1.Cornelia de Lange syndrome: advances in genetic and molecular mechanisms
Yuqin AN ; Ning CAO ; Fanchao KONG ; Huirong ZHANG
Acta Universitatis Medicinalis Anhui 2026;61(5):948-954
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by multisystem developmental abnormalities, with its core pathogenic mechanism closely linked to dysfunction of the cohesin complex. Integrated multi‑omics evidence revealed that cohesin dysfunction disrupted three‑dimensional chromatin architecture and epigenetic homeostasis, triggered genome‑wide transcriptional dysregulation, and perturbed the regulatory networks of signaling pathways such as Wnt/β‑catenin, TGF‑β/BMP, and Sonic Hedgehog (SHH). These disturbances collectively drove multisystem phenotypes involving the neurological, cardiovascular and skeletal systems, and laid a theoretical foundation for further understanding of the pathological mechanisms of CdLS and optimizing molecular diagnosis. This review summarized the genetic basis (including epigenetic dysregulation mechanisms) and disruption of key developmental signaling pathways in CdLS,and discussed strategies for optimizing molecular diagnosis.
2.Construction of a goal-oriented efficacy evaluation system for traditional Chinese medicine in the prevention and treatment of primary liver cancer
Journal of Clinical Hepatology 2026;42(5):1009-1014
Traditional Chinese medicine (TCM) plays an important role in the full-cycle management of primary liver cancer; however, the current evidence-based evaluation system with the main assessment index of objective tumor remission is mainly centered on randomized controlled trials and systematic reviews/meta-analyses and cannot fully reflect the characteristics and advantages of TCM. Based on the current status of TCM efficacy evaluation in the prevention and treatment of liver cancer, this article proposes the construction of a multi-dimensional evaluation system that is oriented by stage-specific treatment goals and integrates outcome indicators with process indicators. Outcome indicators include modern medical endpoints such as overall survival and recurrence-free survival, and process indicators include short-term outcomes such as the improvement in TCM syndrome, patient-reported outcomes, the remission rate of adverse events, and the discontinuation rate of the core regimen. It is emphasized that the development of standardized TCM regimens should follow the order of theoretical connotation, accumulation of proven cases, observational evaluation, and interventional evaluation. Furthermore, it is recommended to incorporate artificial intelligence approaches into this evaluation system, so as to promote the intelligent and precise assessment of TCM efficacy.
3.FAH promotes glioblastoma progression by activating the PI3K/AKT/mTOR signaling pathway
Shihao LI ; Bing ZHAO ; Tieniu YANG ; Jinliang YANG ; Yongliang ZHANG ; Zhongsen LI ; Shunli LI ; Ning CHEN ; Jianbiao WANG ; Jia LI ; Qingfang MA
Acta Universitatis Medicinalis Anhui 2026;61(4):662-676
ObjectiveTo investigate the functional role and underlying molecular mechanisms of fumarylacetoacetate hydrolase (FAH) in the progression of glioblastoma (GBM). MethodsDifferential expression analysis was performed on the TCGA-GBM, GSE4290, and GSE116520 datasets. Weighted gene co-expression network analysis (WGCNA) was used to identify key modules, and Cox regression and risk modeling were used to screen prognostic genes. Immune infiltration analysis of prognostic genes was carried out by using single-cell RNA sequencing panels. The clinical expression signature of FAH in GBM was analyzed in the TCGA and HPA databases. The functional role of FAH was validated by in vitro and in vivo experiments, and pathway analysis was performed to explore the underlying mechanisms. ResultsA total of 152 overlapping genes were identified across the three GBM datasets (P<0.05). WGCNA revealed that the turquoise module was most strongly associated with tumor purity, stromal score, immune score, and ESTIMATE score (P<0.001). Compared with normal tissues, three prognostic genes (CTSD, FAH, and THBD) were upregulated in GBM and correlated with immune infiltration (P<0.05). FAH mRNA and protein levels were elevated in GBM tissues relative to normal tissues, and its expression was significantly associated with age stratification and TP53 mutation (P<0.05). CCK-8 assay results showed that, compared with the shNC group, the proliferative activity of GBM cells in the shFAH group was reduced (P<0.001). Transwell migration and invasion assays demonstrated that, relative to the shNC group, the numbers of migrated and invaded cells in the shFAH group decreased (P<0.05). Western blot analysis revealed that the protein expression levels of PI3K, p-AKT, and p-mTOR in the shFAH group decreased compared with those in the shNC group (P<0.05). In vivo subcutaneous xenograft experiments further confirmed that tumor volume and weight significantly decreased in the shFAH group compared with the shNC group (P<0.001). ConclusionFAH promotes GBM progression by activating the PI3K/AKT/mTOR signaling pathway and may serve as a potential therapeutic target for GBM.
4.The Structure and Function of The YopJ Family Effectors in The Bacterial Type III Secretion System
Ao-Ning LI ; Wen-Bo LI ; Yu-Ying LU ; Min-Hui ZHU ; Yu-Long QIN ; Yong ZHAO ; Zhao-Huan ZHANG
Progress in Biochemistry and Biophysics 2026;53(3):516-533
The Type III Secretion System (T3SS) serves as a pivotal virulence apparatus for numerous Gram-negative bacterial pathogens, enabling them to infect both animal and plant hosts. Functioning as a molecular syringe, the T3SS directly translocates bacterial effector proteins from the bacterial cytoplasm into the interior of eukaryotic host cells. These effectors are central weapons that precisely manipulate a wide spectrum of host cellular physiological processes, ranging from cytoskeletal dynamics to immune signaling, to establish a favorable niche for bacterial survival and proliferation. Among the diverse arsenal of T3SS effectors, the YopJ family constitutes a critical group of virulence factors. Members of this family are characterized by a conserved catalytic triad structure—a hallmark of the CE clan of cysteine proteases that has been evolutionarily repurposed to confer acetyltransferase activity. A defining and intriguing feature of these enzymes is their stringent dependence on a host-derived eukaryotic cofactor, inositol hexakisphosphate (IP6), for allosteric activation. This requirement acts as a sophisticated molecular safeguard, ensuring enzymatic activity only within the appropriate host environment, thereby preventing detrimental effects on the bacterium itself. While seminal studies on individual members such as Yersinia’s YopJ and Salmonella’s AvrA have provided deep mechanistic insights, a systematic and integrative understanding of the structure-function relationships across the entire family remains fragmented. Key questions persist regarding how a conserved catalytic core has diverged to recognize distinct host substrates in different kingdoms of life. To address this gap, this article provides a systematic review of the YopJ family, focusing on three interconnected aspects: their structural features, their catalytic mechanism, and their divergent immunosuppressive strategies in animal versus plant hosts. By conducting a comparative analysis of the sequences and resolved three-dimensional structures of three representative members (e.g., HopZ1a, PopP2, AvrA), we elucidate regions of significant variation embedded within the conserved core catalytic architecture. These variable regions, often involving surface loops and substrate-binding interfaces, are crucial determinants of target specificity and functional specialization. The functional divergence of this effector family is most apparent when comparing their modes of action in different hosts. In animal hosts, YopJ-family effectors primarily sabotage innate immune signaling pathways. They achieve this by acetylating key serine and threonine residues within the activation loops of critical kinases in the MAPK and NF‑κB pathways. This post-translational modification blocks the phosphorylation and subsequent activation of these kinases, leading to potent suppression of inflammatory cytokine production. Conversely, in plant hosts, the strategy broadens to dismantle the two-tiered plant immune system. YopJ homologs target a more diverse set of substrates, including immune-associated receptor-like cytoplasmic kinases (RLCKs), microtubule networks via tubulin acetylation (which disrupts cellular trafficking and signaling), and transcription factors central to defense gene regulation. This multi-target approach effectively suppresses both Pattern-Triggered Immunity (PTI) and Effector-Triggered Immunity (ETI). In conclusion, this synthesis aims to deepen the mechanistic understanding of YopJ family-mediated pathogenesis by integrating structural biology with cellular function across host kingdoms. Elucidating the precise molecular basis for substrate selection—how conserved platforms achieve target diversity—is a major frontier. Furthermore, this knowledge provides a vital theoretical foundation for developing novel anti-virulence strategies. Targeting the conserved IP6-binding pocket or the catalytic acetyltransferase activity itself represents a promising avenue for designing broad-spectrum inhibitors that could disarm this critical family of bacterial effectors, potentially offering new therapeutic approaches against a range of pathogenic bacteria.
5.Current Status and Strategic Recommendations for Randomized Controlled Trials on Functional Dyspepsia-Irritable Bowel Syndrome Comorbidity:from a Real-World Research Perspective
Ning DAI ; Linlin JIANG ; Huie ZHANG ; Fang LU
Journal of Traditional Chinese Medicine 2026;67(9):946-950
By analyzing the current status of randomized controlled trials (RCTs) on functional dyspepsia (FD) and irritable bowel syndrome (IBS) comorbidity, we identified several critical issues which include insufficient repor-ting of FD and IBS subtypes, inadequate risk assessment of drug combination, lack of composite, objective, and long-term outcomes, and weak evidence support for clinical practice guidelines. It is suggested that future clinical research on FD-IBS comorbidity should further strengthen the application of real-world studies. The use of composite outcomes and long-term follow-up is recommended to improve the quality of evidence, while greater attention should be paid to patients' preferences and self-management to enhance the applicability of findings. Based on the existing issues in clinical studies of traditional Chinese medicine (TCM) for FD-IBS comorbidity, we propose to consolidate the foundation of TCM-specific efficacy evaluation to better reflect the advantages of syndrome differentiation and treatment, optimize real-world study designs to better support clinical decision- making, and introduce intelligent objective evaluation technologies to improve the objectivity and accuracy of TCM clinical efficacy assessment.
6.Current Status and Strategic Recommendations for Randomized Controlled Trials on Functional Dyspepsia-Irritable Bowel Syndrome Comorbidity:from a Real-World Research Perspective
Ning DAI ; Linlin JIANG ; Huie ZHANG ; Fang LU
Journal of Traditional Chinese Medicine 2026;67(9):946-950
By analyzing the current status of randomized controlled trials (RCTs) on functional dyspepsia (FD) and irritable bowel syndrome (IBS) comorbidity, we identified several critical issues which include insufficient repor-ting of FD and IBS subtypes, inadequate risk assessment of drug combination, lack of composite, objective, and long-term outcomes, and weak evidence support for clinical practice guidelines. It is suggested that future clinical research on FD-IBS comorbidity should further strengthen the application of real-world studies. The use of composite outcomes and long-term follow-up is recommended to improve the quality of evidence, while greater attention should be paid to patients' preferences and self-management to enhance the applicability of findings. Based on the existing issues in clinical studies of traditional Chinese medicine (TCM) for FD-IBS comorbidity, we propose to consolidate the foundation of TCM-specific efficacy evaluation to better reflect the advantages of syndrome differentiation and treatment, optimize real-world study designs to better support clinical decision- making, and introduce intelligent objective evaluation technologies to improve the objectivity and accuracy of TCM clinical efficacy assessment.
7.Impact of X-ray irradiation on stored platelets and their mitochondrial function
Na WANG ; Ning AN ; Xiaoying WANG ; Dongyan YANG ; Xiaole ZHANG ; Yajuan WANG ; Jie CHEN ; Xingbin HU ; Chen CHEN
Chinese Journal of Blood Transfusion 2026;39(1):16-23
Objective: To investigate the effects of clinical routine X-ray irradiation dose (average irradiation dose: 29.7±0.54 Gy) on the function, apoptosis, activation state and mitochondrial function of platelets during in vitro storage, so as to provide experimental evidence for optimizing platelet irradiation strategies. Methods: A paired experimental design was adopted. Platelets were collected from 12 healthy donors, and each sample was equally divided into the irradiated group and the control group (non-irradiated). All samples were stored for 5 days under standard platelet preservation conditions (22±2℃, continuous oscillation). Flow cytometry was used to detect platelet count, apoptosis rate (Annexin V+ positive rate), activation markers (CD62P, PAC-1, CD42b) and reactive oxygen species (ROS) level. Meanwhile, mitochondrial-specific probes were used to evaluate changes in mitochondrial count, membrane potential and adenosine triphosphate (ATP) content. Additionally, transmission electron microscopy (TEM) was employed to observe the ultrastructure of platelets, with a focus on mitochondrial morphology, platelet membrane integrity and granule distribution. Results: Within 5 days of storage, the platelet count was (841±89.16)×10
/L in the irradiated group and (824.5±92.88)×10
/L in the control group, with no statistically significant difference between the two groups (P=0.54). The apoptosis rate was (4.94±1.39) % in the irradiated group and (5.50±0.83) % in the control group, showing no significant difference (P=0.31). For activation indicators, the CD62P expression rate was (24.32±7.57) % in the irradiated group versus (25.21±8.13) % in the control group (P=0.43). The PAC-1 positive rates were (12.15±4.43) % and (11.75±3.40) % in the irradiated group and control group, respectively (P=0.44). The CD42b expression rates were (12.14±4.43) % and (11.75±3.4) % in the two groups, respectively (P=0.47). The ROS levels were (31.98±8.1) % and (30.64±5.89) % in the two groups, respectively (P=0.45). No significant differences were found in the above indicators. For mitochondrial function indicators, the mitochondrial count was (55.88±11.49) % in the irradiated group and (53.5±7.24) % in the control group (P=0.57). The ATP contents were (42.45±5.29) % and (41.58±9.50) % in the irradiated group and control group, respectively (P=0.77). The relative membrane potential values were (59.53±10.89) % and (57.49±6.54) % in the two groups, respectively (P=0.47). No significant difference were observed on the mitochondrial function-related indicators. TEM further confirmed that the ultrastructure of platelets in the irradiation group was intact, the mitochondrial morphology was normal, and no pathological changes such as swelling or vacuolization were observed. Conclusion: This study evaluated the impact of conventional-dose X-ray irradiation on platelet storage quality, confirming that this dose does not significant impair platelet count, apoptosis rate, activation status, or mitochondrial function. This finding provides important experimental evidence for the clinical promotion of X-ray irradiation technology and suggests its potential as a safe alternative to γ irradiation. Future studies could further expand the sample size and extend the observation period to verify the effects of X-ray irradiation on long-term platelet storage and post-transfusion in vivo survival rate.
8.Study on the variation patterns of corneal biomechanical parameters and binocular symmetry in children of different genders aged 8 to 16 years
Mei LI ; Biao WANG ; Fen ZHANG ; Yuting ZHANG ; Ze PEI ; Ning LU ; Feng CHANG
International Eye Science 2026;26(3):483-488
AIM: To investigate variation patterns of corneal biomechanical parameters and binocular symmetry among children of different genders aged 8-16 years.METHODS:A retrospective study was conducted, and children who underwent optometric examinations at the ophthalmology department of our hospital were enrolled between January 2022 and December 2024. Measurements included the flat keratometry(K1), steep keratometry(K2), and mean curvature(Km)of the anterior corneal surface, horizontal visible iris diameter(HVID), central corneal thickness(CCT), corneal endothelial cell density(CECD), average cell size(ACS), coefficient of variation(CV), and hexagonality(HEX). Corneal parameters and binocular differences were compared between genders and across age groups.RESULTS:A total of 621 children(1 242 eyes)were enrolled in this study, including 284 males(568 eyes), 337 females(674 eyes), 528 children aged 8-12 years(1 056 eyes), and 93 children aged 13-16 years(186 eyes). In children aged 8-16 years, the K1, K2, Km and CV of both eyes, as well as the interocular CCT differences in boys were significantly lower than those in girls(all P<0.05), while the HVID and HEX of both eyes, as well as the CCT of the left eye in boys were significantly higher than those in girls(all P<0.05). Children aged 8-12 years had significantly higher K1, Km, CECD and HEX in both eyes, and significantly lower ACS in both eyes than those aged 13-16 years(all P<0.05). K1, K2, Km, CECD and HEX in both eyes were negatively correlated with age(P<0.05); ACS in both eyes was positively correlated with age(P<0.001); K1 and Km of the right eye were positively correlated with the CECD of the right eye(P<0.05), and K1 and CCT of the left eye were positively correlated with the CECD of the left eye(P<0.05).CONCLUSION:Significant gender differences exist in corneal parameters among children aged 8 to 16 years, while binocular symmetry remained stable.
9.Longitudinal cohort study on pubertal development trajectories of testicular and breast development among children
Chinese Journal of School Health 2026;47(3):408-412
Objective:
To characterize longitudinal trajectories of testicular development in boys and breast development in girls, so as to provide reference data for understanding patterns of pubertal sexual maturation.
Methods:
Based on the Shanghai Pudong New Area Cohort Study on Growth, Development and Health in Children and Adolescents, a baseline survey was conducted in 2020 using a mult stage cluster random sampling method. A total of 2 184 children who completed all follow ups during the primary school period from 13 elementary schools in Pudong New Area,Shanghai,with annual follow ups during 2021-2025. Testicular volume and Tanner stage of breast development were assessed by professional physicians using standardized visual inspection and palpation. The age distribution of testicular volume and breast development was fitted by using cumulative link mixed models and Turnbull s nonparametric maximum likelihood estimation method.
Results:
Median ages for testicular volumes of 2, 3, 4 and 5 mL in boys were 7.07, 9.24, 10.29, and 11.57 years old, respectively. Median ages for Tanner breast stages Ⅱ, Ⅲ, Ⅳ, and Ⅴ in girls were 8.55 , 10.17, 11.18, and 13.78 years old, respectively. Based on overweight and obesity, stratified analysis showed that earlier pubertal onset among overweight/obesity children, and the key milestones for pubertal initiation were testicular volume reaching 4 mL in boys and breast Tanner II in girls for 10.29, 10.83; 8.18, 9.00 years.
Conclusion
Overweight and obesity are associated with earlier pubertal initiation,but there are certain gender and developmental stage specific patterns.
10.Analysis of characteristics of newly reported HIV positive male student cases in Jiangsu Province from 2023 to 2024
LIU Xiaoyan, CHEN Yuheng, SHI Hongjie, NING Xin, ZHANG Ying, YANG Dandan
Chinese Journal of School Health 2026;47(3):425-429
Objective:
To investigate the characteristics and potential risk factors associated with HIV infection among newly reported HIV positive male student cases in Jiangsu Province from 2023 to 2024, so as to provide evidence for targeted intervention strategies.
Methods:
Data were obtained from the China CDC Surveillance System on newly reported HIV positive male student cases from 2023 to 2024. A survey was conducted to collect information on demographic characteristics, knowledge of AIDS prevention, education and training history, HIV testing history, behavioral and substance use patterns, and other relevant factors prior to HIV diagnosis among 343 newly reported HIV positive male student cases in Jiangsu Province. Multivariate Logistic regression analysis was used to assess the risk factors of HIV infection among male students.
Results:
Among the HIV positive male student cases, homosexual behavior accounted for 93.88% of transmission routes, while 10.20% involved heterosexual contact, as well as 4.08% for two sexual hehaviors. Awareness of HIV prevention knowledge was 97.08%, and 66.76% had previously undergone HIV testing. Among the respondents, 10.50% had used rush poppers as enhancers, and 72.30% had received HIV prevention education within the past year. Among students cases with homosexual behavior, the median time from first homosexual contact to HIV diagnosis was ≤2 years, with 54.66% of cases falling into this category; the most common way of finding same sex partners was through social software, accounting for 88.20% of cases, while the proportion of those via "Blued" app reached 87.07% ; the proportion of using condoms every time during sexual activity in the past six months was 12.27%. Among the student cases with homosexual behavior, the results of multiple Logistic regression analysis showed that student cases aged 18 to 24 ( OR =4.52) and >24 ( OR = 19.23 ), without receiving education on HIV prevention in the past year ( OR =1.86), having consistent condom use ( OR =2.73) and not using condoms ( OR =2.12) during the last sexual activity were more likely to had the first same sex sexual activity for more than 3 years before being diagnosed as HIV positive cases (all P <0.05). Student cases who were uncertain about their partner s sexual identity ( OR =0.33), and who primarily identified same sex partners through "other" means ( OR = 0.23 ) were more likely to avoid HIV testing; in contrast, student cases with consistent condom use during the last homosexual encounter ( OR =7.20) was significantly associated with increased likelihood of HIV testing (all P <0.05).
Conclusions
Newly reported HIV positive male student cases in Jiangsu Province exhibit serious discrepancies between knowledge and practice regarding HIV prevention. Measures are needed to accelerate the optimization of campus based HIV prevention education content and delivery methods. Simultaneously, enhanced management of extracurricular male populations is essential to effectively control the spread of HIV.


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