OBJECTIVE: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025. RESULTS: The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene. CONCLUSION SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans ; Silver-Russell Syndrome/diagnosis* ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Retrospective Studies

In recent years, the incidence of dry eye disease(DED)is increasing, positioning it as one of the most prevalent diseases affecting the ocular surface. Inflammatory response is the pathological basis of DED, involving various inflammatory mediators and inflammatory signaling pathways. Consequently, anti-inflammatory treatment emerges as a fundamental strategy for preventing and managing DED. This review summarizes the classic inflammatory factors involved in the development and progression of DED, including interleukins, tumor necrosis factor, matrix metalloproteinases, chemokines, and cell adhesion molecules. It also discusses the relevant inflammatory signaling pathways: the MAPKs pathway, NF-κB pathway, Wnt pathway and TLR pathway. Additionally, this review addresses the mechanisms of action and alterations in relevant biomarkers associated with current first-line recommended anti-inflammatory therapies, including corticosteroids, immunosuppressants, nonsteroidal anti-inflammatory drugs, and traditional Chinese medicine approaches to inflammation management. This comprehensive overview aims to enhance understanding of the inflammatory mechanisms underlying DED while exploring future therapeutic prospects.

In recent years, the incidence of dry eye disease(DED)is increasing, positioning it as one of the most prevalent diseases affecting the ocular surface. Inflammatory response is the pathological basis of DED, involving various inflammatory mediators and inflammatory signaling pathways. Consequently, anti-inflammatory treatment emerges as a fundamental strategy for preventing and managing DED. This review summarizes the classic inflammatory factors involved in the development and progression of DED, including interleukins, tumor necrosis factor, matrix metalloproteinases, chemokines, and cell adhesion molecules. It also discusses the relevant inflammatory signaling pathways: the MAPKs pathway, NF-κB pathway, Wnt pathway and TLR pathway. Additionally, this review addresses the mechanisms of action and alterations in relevant biomarkers associated with current first-line recommended anti-inflammatory therapies, including corticosteroids, immunosuppressants, nonsteroidal anti-inflammatory drugs, and traditional Chinese medicine approaches to inflammation management. This comprehensive overview aims to enhance understanding of the inflammatory mechanisms underlying DED while exploring future therapeutic prospects.

Laboratory animals are essential in scientific research and experimental teaching in colleges and universities. Disciplines such as life sciences, medicine, pharmacy, chemistry, and biomedical engineering heavily rely on animal experiments. The standardized barrier environmental facility for laboratory animals provides a fundamental platform for stable, scientific, and reliable animal experiment results. Rigorous access management for such facilities is a vital safeguard for maintaining standardized operations of facilities, controlling the quality and stability of laboratory animals, mitigating pathogen contamination risks among animals and laboratory staff, and preventing biosecurity incidents such as zoonotic disease outbreaks. Taking the small-scale barrier facilities for laboratory rats and mice at Nanjing University's Xianlin Campus, operational since 2019, as an example, this study focuses on the safety access management system of these facilities. Based on five years of operational data and accumulated experience in studying and optimizing the access management system, this study, from the perspectives of management system development and the formulation and implementation of standard operating procedures, reviews five aspects of access management: personnel access, animals access, material access, equipment access, and air circulation control. Furthermore, these aspects are systematically analyzed and summarized to serve as a reference for the construction and management of the laboratory animal facilities in universities, while also contributing to scientific research, public health security, and the well-being of experimental personnel.

Objective To investigate the correlation between the inflammatory burden index(IBI)and major adverse cardiovascular events(MACEs)in patients with ST-segment elevation myocardial infarction(STEMI)after percutaneous coronary intervention(PCI),and to assess the efficacy of IBI in predicting in-hospital and long-term MACEs.Methods This retrospective study included 465 STEMI patients who received PCI treatment in No.904 Hospital of Joint Logistics Support Force of PLA from Dec.2017 to Dec.2021.The IBI was calculated for each patient.The predictive value for in-hospital and long-term MACEs was evaluated using receiver operating characteristic(ROC)curves,and the area under curve(AUC)was calculated.The population was grouped based on the optimal IBI cut-off value for clinical characteristic analysis.Multivariate logistic regression and Cox regression analyses were used to identify factors independently associated with MACEs.The Kaplan-Meier estimator and log-rank test were used to assess the MACE risk of different IBI groups.Results The AUC value for predicting MACEs during hospitalization in STEMI patients using IBI was 0.687,and the AUC value for predicting long-term MACEs was 0.634.Multivariate logistic regression analysis revealed that a high IBI 102.33 mg/L)independently increased the risk of MACEs during hospitalization in STEMI patients(odds ratio=10.900,95％confidence interval[95％CI]4.273-29.180,P＜0.001).Multivariate Cox regression analysis further indicated that during long-term follow-up of STEMI patients,a high IBI(≥55.88 mg/L)independently predicted MACEs(hazard ratio=1.989,95％CI 1.128-3.506,P=0.018).Conclusion IBI is a valuable predictor for the occurrence of MACEs during hospitalization and long-term follow-up after PCI in STEMI patients.

Objective To understand the status of quality control in occupational medical examination (OME) institutions in Guizhou Province. Methods A total of 124 registered OME institutions actively conducting OME in Guizhou Province were selected as the study subjects using the judgment sampling method. The evaluation was conducted by on-site document reviews, practical skill assessments, and investigation of OME practices for quality evaluation and analyzing their quality control performance. Results The public institutions accounted for 71.0% with a 41.5% of OME workload, while private institutions accounted for 29.0% with a 58.5% of OME workload among these 124 OME institutions. The overall pass rate for quality evaluation of OME institutions was 16.9% (21/124), with a total of 1 296 items failed to pass the quality evaluation. Among the unqualified items, organizational structure, quality control management systems, OME quality control, and information reporting accounted for 15.2%, 21.7%, 52.8%, and 10.3%, respectively. The unqualified rate of quality assessment items of OME institutions was 24.5% (1 296/5 288), and the unqualified rate was lower in public institutions compared with private institutions (22.4% vs 29.3%, P<0.01). The rates of the three key unqualified items, including chest radiography conclusion evaluation, audiogram calculation and conclusion evaluation, and blood lead comparison were 9.8%, 74.8% and 71.4%, respectively. The rates of unqualified audiometry operation test and chief physician theory test were 74.8% and 9.7%, respectively. Conclusion The quality of OME institutions in Guizhou Province requires continuous improvement, particularly in enhancing the abilities of audiometry operation, calculating audiogram results and conducing right conclusion, and blood lead inter-laboratory comparision.

Objective:To explore the impact of the two-way referral model on compliance and prognosis in patients with heart failure.Methods:This bidirectional cohort study enrolled chronic heart failure (CHF) patients treated at Qilu Hospital of Shandong University or designated primary hospitals between March 2018 and March 2022. Patients were categorized into two groups based on referral status: two-way referral group (participating in the referral model with≥1 follow-up visit at primary hospitals) and the core hospital group (receiving treatment and follow-up exclusively at Qilu Hospital). Baseline clinical characteristics were collected and compared between groups. Patients underwent followed-up, with primary endpoints including follow-up rate, drug (β-blockers, angiotension converting enzyme inhibitor (ACEI)/angiotensin Ⅱ receptor blockers (ARB)/angiotensin receptor-neprilysin inhibitor (ARNI), sodium-glucose cotransporter 2 inhibitors and mineralocorticoid receptor antagonists) utilization rate and target dose achievement rate. Secondary endpoints encompassed changes from baseline in left ventricular ejection fraction (LVEF), left ventricular end-diastolic diameter (LVEDd), and N-terminal pro-brain natriuretic peptide (NT-proBNP), plus cardiovascular mortality and heart failure rehospitalization. Generalized linear mixed models analyzed longitudinal trends in LVEF, LVEDd, and NT-proBNP levels. Kaplan-Meier curves and Cox regression evaluated LVEF recovery rates, supplemented by subgroup analyses. Multivariate logistic regression was used to identify factors influencing target dose achievement rate for β-blockers and ACEI/ARB/ARNI therapies in CHF patients.Results:A total of 357 patients were enrolled, aged 53 (41, 63) years, including 256 males (71.7%). 157 patients were in the two-way referral group and 200 patients in the core hospital-treated group. Compared with the core hospital-treated group, the two-way referral group had lower baseline LVEF (28 (22, 34)% vs. 31 (23, 36)%, P=0.021) and systolic blood pressure (116 (104, 125) mmHg vs. 121 (109, 134) mmHg (1 mmHg=0.133 kPa), P=0.010). The 12-month follow-up rate of the two-way referral group was higher than the core hospital-treated group (73.8% vs. 56.0%, P=0.004). No significant between-group differences were observed in drug utilization rate of β-blockers, ACEI/ARB/ARNI, or sodium-glucose cotransporter 2 inhibitors during follow-up (all P>0.05), while mineralocorticoid receptor antagonists use showed a declining trend in both groups. Although the core hospital-treated group had higher target dose achievement rates for β-blockers (65.4% vs. 49.3%, P=0.042) and ACEI/ARB/ARNI (79.8% vs. 65.8%, P=0.046) than the two-way referral group, multivariate logistic regression indicated that the two-way referral model was not a negative predictor for these outcomes (all P>0.05). Both groups showed improved NT-proBNP, LVEDd, and LVEF from baseline (all P<0.001) with no significant difference in trends between groups (all P>0.05). There was no significant difference in the composite incidence (7.6% vs. 6.5%, P=0.674) and cumulative incidence (log-rank P=0.684) of cardiovascular death and heart failure rehospitalization at 12 months between two groups. Conclusion:The two-way referral model demonstrates advantages in improving medication adherence, drug utilization rates, and targetdoseachievement rates among CHF patients. This model not only promotes cardiac functional recovery but also reduces risks of cardiovascular mortality and heart failure rehospitalization, achieving comparable therapeutic and management outcomes to those observed in core hospital-treated patients.

Objective Predictive value of mismatch repair(MMR)protein expression in endometrial cancer(EC)tissues and blood immune-inflammatory marker levels on postoperative survival.Methods A total of 118 patients with EC who were treated at Jiamusi Central Hospital from January 2017 to January 2020 were selected as study subjects.The status of MMR proteins in endometrial cancer tissues was analyzed by immunohistochemistry,and based on the staining results,patients were divided into a MMR-deficient group(dMMR group,n=40)and a MMR-proficient group(pMMR group,n=78).The preoperative systemic immune-inflammation index(SII)was calculated.The pelvic lymph node status of the patients was observed.Enzyme-linked im-munosorbent assay(ELISA)was used to detect serum levels of tumor necrosis factor-alpha(TNF-α),interleukin(IL)-1β,IL-6 and C-reactive protein(CRP)in the patients.Disease-free survival(DFS)and overall survival(OS)as well as their influencing factors were analyzed between the two groups.Results Comparison of age,FIGO stage,tumor histopathology,pelvic lymph node status and SII between the pMMR group and dMMR groups in patients,and the differences were statistically significant(Z/t/χ2=3.202～11.151,all P＜0.05).The average DFS of patients in pMMR group and dMMR group was 1 477 days and 756 days,the average OS was 1 588 and 826 days respectively,and the differences between the two groups were statistically significant(Log Rank χ2=24.804,30.411,all P<0.001).COX regression analysis showed that SII was an independent influencing factor of DFS in EC patients(Wald χ2=8.152,P<0.05).SII,pelvic lymph node status and MMR status were independent influencing factors of OS in EC patients(Wald χ2=7.066,5.936,6.971,all P<0.05).The ability of combining MMR status with SII to predict DFS and OS in EC patients was further improved,with AUC of 0.793 and 0.859,sensitivity of 72.4%and 75.0%,specificity of 78.3%and 80.0%,respectively.Conclusion MMR status and increased SII are independent influencing factors of poor postoperative prog-nosis of EC patients,and their combination is helpful to predict disease-free survival and overall survival of EC patients.

The transendothelial transport of low-density lipoprotein(LDL)and its subendothelial accumulation represent a central pathogenic mechanism in atherogenesis.This process involves a variety of receptors and molecular mechanisms that work together to regulate the transport of LDL in endothelial cells and its accumulation in blood vessel wall.In addition to receptor-mediated transport mechanisms,physiological and pathological factors such as hormones,inflammatory mediators and metabolites also play an important role in it.Recent studies have further elucidated the critical regulatory roles of these factors in LDL transendothelial transport,suggesting that targeting LDL transcytosis may represent an effective strategy for the prevention of early atherosclerosis and the treatment of related vascular diseases.This review summarizes recent advances in this field and discusses their potential clinical applications.

Objective:To investigate the effect of bed board of carbon fiber for treatment combined with fixed bottom board on verification results of Portal Dosimetry(PD)dose of intensity-modulated radiation therapy(IMRT)plan of fixed field for cervical cancer.Methods:A total of 15 patients with cervical cancer who admitted to Nanjing First Hospital from January 2019 to January 2020 were retrospectively selected,and the IMRT plans of fixed field for all patients were designed.The radiation field with 180° gantry angle was selected for each case to make the corresponding PD dose verification plan,and each verification plan included two subfields:AA180_0 and AA180_1.Three types of materials were placed between the accelerator head and the electronic portal imaging device(EPID),which included material without carbon fiber,bed board with carbon fiber for treatment,and the combination of the bed board with carbon fiber for treatment and the fixed bottom board with carbon fiber,when the Clinac iX accelerator was used to conduct verification plan for each case.The γ passing rates of the subfields(AA180_0 and AA180_1)and the total field(AA180)among three kinds of conditions,which included material without carbon fiber,bed board with carbon fiber for treatment,and the combination of the bed board with carbon fiber for treatment and the fixed bottom board with carbon fiber,were compared and analyzed.Results:For the subfield AA180_0,the γ passing rates under three different material conditions were respectively(96.09±1.38)%,(90.48±2.24)%and(81.85±2.46)%.For the subfield AA180_1,the γ passing rates under the above conditions were respectively(96.05±1.06)%,(91.86±2.22)%and(86.26±2.74)%.For the total field AA180,the γ passing rates were respectively(90.78±1.40)%,(84.82±2.56)%and(78.49±3.18)%.The γ passing rates of the subfield AA180_0,subfield AA180_1,and the total field AA180 showed statistically significant differences among the three different material conditions(F=177.80,80.00,91.42,P<0.01).Compared with materials without carbon fiber,the γ passing rate of the total field AA180 of the combination of the bed board with carbon fiber for treatment and the fixed bottom board with carbon fiber significantly decreased by 12.29%.Conclusion:In the PD dose verification of IMRT for cervical cancer,the bed board with carbon fiber for treatment combined with the fixed bottom board will produce adverse effect for the verification results.The effect of the single use of bed board for treatment is relatively small.The combined use of the bed board with carbon fiber for treatment and the fixed bottom board will lead to a significant deterioration in the verification result of PD dose.