1.Analysis of 8 children with TCF3:: HLF fusion gene positive acute lymphoblastic leukemia
Wei LIN ; Yuanyuan ZHANG ; Jiaole YU ; Ying WU ; Peijing QI ; Jia FAN ; Pengli HUANG ; Jixin XU ; Yujie GUAN ; Wei LIU ; Huyong ZHENG ; Tianyou WANG ; Ruidong ZHANG
Chinese Journal of Pediatrics 2025;63(8):896-900
Objective:To summarize the clinical characteristics and key points of diagnosis and treatment in children with TCF3::HLF fusion gene-positive acute lymphoblastic leukemia (ALL).Methods:A case series study was conducted. Clinical data of 8 children diagnosed with TCF3::HLF positive ALL at the Hematology Center of Beijing Children′s Hospital, Capital Medical University and the Hematology Oncology Department of Henan Children′s Hospital between January 2019 and January 2024 were collected. Descriptive analysis was performed on their clinical features, laboratory findings, treatment regimens and prognosis.Results:The cohort included 8 children (3 males and 5 females) with the age of 5.5 (3.5, 7.0) years. Bone pain was the primary clinical manifestation in 4 cases, with multi-site skeletal involvement in 4 cases, hypercalcemia in 5 cases, and coagulation abnormalities in 6 cases. Immunophenotyping revealed common B-cell lineage with myeloid markers in 7 cases and common B-cell phenotype in 1 case. All 8 children were positive for the TCF3::HLF fusion gene. Regarding treatment, 1 case abandoned therapy after diagnosis, while the remaining 7 cases received chemotherapy following the Chinese Children′s Leukemia Group-ALL2018 high-risk protocol. Only 1 case achieved minimal residual disease (MRD) negativity by day 33 of induction therapy. Among the 3 cases with MRD negativity before consolidation therapy, 1 case achieved it via conventional chemotherapy, while 2 cases required additional agents (venetoclax or blinatumomab). One case failed to achieve MRD negativity after consolidation therapy and later discontinued treatment (survival periods: 7months).Of the 4 cases who achieved MRD negativity after consolidation, 2 cases received conventional chemotherapy and 2 cases achieved negativity following chimeric antigen receptor T-cell therapy (CART). All 4 cases underwent hematopoietic stem cell transplantation (HSCT). Two cases in the CART combined with HSCT group survived as of the last follow-up (survival periods: 22 and 13 months). In the conventional chemotherapy combined HSCT group, 1 case relapsed and died (survival: 38 months), and 1 case died from transplant complications (survival: 11 months). The other 2 cases achieved MRD negativity before consolidation therapy but did not receive regular subsequent chemotherapy. After MRD recurrence, they underwent CART therapy without HSCT and remained alive at the last follow-up (survival periods: 49 and 12 months).Conclusions:Children with TCF3::HLF positive ALL often present with bone destruction accompanied by hypercalcemia and coagulopathy at initial diagnosis. This subtype of ALL shows poor response to conventional chemotherapy regimens, characterized by low early remission rates and high relapse risk even after HSCT. Better therapeutic outcomes have been observed with small molecule targeted drugs, immunotherapy and CART therapy.
2.The efficacy of blinatumomab in the treatment of pediatric B-cell acute lymphoblastic leukemia: a multicenter study
Weiling YAN ; Jun LU ; Hua WANG ; Lihua YU ; Huidi FENG ; Bai LI ; Wenguang JIA ; Jian WANG ; Wenting HU ; Xue TANG ; Jing FAN ; Yujie GUAN ; Xiaolan LI ; Yalan YOU ; Yongmin TANG ; Xiaojun XU
Chinese Journal of Pediatrics 2025;63(11):1194-1200
Objective:To investigate the efficacy and toxicity of blinatumomab in the first-line and second-line treatment of pediatric B-cell acute lymphoblastic leukemia (B-ALL).Methods:A multi-center retrospective cohort study was conducted to analyze clinical data from 323 pediatric B-ALL patients treated with blinatumomab across 14 hospitals in China from May 2021 to July 2023. Patients were divided into four groups based on the treatment phase and disease status when blinatumomab was used: relapsed/refractory group, post-consolidation minimal residual disease (MRD)-positive group, early MRD-positive group, and MRD-negative group. Blinatumomab for the relapsed/refractory group was considered as second-line treatment, while the other 3 groups as first-line treatment. The MRD negativity rate after treatment, the survival rates and the incidence of severe adverse events were compared across these groups. Patients who received blinatumomab for more than 7 days were included in the efficacy analysis. Survival analysis was performed using the Kaplan-Meier method, and Log-Rank test was used to compare the survival rates among groups.Results:Among the 323 patients, 191 (59.1%) were male, with the age of 6.2 (3.9, 10.5) years. There were 117 patients in the relapsed/refractory group, 62 cases in the post-consolidation MRD-positive group, 43 cases in the early MRD-positive group, and 101 cases in the MRD negative group. In the relapsed/refractory group, the complete remission rate and MRD negativity rate after one course of blinatumomab were 71.4% (35/49) and 81.5% (75/92) for the 49 children without complete remission and the 92 children with flow cytometry-positive MRD, respectively. In the post-consolidation MRD-positive group, the MRD negativity rates after one course of blinatumomab were 100.0% (27/27), 12/16 and 9/19 for patients with MRD positivity detected by flow cytometry, polymerase chain reaction and next-generation sequencing, respectively. In the early MRD-positive group, the MRD negativity rates were 96.7% (29/30) and 9/9 for flow cytometry and next-generation sequencing, respectively. The 2-year overall survival rate and event-free survival rate for the 319 children evaluable for efficacy were (90.6±1.7)% and (87.6±1.9)%, respectively, with the relapsed/refractory group showing significantly lower overall survival rates and event-free survival rate compared to the other groups ( χ2=21.40, 26.21,both P<0.001). Grade 3 or higher adverse events occurred in 128 cases (39.6%), with hematological toxicity observed in 101 cases, while cytokine release syndrome (CRS), infection, and neurotoxicity occurred in 11, 26 and 8 cases, respectively. In addition, there were statistically significant differences in the grade 3 or higher CRS among the four groups ( χ2=8.03, P<0.05). Conclusion:Blinatumomab can clear MRD more effectively and achieve superior survival outcomes when used as first-line treatment for pediatric B-ALL, with less CRS.
3.Effect and mechanism of polystyrene microplastics on prostate in male mice
Chun PAN ; Zhencheng FAN ; Runyang HONG ; Yujie SHI ; Hao CHEN
Chinese Journal of Tissue Engineering Research 2025;29(34):7353-7361
BACKGROUND:Microplastics are a common environmental pollutant that can cause damage to the gastrointestinal tract,liver and kidney,and reproductive system.However,little is known about the effects of microplastics on the prostate.OBJECTIVE:To investigate the effects of different charge-modified polystyrene microplastics on prostate tissues of male mice and its mechanism.METHODS:A total of 48 male BALB/c mice were randomly divided into a control group,an unmodified microplastic group,a negatively charged microplastic group,and a positively charged microplastic group using a random number table,with 12 mice in each group.The mice in the control group were given ddH2O by gavage;the mice in the unmodified microplastic group were given unmodified polystyrene microplastics by gavage,and the mice in the negatively charged microplastic group and the positively charged microplastic group were given negatively charged polystyrene microplastics and positively charged polystyrene microplastics by gavage,respectively,once a day for 4 consecutive weeks.The body weight,drinking water,and food intake of the mice were detected every week.After gavage,the prostate mass,prostate coefficient,prostate histopathological morphology,inflammatory factor expression,microplastic accumulation in the prostate tissue of the mice,and the mRNA and protein expressions of hypoxia-inducible factor 1α and vascular endothelial growth factor were compared among the groups of mice.RESULTS AND CONCLUSION:(1)With the prolongation of microplastic exposure time,the body weight of mice in the unmodified microplastics group and the positively charged microplastics exposure group was significantly suppressed.(2)After exposure to microplastics,they could enter the urinary system of mice,including prostate and bladder tissue.Among the mice in the positively charged microplastic group,the prostate mass and prostate coefficient increased most significantly.(3)Compared with the control group,the mass concentration and mRNA expression of interleukin 6,interleukin 1β,and tumor necrosis factorα were increased in the prostate tissue of the other three groups of mice(P<0.05).Among them,the positively charged microplastic group exhibited most obvious increase.(4)Hematoxylin-eosin staining showed that the prostate tissue of mice in the unmodified microplastic group,negatively charged microplastic group,and positively charged microplastic group showed obvious proliferation of prostate epithelial cells and matrix,a significant increase in acini,and infiltration of a large number of inflammatory cells.Masson and Sirius red staining showed that compared with the control group,the prostate tissue of mice in the other three groups had obvious fibrosis.Immunohistochemical staining showed that compared with the control group,angiogenesis in the prostate tissue of mice increased in the other three groups(P<0.05).(5)Compared with the control group,the mRNA and protein expressions of hypoxia-inducible factor 1αand vascular endothelial growth factor were increased in the prostate tissue of the other three groups of mice(P<0.05),among which the negatively charged microplastic group and the positively charged microplastic group exhibited more significant increase.(6)The results show that polystyrene microplastics can enhance the release of inflammatory factors in mouse prostate tissue,promote angiogenesis in prostate tissue by activating the hypoxia-inducible factor 1α/vascular endothelial growth factor signaling pathway,and provide nutrition support for prostate hyperplasia and fibrosis.
4.Application of next-generation sequencing technology for the investigation of immunoglobulin variable region characteristics and their prognostic significance in patients with chronic lymphocytic leukemia
Zhen GUO ; Huimin JIN ; Tonglu QIU ; Liying ZHU ; Yujie WU ; Hairong QIU ; Yan WANG ; Yi MIAO ; Hui JIN ; Lei FAN ; Jianyong LI ; Yi XIA ; Chun QIAO
Chinese Journal of Hematology 2025;46(3):261-268
Objective:To elucidate the genomic characteristics of the immunoglobulin (IG) heavy-chain variable region and light-chain variable region, the expression of subclones, and the prognostic significance in patients with CLL.Methods:Blood and/or bone marrow specimens were gathered from a cohort of 36 patients with CLL diagnosed at Jiangsu Province Hospital from December 2018 to May 2023, including 12 cases of B cell receptor (BCR) stereotyped patients. IG heavy-chain (IGH) and light-chain (IG Kappa [IGK] and IG lambda [IGL]) gene rearrangements were performed using next-generation sequencing (NGS) technology to analyze the characteristics and prognostic value in CLL.Results:NGS detection of IG variable region (IGHV) demonstrated a significant correlation and superior consistency with Sanger sequencing ( r=0.957, P < 0.001). Among the 36 patients, the IGH variant (IGHV) was observed in 9 (25.0%) but not in 27 (75.0%) participants. The incidence of the MYD88 mutation was higher among patients with mutated IGHV [1/27 (3.7%) vs 4/9 (44.4%), P=0.00]. A high incidence of trisomy 12 was observed in the IGHV #8/#8B subset [4/11 (36.4%) vs 1/25 (4.0%), P=0.023], which were more likely to develop Richter transformation [8/11 (72.7%) vs 4/25 (16.0%), P=0.002]. In the patient cohort, 36 individuals (36/36, 100.0%) used the IGK variable, whereas 15 individuals (15/36, 41.7%) employed the IGL variable (IGLV). IGLV3 - 21 reported the highest utilization rate in IGLV (5/15, 33.3%). Remarkably, patients with CLL with IGLV3-21 fragments were exclusively observed in the Binet C stage and Rai Phase Ⅲ-Ⅳ, with an incidence of del (13) (q14) at 60.0% (3/5). The median time to first treatment (TTFT) of patients with or without IGLV3 - 21 fragments was 5.2 (1.1 - 41.5) and 9.9 (0.1 - 94.4) months, respectively. Using the total reads threshold of 2.5%, 4 (4/36, 11.1%) samples were detected to have two IGHV productive clones. The median TTFT and overall survival (OS) time were 2.8 (0.9-72.7) and 12.8 months in patients with one mutated clone and 57.5 (32.0-120.7) and 51.8 months in those with two mutated clones, respectively. The median TTFT and OS time were 10.9 (0.3-94.4) and 6.3 (0.1 - 12.5) months in patients with one unmutated clone and 49.9 (22.2 - 211.1) and 30.0 (9.6 - 50.3) months in those with multiple unmutated clones, respectively ( P>0.05) . Conclusions:Detection of IG gene rearrangements using NGS technology not only facilitates the analysis of the IGHV mutation status, dominant clones, and prognostic value but also contributes to the exploration of IGK/IGL gene rearrangement fragments and the utilization of subclones. Further, it provides information about the poor prognosis of IGLV3 - 21 CLL. The shortened survival of the two unmutated clone groups in the IGHV unmutated group may indicate a poor prognosis.
5.Clinicopathological features and prognosis of aggressive natural killer-cell leukemia: an analysis of 27 cases
Hui WANG ; Rong WANG ; Yan WANG ; Yujie WU ; Chun QIAO ; Lei FAN
Chinese Journal of Pathology 2025;54(9):917-924
Objective:To investigate the clinicopathological features, diagnosis, and prognosis of aggressive natural killer-cell leukemia (ANKL).Methods:A retrospective analysis was conducted on 27 ANKL patients treated at the First Affiliated Hospital of Nanjing Medical University from 2014 to 2024. Their clinical data, histomorphology, and immunophenotype were reviewed. Kaplan-Meier analysis was used to evaluate the overall survival (OS), and COX regression analysis was performed to identify prognostic factors affecting OS.Results:Among the 27 patients, 18 were male and 9 were female, with a male-to-female ratio of 2∶1. The age ranged from 15-75 years, with a median age of 42.0 (28.5, 54.5) years. Fever and splenomegaly were the most common signs and symptoms. Most patients presented with pancytopenia, coagulation abnormalities, and liver dysfunction; and all patients had elevated EBV loads. Microscopically, 16 cases showed marked to hypercellular bone marrow proliferation, with predominant interstitial infiltration (15 cases, 55.6%), followed by sinusoidal infiltration (3 cases), diffuse infiltration (6 cases, 22.2%), mixed infiltration (interstitial and focal, 3 cases, 11.1%), focal infiltration (2 cases, 7.4%), and nodular infiltration (1 case, 3.7%). The proportion of tumor cells among nucleated cells ranged from 2% to 80%, with a median of 30%. The tumor cells displayed variable morphology. Hemophagocytosis was observed in 23 cases. Immunohistochemistry revealed that all cases expressed CD56, with mostly expressing cytotoxic molecules (granzyme B, TIA-1). The Ki-67 proliferative index ranged from 50% to 90%. CD56-EBER dual staining showed that NK cells were the primary targets of the virus. Reticulin staining showed increased fibrosis. By flow cytometry, all cases were positive for CD2 but negative for surface CD3 (sCD3), CD4, CD5 and CD57. Among them, 21 cases (95.5%) exhibited a typical phenotype of strong CD56 expression (CD56str+) with CD16 negativity (CD16-), while only one case (4.5%) showed CD16 positivity (CD16+) with dim CD56 expression (CD56dim). In killer-cell immunoglobulin-like receptor (KIR) analysis, 6 out of 17 patients (6/17) demonstrated monoclonal expression, including CD158a (4/6), CD158i (1/6), and CD158e (1/6); the remaining 11 cases (11/17) showed complete absence of KIR expression. All tested cases (17/17) were negative for T-cell receptor (TCR) protein expression. Follow-up period was from 257 days, 1 patient was lost to follow-up, and the remaining 26 patients died. Kaplan-Meier analysis revealed that OS was significantly longer in patients who received chemotherapy compared to those who did not ( P<0.05). Univariate Cox proportional hazards model analysis indicated that age, bone marrow proliferation, proportion of tumor cells among nucleated cells, absolute neutrophil count, platelet count, and triglycerides and bilirubin levels significantly affected OS ( P<0.05). Multivariate COX regression analysis identified triglycerides and bilirubin levels as independent prognostic factors for OS. Conclusion:Aggressive natural killer-cell leukemia is a rare lymphoid malignancy with very poor prognosis. Tumor cells exhibit significant morphological variation, and bone marrow infiltration patterns are diverse. Accurate recognition, early diagnosis, and timely chemotherapy are critical to improving the prognosis of patients with ANKL.
6.Efficacy and long-term follow-up report of FCR regimen in the first-line treatment of chronic lymphocytic leukemia/small lymphocytic lymphoma
Xiao LU ; Yi XIA ; Yi MIAO ; Tonglu QIU ; Luomengjia DAI ; Ziyuan ZHOU ; Hui JIN ; Hairong QIU ; Chun QIAO ; Yujie WU ; Lei FAN ; Wei XU ; Jianyong LI ; Huayuan ZHU
Chinese Journal of Hematology 2025;46(11):1032-1037
Objective:To evaluate the efficacy and long-term outcomes of fludarabine, cyclophosphamide, and rituximab (FCR) in treatment-na?ve patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) .Methods:Clinical data from 68 CLL/SLL patients treated with FCR at Jiangsu Province Hospital (August 2008–May 2021) were retrospectively analyzed to assess efficacy, safety, and survival outcomes.Results:Among 68 patients [46 males, 22 females; median age 55 (47, 60) years], 13.1% (8/61) had a complex karyotype, 32.3% (20/62) had immunoglobulin heavy variable region mutated (IGHV-M) type, 6.6% (4/61) had del (17p), and 14.8% (8/54) had del (11q). Patients received a median of 6 (4, 6) FCR cycles. The overall response rate was 88.2% (60/68), including 47.0% (32/68) complete remissions. Over a median follow-up of 82 (59, 98) months, 66.2% (45/68) experienced disease progression. Median progression-free survival was 56 (21, 123) months, while median overall survival was not reached. The 5- and 10-year PFS rates were 42.6% (95% CI: 31.9–56.8% ) and 28.7% (95% CI: 19.0–43.4% ), respectively. Poor PFS was associated with del (17p) ( HR=5.04, 95% CI: 1.72–14.74, P=0.003), del (11q) ( HR=5.27, 95% CI: 2.11–13.15, P<0.001), IGHV unmutated (IGHV-UM) ( HR=4.11, 95% CI: 1.72–9.79, P=0.001), complex karyotype (CK) ( HR=3.53, 95% CI: 1.58–7.85, P=0.002), β 2-microglobulin >3.5 mg/L ( HR=2.87, 95% CI: 1.37–6.01, P=0.005). In multivariate analysis, IGHV-UM remained an independent predictor of PFS ( HR=8.63, 95% CI: 1.09–68.40, P=0.042). Sixteen patients with IGHV-M and lacking del (17p) or CK had a median PFS of 123 (58,123) months and a 5-year PFS rate of 70.7% (95% CI: 49.7–99.1% ), reaching a plateau after 5 years with no recurrences by 10 years. Common grade 3–4 adverse events included hematologic toxicity (44.1%, 30/68), infection (36.7%, 25/68), and liver dysfunction (4.4%, 3/68). Among 25 patients receiving single-agent BTK inhibitors after FCR progression, median follow-up was 45 (26, 64) months; 36% (9/25) experienced disease progression, with a median PFS time of 55 (27, 55) months. Conclusion:First-line FCR provides durable long-term benefits for patients with IGHV-M CLL without del (17p) or CK.
7.Association study of FADS2 gene rs174575 and rs2845574 single nucleotide polymorphisms with blood pressure and lipid levels in pregnant women
Yuwen GUO ; Huai BAI ; Linbo GUAN ; Xinghui LIU ; Ping FAN ; Yujie WU ; Suiyan LI
Chinese Journal of Medical Genetics 2025;42(6):675-683
Objective:To investigate the relationship between the single nucleotide polymorphisms (SNP) rs174575 and rs2845574 in the fatty acid desaturase 2 ( FADS2) gene and gestational diabetes mellitus (GDM). Methods:A total of 1 514 pregnant women who visited West China Second University Hospital, Sichuan University, between January 1, 2013, and December 31, 2021, were enrolled in this study. Among them, 583 were diagnosed with gestational diabetes mellitus (GDM group), and 931 had normal pregnancies (control group). The SNPs rs174575 and rs2845574 in the FADS2 gene were analyzed using Sanger DNA sequencing. Plasma levels, insulin (INS), apolipoprotein A1 (apoA1) and apolipoprotein B (apoB) levels were measured using enzymatic methods, chemiluminescence and immunoturbidimetry. This study was approved by Medical Ethics Committee of the West China Second University Hospital, Sichuan University (Ethics No. 2020-036). Results:① The main type of genotype at the rs174575 C/G and rs2845574 C/T polymorphic sites were CC in both GDM and control groups. No statistically significant differences were observed between the GDM and control groups regarding the genotype frequencies or allele frequencies of rs174575 and rs2845574 sites ( P>0.05). ② Among the GDM group, individuals with the GG genotype at the rs174575 site had lower plasma HDL-C levels compared to those with the CC genotype ( P<0.05), and had higher atherogenic indices (AI) than CC and CG genotype ( P<0.05; P<0.05). Individuals with the TT genotype at the rs2845574 site had higher AI than CT genotype ( P<0.05). Among the control group, individuals with the GG genotype had lower diastolic blood pressure (DBP) compared to those with the CC genotype ( P<0.05). ③ Additional subgroup analysis demonstrated that the rs174575 polymorphism was associated with AI levels in obesity subgroup of GDM, TG levels in non-obese subgroup of control and DBP levels in obese subgroup of control ( P<0.05; P<0.05; P<0.05). Conclusion:The FADS2 rs174575 and rs2845574 polymorphisms in GDM patients were associated wit HDL-C and AI levels, and the FADS2 rs174575 polymorphisms was also associated with DBP levels in normal pregnant women. The AI and DBP levels have BMI-dependent effect.
8.Emodin Inhibits Expressions of RhoA and ROCK to Attenuate Lipopolysaccharide-Induced Podocyte Injury
Yuan GAN ; Xiaoguang FAN ; Lijiao WANG ; Guofeng LI ; Yujie ZHOU
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(4):962-968
Objective To observe the improvement effect and mechanism of emodin on lipopolysaccharide(LPS)-induced podocyte injury.Methods Human glomerular podocytes were used as the study object,and they were randomly divided into the blank control group,the LPS group,the emodin low-,medium-,and high-dose groups,and the emodin+lysophosphatidic acid[LP A,RhoA/RhoRho-associatedcoiled-coil kinase(ROCK)activator]group.Cell counting kit 8(CCK8)and 5-ethynyl-2'-deoxyuridine(EdU)staining were applied to detect the proliferation of glomerular podocytes,Transwell assay was used to test the migration of glomerular podocytes,flow cytometry was used to detect apoptosis of glomerular podocytes,and enzyme-linked immunosorbent assay(ELISA)was used to detect the levels of inflammatory factors tumor necrosis factor α(TNF-α),interleukin(IL)-1β,and IL-18 in the supernatant of glomerular podocytes,and the protein expression levels of RhoA and ROCK in glomerular podocytes were determined by Western Blot.Results The optical density(OD)450nm,EdU positive cell rate and migration number of glomerular podocytes in the LPS group were lower than those in the blank control group,and the apoptosis rate,the levels of TNF-α,IL-1β and IL-18 in the supernatant,as well as the protein expression levels of RhoA and ROCK in the cells were higher than those in the blank control group,the differences being statistically significant(P<0.05);the OD450nm,EdU positive cell rate and migration number of glomerular podocytes in the emodin low-,medium-,and high-dose groups were higher than those in the LPS group,while the apoptosis rate,levels of TNF-α,IL-1 β and IL-18 in supernatant,as well as RhoA and ROCK protein expression levels in cells were reduced compared with those in the LPS group,the differences being statistically significant(P<0.05);the OD450nm and EdU positive cell rate and migration number of glomerular podocytes in LPA group were lower than those of emodin high-dose group,while the apoptosis rate,levels of TNF-α,IL-1 βand IL-18 in supernatant,as well as RhoA and ROCK protein expression levels in cells were higher than those of emodin high-dose group,the differences being all statistically significant(P<0.05).Conclusion Emodin can improve LPS-induced podocyte injury,and its mechanism of action may be related to the inhibition of RhoA/ROCK signaling pathway.
9.Effects of Duzhi Pills Combined with MOTOmed Training on Limb Function and Activities of Daily Living in Patients with Cerebral Infarction
Shan WANG ; Yinping WANG ; Xiangchen WEI ; Wenjing LI ; Yujie JI ; Peng FAN
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(11):2644-2650
Objective To investigate the effects of Duzhi Pills combined with MOTOmed training on limb function and activities of daily living in patients with cerebral infarction of qi deficiency and blood stasis type.Methods A prospective randomized controlled trial enrolled 98 cerebral infarction patients with qi deficiency and blood stasis treated at Qinhuangdao Hospital,Oriental Hospital of Beijing University of Chinese Medicine(Qinhuangdao Hospital of Traditional Chinese Medicine)from June 2022 to December 2024.Participants were randomized into control group(n=49,receiving conventional rehabilitation)and observation group(n=49,receiving additional Duzhi Pills+MOTOmed training)for 8 weeks.All patients received standard medication.Limb motor function and activities of daily living,and quality of life were assessed before and after treatment.Results(1)After treatment,both groups showed significant increases in Carroll Hand Function Test for Upper Extremity(CHFT-UE)scores,Fugl-Meyer Assessment Scale for Upper Extremity(FMA-UE)scores,and Simple Test for Evaluating Hand Function(STEF)scores compared to baseline(P<0.05),with significantly greater improvements observed in the observation group(P<0.01).(2)After treatment,both groups exhibited significant increases in Barthel Index scores for daily activity(P<0.05),with the observation group demonstrating significantly greater improvement(P<0.01).(3)After treatment,all subscale scores of the 36-Item Short-Form Health Survey(SF-36),including physical function,bodily pain,mental health,vitality,social functioning,emotional role,and general health,were significantly increased in both groups(P<0.05),with significantly greater improvements in the observation group,the difference being statistically significant(P<0.01).Conclusion The combined regimen of Duzhi Pills and MOTOmed training significantly enhances limb function,daily activity,and quality of life in cerebral infarction patients with qi deficiency and blood stasis syndrome,demonstrating clinical value for rehabilitation.
10.Association study of FADS2 gene rs174575 and rs2845574 single nucleotide polymorphisms with blood pressure and lipid levels in pregnant women.
Yuwen GUO ; Huai BAI ; Linbo GUAN ; Xinghui LIU ; Ping FAN ; Yujie WU ; Suiyan LI
Chinese Journal of Medical Genetics 2025;42(6):675-683
OBJECTIVE:
To assess the association between the single nucleotide polymorphisms (SNP) rs174575 and rs2845574 of the fatty acid desaturase 2 (FADS2) gene and gestational diabetes mellitus (GDM).
METHODS:
A total of 1 514 pregnant women who visited West China Second University Hospital of Sichuan University between January 1, 2013 and December 31, 2021 were enrolled in this study. Among them, 583 were diagnosed with gestational diabetes mellitus (GDM group), and 931 had normal pregnancies (control group). The SNPs rs174575 and rs2845574 of the FADS2 gene were analyzed using Sanger DNA sequencing. Plasma levels of insulin (INS), apolipoprotein A1 (apoA1) and apolipoprotein B (apoB) were measured using enzymatic methods, chemiluminescence and immunoturbidimetry. This study was approved by the Medical Ethics Committee of the West China Second University Hospital of Sichuan University (Ethics No.: 2020-036).
RESULTS:
The main genotype at the rs174575 C/G and rs2845574 C/T loci were CC in both GDM and control groups. No significant difference was found between the GDM and control groups regarding the genotypic or allelic frequencies of rs174575 and rs2845574 sites (P > 0.05). Among the GDM group, individuals with the GG genotype at the rs174575 site had lower plasma HDL-C levels compared to those with the CC genotype (P < 0.05), and had higher atherogenic indices (AI) compared with the CC and CG genotype (P < 0.05; P < 0.05). Individuals with the TT genotype at the rs2845574 site had higher AI compared with the CT genotype (P < 0.05). Among the control group, individuals with the GG genotype had lower diastolic blood pressure (DBP) compared to those with the CC genotype (P < 0.05). Additional subgroup analysis demonstrated that the rs174575 polymorphism was associated with AI levels in obesity subgroup of GDM, TG levels in non-obese subgroup of control and DBP levels in the obese subgroup of control (P < 0.05; P < 0.05; P < 0.05).
CONCLUSION
The FADS2 rs174575 and rs2845574 polymorphisms in GDM patients are associated wit HDL-C and AI levels, and the FADS2 rs174575 polymorphisms was also associated with DBP levels in normal pregnant women. The AI and DBP levels have a BMI-dependent effect.
Humans
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Female
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Pregnancy
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Fatty Acid Desaturases/genetics*
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Polymorphism, Single Nucleotide
;
Adult
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Diabetes, Gestational/blood*
;
Blood Pressure/genetics*
;
Lipids/blood*
;
Genotype
;
Genetic Predisposition to Disease

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