1.Causal association of cathepsins with female infertility: a bidirectional Mendelian randomization analysis
Lidan LIU ; Ming LIAO ; Bo LIU ; Qianyi HUANG ; Huimei WU ; Mujun LI
Obstetrics & Gynecology Science 2025;68(3):237-243
Objective:
This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods.
Methods:
A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry.
Results:
Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility.
Conclusion
This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.
2.Causal association of cathepsins with female infertility: a bidirectional Mendelian randomization analysis
Lidan LIU ; Ming LIAO ; Bo LIU ; Qianyi HUANG ; Huimei WU ; Mujun LI
Obstetrics & Gynecology Science 2025;68(3):237-243
Objective:
This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods.
Methods:
A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry.
Results:
Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility.
Conclusion
This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.
3.Causal association of cathepsins with female infertility: a bidirectional Mendelian randomization analysis
Lidan LIU ; Ming LIAO ; Bo LIU ; Qianyi HUANG ; Huimei WU ; Mujun LI
Obstetrics & Gynecology Science 2025;68(3):237-243
Objective:
This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods.
Methods:
A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry.
Results:
Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility.
Conclusion
This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.
4.Causal association of cathepsins with female infertility: a bidirectional Mendelian randomization analysis
Lidan LIU ; Ming LIAO ; Bo LIU ; Qianyi HUANG ; Huimei WU ; Mujun LI
Obstetrics & Gynecology Science 2025;68(3):237-243
Objective:
This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods.
Methods:
A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry.
Results:
Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility.
Conclusion
This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.
5.Causal association of cathepsins with female infertility: a bidirectional Mendelian randomization analysis
Lidan LIU ; Ming LIAO ; Bo LIU ; Qianyi HUANG ; Huimei WU ; Mujun LI
Obstetrics & Gynecology Science 2025;68(3):237-243
Objective:
This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods.
Methods:
A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry.
Results:
Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility.
Conclusion
This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.
6.Perioperative nursing care of 2 children with dilated cardiomyopathy undergoing orthotopic heart transplantation
Yan CHEN ; Ying GU ; Yulu XU ; Lan YE ; Huimei WANG ; Lili FU ; Yaping MI ; Ming YE ; Fang LIU
Chinese Journal of Nursing 2024;59(21):2653-2658
This study summarized the nursing experience of 2 pediatric heart transplant surgeries.Perioperative care included preoperative maintenance of cardiac function,volume management,infection prevention measures,and psychological preparation.Early postoperative care involved circulatory monitoring,management of right heart dysfunction,use of immunosuppressants,observation of rejection reactions,control of postoperative infections,nutritional support,psychological care,and home continuity care.The postoperative rehabilitation effect of the children is satisfactory after multi-team special treatment and nursing care.The postoperative hospitalization time for the 2 patients were 20 and 30 days.After discharge,2 patients showed good recovery during follow-up.
7.Effect of early relapse on the therapeutic efficacy and survival for patients with multiple myeloma and analysis of risk factors of early relapse
Liyang LIU ; Juanjuan XIAO ; Songying ZHAO ; Jing WANG ; Huimei GUO ; Jiangbo ZHANG ; Jianmei XU ; Luoming HUA ; Hua XUE
Journal of Leukemia & Lymphoma 2023;32(9):513-519
Objective:To investigate the therapeutic efficacy and prognosis of multiple myeloma (MM) patients with early relapse and the influencing factors of early relapse.Methods:The clinical data of 164 patients with newly diagnosed MM admitted to Affiliated Hospital of Hebei University from January 2018 to January 2021 were retrospectively analyzed, and 53 cases (32.3%) relapsed at the end of the follow-up. According to the recurrence within 12 months or not, the patients were divided into early relapse group and advanced relapse group; the clinical characteristics, overall response rate (ORR) and overall survival (OS) of both groups were compared. Logistic regression was used to analyze if the following indexes including age, gender, albumin, lactate dehydrogenase (LDH), β 2-microglobulin (β 2-MG), hemoglobin, creatinine, serum calcium, bone marrow plasma cell ratio, extramedullary disease, high-risk fluorescent in situ hybridization (FISH) were the influencing factors of the early relapse. Based on 7 published clinical trials, simplified early relapse MM (S-ERMM) scoring system was constructed to subgroup all relapsed patients. The difference in risk stratification between early relapsed patients and advanced relapsed patients was compared. Results:The median follow-up time of 164 newly diagnosed MM patients was 26 months (12-48 months). Among 53 relapsed MM patients, 24 cases had early relapse and 29 cases had advanced relapse. The ORR of patients with early relapse was decreased compared with that of those with advanced relapse [70.8% (17/24) vs. 89.7% (26/29), χ2 = 3.04, P = 0.001]. The median OS of the early relapse group was shorter than that of the advanced relapse group (24 months vs. not reached, P < 0.001). The OS of patient in the early relapse group with the best response ≥ complete remission (CR), ≥ very good partial remission (VGPR) and ≥ partial remission (PR) during initial induction therapy was worse than that of those in the advanced relapse group, and the differences were statistically significant ( P values were 0.008, 0.011, 0.012, respectively). Multivariate Logistic regression analysis showed low albumin (<35 g/L vs. ≥35 g/L: OR = 1.644, 95% CI 1.076-2.511, P = 0.022) and high LDH (< the upper limit of normal value vs. ≥ the upper limit of normal value: OR = 0.998, 95% CI 0.985-1.011, P = 0.030) were independent influencing factors of early relapse. Among 24 early relapse patients, there were 5 cases (20.8%), 13 cases (54.2%), 6 cases (25.0%), respectively in the S-ERMM scoring system low-risk, middle-risk, high-risk groups; among 29 advanced relapse patients, there were 18 cases (62.1%),9 cases (31.0%), 2 cases (6.9%), respectively in the S-ERMM scoring system low-risk, middle-risk, high-risk groups; the difference in risk stratification of the S-ERMM scoring system between the early relapse group and the advanced relapse group was statistically significant ( χ2 = 9.09, P = 0.003). Conclusions:MM patients with early relapse have poor therapeutic efficacy and prognosis. The prognosis is not affected by the depth of remission to first-line therapy. Low albumin and high LDH may be independent risk factors of MM patients with early relapse.
8.HPCAL1 is a novel driver of autophagy-dependent ferroptosis.
Liwen WANG ; Qin LI ; Huimei LIU ; Lanfang LI
Journal of Zhejiang University. Science. B 2023;24(11):1053-1056
自噬是细胞内一种高度保守的生理过程,可通过溶酶体系统降解过量或受损的细胞器、有毒的蛋白聚集体和病原体等。最新研究表明,海马钙素样1(HPCAL1)可作为特异性自噬受体和铁死亡的正调节因子。HPCAL1可选择性降解钙粘素2(CDH2),加速脂质过氧化,促进癌细胞铁死亡。iHPCAL1是抑制HPCAL1的小分子化合物,可抑制Erastin诱导的肿瘤细胞铁死亡。此外,它还可以抑制铁死亡诱导的急性胰腺炎。本文通过对HPCAL1在铁死亡中的具体作用机制进行概述,为HPCAL1作为铁死亡相关疾病的潜在治疗靶点提供新思路和理论依据。
Ferroptosis
;
Cell Line, Tumor
;
Autophagy
9.Effect of comprehensive intervention on executive dysfunction in children with attention deficit and hyperactivity disorder aged 7-14 years
LIU Xueqin, HU Chunhua, LUO Ye, ZHANG Pingping, HUANG Changrong, JI Huimei
Chinese Journal of School Health 2023;44(5):738-741
Objective:
To analyze the improvement of executive function in children with attention deficit hyperactivity disorder (ADHD) aged 7-14 years with comprehensive intervention and drug therapy alone, to provide a basis for intervention research to improve ADHD.
Methods:
A total of 80 children with ADHD treated in the Third People s Hospital of Ganzhou from January 2021 to June 2022 were randomly divided into intervention group and control group. The intervention group received drug and comprehensive intervention therapy, and sensory integration training once a week for 60 to 90 min each for 12 weeks, and conduct related training for caregivers and school teachers, the control group received only drug therapy. The changes of executive function were assessed by the stroop color word association test and the Wisconsin Card Sorting Test (WCST) after 12 weeks of intervention.
Results:
After intervention, the results of the Stroop color word test in the intervention group (3.25±0.98, 4.92±1.40, 10.17±1.28) showed statistically significant differences ( t=12.94, 15.36, 26.34 , P <0.01) compared with those before intervention (6.47±1.92, 8.35±1.25, 16.55±1.57). There were also statistically significant differences ( t=6.76, 15.01, 16.15, P <0.01) in the control group ( 3.95 ±1.01, 5.45±1.15, 12.35±0.86) compared to those before intervention (6.17±1.87, 8.10±1.03, 16.02±1.38). Before intervention, the number of perseverative errors, non perseverative errors, and completed categories by WCST in the intervention group were (47.77±4.50, 35.50±2.37, 3.97±1.07), and in the control group were (46.45±7.34, 34.87±2.29, 3.70±1.11). After intervention, those of the intervention group and control group were (31.42±2.01, 24.75±2.05, 5.05±1.13) and (32.82±2.57, 25.55±1.04, 4.25±1.48), respectively. There were significant differences in the two groups before and after intervention ( t =21.93, 22.27 , -10.37; 10.84, 26.81, -6.90, P <0.01). After intervention, there were significant differences in the number of Stroop color word test errors, perseverative errors and non perseverative errors in WCST between the two groups ( t=-2.94, 2.29, -9.07, -2.35 , -2.06, P <0.05).
Conclusion
Through training for children and the therapy model of comprehensive intervention could significantly improve the executive function of children for a certain extent.
10.Spastic ataxia type 8 with a homozygous mutation of the NKX6-2 gene: a case report and literature review
Biyun LI ; Huimei XIAO ; Zheng PEI ; Yanqun CHANG ; Fang LIU ; Lingan WANG
Chinese Journal of Applied Clinical Pediatrics 2022;37(6):456-459
NKX6-2 encodes a transcription factor involving the genesis and development of oligodendrocytes.Mutations in the NKX6-2 gene are related to a severe variant of hypomyelinating leukodystrophy, namely the NKX6-2-related spastic ataxia type 8 (SPAX8). As of March 24, 2020, there are 36 cases of SPAX8 involving 11 mutations of the NKX6-2 gene, which has not been reported in Chinese population.This article for the first time reported a 31-month-old Chinese boy diagnosed as SPAX8 caused by a novel mutation of the NKX6-2 gene at c. 234dup(p.Leu79Alafs*? ) admitted to the Department of Rehabilitation, Guangdong Women and Children Hospital in October 2019 retrospectively.He presented severe global psychomotor delay, spasticity, nystagmus, hearing impairment and trichiasis, ametropia of both eyes, and retinal degeneration of the right eye, which have not been reported in previous cases.His elder sister presented relevant manifestations, but did not perform the genetic testing.Through this case report and literature review, the genotype and phenotype of SPAX8 were expanded.


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