1.Effect of Wenyang Ligong Decoction on pregnancy outcomes after transcervical resection of adhesion in patients with intrauterine adhesions: a retrospective cohort study
Zheng GONG ; Rong DONG ; Linlin FAN ; Baojuan WANG ; Yuanyuan SONG ; Yinan ZHANG ; Cong WANG ; Yue GAO ; Jing WANG ; Yongqing HUANG ; Tian XIA
Chinese Journal of Reproduction and Contraception 2025;45(9):873-879
Objective:To investigate the impact of Wenyang Ligong Decoction on pregnancy outcomes after transcervical resection of adhesions (TCRA) in patients with intrauterine adhesions (IUA).Methods:A retrospective cohort study was conducted to collect clinical data from 151 patients with IUA who underwent TCRA in the Reproductive Medicine Department of the First Affiliated Hospital of Tianjin University of Traditional Chinese Medicine between January 2020 and January 2023. Patients were divided into a Traditional Chinese medicine (TCM) group (79 patients) and a control group (72 patients) based on whether they received Wenyang Ligong Decoction after TCRA. The TCM group received estrogen and progesterone sequential therapy post-surgery, combined with Wenyang Ligong Decoction for 2-3 menstrual cycles. The control only received sequential treatment with estrogen and progesterone.Pregnancy outcomes one year after surgery were compared between the two groups. After adjusting for confounding factors using multivariate Cox regression analysis, the effect of Wenyang Ligong Decoction on pregnancy outcomes after TCRA in patients with IUA was observed.Results:The live birth rate [54.43% (43/79)], the ongoing pregnancy rate [56.96% (45/79)], and the clinical pregnancy rate [52.03% (49/79)] were higher in the TCM group than in the control [26.39% (19/72), P<0.001; 30.56% (22/72), P=0.001;37.50% (27/72), P=0.003], with statistically significant differences. There were no statistically significant differences in early abortion rate and late abortion rate between the TCM group and the control (all P>0.05). According to the stratified analysis by preparation methods, in the natural conception group, the live birth rate [60.78% (31/51)], the ongoing pregnancy rate [62.75% (32/51)], and the clinical pregnancy rate [68.63% (35/51)] in the TCM group were significantly higher than those in control group [21.43% (12/56), P<0.001; 26.79% (15/56), P<0.001; 33.93% (19/56), P<0.001]; there were no statistically significant differences in early miscarriage rate and late miscarriage rate between the two groups (both P>0.05). In the assisted reproductive technology group, there were no statistically significant differences in live birth rate, ongoing pregnancy rate, clinical pregnancy rate, early miscarriage rate, and late miscarriage rate between the two groups (all P>0.05). According to the stratified analysis by age, in the <35-year-old patients, the live birth rate [66.00% (33/50)], the ongoing pregnancy rate [70.00% (35/50)], and the clinical pregnancy rate [74.00% (37/50)] in the TCM group were significantly higher than those in control group [41.30% (19/46), P=0.015; 47.83% (22/46), P=0.027; 54.35% (25/46), P=0.044]; there were no statistically significant differences in early miscarriage rate and late miscarriage rate between the two groups (both P>0.05). In the ≥35-year-old patients, the live birth rate [34.48% (10/29)], the ongoing pregnancy rate [34.48% (10/29)], and the clinical pregnancy rate [41.38% (12/29)] in the TCM group were significantly higher than those in control group [0%, P=0.001; 0%, P=0.001; 7.69% (2/26), P=0.004]; there were no statistically significant differences in early miscarriage rate and late miscarriage rate between the two groups (both P>0.05).Univariate Cox regression analysis showed that age, number of previous uterine cavity interventions, IUA score, degree of IUA, and endometrial thickness after TCRA were independent risk factors for live births, and age, IUA score, degree of IUA, intima thickness after TCRA, and treatment group were the influencing factors of persistent pregnancy (all P<0.05). After adjusting for confounding factors, multivariate Cox regression analysis showed that Wenyang Ligong Decoction significantly improved the live birth rate ( HR=3.19, 95% CI: 1.77-8.11, P=0.001) and the rate of continuous pregnancy ( HR=3.66, 95% CI: 1.80-7.48, P<0.001) in patients with IUA. Conclusion:Wenyang Ligong Decoction can significantly improve pregnancy outcomes after TCRA in patients with IUA.
2.Relationship between AT1-AA levels in uterine fluid and the thickness of endometrium in infertile women with chronic endometritis
Jiahui ZHOU ; Guifang YANG ; De SONG ; Yinan ZHANG ; Yao CHEN ; Xuemin LI ; Yana YU ; Yuhui SHI ; Wenli ZHU ; Xiaoli YANG
Chinese Journal of Obstetrics and Gynecology 2025;60(7):520-527
Objective:To investigate the relationship between the level of angiotensin Ⅱ type 1 receptor autoantibody (AT1-AA) in the uterine fluid and the thickness of endometrium in infertile women with chronic endometritis.Methods:A case-control study was conducted to select 122 patients who underwent hysteroscopy and endometrial tissue biopsy at Assisted Reproduction Center, Taiyuan Central Hospital due to infertility from March 2023 to January 2024 as the study subjects. According to the results of hysteroscopy and endometrial tissue biopsy, the patients were divided into 52 cases in the infertility group with normal endometrium (NE infertility group) and the chronic endometritis combined with infertility group (CE infertility group) with 70 cases. Enzyme-linked immunosorbent assay was used to detect the level of AT1-AA in uterine fluid of the two groups. General clinical data, AT1-AA absorbance value of uterine fluid and uterine related indexes of the two groups were analyzed, and the correlations between AT1-AA level and the variation of indexes were analyzed.Results:Gravidity (median: 1 vs 1; Z=7.029, P=0.030) and parity (median: 0 vs 0; Z=12.258, P=0.002) in CE infertility group were higher than those in NE infertility group. There was AT1-AA in the uterine fluid, and the level of AT1-AA in CE infertility group was significantly higher than that in NE infertility group (median: 2.07 vs 1.44; Z=3.099, P=0.029). The endometrial thickness of CE infertility group was lower than that of NE infertility group (median: 6.0 vs 7.0 mm; Z=-2.179, P=0.029), and there were no statistical differences in other indexes between the two groups (all P>0.05). Further correlation analysis showed that there were no correlation between the level of AT1-AA in uterine fluid and parity, endometrial thickness, gravidity in NE infertility group (all P>0.05). However, the level of AT1-AA in uterine fluid of CE infertility group was positively correlated with parity (Spearman′s r=0.339, P=0.004), and negatively correlated with endometrial thickness (Spearman′s r=-0.499, P<0.001), but not correlated with gravidity ( P>0.05). Conclusions:AT1-AA is present in the uterine fluid of infertile women. The elevated level of AT1-AA in uterine fluid of infertile women with CE is related to the thinning of the endometrium.
3.Effect of Wenyang Ligong Decoction on pregnancy outcomes after transcervical resection of adhesion in patients with intrauterine adhesions: a retrospective cohort study
Zheng GONG ; Rong DONG ; Linlin FAN ; Baojuan WANG ; Yuanyuan SONG ; Yinan ZHANG ; Cong WANG ; Yue GAO ; Jing WANG ; Yongqing HUANG ; Tian XIA
Chinese Journal of Reproduction and Contraception 2025;45(9):873-879
Objective:To investigate the impact of Wenyang Ligong Decoction on pregnancy outcomes after transcervical resection of adhesions (TCRA) in patients with intrauterine adhesions (IUA).Methods:A retrospective cohort study was conducted to collect clinical data from 151 patients with IUA who underwent TCRA in the Reproductive Medicine Department of the First Affiliated Hospital of Tianjin University of Traditional Chinese Medicine between January 2020 and January 2023. Patients were divided into a Traditional Chinese medicine (TCM) group (79 patients) and a control group (72 patients) based on whether they received Wenyang Ligong Decoction after TCRA. The TCM group received estrogen and progesterone sequential therapy post-surgery, combined with Wenyang Ligong Decoction for 2-3 menstrual cycles. The control only received sequential treatment with estrogen and progesterone.Pregnancy outcomes one year after surgery were compared between the two groups. After adjusting for confounding factors using multivariate Cox regression analysis, the effect of Wenyang Ligong Decoction on pregnancy outcomes after TCRA in patients with IUA was observed.Results:The live birth rate [54.43% (43/79)], the ongoing pregnancy rate [56.96% (45/79)], and the clinical pregnancy rate [52.03% (49/79)] were higher in the TCM group than in the control [26.39% (19/72), P<0.001; 30.56% (22/72), P=0.001;37.50% (27/72), P=0.003], with statistically significant differences. There were no statistically significant differences in early abortion rate and late abortion rate between the TCM group and the control (all P>0.05). According to the stratified analysis by preparation methods, in the natural conception group, the live birth rate [60.78% (31/51)], the ongoing pregnancy rate [62.75% (32/51)], and the clinical pregnancy rate [68.63% (35/51)] in the TCM group were significantly higher than those in control group [21.43% (12/56), P<0.001; 26.79% (15/56), P<0.001; 33.93% (19/56), P<0.001]; there were no statistically significant differences in early miscarriage rate and late miscarriage rate between the two groups (both P>0.05). In the assisted reproductive technology group, there were no statistically significant differences in live birth rate, ongoing pregnancy rate, clinical pregnancy rate, early miscarriage rate, and late miscarriage rate between the two groups (all P>0.05). According to the stratified analysis by age, in the <35-year-old patients, the live birth rate [66.00% (33/50)], the ongoing pregnancy rate [70.00% (35/50)], and the clinical pregnancy rate [74.00% (37/50)] in the TCM group were significantly higher than those in control group [41.30% (19/46), P=0.015; 47.83% (22/46), P=0.027; 54.35% (25/46), P=0.044]; there were no statistically significant differences in early miscarriage rate and late miscarriage rate between the two groups (both P>0.05). In the ≥35-year-old patients, the live birth rate [34.48% (10/29)], the ongoing pregnancy rate [34.48% (10/29)], and the clinical pregnancy rate [41.38% (12/29)] in the TCM group were significantly higher than those in control group [0%, P=0.001; 0%, P=0.001; 7.69% (2/26), P=0.004]; there were no statistically significant differences in early miscarriage rate and late miscarriage rate between the two groups (both P>0.05).Univariate Cox regression analysis showed that age, number of previous uterine cavity interventions, IUA score, degree of IUA, and endometrial thickness after TCRA were independent risk factors for live births, and age, IUA score, degree of IUA, intima thickness after TCRA, and treatment group were the influencing factors of persistent pregnancy (all P<0.05). After adjusting for confounding factors, multivariate Cox regression analysis showed that Wenyang Ligong Decoction significantly improved the live birth rate ( HR=3.19, 95% CI: 1.77-8.11, P=0.001) and the rate of continuous pregnancy ( HR=3.66, 95% CI: 1.80-7.48, P<0.001) in patients with IUA. Conclusion:Wenyang Ligong Decoction can significantly improve pregnancy outcomes after TCRA in patients with IUA.
4.Relationship between AT1-AA levels in uterine fluid and the thickness of endometrium in infertile women with chronic endometritis
Jiahui ZHOU ; Guifang YANG ; De SONG ; Yinan ZHANG ; Yao CHEN ; Xuemin LI ; Yana YU ; Yuhui SHI ; Wenli ZHU ; Xiaoli YANG
Chinese Journal of Obstetrics and Gynecology 2025;60(7):520-527
Objective:To investigate the relationship between the level of angiotensin Ⅱ type 1 receptor autoantibody (AT1-AA) in the uterine fluid and the thickness of endometrium in infertile women with chronic endometritis.Methods:A case-control study was conducted to select 122 patients who underwent hysteroscopy and endometrial tissue biopsy at Assisted Reproduction Center, Taiyuan Central Hospital due to infertility from March 2023 to January 2024 as the study subjects. According to the results of hysteroscopy and endometrial tissue biopsy, the patients were divided into 52 cases in the infertility group with normal endometrium (NE infertility group) and the chronic endometritis combined with infertility group (CE infertility group) with 70 cases. Enzyme-linked immunosorbent assay was used to detect the level of AT1-AA in uterine fluid of the two groups. General clinical data, AT1-AA absorbance value of uterine fluid and uterine related indexes of the two groups were analyzed, and the correlations between AT1-AA level and the variation of indexes were analyzed.Results:Gravidity (median: 1 vs 1; Z=7.029, P=0.030) and parity (median: 0 vs 0; Z=12.258, P=0.002) in CE infertility group were higher than those in NE infertility group. There was AT1-AA in the uterine fluid, and the level of AT1-AA in CE infertility group was significantly higher than that in NE infertility group (median: 2.07 vs 1.44; Z=3.099, P=0.029). The endometrial thickness of CE infertility group was lower than that of NE infertility group (median: 6.0 vs 7.0 mm; Z=-2.179, P=0.029), and there were no statistical differences in other indexes between the two groups (all P>0.05). Further correlation analysis showed that there were no correlation between the level of AT1-AA in uterine fluid and parity, endometrial thickness, gravidity in NE infertility group (all P>0.05). However, the level of AT1-AA in uterine fluid of CE infertility group was positively correlated with parity (Spearman′s r=0.339, P=0.004), and negatively correlated with endometrial thickness (Spearman′s r=-0.499, P<0.001), but not correlated with gravidity ( P>0.05). Conclusions:AT1-AA is present in the uterine fluid of infertile women. The elevated level of AT1-AA in uterine fluid of infertile women with CE is related to the thinning of the endometrium.
5.Effect of tourniquet on hidden blood loss and knee joint swelling in total knee arthroplasty
Xiuwei ZHANG ; Yinan LI ; Dacheng LIU ; Zijian SONG ; Qiang ZHANG ; Zhengdao LI
Journal of Navy Medicine 2025;46(1):77-82
Objective To investigate the effects of different use methods of tourniquet on hidden blood loss and knee joint swelling in total knee arthroplasty(TKA),and to explore its potential benefits for postoperative rehabilitation.Methods A prospective study was conducted from March 2018 to March 2023 in Xuzhou Municipal Hospital Affiliated to Xuzhou Medical University,involving 131 patients who underwent TKA.The patients were divided into three groups based on the method of tourniquet use:44 patients routinely used a tourniquet in group A,48 patients only used a tourniquet during the application of bone cement in group B,and 39 patients did not use tourniquet in group C.Operation time,dressing changes,intraoperative blood loss,total blood loss,explicit blood loss,hidden blood loss,percentage of hidden blood loss,postoperative blood transfusion,hemoglobin(Hb),hematocrit(HCT),C-reactive protein(CRP),and creatine kinase(CK)were compared among groups.The pain and functional recovery were evaluated by visual analogue scale(VAS)and knee society clinical rating system(KSS)before surgery,and 3 days,1 month,and 3 months after surgery.The degree of limb swelling and the range of motion of the knee were also compared among groups.Results Group A had shorter operation time and less frequency of postoperative dressing changes than the other two groups(P<0.05).The hidden blood loss and total blood loss in group A were significantly less than those in group C(P<0.05),and the hidden blood loss and total blood loss volume in the three groups from low to high was group A
6.Clinical advances of dual-pathway antithrombotic therapy in peripheral artery disease
Jiuyi SONG ; Nan SHEN ; Hai WANG ; Yinteng CHU ; Ruzhou CAO ; Qihong NI ; Yinan LI ; Lan ZHANG
Journal of Interventional Radiology 2025;34(11):1271-1274
Peripheral artery disease(PAD),commonly encountered in vascular surgery,predominantly affects the lower limbs and presents with ischemic symptoms resulting from atherosclerosis.It carries risks of adverse limb events and cardiovascular events.Antithrombotic therapy remains a cornerstone in the management of PAD.This article reviews the evidence and research progress regarding dual-pathway antithrombotic therapy for PAD.Multiple clinical trials have demonstrated that,compared to single antiplatelet therapy,dual-pathway antithrombotic therapy significantly reduces the risks of major adverse limb events and major adverse cardiovascular events without a significant increase in bleeding risk.For high-risk patients,such as those with advanced age,multivessel disease,comorbid coronary artery disease,or those undergoing endovascular revascularization,the benefits of dual-pathway antithrombotic therapy are particularly pronounced.Current clinical guidelines have incorporated dual-pathway antithrombotic therapy into their recommendations,standardized criteria for identifying the most appropriate patient populations remain lacking.Despite its advantages in reducing adverse events,its long-term safety profile and optimal target populations warrant further investigation.
7.Association between long-term exposure to ambient ozone and sperm quality in Shandong Province
Yinan QU ; Wenkai HAN ; Xiaohui SONG ; Qi ZHAO ; Wei MA ; Li WANG
Chinese Journal of Preventive Medicine 2024;58(5):592-598
Objective:To evaluate the association between long-term exposure to ambient ozone (O 3) and sperm quality. Methods:From January 1, 2014, to December 31, 2019, healthy sperm donors were recruited through the Human Sperm Bank of Shandong University Affiliated Reproductive Hospital. A total of 37 977 sperm donation data from 2 971 healthy volunteers were analyzed. The average annual O 3 concentration (0.01°× 0.01°) was matched according to household address. A multivariate mixed-effect model was used to analyze the exposure-response relationship between the average O 3 exposure concentration and sperm quality in the previous year, with each donor as a random intercept. All results were presented as % changes with 95% confidence intervals ( CIs) for all sperm parameters associated with 10 μg/m 3 increases in O 3. The effects of individual characteristics on the association between O 3 and sperm quality were evaluated by stratified analysis. Results:The average O 3 concentration in the year before semen collection was (107.09±7.50) μg/m 3. Each 10 μg/m 3 increase in O 3 was associated with declined sperm concentration (-3.12%, 95% CI:-4.55%, -1.67%), total sperm count (-5.21%, 95% CI:-7.28%, -3.09%), total sperm motility (-1.49%, 95% CI:-2.37%, -0.61%), progressive motility (-2.53%, 95% CI:-3.78%, -1.26%), total motile sperm count (-5.82%, 95% CI:-8.17%, -3.41%), and progressively motile sperm count (-6.22%, 95% CI:-8.73%, -3.64%). Men aged 30 and above, obese, and with lower education levels might be more susceptible to the influence of O 3 on sperm quality, but the difference was not statistically significant ( P>0.05). Conclusion:Long-term exposure to O 3 in Shandong Province is associated with a decrease in sperm quality.
8.Relationship between angiotensin Ⅱ type 1 receptor autoantibody levels in follicular fluid and follicular development in patients with PCOS
Yana YU ; De SONG ; Guifang YANG ; Yao CHEN ; Yinan ZHANG ; Xuemin LI ; Jiahui ZHOU ; Yuhui SHI ; Xiaoli YANG
Chinese Journal of Reproduction and Contraception 2024;44(9):922-929
Objective:To investigate the presence of angiotensin Ⅱ type 1 receptor autoantibodies (AT1-AA) in follicular fluid, and to investigate the correlation between AT1-AA levels and follicular development in follicular fluid of infertile patients with polycystic ovary syndrome (PCOS).Methods:A case-control study was conducted on 182 infertile patients who underwent in vitro fertilization/intracytoplasmic sperm injection and embryo transfer (IVF/ICSI-ET) at the Center for Reproductive Medicine of Taiyuan Central Hospital from June 2021 to October 2022. There were 80 cases in the fallopian tube factor group (tubal factor group) and 102 cases in PCOS infertility group (PCOS group). Univariate analysis was performed for the general data, ovulation induction indexes and embryonic laboratory indexes of the two groups. Enzyme-linked immunosorbent assay (ELISA) was used to detect the level of AT1-AA in follicular fluid on the day of oocyte retrieval. Pearson or Spearman was used to analyze the correlation between AT1-AA level and follicle development indexes, and multiple linear regression was used to adjust for interfering factors to analyze the correlation between AT1-AA level and embryonic laboratory indicators. Results:Body mass index [BMI, (25.29±3.25) kg/m 2], antral follicle count [AFC, 24.00 (17.00, 24.00)], basal serum teststerone [0.50 (0.36, 0.79) μg/L] and anti-Müllerian hormone [AMH, 4.92 (2.57, 8.28) μg/L] in PCOS group were significantly higher than those in tubal factor group [(23.01±2.92) kg/m 2, P<0.001; 15.00 (10.25, 19.00), P<0.001; 0.38 (0.20, 0.59) μg/L, P=0.019; 3.06 (2.19, 4.89) μg/L, P=0.006]. Moreover, the AT1-AA P/N value in follicular fluid in PCOS group [4.24 (2.07, 8.89)] was significantly higher than that in tubal factor group [2.96 (1.86, 4.84), P=0.027]. In addition, the age of menarche in PCOS group [13.00 (12.00, 14.00) years] was earlier than that in tubal factor group [14.00 (13.00, 15.00) years, P=0.007]. Prolactin level [12.09 (9.65, 16.64) μg/L] was lower than that of tubal factor group [16.27 (12.86, 20.94) μg/L, P=0.002], and there were no statistical differences in other indexes between the two groups (all P>0.05). Correlation analysis showed that the level of AT1-AA in follicular fluid of PCOS patients was negatively correlated with oocyte retrieval rate ( r=-0.159, P=0.019). The results of multiple linear regression analysis showed that AT1-AA level in follicular fluid was negatively correlated with oocyte retrieval rate ( β=-0.598, P=0.028) and normal fertilization rate ( β=-0.527, P=0.022) after adjusting for confounding factors. Conclusion:The level of AT1-AA in follicular fluid in PCOS patients is significantly higher than that in patients with tubal infertility, and is negatively correlated with oocyte retrieval rate and normal fertilization rate.
9.Relationship between angiotensin Ⅱ type 1 receptor autoantibody levels in follicular fluid and follicular development in patients with PCOS
Yana YU ; De SONG ; Guifang YANG ; Yao CHEN ; Yinan ZHANG ; Xuemin LI ; Jiahui ZHOU ; Yuhui SHI ; Xiaoli YANG
Chinese Journal of Reproduction and Contraception 2024;44(9):922-929
Objective:To investigate the presence of angiotensin Ⅱ type 1 receptor autoantibodies (AT1-AA) in follicular fluid, and to investigate the correlation between AT1-AA levels and follicular development in follicular fluid of infertile patients with polycystic ovary syndrome (PCOS).Methods:A case-control study was conducted on 182 infertile patients who underwent in vitro fertilization/intracytoplasmic sperm injection and embryo transfer (IVF/ICSI-ET) at the Center for Reproductive Medicine of Taiyuan Central Hospital from June 2021 to October 2022. There were 80 cases in the fallopian tube factor group (tubal factor group) and 102 cases in PCOS infertility group (PCOS group). Univariate analysis was performed for the general data, ovulation induction indexes and embryonic laboratory indexes of the two groups. Enzyme-linked immunosorbent assay (ELISA) was used to detect the level of AT1-AA in follicular fluid on the day of oocyte retrieval. Pearson or Spearman was used to analyze the correlation between AT1-AA level and follicle development indexes, and multiple linear regression was used to adjust for interfering factors to analyze the correlation between AT1-AA level and embryonic laboratory indicators. Results:Body mass index [BMI, (25.29±3.25) kg/m 2], antral follicle count [AFC, 24.00 (17.00, 24.00)], basal serum teststerone [0.50 (0.36, 0.79) μg/L] and anti-Müllerian hormone [AMH, 4.92 (2.57, 8.28) μg/L] in PCOS group were significantly higher than those in tubal factor group [(23.01±2.92) kg/m 2, P<0.001; 15.00 (10.25, 19.00), P<0.001; 0.38 (0.20, 0.59) μg/L, P=0.019; 3.06 (2.19, 4.89) μg/L, P=0.006]. Moreover, the AT1-AA P/N value in follicular fluid in PCOS group [4.24 (2.07, 8.89)] was significantly higher than that in tubal factor group [2.96 (1.86, 4.84), P=0.027]. In addition, the age of menarche in PCOS group [13.00 (12.00, 14.00) years] was earlier than that in tubal factor group [14.00 (13.00, 15.00) years, P=0.007]. Prolactin level [12.09 (9.65, 16.64) μg/L] was lower than that of tubal factor group [16.27 (12.86, 20.94) μg/L, P=0.002], and there were no statistical differences in other indexes between the two groups (all P>0.05). Correlation analysis showed that the level of AT1-AA in follicular fluid of PCOS patients was negatively correlated with oocyte retrieval rate ( r=-0.159, P=0.019). The results of multiple linear regression analysis showed that AT1-AA level in follicular fluid was negatively correlated with oocyte retrieval rate ( β=-0.598, P=0.028) and normal fertilization rate ( β=-0.527, P=0.022) after adjusting for confounding factors. Conclusion:The level of AT1-AA in follicular fluid in PCOS patients is significantly higher than that in patients with tubal infertility, and is negatively correlated with oocyte retrieval rate and normal fertilization rate.
10.Study on pathogenesis and laboratory diagnosis of a family with von Willebrand disease caused by c.1117C>T/c.7288-9T>G compound heterozygous mutation
Zhongzhou TAN ; Yao LU ; Linzi MIAO ; Yuanyuan LI ; Zijing ZHU ; Yinan SONG ; Yan GONG ; Chenxue QU
Chinese Journal of Clinical Laboratory Science 2024;42(2):121-125
Objective To explore the diagnosis of clinically suspicious von Willebrand disease(vWD)in a family and its pathogene-sis.Methods The pedigree information and the biological specimen were collected from the clinically suspected VWD patient and her family members(4 persons in total)in Peking University First Hospital.The levels of platelet count(PLT),activated partial thrombo-plastin time(APTT),vWF antigen(vWF:Ag),vWF activity(vWF:Ac)and FⅧ activity(FⅧ:C)were detected,and vWF risto-cetin cofactor(vWF:RCo)assay,ristocetin-induced platelet aggregation assay(RIPA)and vWF collagen binding(vWF:CB)assay were performed for phenotype diagnosis.The peripheral blood genomic DNAs were extracted from the proband and her family members to perform whole-exome sequencing for identifying the mutation of vWF gene,The mutation site was analyzed by using bioinformation tools to explore the pathogenesis of the proband.Results The APTT of proband(m 1)was slightly prolonged and her vWF:Ag,vWF:Ac,vWF:RCo and vWF:CB were significantly decreased.There was no obvious aggregation in RIPA assay(1.0 mg/mL and 1.25 mg/mL).In her father(Ⅱ3),APTT,FⅧ:C,vWF:Ag,vWF:Ac and vWF:CB were normal,but vWF:RCo was slightly decreased.In her mother(Ⅱ4),APTT,FⅧ:C,vWF:Ag,vWF:RCo and vWF:CB were all normal,but vWF:Ac significantly decreased.In her brother(Ⅲ2),APTT and FⅧ:C were normal,but vWF:Ag,vWF:Ac,vWF:RCo and vWF:CB were reduced to varying degrees.In all the family members(father,mother and brpther),no apparent aggregation in RIPA(1.0 mg/mL)was shown.Genetic analysis showed that the proband(Ⅲ1)carried a compound heterozygous mutation of vWF gene c.7288-9T>G and c.1117C>T,her father(Ⅱ3)carried vWF gene c.7288-9T>G heterozygous mutation,and vWF gene c.1117C>T heterozygous mutation was presented in both mother(Ⅱ4)and brother(Ⅲ2).Conclusion According to the results of laboratory tests,the proband was diagnosed as type 2A vWD.The hetero-zygous mutation in vWF gene c.1117C>T and c.7288-9T>G may be the molecular mechanism leading to type 2A vWD in the proband.

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