1.Outcomes of transcatheter transseptal mitral valve-in-valve replacement using Edward's SAPIEN 3 in high surgical risk patients-a multicenter study in China
Xiang CHEN ; Bin WANG ; Yi-wei XU ; Xiao-ping PENG ; Fan QIAO ; Xiang-wen LIANG ; Ke HAN ; Xiao-fei JIANG ; Xiang MA ; Wen-yi YANG ; Guo-sheng FU ; Mao-long SU ; Yan WANG
Chinese Journal of Interventional Cardiology 2025;33(2):79-86
Objective To evaluate the safety and efficacy of valve-in-valve transcatheter mitral valve replacement(ViV-TMVR)in patients with bioprosthetic valve degeneration who are at high surgical risk.Methods This study is a multi-center,retrospective cohort analysis of 20 consecutive patients who underwent transseptal ViV-TMVR using the Edwards SAPIEN 3 transcatheter heart valve(THV).The primary endpoints include technical success and procedural success,both defined according to the Mitral Valve Academic Research Consortium(MVARC)criteria,as well as mortality and functional change assessed based on New York Heart Association(NYHA)classification at 30-days and six months post-procedure.Clinical follow-up assessments are conducted at 30-days and six months.Results From February 2021 to October 2022,a total of 20 patients with symptoms of bioprosthetic valve degeneration were enrolled across nine sites in China.The patients had a mean age of(73.5±5.5)years,with 85.0%being females and 70.0%classified as NYHA class Ⅲ/Ⅳ.The study achieved a 100.0%technical success rate and a 90.0%procedural success rate finally.All patients remained alive during the 30-day follow-up period.However,six months post-intervention,two patients(10.0%)were re-hospitalized due to heart failure,and sadly,one of them(5.0%)died.None of the patients reported any adverse events related to ViV-TMVR during the follow-up period.Notably,there was a significant improvement in NYHA class compared to baseline(P=0.0004)at six-month follow-ups.Conclusions The transseptal ViV-TMVR technique proved to be highly successful and was associated with significant improvement in NYHA class function.These findings strongly suggest that it serves as a safe and efficient treatment alternative for high-risk patients suffering from bioprosthetic valve degeneration.
2.Clinicopathological features and molecular phenotypes of pleomorphic xanthoas-trocytoma:an analysis of 79 cases
Yu ZHANG ; Weiwei FU ; Yupeng CHEN ; Hong LI ; Weiping SHI ; Jianfeng ZHOU ; Mengyi ZHUANG ; Xinxin FAN ; Sheng ZHANG ; Xingfu WANG
Chinese Journal of Clinical and Experimental Pathology 2025;41(2):221-227,232
Purpose To analyze and discuss the clinicopathological,molecular pathological characteristics,as well as diagnostic and prognostic features of pleomorphic xanthoastrocytoma(PXA)according to the new WHO classifi-cation.Methods 79 cases of PXA were collected to analyze their pathological and clinical data.Immunohistochemis-try using the EnVision method was employed to detect the expression of CD34,ATRX,Rb,Olig-2,H3K27M,H3K27me3,IDH1 R132H,BRAF VE1 and Ki67.Sanger sequencing was used to detect mutations in H3F3A and IDH1/2.Fluorescence quantitative PCR was used to detect the BRAF V600E mutation and TERT promoter region al-terations.Fluorescence in situ hybridization(FISH)was used to detect CDKN2A and EGFR alterations.The relation-ship between clinical,pathological,molecular genetics data,and prognosis was analyzed.Results The patients'ages ranged from 9 to 69 years,with an average age of 36.4 years.Most tumors were located in the temporal lobe,frontal lobe and parietal lobe.Among the 79 cases,42 were classified as grade 2 PXA and 37 as grade 3 PXA.The tumor cells exhibited pleomorphic changes,with perivascular lymphocytic sheaths and eosinophilic bodies frequently ob-served.Grade 3 PXA exhibited more mitotic figures(average of 11.8/10 HPF),and was usually accompanied by nec-rosis,focal marginal infiltration and microvascular proliferation.Immunohistochemistry and molecular characteristics revealed frequent positivity for CD34,BRAF V600E mutation(68.1%),and CDKN2A homozygous deletion(36.8%)in PXA.Some cases showed TERT gene mutation and absent Rb expression.Univariate survival analysis in-dicated that necrosis,focal marginal infiltration,and CNS WHO grade were related to overall survival,while focal infil-tration and CNS WHO grade were the independent risk factors.Conclusion The prognosis of CNS WHO grade 3 PXA is wrose than that of grade 2 PXA.Accurate diagnosis of PXA requires the combination of the morphological features,immunohistochemical staining,and multiple molecular tests.
3.Feasibility and safety of open ventilation masks in vitrectomy for patients with PDR
Rui DAI ; Yuhao ZHU ; Suchang WANG ; Haiyang LIU ; Wei FAN ; Zhengpei ZHANG ; Sujuan JI ; Jie LI ; Aiqin SHENG ; Suyan LI
Chinese Journal of Experimental Ophthalmology 2025;43(11):1041-1045
Objective:To evaluate the feasibility and safety of open ventilation masks in patients with proliferative diabetic retinopathy (PDR) undergoing vitrectomy under local anesthesia.Methods:A randomized clinical trial was conducted.Eighty PDR patients (80 eyes) undergoing vitrectomy with local anesthesia were enrolled at Xuzhou Municipal Hospital from May to July 2024.Patients were randomly divided into an experimental group and a control group using a random number table method, with 40 cases (40 eyes) in each group.The experimental group received oxygen through an ophthalmic surgical open ventilation mask during the operation, while the control group used a traditional nasal cannula.The respiratory rate, heart rate, systolic blood pressure, diastolic blood pressure, and oxygen saturation before and after oxygen inhalation during the operation were compared between the two groups.Patient comfort level, airway patency, anxiety status, satisfaction level, operation time, surgical success rate, and incidence of intraoperative complications were also compared.This study adhered to the Declaration of Helsinki and the study protocol was appreed by the Ethics Committee of Xuzhou Municipal Hospital (No.2024-KY-065).Results:After oxygen inhalation during the operation, improvements in respiratory rate, heart rate, and oxygen saturation were greater in the experimental group than in the control group, with statistically significant differences ( t=4.671, 7.894, 1.588; all P<0.05).The Borg, and Hamilton Anxiety Scale scores were lower in the experimental group than in the control group, with statistically significant differences ( t=2.828, 4.880; both P<0.05), while the Bruggrmann Comfort Scale score was higher than that in the control group ( t=2.774, P<0.05).There were no statistically significant differences in operation time, surgical success rate or incidence of complications between the two groups ( t=0.595, P=0.554; χ2=0.346, 0.263; both P>0.05).Satisfaction rate of patients in the experimental group was 97.5%(39/40), which was higher than 85.0%(34/40) in the control group, with a statistically significant difference ( χ2=3.914, P=0.048). Conclusions:For PDR patients undergoing vitreous surgery under local anesthesia, using an ophthalmic surgical open ventilation mask for oxygen inhalation can effectively enhance respiratory comfort level, alleviate anxiety, maintain stable vital signs, improve overall comfort level, and ensure smooth surgery, without observed adverse reactions related to mask use, which makes it worthy of clinical promotion and application.
4.Analysis of the Influencing Factors and Short-Term Prognosis of Early Onset Coronary Heart Disease in Women in Wansheng District of Chongqing
Xiu-ping LOU ; Shi-cai LAN ; Hai-na FAN ; Yan WANG ; Sheng ZHANG ; Nong-hao WEN ; Rui-peng WEI
Progress in Modern Biomedicine 2025;25(20):3247-3253
Objective:To explore the incidence status,influencing factors and short-term prognosis characteristics of early onset coronary heart disease in women in Wansheng District of Chongqing,and to provide scientific basis for formulating regional prevention and treatment strategies.Methods:This study was a single-center retrospective study,100 coronary heart disease in women from January 2022 to December 2023 at Chongqing Wansheng Economic and Technological Development Zone People's Hospital were prospective selected,and they were divided into early onset group of 40 cases(≤ 65 years old)and late onset group of 60 cases(>65 years old)based on their age of onset.Another 60 healthy women who underwent physical examinations during the same period to exclude coronary heart disease were selected as the control group.Univariate factor and multiple factor logistic regression analysis were used to identify independent risk factors for early onset coronary heart disease in women.Draw receiver operating characteristic(ROC)curve for the subjects,the efficacy of risk factors in predicting early onset coronary heart disease based on the area under the curve(AUC)of ROC curve were evaluated.Patients were followed up for 1 year to observe the occurrence of major adverse cardiovascular events(MACE).Result:Among 100 fcoronary heart disease in women,the early onset group accounted for 40.00%(40/100).Univariate analysis showed that age,hyperlipidemia history,smoking history,hypertension history,family history,diabetes history,total cholesterol(TC),low-density lipoprotein cholesterol(LDL-C)were related to the early onset coronary heart disease.Multivariate analysis showed that,hyperlipidemia history(OR=4.124,95%CI:2.343-7.217),smoking history(OR=3.564),hypertension(OR=3.253),family history(OR=2.981),diabetes history(OR=2.873)were independent risk factors.ROC curve analysis results showed that joint evaluation had the best predictive value,with AUC of 0.829,which was higher than the AUC of individual evaluation for each factor.The incidence of MACE in the early onset group(45.00%)was significantly higher than that in the late onset group(P<0.05).Conclusion:Early onset coronary heart disease in women in Wansheng District of Chongqing is related to the hyperlipidemia history,smoking,hypertension history,family history and diabetes history.The incidence of MACE in early-onset patients followed up for 1 year is higher than that in late-onset patients.
5.Role of CCL2/CCR2 signaling pathway in electroacupuncture-induced reduction of spinal cord injury in rats
Xiang WANG ; Jianzhong HUO ; Wei FAN ; Jing GAO ; Yangyang SHENG ; Jie ZHANG ; Zhaoyu ZHANG
Chinese Journal of Anesthesiology 2025;45(5):574-580
Objective:To evaluate the role of the CC chemokine ligand 2/CC chemokine receptor 2 (CCL2/CCR2) signaling pathway in electroacupuncture (EA)-induced reduction of spinal cord injury (SCI) in rats.Methods:Sixty clean-grade healthy adult female Sprague-Dawley rats, weighing 210-250 g, were divided into 5 groups ( n=12 each) using a random number table method: sham operation group (group S), group SCI, SCI+ Anti-CCL2 group (group SCI+ A), SCI+ EA group (group SCI+ EA), and spinal cord injury+ EA+ rCCL2 group (group SCI+ EA+ R). The SCI model was established using the Allen method in anesthetized animals. Group S only underwent spinous process and laminectomy without damaging the spinal cord. In SCI+ A group, CCL2 neutralizing antibody 50 μg/kg was intrathecally injected at 0, 3 and 6 days after successful development of the SCI model. On the 7th day after the successful development of the SCI model, Jiaji, Dazhui and Mingmen acupoints were stimulated with a depth of 2 mm, voltage of 12-15 mV and frequency of 2 Hz for 30 min once a day for 7 consecutive days in SCI+ EA group. In SCI+ EA+ R group, recombinant rat CCL2 2.5 μg/kg was intrathecally injected at the site of injury at 0, 3 and 6 days after successful development of the SCI model, and the remaining treatments were similar to those in SCI+ EA group. At 1 day before developing the model, 0, 3, 7, 14, 21 and 28 days after developing the model, the mechanical paw withdraw threshold (MWT) and thermal paw withdrawal latency (TWL) were measured, and the motor function was assessed by BBB score. The rats were sacrificed after the final behavioral testing, and their spinal cord tissues were obtained for determination of the expression of CCL2 and CCR2 protein and mRNA (by Western blot or quantitative real-time polymerase chain reaction), the expression of GFAP (by immunofluorescence), contents of tumor necrosis factor-alpha (TNF-α), interleukin-1beta (IL-1β) and IL-6 (by enzyme-linked immunosorbent assay) and for examination of the pathological changes (using HE staining). Results:Compared with S group, the MWT and BBB scores were significantly decreased and the TWL was shortened at each time point after developing the model, the expression of CCL2 and CCR2 protein and mRNA and GFAP was up-regulated, and the contents of TNF-α, IL-1β and IL-6 were increased in SCI group ( P<0.05). Compared with SCI group, the MWT and BBB scores were significantly increased, and the TWL was prolonged at 7 days after developing the model in SCI+ A group, the MWT and BBB scores were significantly increased, and the TWL was prolonged at 14 days after developing the model in SCI+ EA group, and the expression of CCL2 and CCR2 protein and mRNA and GFAP was significantly down-regulated, and the contents of TNF-α, IL-1β and IL-6 were decreased in SCI+ A and SCI+ EA groups ( P<0.05). Compared with SCI+ EA group, the MWT and BBB scores were significantly decreased at 14 days after developing the model, the TWL was shortened, the expression of CCL2 and CCR2 protein and mRNA and GFAP was up-regulated, and the contents of TNF-α, IL-1β and IL-6 were increased in SCI+ EA+ R group ( P<0.05). Compared with SCI+ A and SCI+ EA groups, the histopathological injury were significantly attenuated in SCI group, and the histopathological injury was aggravated in SCI+ EA+ R group. Conclusions:The CCL2/CCR2 signaling pathway is involved in the process by which EA reduces SCI, and the mechanism is related to the inhibition of astrocyte activation, thereby reducing the inflammatory response.
6.Impact of ischemia time and storage periods on RNA quality of fresh-frozen breast cancer and esophageal cancer tissue samples in biobank
Yang-si ZHENG ; Xuan-hao LIN ; Fan LI ; Kun-sheng XIAO ; Xi-feng CHEN ; Chun-peng LIU ; Pei-xiu YAO ; Shao-hong WANG
Fudan University Journal of Medical Sciences 2025;52(3):437-445
Objective To investigate the effects of ischemia time and storage periods on RNA quality in fresh-frozen breast cancer(BC)and esophageal cancer(EC)tissue samples in order to establish evidence-based protocols for biobank sample management.Methods The tumor(T)and paired normal(N)tissue samples from 6 cases of BC and 6 cases of EC were collected and cryopreserved in Biobank,Shantou Central Hospital.Mirror paraffin-embedded tissues were simultaneously prepared into sections for morphological analysis.The samples were divided into two groups of<15 min and 15-30 min according to ischemia time,and RNA quality was analyzed at 4 storage periods of 8-10 months(T1),14-16 months(T2),26-28 months(T3)and 38-40 months(T4).Results In 96 analyzed samples,93.8%(90/96)exhibited high quality(RIN≥6),with 89.6%(43/48)in BC and 97.9%(47/48)in EC.Significant differences in RIN were observed between BC group and EC group(8.050 vs.8.600,P=0.009).In EC group,RIN value was significantly negatively correlated with RNA yield(P<0.001).Moreover,RIN values of tumor-normal pairs exhibited markedly significant differences(7.550 vs.9.000,P<0.001).In contrast,no significant difference was detected in BC group(8.200 vs.7.700,P=0.348).Statistical analysis showed that RIN value was positively correlated with 28S/18S(P<0.001),but had no correlation with tumor content(P=0.676)and necrotic content(P=0.055).Neither ischemia time(<15 min vs.15-30 min:8.200 vs.8.300,P=0.932)nor storage periods(T1-T4:8.400,7.700,8.450,8.600,P=0.163)compromised RNA quality.Conclusion Organ origin and tissue type could influence RNA quality of fresh-frozen tissue samples.However,limited ischemia time(≤30 min)and long-term storage period(38-40 months)do not adversely affect RNA quality in fresh-frozen breast cancer and esophageal cancer tissue samples.
7.Establishment of a rapid fluorescence immunochromatographic assay for avian influenza virus subtype H5N6
Hui LI ; Li LIU ; Yi-sheng ZHOU ; Zhi-hong ZHANG ; Qian-qian SI ; Ru-xia WANG ; Zhi-qiang DENG ; Yi-bing FAN ; Liang JIN ; Jie SUN ; Chun-hua YANG
Chinese Journal of Zoonoses 2025;41(3):243-248,283
In view of the characteristics of H5N6 subtype avian influenza virus(AIV)that it has both high pathogenicity and the risk of cross-species transmission,posing a serious threat to the poultry farming industry and public health security,in order to effectively prevent and control the spread of H5N6 avian influenza,a rapid,sensitive and specific detection technolo-gy was established in this study.The specific monoclonal antibodies against the neuraminidase N6 protein of avian influenza A virus subtype H5N6 were obtained through hybridoma and monoclonal antibody technology.These antibodies were coupled and labeled with carboxyl-functionalized fluorescent quantum dots,along with previously prepared specific antibodies against the hemagglutinin H5 protein.A rapid fluorescence immunochromatographic detection method for the H5N6 subtype of avian influ-enza virus was established according to the principle of double-antibody sandwich immunochromatography.This method a-chieved a detection sensitivity of 1 ng/mL for recombinant hemagglutinin H5 subtype protein and 0.1 ng/mL for recombinant neuraminidase N6 subtype protein.Moreover,the method exhibited no cross-reactivity with other influenza subtypes or patho-gens,such as Newcastle disease(ND),infectious bronchitis(IB),and infectious laryngotracheitis(ILT),thus demonstrating good specificity.The method effectively identified the highly pathogenic avian influenza virus H5 subtype and directly distin-guished the H5N6 subtype with good accuracy.The fluorescent quantum dot immunochromatographic typing detection method established herein met the sensitivity,specificity,and accuracy requirements for H5N6 subtype detection,and can be further used for rapid detection of the H5 and H5N6 subtypes of avian influenza virus.
8.Correlation between the expression of serum miR-1298-5p,miR-625-5p and miR-155 and the degree of Helicobacter pylori infection in elderly gastric cancer patients
Chunli TANG ; Shujuan FAN ; Sheng TAO ; Jianning LIU ; Feng SU ; Caiyun YUAN ; Meiling ZHU ; Ruimei ZHONG ; JiaoJiao CAO ; Yun WANG
International Journal of Laboratory Medicine 2025;46(2):151-156
Objective To explore the correlation between the expression of serum microRNA(miR)-1298-5p,miR-625-5p,and miR-155 with the degree of Helicobacter pylori(Hp)infection in elderly gastric cancer patients.Methods From January 2021 to November 2023,120 elderly patients with gastric cancer admitted to the hospital from January 2021 to November 2023 were selected as the gastric cancer group,and 130 non-gas-tric cancer patients who underwent gastroscopy were selected as the control group.The expression levels of miR-1298-5p,miR-625-5p and miR-155 in serum were detected by fluorescence quantitative PCR(qPCR).Car-bon 13 urea breath test was used to detect the positive rate of Hp infection in two groups,and the degree of Hp infection in elderly patients with gastric cancer were evaluated.Receiver operating characteristic(ROC)curve was applied to analyze the diagnostic value of serum miR-1298-5p,miR-625-5p,and miR-155 expression levels for Hp infection in elderly gastric cancer patients.Pearson method was applied to analyze the correlation between serum miR-1298-5p,miR-625-5p,miR-155 expression and positive rate of Hp infection in elderly gas-tric cancer patients.Results Compared with the control group,the expression levels of miR-1298-5p and miR-625-5p in serum of gastric cancer group decreased(P<0.05),while the positive rate of Hp infection and the expression level of serum miR-155 increased(P<0.05).The expression levels of serum miR-1298-5p and miR-625-5p in elderly gastric cancer patients with Hp grade Ⅰ,Ⅱ,and Ⅲ infection were lower than those without Hp infection,while the expression level of miR-155 was higher(P<0.05).Patients with poor differ-entiation,lymph node metastasis,and TNM stage Ⅲ-Ⅳ had lower expressions of serum miR-1298-5p and miR-625-5p(P<0.05),and higher expression of miR-155(P<0.05)than those with moderate-high differen-tiation,no lymph node metastasis,and TNM stage Ⅰ-Ⅱ.The expression levels of serum miR-1298-5p and miR-625-5p were negatively correlated with the positive rate of Hp infection in elderly patients with gastric cancer(r=-0.443,-0.386,both P<0.001),and the expression levels of serum miR-155 were positively correlated with the positive rate of Hp infection(r=0.525,P<0.001).The area under the curve(AUC)of serum miR-1298-5p,miR-625-5p and miR-155 combined diagnosis of Hp infection in elderly gastric cancer pa-tients was higher than that of single diagnosis(P<0.05).Conclusion The expression levels of miR-1298-5p and miR-625-5p in serum of elderly gastric cancer patients with Hp infection decrease,while the expression level of miR-155 increases.These three factors are related to the degree of Hp infection and have good diag-nostic value for the occurrence of Hp infection.
9.Role of CCL2/CCR2 signaling pathway in electroacupuncture-induced reduction of spinal cord injury in rats
Xiang WANG ; Jianzhong HUO ; Wei FAN ; Jing GAO ; Yangyang SHENG ; Jie ZHANG ; Zhaoyu ZHANG
Chinese Journal of Anesthesiology 2025;45(5):574-580
Objective:To evaluate the role of the CC chemokine ligand 2/CC chemokine receptor 2 (CCL2/CCR2) signaling pathway in electroacupuncture (EA)-induced reduction of spinal cord injury (SCI) in rats.Methods:Sixty clean-grade healthy adult female Sprague-Dawley rats, weighing 210-250 g, were divided into 5 groups ( n=12 each) using a random number table method: sham operation group (group S), group SCI, SCI+ Anti-CCL2 group (group SCI+ A), SCI+ EA group (group SCI+ EA), and spinal cord injury+ EA+ rCCL2 group (group SCI+ EA+ R). The SCI model was established using the Allen method in anesthetized animals. Group S only underwent spinous process and laminectomy without damaging the spinal cord. In SCI+ A group, CCL2 neutralizing antibody 50 μg/kg was intrathecally injected at 0, 3 and 6 days after successful development of the SCI model. On the 7th day after the successful development of the SCI model, Jiaji, Dazhui and Mingmen acupoints were stimulated with a depth of 2 mm, voltage of 12-15 mV and frequency of 2 Hz for 30 min once a day for 7 consecutive days in SCI+ EA group. In SCI+ EA+ R group, recombinant rat CCL2 2.5 μg/kg was intrathecally injected at the site of injury at 0, 3 and 6 days after successful development of the SCI model, and the remaining treatments were similar to those in SCI+ EA group. At 1 day before developing the model, 0, 3, 7, 14, 21 and 28 days after developing the model, the mechanical paw withdraw threshold (MWT) and thermal paw withdrawal latency (TWL) were measured, and the motor function was assessed by BBB score. The rats were sacrificed after the final behavioral testing, and their spinal cord tissues were obtained for determination of the expression of CCL2 and CCR2 protein and mRNA (by Western blot or quantitative real-time polymerase chain reaction), the expression of GFAP (by immunofluorescence), contents of tumor necrosis factor-alpha (TNF-α), interleukin-1beta (IL-1β) and IL-6 (by enzyme-linked immunosorbent assay) and for examination of the pathological changes (using HE staining). Results:Compared with S group, the MWT and BBB scores were significantly decreased and the TWL was shortened at each time point after developing the model, the expression of CCL2 and CCR2 protein and mRNA and GFAP was up-regulated, and the contents of TNF-α, IL-1β and IL-6 were increased in SCI group ( P<0.05). Compared with SCI group, the MWT and BBB scores were significantly increased, and the TWL was prolonged at 7 days after developing the model in SCI+ A group, the MWT and BBB scores were significantly increased, and the TWL was prolonged at 14 days after developing the model in SCI+ EA group, and the expression of CCL2 and CCR2 protein and mRNA and GFAP was significantly down-regulated, and the contents of TNF-α, IL-1β and IL-6 were decreased in SCI+ A and SCI+ EA groups ( P<0.05). Compared with SCI+ EA group, the MWT and BBB scores were significantly decreased at 14 days after developing the model, the TWL was shortened, the expression of CCL2 and CCR2 protein and mRNA and GFAP was up-regulated, and the contents of TNF-α, IL-1β and IL-6 were increased in SCI+ EA+ R group ( P<0.05). Compared with SCI+ A and SCI+ EA groups, the histopathological injury were significantly attenuated in SCI group, and the histopathological injury was aggravated in SCI+ EA+ R group. Conclusions:The CCL2/CCR2 signaling pathway is involved in the process by which EA reduces SCI, and the mechanism is related to the inhibition of astrocyte activation, thereby reducing the inflammatory response.
10.A preliminary study of apolipoprotein B assay combined with whole exome sequencing for accurate diagnosis of hyperlipidemia
Chang ZHAO ; Fang ZHENG ; Xueping QIU ; Liang CAO ; Fan WANG ; Ruiyang ZHU ; Daoxi QI ; Shuyang SHENG
Chinese Journal of Laboratory Medicine 2025;48(7):895-901
Objective:To investigate the use of apolipoprotein B (ApoB) diagnostic algorithm for hyperlipidemia typing combined with whole exome sequencing in the precise diagnosis of familial hyperlipidemia.Methods:A retrospective observational study was conducted by collecting clinical information on all patients who attended our hospital, and had their lipid levels tested from January 2023 to May 2024, including 440 patients with low-density lipoprotein cholesterol (LDL-C)>4.10 mmol/L. Family history, current lipid levels, medication use, and comorbidities were collected by telephone follow-ups. Among them, 10 patients had a family history of hyperlipidemia. Peripheral venous blood samples were collected from patients with a family history of hyperlipidemia, and whole exome sequencing was performed.Results:According to the Fredrickson typing of WHO, 10 patients (P1 to P10) could be categorized into two groups, of which only type Ⅱa could be excluded in 6 cases, and the typing could not be determined in 4 cases. The ApoB diagnostic algorithm of hyperlipidemia typing could classify patients P1 and P2 as type Ⅱa, patients P3 to P7, P9 and P10 as type Ⅱb, and patient P8 as type Ⅴ, respectively. Whole exome sequencing detected mutations in LDLR, PCSK9, C5AR2, KIF12, ALMS1, ABCG5, COL4A3, and MTTP genes.Conclusion:The ApoB diagnostic algorithm for hyperlipidemia can be used for accurate typing of hyperlipidemia, and ApoB could be recommended as a routine lipid testing parameter. The ApoB diagnostic algorithm for hyperlipidemia combined with whole exome sequencing could be used for the accurate typing of patients with familial hyperlipidemia and defining the underlying gene mutations.

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