1.Relationship between endothelial progenitor cells and cardiovascular diseases in maintenance hemodialysis patients
Yaping ZHAN ; Huili DAI ; Weiming ZHANG ; Mingli ZHU ; Yan FANG ; Renhua LU ; Zhaohui NI ; Jiaqi QIAN
Chinese Journal of Nephrology 2016;32(12):881-887
Objective To investigate the relationship between the variation of endothelial progenitor cells (EPC) number and cardiovascular diseases (CVD) in maintenance hemodialysis (MHD) patients ,and discuss the function of EPC in the progression of CVD in MHD. Methods One hundred and fifteen MHD patients over 18 years whose dialysis vintage was over six months from Department of Nephrology, Renji Hospital, Shanghai Jiao Tong University School of Medicine were enrolled. They were divided into CVD group and non ? CVD group by medical history, electrokardiographie (EKG), cardiac ultrasound, peripheral vascular imaging and cardiovascular imaging. Peripheral blood (5 ml) was collected for detecting EPC number by flow cytometry as CD34/CD133/vascular endothelial growth factor receptor 2 (VEGFR2) cells. The EPC number between CVD group and non?CVD group was compared. The relationship between the decrease of EPC number and CVD risks in MHD patients was analyzed by logistic regression analysis. In a three?year follow?up, the death and new CVD events of the two groups were compared in order to discuss the relationship between EPC number and adverse events. Results Among 115 MHD patients, the average age was 61.57 ± 12.76, male/female was 71/44, the average dialysis vintage was (86.24 ± 56.31) months, the average Kt/V was 1.69 ± 0.29 and average ultrafiltration volume was (2.48 ± 0.90) L. Forty?four patients in 115 (38.3%) were with concurrent CVD. The EPC number in CVD group was significantly lower than that in non CVD group (P=0.015). The CVD group had higher serum phosphate (P=0.013), higher glycosylated hemoglobin (P<0.001), but serum calcium, intact parathyroid hormone (iPTH) and other indicators had no significant difference between two groups. Multiple Logistic regression analysis showed that older age (OR=1.061), history of diabetes (OR=9.796), dialysis vintage (OR=1.015), serum phosphate (OR=3.766), decrease of EPC number (OR=0.909) were the independent impact factors of CVD events in MHD patients. There were 22 patients of the 115 MHD patients had encountered a new CVD event in a three?year follow?up between December 2012 and December 2015, 9 patients from the CVD group and 13 patients from the Non?CVD group, and there was no significant difference between two groups (P=0.776). Nine patients from the CVD group and 7 patients from the Non?CVD group died in the follow?up, and there was no significant difference (P=0.111). Seventy?one MHD patients from the non?CVD group were divided into two groups by the median of EPC number. There were 3 patients in the higher EPC number group encountered CVD events and 10 patients in the lower EPC number group encountered CVD events, which had significant difference (P=0.024). Conclusion The decrease of circulating EPC number may be related with CVD events in MHD patients. Even adjusted by age, sex, diabetes, dialysis vintage and serum phosphate, decreased EPC number is still the independent risk factor of CVD events in MHD patients. The decrease of EPC number in MHD patients may be used to predict the occurrence of cardiovascular events.
2.Effects of changes of CD4+ CD25+ regulatory T cells on prognosis in elderly patients with septic shock
Bangchuan HU ; Renhua SUN ; Yunxiang XU ; Xianghong YANG ; Qian LI ; Fang HAN
Chinese Journal of Geriatrics 2010;29(8):617-620
Objective To investigate the changes of CD4+CD25+ regulatory T (Treg) cells in elderly patients with septic shock, and to evaluate the effects of the changes on 28-day mortality rate.Methods The 75 consecutive elderly patients with septic shock were recruited from December 2006to December 2008, and the general states and clinical characteristics of them were analyzed. The CD4+ CD25+ FoxP3 regulatory T cells and human leucocyte antigen DR (HLA-DR) were measured by flow cytometer at the 1st, 4th and 7-10th day of septic shock after being diagnosed. Results The patients were at an average age of (69.2±7.5) years, and the 28-day mortality rate was 53.3%.There were no significant differences in the percentage of CD4 + CD25+ FoxP3/CD4+T cells between the survivors and the non-survivors at the 1st day (1.76 % ±0.31% vs. 1.68 %±0.24 %, P>0.05)and the 4th day (1.94%±0.32% vs. 1.82% ±0.28%, P>0.05). However, compared with the survivors, non-survivors had a higher percentage of CD4+ CD25+ FoxP3/CD4+ T cells (2.65%±0.28% vs. 1.79%±0.27%, P<0.01) at the 7-10th day of septic shock after being diagnosed.Furthermore, from the 4th day to the 7-10th day, the expressions of monocyte HLA-DR in the nonsurvivors were significantly lower than in the survivors (P<0. 01), and they were inversely correlated with the percentage of CD4+ CD25+ FoxP3/CD4+ T cells at the 4th day (r=-0.39, P=0.023) and the 7-10th day (r= -0. 58, P<0. 01) respectively. The multiple logistic regression analysis showed that the percentages of CD4+ CD25+ FoxP3/CD4+ T cells (OR = 3.47, 95% CI: 1.33-10.0) and HLA-DR (OR= 0. 27, 95% CI: 0.14-0.73) were independent predictors of 28-day mortality rate.Conclusions Persistent higher percentage of CD4+ CD25+ Treg cells in the elderly patients with septic shock indicates that the patients are under the states of immunosuppression and have a higher risk ofmortality in intensive care unit at admission.
3.Effects of pressure control and positive end-expiratory pressure incremental method lung recruitment ;maneuvers on haemodynamics in piglets with acute lung injury induced by paraquat
Jinzhu WANG ; Renhua SUN ; Li LI ; Chao LAN ; Bangchuan HU ; Fang HAN ; Yang ZHENG
Chinese Critical Care Medicine 2016;28(10):906-910
Objective To discuss the effects of pressure control (PC) and positive end-expiratory pressure (PEEP) incremental method lung recruitment maneuver (RM) on haemodynamics in piglets with acute lung injury (ALI) induced by paraquat (PQ) poisoning. Methods The ALI/acute respiratory distress syndrome (ARDS) model was reproduced by intraperitoneal injection of 20% PQ (20 mL) in 10 healthy female piglets, and they were randomly divided into PC lung RM group (RM1 group) and PEEP incremental method lung RM group (RM2 group), with 5 piglets in each group. Heart rate (HR), mean arterial pressure (MAP), and cardiac index (CI) were monitored by pulse-indicated continuous cardiac output (PiCCO) monitoring before model reproduction (baseline), on the time of successfully set up of model and at 5, 15 and 30 minutes after RM. At the same time the arterial partial pressure of oxygen (PaO2) and arterial partial pressure of carbon dioxide (PaCO2) were recorded, and oxygenation index was calculated. Lung tissues were collected before model reproduction, on the time of successfully set up of model, and at 30 minutes after RM respectively, and pulmonary pathology changes were observed after hematoxylin and eosin (HE) staining under light microscopy. Results The HR, MAP, and PaCO2 on the time of successfully set up of model in both groups were increased obviously while CI, PaO2, and oxygenation index were decreased obviously as compared with those at baseline, all of which conformed to the expression of ALI/ARDS. With RM time extended, the HR in both groups was declined while MAP and CI were increased gradually. The HR and MAP at 5 minutes after RM of RM1 group were significantly lower than those of the RM2 group [HR (bpm): 126.8±5.2 vs. 134.0±3.8, MAP (mmHg, 1 mmHg = 0.133 kPa): 98.4±3.3 vs. 102.8±2.6, both P < 0.05]. The CI at 5 minutes and 15 minutes after RM of RM1 group was significantly higher than that of the RM2 group (mL·s-1·m-2: 56.7±5.0 vs. 46.7±6.7, 65.0±5.0 vs. 56.7±5.0, both P < 0.05). PaO2 and oxygenation index at 5 minutes after RM in both groups were significantly higher than those on the time of sucessfully set up of model. The PaO2 and oxygenation index were gradually decreased, and PaCO2 was increased with RM time extended, but no statistically significant differences at all time points were found between the two groups (all P > 0.05). The lung tissue in both groups showed a variety of pathological changes at 30 minutes after RM. The main performances were the loss of alveolar epithelial cells, the further wideness of alveolar interval and the distension of alveolar, and the part breakage of alveolar interval. The wideness of alveolar interval was more significant in RM2 group than that of RM1 group, and alveolar cleft was more common too. Conclusion Both PC and PEEP incremental method lung RM can improve the oxygenation of the piglets with ALI/ARDS induced by PQ, and the PC lung RM has less impact on haemodynamics.
4.Early diagnosis and therapeutic effect of rhubarb for septic acute kidney injury
Fang HAN ; Aiping WU ; Renhua SUN
China Modern Doctor 2015;(16):4-7
Objective To study early diagnostic index of septic acute kidney injury(AKI) and protective effect of rhubarb on septic AKI. Methods Sixty rats were randomly divided into the following 3 groups:model group (A), treatment group (B) and control group (C). Each group contains 20 rats. Rats from group A were received a intraperitoneal injection of lipopolysaccharide (LPS) at a dose of 5 mg/kg to induce AKI. Rats from group B were given rhubarb powder solution by oral administration immediately after LPS injection. Rats from group C were treated with the same volume of normal saline (NS) by intraperitoneal injection. Both serum level of creatinine (Scr) and urinary levels of Netrin-1 and KIM-1 of rats in 3 groups were detected in the different time points of treatment (0 h, 1 h, 6 h and 24 h). Results The levels of KIM-1 and CR in rats treated with LPS were obviously increased at the time point of 6 h (P<0.05). The urinary lev-el of Netrin-1 began to increase at the time point of 1 h and reached the highest level at the time point of 6 h, then gradually decreased at the time point of 24 h after the injection of LPS. In group B, the levels of Scr, Netrin-1 and KIM-1 were significantly lower as compared with group A (P<0.05). Conclusion The urinary level of Netrin-1 might has early diagnostic value in septic acute kidney injury. Rhubarb could protect the kidney of AKI model rats by de-creasing the serum level of Scr, urinary levels of Netrin-1 and KIM-1.
5.The incidence and risk factors associated with prognosis of acute kidney injury in hospitalized patients
Renhua LU ; Yan FANG ; Jiayuan GAO ; Hong CAI ; Mingli ZHU ; Minfang ZHANG ; Huili DAI ; Weiming ZHANG ; Zhaohui NI ; Jiaqi QIAN ; Yucheng YAN
Chinese Journal of Nephrology 2012;28(3):194-200
Objective To investigate the incidence and the prognosis of acute kidney injury (AKI) and to find out the risk factors associated with the outcome for better understanding and preventing AKI among inpatients. Methods All the hospitalized patients were screened by Lab Administration Network of Renji Hospital,Shanghai Jiaotong University School of Medicine from Jan.to Dec.2009.Study cohort was comprised of all the patients with AKI defined by Acute Kidney Injury Network (AKIN) and with complete clinical data recorded.The incidence,etiology and distribution characteristics, prognosis of AKI in hospitalized patients were retrospectively analyzed.Logistic regression analysis was used to investigate the risk factors of patients and renal outcome. Results A total of 934 patients with AKI were enrolled.The incidence of AKI in hospitalized patients was 2.41% (934/38 734).The ratio of male to female was 1.88∶1.Age was (60.82±16.94) years old.Increasing incidence could be seen with age rising.There was 63.4% AKI found in surgical department,35.4% in internal medicine department and 1.2% in obstetric and gynecologic department.Pre-AKI,acute tubular necrosis (ATN),acute glomerular and renal vascular injury (AGV),acute interstitial nephritis (AIN) and post-AKI were accounted for 51.7%,37.7%,3.8%,3.5% and 3.3% of the causes of AKI,respectively.On day 28,the survival rate was 71.8%,complete renal recovery rate was 65.7%,partial renal recovery rate was 16.9% and renal loss rate was 17.4% among all the patients with AKI.The mortality of AKI with stage Ⅰ,Ⅱ and Ⅲ among inpatients was 24.8%,31.2% and 43.7% respectively.Multivariate Logistic regression analysis showed that renal injury drugs [odds ratio (OR)=2.313],hypotension (OR=4.482),oliguria (OR =5.267),the number of failure organs except kidney (OR =1.376) and requiring renal replacement therapy (RRT)(OR=4.221) were independent risk factors for death among AKI patients.The number of failure organs except kidney (OR=1.529) and RRT (OR=2.117) were independent risk factors for kidney loss. Conclusions AKI is one of the most common complications in hospitalized patients.The mortality is high and renal outcome is poor after AKI.The prognosis is closely associated with the severity of AKI.Renal injury drugs,hypotension,oliguria,the number of failure organs except kidney and requiring RRT are independent risk factors for death among AKI patients,while the number of failure organs except kidney and requiring RRT are independent risk.factors for renal loss.
6.A comparative study on the treatment of degenerative lumbar spondylolisthesis by oblique interbody fusion and minimally invasive transforminal lumbar interbody fusion
Tianqiang QIU ; Renhua QIU ; Zhengbao PANG ; Banglei PANG ; Deyong CUI ; Fuguo YE ; Zhijun HU ; Wenbin XU ; Xiangqian FANG ; Shunwu FAN
Chinese Journal of Orthopaedics 2020;40(8):526-535
Objective:To compare the efficacy of oblique lumbar interbody fusion (OLIF) and minimally invasive interbody fusion (MI-TLIF) for degenerative lumbar spondylolisthesis.Methods:Data of 40 patients with I-II degree single level degenerative lumbar spondylolisthesis from January 2018 to December 2018 were retrospectively analyzed. According to the operation procedure, they were divided into two groups: OLIF group and MI-TLIF group, and each group had 20 patients. There were 15 males and 5 females in the OLIF group, aged 50.3±8.8 years; and there were 13 males and 7 females in the MI-TLIF group, aged 51.7±8.7 years. According to the Meyerding's grade system, there were 16 patients of type I in the OLIF group and 15 cases in the MI-TLIF group; and there were 4 patients of type II in the OLIF group and 5 cases in the MI-TLIF group. The operation time, intra-operative hemorrhage, postoperative drainage, recessive blood loss and albumin loss were recorded. The CRP and ESR on the third day after operation, the VAS score and ODI score before and after operation were recorded. The lumbar lordosis (LL), fused segmental lordosis (FSL) and disc height (DH) before and after operation were recorded. The time of getting out of bed and walking and the hospital stay were recorded. Paired t-test was used to analyze the data.Results:Forty patients successfully underwent the operation. The operation time of OLIF group was 96±20 min, with intraoperative blood loss of 61±32 ml and postoperative drainage volume of 18±8 ml. The operation time of MI-TLIF group was 132±26 min, with intraoperative blood loss of 262±102 ml and postoperative drainage volume of 95±42 ml; and there was statistical difference between the two groups ( t=4.901, 8.404, 8.064; P< 0.001). On the third day after operation, the occult blood loss was 139±47 ml in the OLIF group and 486±192 ml in the MI-TLIF group; the albumin loss was 4.2±1.9 g/L in the OLIF group and 10.2±3.9 g/L in the MI-TLIF group; CRP was 34±11 mg/L in the OLIF group and 106±39 mg/L in the MI-TLIF group; ESR was 41±15 mm/1 h in the OLIF group and 71±24 mm/1 h in the MI-TLIF group, and there all were statistical differences between the two groups ( t=7.838, 6.184, 7.983, 4.675; P< 0.001). The VAS scores were 2.2±1.5, 1.8±1.3 and ODI scores were 14%±11%, 59%±17%, respectively. There was no significant difference between the two groups. The LL were 33.41°±9.25°, 32.07°±9.54°, FSL were 11.59°±5.09°, 10.61°±4.56° and DH were 10.35±2.30 mm, 10.85±1.85 mm, respectively. There was no significant difference between the two groups. The follow-up time was 13.5±2.3 months in the OLIF group and 14.1±2.8 months in the MI-TLIF group. Three patients in the MI-TLIF group had radiation pain in the lower extremity on the third day after operation, which relieved after NSAID drugs and mannitol treatment. In the group of OLIF, the skin temperature of the left lower extremity increased in 1 case on the first day after operation, in which sympathetic chain injury was considered, and the patient recovered after 2.5 months; in the group of OLIF, the numbness in the front of the left thigh and the weakness of flexion of the hip was found in 3 cases, in which the edema or injury of the psoas major muscle was considered. Conclusion:Compared with MI-TLIF in the treatment of I, II degree single segment degenerative lumbar spondylolisthesis, OLIF has the advantages of shorter operation time, less intraoperative and postoperative blood loss, lower inflammation index, earlier time to get out of bed and shorter hospital stay. However, the outcomes of the two surgeries were similar.
7.Related risk factors for the prognosis of hospital-acquired carbapenem-resistant Klebsiella pneumoniae bloodstream infections in elderly patients with critical illness
Xianghong YANG ; Fang HE ; Zhiquan LYU ; Jun HONG ; Minhua CHEN ; Renhua SUN
Chinese Journal of Geriatrics 2020;39(5):530-534
Objective:To investigate the related risk factors for the prognosis of hospital-acquired carbapenem-resistant Klebsiella pneumoniae (CRKP) bloodstream infections in elderly patients with critical illness.Methods:Clinical data of elderly patients with nosocomial CRKP bloodstream infection in intensive care unit (ICU) from Jan. 2010 to Dec. 2016 were retrospectively analyzed. Patients were divided into the death and survival groups according to the prognosis. Clinical characteristics were compared between the two groups. Influencing factors for the prognosis of nosocomial CRKP bloodstream infections in elderly ICU patients were screened by multivariate Logistic regression analysis.Results:A total of 119 elderly ICU patients with nosocomial CRKP bloodstream infection were enrolled. The overall ICU mortality rate was 62.2% (74/119 patients), among which the ICU mortality was lower in patients treated with tigecycline than without tigecycline treatment (50.0% or 25/50 vs. 71.0% or 49/69, χ2=4.770, P=0.029). And the ICU mortality was lower in patients with combination therapy than with mono-therapy (54.9% or 39/71 vs. 72.9% or 35/48, χ2=3.940, P=0.047). Multivariate Logistic regression analysis revealed that the administration of vasoactive drugs ( OR=25.545, 95% CI: 9.743-52.242, P=0.001), and the resistance to tigecycline ( OR=8.990, 95% CI: 0.957-24.488, P=0.049) were independent risk factors for ICU mortality. While the early initiated appropriate antibiotics treatment, which was defined as using at least one susceptible antibiotic within 48 hours ( OR=0.081, 95% CI: 0.014-0.463, P=0.005), and appropriate antibiotics and adequate duration ( OR=0.785, 95% CI: 0.631-0.977, P=0.030), were protective factors for the good outcome. Conclusions:Nosocomial CRKP bloodstream infection in elderly ICU patients leads a high ICU mortality rate. The early initiated appropriate antibiotics treatment and optimum antibiotics duration could reduce the risk for death.
8.Predictors of response in patients with progressive IgA nephropathy treated with leflunomide and medium/low-dose corticosteroid
Lulin MIN ; Qin WANG ; Huihua PANG ; Minfang ZHANG ; Xiajing CHE ; Liou CAO ; Shan MOU ; Leyi GU ; Wei FANG ; Renhua LU ; Mingli ZHU ; Ling WANG ; Zanzhe YU ; Wenyan ZHOU ; Zhenyuan LI ; Jiaqi QIAN ; Zhaohui NI
Chinese Journal of Nephrology 2018;34(7):488-493
Objective To investigate the factors affecting the efficacy of leflunomide combined with medium/low dose corticosteroids in the treatment of progressive IgA nephropathy (IgAN).Methods Clinical and pathological parameters were collected retrospectively in patients of primary IgAN with proteinuria> 1.0 g/24 h and chronic kidney disease (CKD) stage 1-3 treated with leflunomide combined with medium/low dose corticosteroids in Ren Ji Hospital,School of Medicine,Shanghai Jiao Tong University from Jan 2005 to Dec 2010.According to the treatment effects,patients were divided into complete remission group and non-complete remission group.The biochemical and pathological indexes of the two groups were compared.Results A total of 42 patients were included.The remission rates at 3,6,9 and 12 months were 62%,64%,67% and 74%,respectively.Seventeen (40.5%) and fourteen (33.3%) patients achieved complete and partial remission after one-year treatment,and the remission rate remained stable within one year after withdrawal of drugs.The 24hour proteinuria was 1.50 (0.67,2.66) g,which was significantly reduced compared with the baseline 2.44 (1.36,3.74) g (P < 0.01).The decrease rate was 31.3%.There was a slight decrease in proteinuriawithin one year after withdrawal of drugs.Estimated glomerular filtration rate (eGFR) remained stable during the treatment and a year of follow-up.No serious adverse event was observed during the followup period.Among 31 responder patients,6(19.4%) patients relapsed.Logistic multivariate regression analysis suggested that the degree of renal interstitial inflammatory infiltration was an independent predictor of complete remission with one-year treatment of leflunomide combined with medium / low dose corticosteroids (HR=0.067,95% CI 0.008-0.535,P=0.011).Conclusions IgAN treated with leflunomide and medium/low dose corticosteroids can achieve remission in early stage,and the remission rate remains stable after withdrawal of drugs.It is a safe option for the treatment of IgAN.Renal interstitial inflammatory infiltration is an independent predictor of complete remission.
9.Prognostic roles of telomerase reverse transcriptase promoter mutation and 1p/19q co-deletion in newly-diagnosed O6-methylguanine-DNA methyltransferase promoter un-methylated/isocitrate dehydrogenase wild-type glioblastoma multiform
Qiong LU ; Xiwei ZHANG ; Yang WANG ; Xiaofang SHENG ; Xueyong WU ; Xiaobai WEI ; Hongyuan GAO ; Xiaofeng YIN ; Fang XIE ; Yueming ZHU ; Zhonghua JIN ; Zhenghua ZHANG ; Haimin WEI ; Dan LI ; Renhua HUANG ; Xianglian WANG ; Feng XIAO
Chinese Journal of Neuromedicine 2019;18(9):896-903
Objective To explore the prognostic values of telomerase reverse transcriptase promoter (TERTp) mutation and 1p/19q co-deletion in newly-diagnosed O6-methylguanine-DNA methyltransferase (MGMT) promoter un-methylated/isocitrate dehydrogenase (IDH) wild-type glioblastoma multiform (GBM). Methods A total of 82 patients pathologically newly-diagnosed MGMT promoter un-methylated/IDH wild-type GBM, admitted to our hospitals from March 2016 to November 2018, were included in this study. TERTp mutations (TERTp wild-type and TERTp mutation [C228 mutation and C250 mutation]) in GBM specimens were detected by PCR sequencing, 1p/19q co-deletion in GBM specimens was detected by fluorescence in situ hybridization (FISH), and clinical data, adverse reactions and prognoses of patients with different molecular typing were compared. Results There were 33 patients in the TERTp wild type group with mean age of 48 years, and 49 patients in the TERTp mutation group with mean age of 59 years; the difference of age was significant (P<0.05); there were no statistical differences in gender distribution, Karnofsky performance status (KPS) scores, tumor sites and surgical resection degrees between the two groups (P>0.05). There were 8 patients with 1p/19q co-deletion and 74 patients without 1p/19q co-deletion; no significant differences in above clinical parameters were noted between the two groups. There were no statistically significant differences in the incidences of bone marrow suppression, digestive tract response and fatigue, disease progression rate, or survival rate between patients from TERTp wild type group and TERTp mutation group, and between patients with 1p/19q co-deletion and patients without 1p/19q co-deletion (P>0.05). No significant differences in above clinical parameters, disease progression rate, and survival rate were noted between patients with C228 mutation and C250 mutation (P>0.05). Conclusion TERTp typing and 1p/19q co-deletion status do not have prognostic value in newly-diagnosed MGMT un-methylated/IDH wild-type GBM patients; patients with TERTp mutations have older age than wild-type patients; patients with C250 mutation trend to have higher survival rate than those with C228 mutation.
10.Analysis of the results of screening for carriers of monogenic genetic diseases in 604 couples of childbearing age
Qianyun LI ; Renhua WU ; Yuanyuan ZHANG ; Fang LIU ; Weisheng CHENG ; Jing YUAN
Acta Universitatis Medicinalis Anhui 2024;59(9):1653-1658
Objective To understand the carrying situation and common variation of pathogenic genes of single gene hereditary disease in childbearing age population in Anhui province,to explore the establishment of clinical application network and referral model of carrier screening in Anhui province,and to explore the application value of expansible carrier screening(expanded carrier screening,ECS)in clinic.Methods Samples were collected from 604 individuals of childbearing age,all exhibiting a normal phenotype and a family history of inherited dis-ease.These samples were obtained during the first trimester or early stages of pregnancy(≤13+6 weeks).Based on high-throughput sequencing and special PCR analysis techniques,pathogenic variants associated with 220 disea-ses were detected,and related genes were detected in the spouses of positive carriers.Results As of May 16,2023,604 tested samples had been collected,and 340 carriers of the target disease had been detected;The posi-tive rate of pathogenic variation detection was 56.29% ;A total of 499 pathogenic variants were detected,with each tested individual carrying 0-5 variants;216 cases,accounting for 35.76% ,carried a single gene recessive dis-ease pathogenic variation,which was the most common.There were 95 cases carrying two types of single gene re-cessive genetic disease pathogenic variation,accounting for 15.73% .As of now,302 couples have been reported,and a total of 7 high-risk couples have been found through screening,with a high-risk rate of 2.32% .There are a total of 5 pairs with autosomal recessive genetic pattern(both spouses carry the same pathogenic gene),and 2 pairs with X-linked genetic pattern(the female carries the X-linked pathogenic gene).Conclusion In this study,we obtained the overall carrier and clinical application of target diseases as well as the carrier rates of causative genes of common single-gene genetic diseases in 604 subjects who underwent ECS testing,which could provide scientific guidance for the establishment of a clinical application network and referral model for carrier screening in Anhui Province.