1.Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus.
Jianyu REN ; Xiaojiao GUAN ; Shuang LIU ; Yousheng YAN ; Shufa YANG
Chinese Journal of Medical Genetics 2026;43(4):288-294
OBJECTIVE:
To investigate the genetic etiology of a fetus diagnosed with Mandibulofacial dysostosis with microcephaly (MFDM).
METHODS:
A fetus that underwent prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, on May 19, 2025 was selected for analysis. Results of fetal ultrasound findings, chromosomal karyotyping, copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) were collected. Sanger sequencing was performed for familial validation of the pathogenic variant. The Human Protein Atlas (HPA), STRING, and Simple ClinVar databases were queried to characterize the biological features of the candidate gene. Three-dimensional structures of the wild-type and variant proteins were modeled and analyzed, and the evolutionary conservation of the affected amino acid was assessed using UGENE. Prenatal phenotypes associated with EFTUD2 variants were summarized through a review of the literature. This study was approved by the Ethics Committee of Beijing Obstetrics and Gynecology Hospital, Capital Medical University (Ethics No.: 2025-KY-029-01).
RESULTS:
At 23+2 weeks of gestation, ultrasound examination revealed bilateral microtia with low-set ears, mild micrognathia with a reduced mandibular-facial angle, a single umbilical artery, a slightly narrow aortic diameter, and trivial mitral regurgitation. Amniotic fluid karyotyping and CNV-seq showed no abnormalities. WES identified a de novo, previously unreported EFTUD2 variant, c.698dupA (p.V235Gfs*27), in the fetus. This frameshift variant is predicted to alter the structural integrity of the EFTUD2 protein. Literature review indicated that micrognathia and microtia or low-set ears are the most common sonographic features in fetuses with EFTUD2 variants, while secondary findings may include abnormal stomach bubble, cleft palate, single umbilical artery, gastrointestinal atresia, polyhydramnios, and reduced aortic diameter.
CONCLUSION
The EFTUD2: c.698dupA (p.V235Gfs*27) variant is likely the genetic cause underlying MFDM in this fetus.
Humans
;
Mandibulofacial Dysostosis/diagnostic imaging*
;
Microcephaly/diagnostic imaging*
;
Female
;
Pregnancy
;
Ribonucleoprotein, U5 Small Nuclear/chemistry*
;
Peptide Elongation Factors/chemistry*
;
Fetus
;
DNA Copy Number Variations/genetics*
;
Adult
;
Ultrasonography, Prenatal
2.Impact of hepatic steatosis on viral load and hepatic fibrosis progression in chronic hepatitis B
Shi YIN ; Lianxin ZHU ; Guanghui REN ; Guiqun HUANG ; Yunpeng GUAN ; Ying ZHU
Journal of Clinical Hepatology 2026;42(6):1279-1286
ObjectiveTo investigate the association of hepatic steatosis with the level of viral replication and the progression of hepatic fibrosis in patients with chronic hepatitis B (CHB) through a real-world study, and to determine the independent influencing factors for hepatic fibrosis. MethodsA total of 887 CHB patients who attended the outpatient service and inpatient ward of Hepatology in The First Affiliated Hospital of Dalian Medical University from July 2021 to March 2025 were enrolled as subjects, and according to the presence or absence of metabolic dysfunction-associated steatotic liver disease (MASLD), they were divided into CHB group with 560 patients and CHB+MASLD group with 327 patients. The association between hepatic steatosis and HBV load in CHB patients was analyzed, as well as the impact of varying degrees of hepatic steatosis on hepatic fibrosis. The t-test or the Mann-Whitney U test was used for comparison of continuous data between groups; the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups; a Spearman correlation analysis was performed; a Logistic regression analysis was used to investigate influencing factors. ResultsThe patients enrolled received antiviral therapy according to viral load; of all patients, 275 (31%) received nucleos(t)ide analogue combined with pegylated interferon-α, 532 (60%) received nucleos(t)ide analogue monotherapy, and 80 (9%) did not receive antiviral therapy. A total of 44 patients (5.0%) who were receiving PEG-IFN-α therapy and had marked thrombocytopenia were excluded, and finally 843 patients were included for comparison of aspartate aminotransferase-to-platelet ratio index (APRI) and fibrosis-4 index (FIB-4). Compared with the CHB group, the CHB+MASLD group had a significantly higher proportion of male patients (χ2=5.917, P<0.05) and a significant increase in CAP value (t=21.646, P<0.05). The median values of liver function parameters for the population enrolled were within the normal range, and no significant inflammatory activity was observed. The virological analysis showed that compared with the CHB group, the CHB+MASLD group had significantly lower serum level of pregenomic RNA (Z=-2.894, P<0.05) and HBeAg positivity rate (χ2=8.725, P<0.05), and CAP was significantly negatively correlated with pgRNA (r=-0.117, P<0.05). In the HBeAg-negative subgroup, compared with the CHB group, the CHB+MASLD group had a significantly lower level of hepatitis B surface antigen (Z=-0.765, P<0.05); in the HBeAg-positive subgroup, the CHB+MASLD group had a significantly higher level of HBV DNA than the CHB group (Z=-2.509, P<0.05). The analysis of hepatic fibrosis showed that the CHB+MASLD group had significantly lower values of APRI (Z=-3.418, P<0.05) and FIB-4 (Z=-6.237, P<0.05). Compared with the CHB group, the CHB+MASLD S1 group had a significantly higher proportion of patients without fibrosis and a significantly lower proportion patients with liver cirrhosis (χ2=7.935, P<0.05); in the CHB+MASLD S2 group, there was no significant difference in the proportion of patients with different fibrosis stages; the CHB+MASLD S3 group had a significantly lower proportion of patients without fibrosis and a significantly higher proportion of patients with early-stage fibrosis (χ2=9.101, P<0.05). The Logistic regression analysis showed that an increase in CAP (odds ratio [OR]=1.08, 95% confidence interval [CI]: 1.03 — 1.13, P<0.05), an increase in age (OR=1.02, 95%CI: 1.01 — 1.04, P<0.05), male sex (OR=1.77, 95%CI: 1.19 — 2.64, P<0.05), an increase in HBV DNA (OR=1.35, 95%CI: 1.15 — 1.57, P<0.001), an increase in aspartate aminotransferase (OR=1.02, 95%CI: 1.01 — 1.03, P<0.001), and an increase in gamma-glutamyl transpeptidase (OR=1.00, 95%CI: 1.00 — 1.01, P=0.028) were independent influencing factors for hepatic fibrosis. The risk of hepatic fibrosis in S3 patients was higher than that in patients without steatosis (OR=5.05, 95%CI: 2.48 — 10.29, P<0.001). ConclusionThere is a lower level of HBV replication in CHB patients comorbid with MASLD. Hepatic steatosis is associated with HBV-related virological markers and the progression of hepatic fibrosis, and severe fatty liver disease may promote the progression of hepatic fibrosis in CHB patients.
3.Postoperative lower limb ischemic necrosis following xenogeneic heart transplantation from gene-edited pigs to rhesus macaques
Xianzhi WANG ; Zhipeng REN ; Ziqiang DAI ; Rong ZHOU ; Gen ZHANG ; Jie YAN ; Yulong GUAN ; Guangyu PAN ; Xingzhuang HE ; Tingting LIU ; Shangxuan LI ; Guanzheng CUI ; Chenghong LAI ; Dengke PAN ; Dianyuan LI
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(09):1474-1481
Objective To investigate the causes and management strategies for lower limb ischemic necrosis following xenogeneic heterotopic heart transplantation from a multigene-edited pig to a rhesus monkey. Methods A xenogeneic heterotopic heart transplantation was performed on December 16, 2023, at the Institute of Experimental Animals of Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, using a quintuple-gene-edited pig as the donor and a rhesus monkey as the recipient. On postoperative day (POD) 9, the recipient monkey underwent left lower limb amputation due to ischemic necrosis. Blood samples were collected at various time points after transplantation for analysis of hematologic parameters, liver and renal function, myocardial enzymes, and coagulation profiles. Ultrasound and computed tomography (CT) were used to evaluate anastomotic patency and cardiac structure. Immunological assays, including complement-dependent cytotoxicity (CDC) and IgG/IgM antibody detection, combined with clinical observations, were employed to assess rejection type and therapeutic response. Results The recipient monkey survived for 46 days after transplantation. Echocardiography demonstrated preserved biventricular systolic function in the recipient’s native heart, with left ventricular ejection fraction (LVEF) consistently exceeding 50%. In the donor pig heart, left ventricular endocardial thickening was noted on POD 9, followed by right ventricular endocardial thickening on POD 24, while LVEF remained around 35%. No hyperacute or acute rejection was detected immunologically. CDC positivity ranged between 3.4% and 5.1%, with IgG/IgM antibody binding trends consistent with CDC results. Following amputation, the recipient exhibited elevated inflammatory markers, coagulopathy, and reactive thrombocytosis, which later normalized. Immunohistochemical staining of the necrotic limb revealed arterial and venous thrombosis; however, no T-cell or B-cell infiltration was observed in vascular structures, thrombi, nerves, muscles, fascia, or skin tissues, with CD3 and CD20 staining both negative. Conclusion Limb ischemia after xenogeneic heart transplantation may be associated with lower extremity vascular thrombosis triggered by local trauma in the context of transplantation-induced inflammatory activation and coagulation dysfunction. While no clear lymphocyte-mediated rejection was observed, further studies are needed to explore the potential role of non-lymphocyte-mediated immune mechanisms.
4.Study on the relationship between serum GLP-1,MCP-1,IGFBP-3 and glycolipid metabolism,bone metabolism and microvascular complications in children with T1DM
Xiaoning GUAN ; Lihua WANG ; Limin HU ; Jinfeng REN ; Wangye LI ; Jing WU ; Xiangfen YANG
International Journal of Laboratory Medicine 2025;46(14):1702-1708
Objective To investigate the relationship between serum glucagon-like peptide-1(GLP-1),monocyte chemoattractant protein-1(MCP-1),insulin-like growth factor binding protein-3(IGFBP-3)and glycolipid metabolism,bone metabolism and microvascular complications(MC)in children with type 1 diabe-tes mellitus(T1DM).Methods A total of 211 children with T1DM(T1DM group)admitted to Handan Cen-tral Hospital,Xingtai Traditional Chinese Medicine Hospital,Baoding First Central Hospital and Handan Ma-ternal and Child Health Hospital from January 2021 to February 2023 were selected,patients were divided into MC group(63 cases)and non-MC group(148 cases)according to whether MC was complicated within 1 year,and 108 healthy children who underwent physical examination during the same period were selected as control group.The levels of serum GLP-1,MCP-1,IGFBP-3 and glucose and lipid metabolism indexes[fasting plasma glucose(FPG),fasting insulin(FINS),glycosylated hemoglobin(HbA1c),homeostasis model assessment of insulin resistance(HOMA-IR),total cholesterol(TC),triglyceride(TG),high density lipoprotein cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C)]and bone metabolism indexes[bone specific alkaline phosphatase(BALP),osteocalcin(OST),type I collagen cross-linked C-terminal peptide(CTX)]were detec-ted.The correlation between serum GLP-1,MCP-1,IGFBP-3 and glucose and lipid metabolism,bone metabo-lism in children with T1DM were analyzed by Pearson and Spearman correlation coefficient.Taking MC in children with T1DM as the dependent variable,the influencing factors were determined by multivariate uncon-ditional Logistic regression model,and the predictive value of serum GLP-1,MCP-1 and IGFBP-3 for MC were analyzed by receiver operating characteristic curve.Results The levels of serum GLP-1,FINS,HDL-C,BALP,OST and CTX in the T1DM group were lower than those in the control group,while the levels of MCP-1,IGFBP-3,FPG,HbA1c,HOMA-IR,TG and LDL-C in the T1DM group were higher than those in the control group,the differences were statistically significant(P<0.05).Serum GLP-1 in children with T1DM was negatively correlated with FPG,HbA1c,HOMA-IR,TG and LDL-C,and positively correlated with FINS,HDL-C,BALP,OST and CTX(P<0.05).MCP-1 and IGFBP-3 were positively correlated with FPG,HbA1c,HOMA-IR,TG and LDL-C,and negatively correlated with FINS,HDL-C,BALP,OST and CTX(P<0.05).Follow-up for 1 year,the incidence of MC in 211 children with T1DM was 29.86%(63/211).Elevated HbA1c,HOMA-IR,LDL-C,MCP-1 and IGFBP-3 were independent risk factors for MC in children with T1DM,and elevated GLP-1 was an independent protective factor(P<0.05).The area under the curve of ser-um GLP-1,MCP-1 and IGFBP-3 combined to predict MC in children with T1DM was 0.919,which was grea-ter than 0.781,0.788 and 0.794 predicted by serum GLP-1,MCP-1 and IGFBP-3 alone(P<0.05).Conclu-sion The decrease of serum GLP-1 level and the increase of MCP-1 and IGFBP-3 levels are related to glyco-lipid metabolism,bone metabolism disorder and MC in children with T1DM,the combined application of ser-um GLP-1,MCP-1 and IGFBP-3 has a good predictive value for MC in children with T1DM.
5.Risk factor analysis of monozygotic twin pregnancy in IVF/ICSI and its impact on perinatal outcomes
Mingmei ZHANG ; Jianrui ZHANG ; Aihua GENG ; Zhuolin YAO ; Shanshan WU ; Bingnan REN ; Yuan CAO ; Yiping WANG ; Xin WANG ; Yichun GUAN ; Zhen LI
Chinese Journal of Reproduction and Contraception 2025;45(3):234-239
Objective:To investigate the influencing factors and perinatal outcomes associated with monozygotic twins (MZT) following elective single embryo transfer (eSET) via in vitro fertilization or intracytoplasmic sperm injection and embryo transfer (IVF/ICSI-ET). Methods:A retrospective cohort study was conducted on 12 079 patients who achieved pregnancy after undergoing IVF/ICSI-eSET at Reproductive Health Hospital of the Third Affiliated Hospital of Zhengzhou University between January 2015 and September 2023. Patients were stratified into two groups based on ultrasound findings 30 d post-transfer: singleton pregnancy group and MZT pregnancy group. Finally, 300 MZT and 1 500 single pregnancies, which were randomly matched according to 1∶5 were included by study period. General patients' characteristics, embryo-related factors, and perinatal outcomes were compared between the two groups. A multivariate logistic regression model was employed to identify risk factors for MZT after single embryo transfer, adjusting for potential confounding variables.Results:The incidence of twin pregnancy following single embryo transfer was 2.48% (300/12 079), which was higher than that of naturally conceived monozygotic twin pregnancy. No significant difference was found in baseline characteristics between the two groups (all P>0.05). The blastocyst transfer rate was higher in the MZT pregnancy group [93.3% (280/300)] than in the singleton pregnancy group [88.8% (1 332/1 500), P=0.022]. Multivariate logistic regression analysis also showed that blastocyst transfer was associated with an increased risk of MZT ( OR=0.552, P=0.016, 95% CI: 0.341-0.894). Analysis of blastocyst cycles showed that the risk of MZT was higher when transferring high-quality blastocysts [79.6% (223/280) vs. 67.8% (903/1 332), P<0.001], where as a trophectoderm (TE) grading of C [20.4% (57/280) vs. 32.2% (429/1 332), P<0.001] had a lower risk of MZT. After adjusting for confounding factors, the risk of MZT was found to increase with the transfer of blastocysts with a B-grade inner cell mass (ICM) ( OR=0.601, P=0.001, 95% CI: 0.442-0.819) and A/B grade TE (grade A: OR=2.951, P<0.001, 95% CI: 1.980-4.399; grade B: OR=1.840, P<0.001, 95% CI: 1.315-2.576). The risk of complications during pregnancy [47.7% (143/300) vs. 19.3% (289/1 500), P<0.001], preterm labor [55.1% (140/254) vs. 7.4% (101/1 368), P<0.001], and the risk of stillbirth [3.7% (11/300) vs. 1.5% (22/1 500), P=0.016] were significantly higher in the MZT pregnancy group than in the singleton pregnancy group. Conclusion:Assisted reproductive technology may contribute to the risk of MZT. Transfer of blastocysts, particularly those with loose ICM arrangement and dense TE arrangement, appears to increase the risk of MZT in patients undergoing eSET.
6.Comparison of the efficacy, safety, and cost-effectiveness of u-FSH, r-FSH alpha and beta in the long protocol of early follicular phase
Lanlan LIU ; Junwei ZHANG ; Bingnan REN ; Hua GUO ; Chunzhi HUANG ; Nan SUN ; Yanli REN ; Yichun GUAN
Chinese Journal of Reproduction and Contraception 2025;45(2):154-161
Objective:To explore the effectiveness, safety, and cost among urinary follicle-stimulating hormone (u-FSH), recombinant FSH (r-FSH)α, and r-FSHβ in the early follicular phase prolonged protocol for patients under 35 years old with normal ovarian function.Methods:It was a retrospective cohort study. Patients under 35 years old with normal ovarian function who underwent early follicular phase prolonged protocol for ovulation stimulation and using in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) for fertilization in Reproductive Health Hospital of the Third Affiliated Hospital of Zhengzhou University from January 2018 to December 2023 were recruited, including the fresh and frozen-thawed embryo transfer (FET) cycles. Patients were divided into u-FSH group, r-FSHα group, and r-FSHβ group. A total of 1 048 ovarian stimulation cycles were included, with 150 cycles, 490 cycles and 408 cycles in the three groups respectively. A total of 710 FET cycles with fresh cycle cancellation were included, with 95 cycles, 320 cycles and 295 cycles in the three groups respectively. The baseline data, pregnancy outcomes, safety, and cost were compared among the three groups. The main observation indicators were cumulative pregnancy rate and cumulative live birth rate (CLBR). A binary logistic regression model was used to control confounding factors, and to analyze the relationship between three ovulation inducing medicine and CLBR. Results:The difference in the number of oocytes retrieved among the u-FSH group, r-FSHα group, and r-FSHβ group was statistically significant [13.0 (10.0, 16.0), 14.0 (11.0, 18.0), 15.0 (11.0, 19.0), respectively, P=0.012], and the difference in the number of 2PN embryos was statistically significant [9.0 (6.0, 12.0), 10.0 (7.0, 13.0), 10.0 (7.0, 13.0), respectively, P=0.046]. There were no statistically significant differences in the number of available embryos, available embryo rate, the number of high-quality embryos, high-quality embryo rate, available blastocyst formation rate, fresh cycle clinical pregnancy rate, live birth rate in fresh cycle, cumulative pregnancy rate of frozen embryos with fresh cycle cancellation, CLBR of frozen embryos with fresh cycle cancellation, cumulative clinical pregnancy rate, CLBR, moderate to severe ovarian hyperstimulation syndrome incidence, ectopic pregnancy rate, multiple pregnancy rate and neonatal malformation rate among the three groups (all P>0.05). In terms of economy, the u-FSH group had the lowest total gonadotropin cost for each patient, while the r-FSHα group had the highest. The differences among the three groups were statistically significant [u-FSH group 4 429.08 (3 198.78, 5 044.23) yuan, r-FSHα group 6 023.72 (5 433.75, 7 529.65) yuan, r-FSHβ group 5 480.00 (4 550.90, 6 437.86) yuan, P<0.001]. Binary logistic regression analysis was conducted, using u-FSH as a control. The CLBR of the r-FSHα group and r-FSHβ group showed no statistically significant difference compared with the u-FSH group (a OR=0.95, 95% CI: 0.57-1.58, P=0.838; a OR=0.89, 95% CI: 0.54-1.48, P=0.654). Conclusion:For patients under 35 years old with normal ovarian function undergoing long protocol ovarian stimulation, the effectiveness and safety of the three ovarian-stimulating medicine are similar, but u-FSH has economic advantages.
7.Analysis of laboratory outcomes in assisted reproductive technology for malignant tumor patients
Ran SHEN ; Wei ZHENG ; Ruowen ZU ; Chen YANG ; Bingnan REN ; Jiaheng LI ; Yanli LIU ; Jing LI ; Peixin LI ; Jingyi HAN ; Yichun GUAN
Chinese Journal of Reproduction and Contraception 2025;45(4):365-371
Objective:To investigate whether malignant tumors affect the laboratory outcomes of patients in their first controlled ovarian hyperstimulation (COH) cycle.Methods:This study was a retrospective case-control study that analyzed the clinical and laboratory data of patients who underwent fertility preservation before chemotherapy and radiotherapy due to malignant tumors, as well as patients with infertility caused by tubal factors who first underwent in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) at the Reproductive Health Hospital of the Third Affiliated Hospital of Zhengzhou University from January 2020 to May 2024. Patients who underwent fertility preservation were designated as the research group, while patients who underwent assisted reproduction due to tubal factors during the same period were designated as control group. After 1∶3 propensity score matching (PSM), 40 patients were included in the research group and 118 patients were included in control group. The ovarian response, oocyte retrieval outcomes, and embryonic development after fertilization in the first COH cycle were compared between the two groups. Results:After PSM, the research group and control group showed statistically significant differences in the gonadotropin (Gn) starting dosage [225.00 (162.50, 300.00) U vs. 193.75 (150.00, 225.00) U, P=0.002], duration of Gn used [10.00 (8.00, 11.00) d vs. 12.00 (10.00, 13.00) d, P<0.001], and average estradiol levels on human chorionic gonadotropin trigger day [2 487.00 (1 461.25, 4 090.25) pmol/L vs. 10 738.50 (8 400.00, 16 507.25) pmol/L, P<0.001]. However, no statistically significant difference was found in the total dosages of Gn used between the two groups ( P>0.05). There were no significant differences between the groups in terms of the number of oocytes retrieved, the number of metaphase Ⅱ oocytes, two pronuclei (2PN) rate, 2PN cleavage rate, available embryo rate, high-quality embryo rate, blastocyst formation rate, and available blastocyst formation rate (all P>0.05). Conclusion:Compared with infertility patients with tubal factors, there is no significant difference in the laboratory outcomes of malignant tumor patients undergoing COH for fertility preservation prior to chemotherapy and radiation.
8.Impact of different luteal phase support protocols on pregnancy outcomes in patients aged ≤35 years undergoing modified natural cycle frozen-thawed embryo transfer
Wen ZHANG ; Sheling WU ; Bingnan REN ; Ruolin JIA ; Wenjuan ZHANG ; Bijun WANG ; Xiaofang DU ; Yichun GUAN
Chinese Journal of Reproduction and Contraception 2025;45(3):217-225
Objective:To investigate the impact of different luteal phase support protocols on pregnancy outcomes in patients aged ≤35 years undergoing modified natural cycle frozen-thawed embryo transfer (mNC-FET).Methods:A retrospective cohort study was conducted to analyze 2 086 cycles of patients aged ≤35 years who received mNC-FET cycles in Reproductive Health Hospital of the Third Affiliated Hospital of Zhengzhou University from January 2018 to December 2020. The cycles were divided into three groups based on luteal phase support protocols used. The patients received a combination of progesterone soft capsule and dydrogesterone in the group A (446 cycles), the patients received dydrogesterone in the group B (439 cycles), and the patients received a combination of progesterone vaginal sustained-release gel and dydrogesterone in the group C (1 201 cycles). The pregnancy and perinatal outcomes were compared between groups A and B, groups C and B after matching the baseline data in a ratio of 1∶1 using the propensity score matching (PSM). The effect of different luteal phase support on live birth rate was analyzed after adjusting for confounding factors affected by univariate and multivariate generalized estimating equation (GEE).Results:After PSM, there were no significant differences between groups A and B, groups C and B in human chorionic gonadotropin positive rate, clinical pregnancy rate, ectopic pregnancy rate, live birth rate in transplant cycle, incidence of low weight, macrosomia, premature delivery rate, pregnancy complication rate and incidence of birth defects (all P>0.05). GEE analysis showed that three different luteal phase support regimens were not associated with live birth rate. Conclusion:In the mNC-FET cycle, patients aged ≤35 years who chose dydrogesterone alone as luteal phase support drug, had no difference in live birth rate and perinatal outcome between progesterone soft capsules or progesterone vaginal sustained-release gel combined with dydrogesterone, but the outcome still needs to be confirmed by large sample prospective studies.
9.Impact of male body mass index on semen parameters and outcomes of artificial insemination by husband: a single-center retrospective cohort study
Jingyi HAN ; Chen YANG ; Ruowen ZU ; Peixin LI ; Ran SHEN ; Wei ZHENG ; Rusheng LIU ; Bingnan REN ; Yichun GUAN
Chinese Journal of Reproduction and Contraception 2025;45(6):600-606
Objective:To investigate the effects of male body mass index (BMI) on semen parameters and perinatal outcomes following artificial insemination by husband (AIH) treatment.Methods:A retrospective cohort study was conducted to analyze the clinical data of 5 053 patients underwent AIH treatment at the Reproductive Health Hospital of the Third Affiliated Hospital of Zhengzhou University, from January 2017 to February 2024. The study focused on factors such as male semen parameter abnormalities, male sexual dysfunction, female cervical factors, reproductive tract malformations, and unexplained infertility. Patients were classified into three groups based on male BMI: normal weight group (18.5-23.9 kg/m2, n=1 673), overweight group (24.0-27.9 kg/m2, n=2 078), and obese group (BMI≥28.0 kg/m2, n=1 302). The primary objective was to assess the differences in semen parameters and perinatal outcomes among the three groups. Multivariable logistic regression and linear regression analyses were applied to adjust for potential confounders that could influence semen parameters and perinatal outcomes. Results:Semen volume in the normal weight group and overweight group [4.00 (3.00, 5.50) mL, 4.00 (3.00, 5.50) mL] was higher than that in the obese group [4.00 (3.00, 5.00) mL], with a significant difference among the three groups ( P<0.001, a P<0.001). The total sperm count in the normal group and overweight group [207.60 (121.90, 341.75)×10 6, 211.80 (119.88, 334.83)×10 6] was higher than that in the obese group [188.40 (110.96, 323.41)×10 6], with a significant difference among the three groups ( P=0.007, a P<0.001). The total progressive sperm motility count in the normal group [88.18 (43.63, 163.80)×10 6] was higher than that in the obese group [75.30 (40.29, 147.86)×10 6], with a significant difference among the three groups ( P=0.001, a P<0.001). The percentage of forward motile sperm in the normal group [(45.37±17.16)%] was higher than that in the overweight group [(44.03±17.36)%] and the obese group [(43.80±17.21)%], with a significant difference compared among the three groups ( P=0.020, a P=0.016]. In terms of perinatal outcomes, after multivariate logistic regression analysis, only the overweight and obese groups had higher newborn birth weights [(3 389.53±472.65) g, (3 408.57±507.90) g] compared with the normal group [(3 271.32±532.02) g], with a significant difference among the three groups ( P=0.010, a P=0.009). Conclusion:Higher male BMI is associated with decreased semen quality and may increase newborn birth weight following AIH treatment.
10.Major histocompatibility complex regulates immune responses in Parkinson's disease
Mengya GUAN ; Binbin REN ; Jingying WANG
Chinese Journal of Tissue Engineering Research 2025;29(25):5469-5477
BACKGROUND:The immune response is strongly associated with the pathological development of Parkinson's disease.Studies have shown that the major histocompatibility complex plays a key role in immune response.OBJECTIVE:To summarize the mechanism of major histocompatibility complex regulation of immune response and the effect on the pathological markerα-synuclein of Parkinson's disease.METHODS:"Parkinson's disease,the major histocompatibility complex,innate immunity,adaptive immunity,microglia,T cell,B cell,α-syn,inflammation,MHC-Ⅰ,MHC-Ⅱ"were used as search terms to search the literature in PubMed database.Finally,92 articles were included for reading analysis.RESULTS AND CONCLUSION:(1)Congenital immune response is involved in the occurrence and development of Parkinson's disease,and the change of microglia's pro-inflammatory and anti-inflammatory phenotypes may aggravate the degenerative changes of Parkinson's disease.(2)The phenotype and function of T cells are related to the progression of Parkinson's disease.Regulatory T cells promote the activation of anti-inflammatory microglia and inhibit Th subgroup.B-cell-mediated humoral immunity can clear pathological α-synuclein,and its specific mechanism needs further study.(3)The major histocompatibility complex is closely related to the occurrence of innate and adaptive immunity,and thus affects the inflammation of Parkinson's disease.(4)α-Synuclein can regulate the activation of microglia and the expression of major histocompatibility complex,which leads to inflammatory changes in Parkinson's disease.(5)α-Synuclein is closely related to the immune response of Parkinson's disease and has become an important target for the treatment of Parkinson's disease.

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