Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder affecting a substantial proportion of women of reproductive age. It is frequently associated with ovulatory dysfunction, infertility, and an increased risk of chronic metabolic diseases. A hallmark pathological feature of PCOS is the arrest of follicular development, closely linked to impaired intercellular communication between the oocyte and surrounding granulosa cells. Transzonal projections (TZPs) are specialized cytoplasmic extensions derived from granulosa cells that penetrate the zona pellucida to establish direct contact with the oocyte. These structures serve as essential conduits for the transfer of metabolites, signaling molecules (e.g., cAMP, cGMP), and regulatory factors (e.g., microRNAs, growth differentiation factors), thereby maintaining meiotic arrest, facilitating metabolic cooperation, and supporting gene expression regulation in the oocyte. The proper formation and maintenance of TZPs depend on the cytoskeletal integrity of granulosa cells and the regulated expression of key connexins, particularly CX37 and CX43. Recent studies have revealed that in PCOS, TZPs exhibit significant structural and functional abnormalities. Contributing factors—such as hyperandrogenism, insulin resistance, oxidative stress, chronic inflammation, and dysregulation of critical signaling pathways (including PI3K/Akt, Wnt/β‑catenin, and MAPK/ERK)—collectively impair TZP integrity and reduce their formation. This disruption in granulosa-oocyte communication compromises oocyte quality and contributes to follicular arrest and anovulation. This review provides a comprehensive overview of TZP biology, including their formation mechanisms, molecular composition, and stage-specific dynamics during folliculogenesis. We highlight the pathological alterations in TZPs observed in PCOS and elucidate how endocrine and metabolic disturbances—particularly androgen excess and hyperinsulinemia—downregulate CX43 expression and impair gap junction function, thereby exacerbating ovarian microenvironmental dysfunction. Furthermore, we explore emerging therapeutic strategies aimed at preserving or restoring TZP integrity. Anti-androgen therapies (e.g., spironolactone, flutamide), insulin sensitizers (e.g., metformin), and GLP-1 receptor agonists (e.g., liraglutide) have shown potential in modulating connexin expression and enhancing granulosa-oocyte communication. In addition, agents such as melatonin, AMPK activators, and GDF9/BMP15 analogs may promote TZP formation and improve oocyte competence. Advanced technologies, including ovarian organoid models and CRISPR-based gene editing, offer promising platforms for studying TZP regulation and developing targeted interventions. In summary, TZPs are indispensable for maintaining follicular homeostasis, and their disruption plays a pivotal role in the pathogenesis of PCOS-related folliculogenesis failure. Targeting TZP integrity represents a promising therapeutic avenue in PCOS management and warrants further mechanistic and translational investigation.

Objective To explore the influence factors and predictors of treatment response after adrenocorticotropic hormone(ACTH)in infantile epileptic spasms syndrome(IESS).Methods A retrospective analysis was conducted on 80 cases of IESS infants(50 males and 30 females)who were diagnosed and treated with ACTH in Chengdu Women's and Children's Central Hospital from January 2016 to December 2020.Patients were divided into effective group(n=39)and ineffective group(n=41)based on their response of ACTH treatment after 28 days,and their clinical data including the patients'basic information,etiology,treatment programmer,per-and post-treatment Kramer scores of electroencephalogram(EEG)hypsarrhythmia severity and so on,were collected to compare and analyze between the two groups.A modified Poisson regression model was constructed to discover predictors of outcome,and the receiver operating characteristic(ROC)curves were used to assess the prognosis evaluation of the positive predictive value.Results The ages at seizure onset ranged from one month and seven days to one year and nine months.Seizure types included simple epileptic spasms in 66 cases and combined with other types(focal and secondarily generalized seizures)in 14 cases.Thirty-two cases had been given anti-seizure medications(ASMs)before ACTH treatment.The median Kramer scores per-treatment and at 14 days post-treatment were 10.0(8.3,12.0)and 6.0(4.0,7.0),respectively.After ACTH treatment,39(48.8%)cases were effective.Compared with the effective group,the ineffective group had significantly higher proportion of abnormal perinatal conditions,unknown aetiology with normal development,ASMs given before ACTH treatment,the dosages of ACTH greater than 2 U/(kg·d),combinations of two or more ASMs,poor control,and still seizure attack after ACTH treatment of 14 days(P<0.05).Additionally,the Kramer scores after ACTH treatment of 14 days in the ineffective group were also significantly higher(P<0.05).The modified Poisson regression model showed that there were significant statistic differences between the two groups on ASMs given before ACTH treatment(RR=0.546,95%CI 0.357-0.833,P=0.005)and Kramer scores of hypsarrhythmia severity(RR=0.701,95%CI 0.620-0.792,P<0.001),while there were no significant differences between the two groups in term of ages,gender,perinatal conditions,etiologies,seizure types,Kramer scores before treatment,time lag between onset and treatment,duration of ACTH treatment,kinds of ASMs combination.ROC curve analysis showed that only Kramer scores at 14 days after ACTH treatment could predict the treatment response with sensitivity and specificity of 92.7%and 84.6%,respectively,with Youden index of 0.773.The area under the ROC curve was 0.930(95%CI 0.873-0.987,P<0.001)and the cut-point of the score was 6,indicating that the higher the Kramer scores at 14 days after ACTH treatment,the worse the treatment response.The treatment response rate would reduce by about 30.0%if the Kramer score increased by one point.Conclusion ASMs given before ACTH treatment may influence the treatment response.Kramer scores greater than 6 at day 14 after ACTH treatment may be used as a predictor of treatment response after ACTH in IESS patients.

Objective To compare early clinical and imaging results of domestic HURWA and imported Brainlab Knee3 surgical robot-assisted knee replacement.Methods A retrospective analysis was performed on 93 patients with knee os-teoarthritis(KOA)who underwent robot-assisted descending total knee arthroplasty(TKA)from January 2021 to July 2023,and they were divided into BRATKA group and HRATKA group according to use of robotic system.There were 40 patients in BRATKA group,including 16 males and 24 females,aged from 55 to 90 years old with an average of(64.3±7.0)years old;27 patients with grade Ⅲ and 13 patients with grade Ⅳ according to Kellgren-Lawrence(K-L);18 patients on the right side and 22 patients on the left side;the courses of disease ranged from 1 to 30 years with an average of(15.3±7.6)years;imported Brainlab Knee3 surgical robot assisted system was adopted.There were 53 patients in HRATKA group,including 18 males and 35 females,aged from 52 to 81 years old with an average of(64.4±8.5)years old;30 patients with grade Ⅲ and 23 patients with grade Ⅳ;21 patients on the right side and 32 patients on the left side;the courses of disease ranged from 1 to 32 years with an average of(16.4±7.9)years;HURWA surgical robot assisted system was adopted.Operation time,perioperative total blood loss,incision length and postoperative complications were compared between two groups.Deviation angle of hip-knee-an-kle angle(HKAA)before operation and on the first day after operation was compared between two groups.Later tibal compo-nent(LTC),frontal femoral component(FFC),later femoral component(LFC)and frontal tibal component(FTC)at 1 day af-ter on the first day after operation was compared between two groups.Knee Society score(KSS),visual analogue scale(VAS)and range of motion(ROM)of knee joint were compared between two groups before operation and on the 3rd and 90th day af-ter operation.Results Both groups were followed up for 11 to 18 months with an average of(14.4±2.1)months,and the wounds of all patients healed well.Operation time and incision length of BRATKA group were(132.1±34.6)min and(12.9±1.9)cm,while(94.1±10.8)min and(14.8±2.1)cm in HRATKA group,respectively,and the differences between two groups were statistically significant(P＜0.05).There were no significant difference in perioperative total blood loss and preoperative deviation angle of HKAA between two groups(P＞0.05).Deviation angle of HKAA,FFC angle and LFC angle in BRATKA group were(1.90±0.91)°,(87.90±1.51)°and(9.00±3.2)°,respectively;while(0.93±1.04)°,(89.03±0.96)° and(7.63±0.59)° in HRATKA group,respectively,and the differences between two groups were statistically significant(P＜0.05).There were no significant dif-ferences in FTC and LTC between two groups(P＞0.05).There were no significant differences in VAS of knee rest and exercise,KSS score and ROM of knee joint between two groups before operation and 3 days and 90 days after operation(P＞0.05).There was no significant difference in complications between two groups(P＞0.05).Conclusion Postoperative imaging of two robot systems showed good lower limb force line.The domestic HRATKA group had better LFC,FFC angle and HKA deviation angle than the imported BRATKA group,but there were no significant difference in postoperative knee function and pain relief.

Objective:To evaluate the gene mutation profile and prognostic significance of adult cytogenetically normal acute myeloid leukemia (CN-AML) with CEBPA-bZIP mutation. Methods:Targeted sequencing was implemented on the diagnostic bone marrow DNA samples of 141 adult CN-AML subjects with CEBPA-bZIP mutation. The nomogram model for leukemia-free survival (LFS) rate was generated by combining genetic abnormalities and clinical data. Risk stratification was conducted based on prognostic variables and the effect of risk-adjusted consolidation therapy was investigated by Kaplan-Meier method. Results:Four variables were finally included in our nomogram model after multivariate Cox analysis,and an equation for risk score calculation was obtained,risk score=1.3002×white blood cell (WBC) (≥18.77×109/L)+1.4065×CSF3R mutation positive+2.6489×KMT2A mutation positive+1.0128×DNA methylation-related genes mutation positive. According to the nomogram model,patients were further divided into low-risk group (score=0,n=46) and high-risk group (score>0,n=95). Prognostic analysis showed that the 5-year LFS rate,5-year overall survival (OS) rate,and 5-year cumulative incidence of relapse (CIR) of patients who received allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the high-risk group were 93.5％,97.1％,and 3.5％,while those in patients who received maintenance chemotherapy were 32.9％,70.5％,and 63.4％,respectively. The differences were statistically significant (all P<0.05). Allo-HSCT could significantly improve the prognosis of patients in high-risk group. However,no corresponding benefit was observed in the low-risk group. Conclusion:Adult CN-AML with CEBPA-bZIP mutation has a complex co-mutation pattern. The nomogram model based on mutations of CFS3R,KMT2A and DNA methylation-related genes together with WBC count can further divide this subset of patients into a relatively low-risk group and a relatively high-risk group. For individuals in the high-risk group,allo-HSCT is proposed as post-remission therapy. The above data will benefit the prognosis estimation and treatment decision for adult CN-AML with CEBPA-bZIP mutation.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective: To analyze the clinical and molecular diagnostic status of Fanconi anemia (FA) in China. Methods: The General situation, clinical manifestations and chromosome breakage test and genetic test results of 107 pediatric FA cases registered in the Chinese Blood and Marrow Transplantation Registry Group (CBMTRG) and the Chinese Children Blood and Marrow Transplantation Registry Group (CCBMTRG) from August 2009 to January 2022 were analyzed retrospectively. Children with FANCA gene variants were divided into mild and severe groups based on the type of variant, and Wilcoxon-test was used to compare the phenotypic differences between groups. Results: Of the 176 registered FA patients, 69 (39.2%) cases were excluded due to lack of definitive genetic diagnosis results, and the remaining 107 children from 15 hospitals were included in the study, including 70 males and 37 females. The age at transplantation treatment were 6 (4, 9) years. The enrolled children were involved in 10 pathogenic genes, including 89 cases of FANCA gene, 7 cases of FANCG gene, 3 cases of FANCB gene, 2 cases of FANCE gene and 1 case each of FANCC, FANCD1, FANCD2, FANCF, FANCJ, and FANCN gene. Compound heterozygous or homozygous of loss-of-function variants account for 69.2% (72/104). Loss-of-function variants account for 79.2% (141/178) in FANCA gene variants, and 20.8% (37/178) were large exon deletions. Fifty-five children (51.4%) had chromosome breakage test records, with a positive rate of 81.8% (45/55). There were 172 congenital malformations in 80 children.Café-au-Lait spots (16.3%, 28/172), thumb deformities (16.3%,28/172), polydactyly (13.9%, 24/172), and short stature (12.2%, 21/172) were the most common congenital malformations in Chinese children with FA. No significant difference was found in the number of congenital malformations between children with severe (50 cases) and mild FANCA variants (26 cases) (Z=-1.33, P=0.185). Conclusions: FANCA gene is the main pathogenic gene in children with FA, where the detection of its exon deletion should be strengthened clinically. There were no phenotypic differences among children with different types of FANCA variants. Chromosome break test is helpful to determine the pathogenicity of variants, but its accuracy needs to be improved.
Male ; Female ; Humans ; Child ; Fanconi Anemia/genetics* ; Chromosome Breakage ; Retrospective Studies ; Exons ; China/epidemiology*

[Abstract] Objective To explore the distribution situation of microRNA(miR) -30 gene single-nucleotide sites rs1192037A / T polymorphisms in Guangxi Zhuang population and compare its distribution differences with other populations and to analyze level of common blood lipid indexes in genotypes. Methods SNPscan was used to detect rs1192037A / T locus genotyping in 236 volunteers of Zhuang nationality in Guangxi. The genotypes and allele frequencies of rs1192037A / T locus genotyping in different genders and groups were analyzed. The levels of common blood lipids in the subjects were detected by roche automatic biochemical apparatus. Results Three genotypes of AA, AT and TT were found in rs1192037 A / T with the frequency distribution of 11. 0%, 38. 6% and 50. 4%, respectively. No significant differences in genotypes and alleles frequencies of rs1192037 A / T between different genders in Guangxi Zhuang population were observed (P > 0. 05) . However,there were significant differences in the genotype and allele frequency of miR-30 gene rs1192037 A / T in Guangxi Zhuang population compared with those of Europeans, Japanese, Africans, Mexicans and Indians published by HapMap (P<0. 05), and there were not significant difference in genotypes and allele frequencies in population of HCB and JTP (P>0. 05) . There were significant differences in the levels of TG among the 3 genotypes of rs1192037 A / T, and the TG levels of AT and TT genotypes were significantly higher than AA genotypes. Conclusion There are different degrees of rs1192037 A / T polymorphisms of miR-30 gene among Guangxi population and other ethnic populations and other regions. The polymorphism of rs1192037 A / T is related to the level of TG.

Lilii Bulbus is a commonly used Chinese herbal medicine with both medicinal and edible values, while the market products usually has the problem of sulfur fumigation. Therefore, the quality and safety of Lilii Bulbus products deserve attention. In this study, ultra-high performance liquid chromatography-time of flight-tandem mass spectrometry(UPLC-Q-TOF-MS/MS) was combined with principal component analysis(PCA) and orthogonal partial least squares discriminant analysis(OPLS-DA) to analyze the differential components of Lilii Bulbus before and after sulfur fumigation. We identified ten markers generated after sulfur fumigation, summarized their mass fragmentation and transformation patterns, and verified the structures of phenylacrylic acid markers of sulfur fumigation. At the same time, the cytotoxicity of the aqueous extracts of Lilii Bulbus before and after sulfur fumigation was evaluated. The results showed that in the concentration range of 0-800 mg·L~(-1), the aqueous extract of Lilii Bulbus after sulfur fumigation had no significant effect on the viability of human liver LO2 cells, human renal proximal tubular HK-2 cells, and rat adrenal pheochromocytoma PC-12 cells. Moreover, the viability of the cells exposed to the aqueous extract of Lilii Bulbus before and after sulfur fumigation showed no significant difference. This study identified phenylacrylic acid and furostanol saponins as markers of sulfur-fumigated Lilii Bulbus for the first time, and made clear that proper sulfur fumigation of Lilii Bulbus would not produce cytotoxicity, providing a theoretical basis for the rapid identification and quality and safety control of sulfur-fumigated Lilii Bulbus.
Humans ; Animals ; Rats ; Fumigation ; Tandem Mass Spectrometry ; Chromatography, High Pressure Liquid ; Epithelial Cells ; Sulfur

Chinese medicinal resources are the cornerstone of the sustainable development of traditional Chinese medicine industry. However, due to the fecundity of species, over-exploitation, and limitations of artificial cultivation, some medicinal plants are depleted and even endangered. Tissue culture, a breakthrough technology in the breeding of traditional Chinese medicinal materials, is not limited by time and space, and can allow the production on an annual basis, which plays an important role in the protection of Chinese medicinal resources. The present study reviewed the applications of tissue culture of medicinal plants in the field of Chinese medicinal resources, including rapid propagation of medicinal plant seedlings, breeding of novel high-yield and high-quality cultivars, construction of a genetic transformation system, and production of secondary metabolites. Meanwhile, the current challenges and suggestions for the future development of this field were also proposed.
Sustainable Development ; Plants, Medicinal/genetics* ; Plant Breeding ; Medicine, Chinese Traditional ; Technology

To study the residue and dietary risk of propiconazole in Panax notoginseng and the effects on physiological and bioche-mical properties of P. notoginseng, we conducted foliar spraying of propiconazole on P. notoginseng in pot experiments. The physiolo-gical and biochemical properties studied included leaf damage, osmoregulatory substance content, antioxidant enzyme system, non-enzymatic system, and saponin content in the main root. The results showed that at the same application concentration, the residual amount of propiconazole in each part of P. notoginseng increased with the increase in the times of application and decreased with the extension of harvest interval. After one-time application of propiconazole according to the recommended dose(132 g·hm~(-2)) for P. ginseng, the half-life was 11.37-13.67 days. After 1-2 times of application in P. notoginseng, propiconazole had a low risk of dietary intake and safety threat to the population. The propiconazole treatment at the recommended concentration and above significantly increased the malondialdehyde(MDA) content, relative conductivity, and osmoregulatory substances and caused the accumulation of reactive oxygen species in P. notoginseng leaves. The propiconazole treatment at half(66 g·hm~(-2)) of the recommended dose for P. ginseng significantly increased the activities of superoxide dismutase(SOD), peroxidase(POD), and catalase(CAT) in P. notoginseng leaves. The propiconazole treatment at 132 g·hm~(-2) above inhibited the activities of glutathione reductase(GR) and glutathione S-transferase(GST), thereby reducing glutathione(GSH) content. Proconazole treatment changed the proportion of 5 main saponins in the main root of P. notoginseng. The treatment with 66 g·hm~(-2) propiconazole promoted the accumulation of saponins, while that with 132 g·hm~(-2) and above propiconazole significantly inhibited the accumulation of saponins. In summary, using propiconazole at 132 g·hm~(-2) to prevent and treat P. notoginseng diseases will cause stress on P. notoginseng, while propiconazole treatment at 66 g·hm~(-2) will not cause stress on P. notoginseng but promote the accumulation of saponins. The effect of propiconazole on P. notoginseng diseases remains to be studied.
Panax notoginseng/chemistry* ; Panax ; Antioxidants/pharmacology* ; Saponins/pharmacology* ; Glutathione ; Risk Assessment