dependent Cox regression analysis was conducted to examine the impact of each subtype and duration of delirium on mortality.Results:A total of 662 questionnaires were distributed, with 659 valid responses (valid response rate was 99.55%). Among the 659 elderly hip fracture patients, 249 cases (37.78%) experienced delirium. Based on the occurrence and subtype of postoperative delirium, patients were divided into four groups: non-delirium group ( n=410), hyperactive group ( n=95), hypoactive group ( n=66), and mixed group ( n=88). At the end of the 6 months follow-up, 91 patients had died. The mortality rates were 8.05% (33/410) in the non-delirium group, 11.58% (11/95) in the hyperactive group, 39.39% (26/66) in the hypoactive group, and 23.86% (21/88) in the mixed group, with statistically significant differences among the groups ( P<0.01). Time-dependent Cox regression analysis indicated that the duration of delirium was independently associated with 6 months postoperative mortality in the hypoactive group [ HR=2.420, P<0.01] and the mixed group [ HR=3.049, P<0.01] . Conclusions:The incidence of postoperative delirium in elderly hip fracture patients is moderately high, with hyperactive delirium being the most common subtype. Hypoactive and mixed delirium subtypes are independently associated with increased 6 months postoperative mortality. Prolonged delirium duration further increases the risk of death.
6.Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability
Wanhong YIN ; Xiaoting WANG ; Ran ZHOU ; Dawei LIU ; Yan KANG ; Yaoqing TANG ; Xiaochun MA ; Jianguo LI ; Zhenjie HU ; Haitao ZHANG ; Wei HE ; Lixia LIU ; Wenjin CHEN ; Ran ZHU ; Jun WU ; Hongmin ZHANG ; Lina ZHANG ; Wenzhao CHAI ; Shihong ZHU ; Wangbin XU ; Rongqing SUN ; Xiangyou YU ; Tianjiao SONG ; Ying ZHU ; Hong REN ; Ai SHANMU ; Qing ZHANG ; Wei FANG ; Xiuling SHANG ; Liwen LYU ; Shuhan CAI ; Xin DING ; Heng ZHANG ; Guang FENG ; Lipeng ZHANG ; Bo HU ; Dong ZHANG ; Weidong WU ; Feng SHEN ; Xiaojun YANG ; Zhenguo ZENG ; Qibing HUANG ; Xueying ZENG ; Tongjuan ZOU ; Milin PENG ; Yulong YAO ; Mingming CHEN ; Hui LIAN ; Jingmei WANG ; Yong LI ; Feng QU ; Gang YE ; Rongli YANG ; Xiukai CHEN ; Suwei LI ; Juxiang WANG ; Yangong CHAO
Chinese Journal of Internal Medicine 2025;64(2):101-109
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.
7.Evaluation of colistin sulfate administration regimen based on PK/PD theory and Monte Carlo simulation
Yingchao MA ; Xia WU ; Yongjing WANG ; Jianjun GU ; Xiuling YANG
China Pharmacy 2025;36(4):459-463
OBJECTIVE To evaluate the therapeutic efficacy of 5 regimens of colistin sulfate for common Gram-negative bacilli infection based on pharmacokinetics(PK)/pharmacodynamics(PD)theory and Monte Carlo simulation.METHODS Minimal inhibitory concentration(MIC)data of colistin sulfate against Acinetobacter baumannii,Pseudomonas aeruginosa,Klebsiella pneumoniae,Escherichia coli and Enterobacter cloacae in 2023 were collected from the China Antimicrobial Resistance Surveillance System.Monte Carlo simulation was conducted with the ratio of the area under the concentration-time curve from 0 to 24 hours in the unbound state to the MIC(fAUC0-24 h/MIC)≥15 as the target value,the probabilities of target attainment(PTA)of 5 regimens of colistin sulfate to achieve the target ratio were obtained at different MIC;and the expected population PTA,specifically the cumulative fraction of response(CFR),for each regimen within a specific bacterial population was further calculated,to evaluate the therapeutic efficacy of the five colistin sulfate regimens.RESULTS When bacterial MIC≤0.5 μg/mL,PTA of all colistin sulfate regimens(500 000 IU,q12 h;500 000 IU,q8 h;750 000 IU,q12 h;750 000 IU,q8 h;1 000 000 IU,q12 h)were all more than 90%.When bacterial MIC=1 μg/mL,PTA for regimen(750 000 IU,q8 h)against A.baumannii,K.pneumoniae,P.aeruginosa,E.coli and E.cloacae,and for regimen(1 000 000 IU,q12 h)against the other four bacterial species(excluding P.aeruginosa)remained above 90%.When bacterial MIC≥2 μg/mL,PTA of 5 colistin sulfate regimens were all lower than 90%.For E.coli,the CFR of only colistin sulfate regimen(500 000 IU,q12 h)was less than 90%;for K.pneumoniae,the CFR of only colistin sulfate regimen(750 000 IU,q8 h and 1 000 000 IU,q12 h)was greater than 90%;for the other three bacteria,CFR of 5 regimens were all less than 90%.CONCLUSIONS When the MIC of Gram-negative bacteria is less than 0.5 μg/mL,colistin sulfate regimen with a routine dose can be selected for treatment.When MIC was 1 μg/mL,an increase in the dosing amount or frequency is required.The empirical treatment of the other four bacterial infections excluding E.coli requires the use of off-label doses.
8.Midnight-Noon Ebb-Low Acupuncture by Hour-Prescription of Points Combined with Western Medicine for Parkinson's Disease with Restless Legs Syndrome:A Randomized Controlled Trial
Xiaodong LI ; Xiuling WU ; Meizhi CAI ; Jia SHI
Journal of Traditional Chinese Medicine 2024;65(16):1681-1686
ObjectiveTo observe the clinical effectiveness of midnight-noon ebb-low acupuncture by hour-prescription of points combined with western medicine for patients of Parkinson's disease with restless legs syndrome. MethodsSixty cases of Parkinson's disease with restless legs syndrome were divided into a control group and a treatment group randomly, with 30 cases in each group. The control group was given conventional western medicine treatment, and the treatment group was given the treatment of the control group with midnight-noon ebb-low acupuncture by hour-prescription of points based on Daling (PC 7), Zhongzhu (TE 3), Yanglingquan (GB 34), Zusanli (ST 36), and Sanyinjiao (SP 6) with perpendicular insertion, and Baihui (GV 20) with oblique insertion to the back,all of them used the manipulation of neutral reinforcement and reduction; Dudu (SP 2) and Taibai (SP 3) acupoints were inserted in accordance with the direction of the meridian travelling when the patients inhaled, and the needle was removed when exhaled; the time of acupuncture manipulation selected as Si time (9 AM-11 AM), the needle stay for 30 mins each time, once a day, 5 times a week, a total of 4 weeks of treatment. The international restless legs severity scale (IRLSS), Pittsburgh sleep quality index (PSQI), Parkinson's disease quality of life questionnaire (PDQ-39), and the International Movement Disorder Society unified Parkinson's disease rating scale part Ⅰ (MDS-UPDRS Ⅰ) were compared before and after the treatment, and the clinical effectiveness of the two groups were compared after the treatment. ResultsIRLSS scores, PSQI scores, PDQ-39 scores and MDS-UPDRS Ⅰ scores decreased in both groups after treatment compared to those before treatment (P<0.05 or P<0.01). After treatment, the total effective rate in the treatment group (83.3%, 25/30) was higher than that in the control group (60%, 18/30) (P<0.05). ConclusionAdding midnight-noon ebb-low acupuncture with hour-prescription of points on conventional western medicine treatment for Parkinson's disease with restless legs syndrome can significantly improve patients' clinical symptoms, sleep quality, quality of life, and enhance clinical effectiveness.
9.Immune reconstitution and influencing factors in HIV infected men who have sex with men with access to antiviral therapy in Guangxi Zhuang Autonomous Region from 2005 to 2021
Ni CHEN ; He JIANG ; Huanhuan CHEN ; Qiuying ZHU ; Xiuling WU ; Jianjun LI ; Nengxiu LIANG ; Qin MENG ; Xuanhua LIU ; Jinghua HUANG ; Wenxuan HOU ; Zhaoquan WANG ; Guanghua LAN
Chinese Journal of Epidemiology 2024;45(4):529-535
Objective:To analyze immune reconstitution and influencing factors in HIV infected men who have sex with men (MSM) with access to antiviral therapy (ART) in Guangxi Zhuang Autonomous Region (Guangxi) during 2005-2021.Methods:The data were collected from Chinese Disease Prevention and Control Information System. The study subjects were HIV infected MSM with access to the initial ART for ≥24 weeks in Guangxi from 2005 to 2021 and HIV RNA lower than the detection limit within 24 months. The proportion of infected MSM who had immune reconstitution after ART was calculated. Cox proportional hazard regression model was used to analyze the influencing factors of immune reconstitution. Software SPSS 24.0 was used for statistical analysis.Results:A total of 3 200 HIV infected MSM were enrolled, in whom 15.56 % (498/3 200) had no immune reconstitution, 14.78% (473/3 200) had moderate immune reconstitution, and the rate of complete immune reconstitution was 69.66% (2 229/3 200). The M ( Q1, Q3) of ART time for immune reconstitution was 12 (5, 27) months. Multivariate Cox proportional risk regression model analysis results showed that compared with those with initial ART at age ≥30 years, WHO clinical stage Ⅲ/Ⅳ illness, baseline BMI <18.50 kg/m 2 and baseline CD4 +T lymphocyte (CD4) counts <200 cells/μl, HIV infected MSM with initial ART at age <30 years, WHO clinical stageⅠ/Ⅱ illness, baseline BMI≥24.00 kg/m 2 and baseline CD4 counts ≥200 cells/μl were more likely to have complete immune reconstitution. Conclusions:In the HIV infected MSM in Guangxi, failures to achieve moderate and complete immune reconstitution were observed. Surveillance and ART regimen should be improved for key populations, such as those with older age and low baseline CD4 counts.
10.Fetal Costello syndrome caused by a de novo mutation in HRAS gene: a case report
Jing HE ; Yuying ZHUO ; Ting WU ; Xiuling DUAN ; Huan LIU ; Hongtao ZHANG
Chinese Journal of Perinatal Medicine 2024;27(11):952-955
This article reports a case of prenatal diagnosis of fetal Costello syndrome. At 11 weeks of gestation, the fetal nuchal translucency thickness was 2.5 mm. At 26 +1 weeks of gestation, ultrasound indicated that the fetal abdominal circumference was significantly enlarged, suggesting fetal overgrowth. Subsequent regular ultrasound follow-ups revealed polyhydramnios, enlarged fetal kidneys, and macroglossia after 30 +5 weeks of gestation. Whole-exome sequencing of the family detected a c.34G>A(p.Gly12Ser) mutation in the fetal HRAS gene, which was pathogenic and not present in either parent. Based on clinical manifestations, the fetus was diagnosed with Costello syndrome. After genetic counseling, the pregnant woman opted for termination of the pregnancy.

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