Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.

ObjectiveThis paper aims to conduct the feature analysis and correlation analysis on the ocular collateral features and differential metabolites in patients with chronic hepatitis B （CHB） complicated by glucose metabolism disorder （GMD），particularly those with the damp-heat syndrome type，by integrating shadowless scleral imaging and metabolomics technologies. MethodsA total of 313 patients were recruited from the Hepatology and Endocrinology Outpatient Departments of Public Health Clinical Center of Chengdu according to the inclusion/exclusion criteria，and they were divided into a CHB group and a CHB complicated by GMD groups （damp-heat syndrome group and non-damp-heat syndrome group）. All patients underwent high-definition ocular image acquisition and feature extraction using an intelligent analysis system for shadowless scleral imaging to analyze the differences in the counting of morphological feature scores of ocular collaterals among groups. By using a digital sampling method，24 patients from each group were randomly selected，along with 20 healthy volunteers，for untargeted metabolomic analysis of peripheral serum. Differential metabolites were identified，statistically analyzed，and subjected to potential biomarker analysis and pathway enrichment. Spearman method was performed to conduct the correlation analysis on the differential ocular collateral features and differential metabolites，followed by correlation network construction. ResultsCompared with those in the CHB group，patients with CHB complicated by GMD showed significant changes in ocular collateral feature scores such as "hillock"，"blood vessels"，and "pale dusky coloration" （P<0.05）. In comparison with those in the healthy group，metabolites including N-acetylglucosamine，acetylhomoserine，and myo-inositol （AUC>0.7） were identified as potential biomarkers for the disease. Compared with those in the CHB complicated by GMD group with non-damp-heat syndrome，patients with damp-heat syndrome exhibited significant changes in feature scores of "plaques"，"yellow coloration"，"spleen"，and "gallbladder" （P<0.05）. In comparison with those in the healthy group，metabolites such as O²′-4a-cyclic tetrahydrobiopterin，theobromine，xanthurenic acid，and L-glutamic acid 5-phosphate （AUC>0.7） were identified as potential biomarkers for the damp-heat syndrome type. The Spearman correlation analysis reveals weak to moderate linear correlations between the differential scleral collateral features and metabolites. By constructing a "disease-syndrome" network of ocular diagnosis and metabolites，"xanthurenic acid-gallbladder" and "theobromine-plaque/yellow coloration" were identified as specific molecular-phenotypic correlated biomarker clusters for CHB complicated by GMD with dampness-heat syndrome. ConclusionPatients with CHB complicated by GMD demonstrate differential ocular diagnostic features and serum metabolites corresponding to disease states and dampness-heat syndrome. These objective biomarkers can guide both clinical syndrome differentiation and medication. The macro-micro integration based on ocular feature clusters and potential metabolic biomarkers offers an innovative approach to a combined traditional Chinese and Western medicine diagnosis and treatment model for this disease.

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

Objective:To observe and analyze the intraocular stability of intraocular lens (IOL) with different haptic designs after cataract surgery by swept-source optical coherence tomography (SS-OCT) and analyze its influencing factors.Methods:A cohort study was conducted.Medical records of 130 consecutive patients (130 eyes) diagnosed with age-related cataract, who underwent phacoemulsification and IOL implantation at The First Affiliated Hospital of Zhengzhou University from August 2021 to August 2022 were collected.According to the type of IOL implanted, the patients were divided into four groups, L-haptic group with 34 cases (34 eyes), modified C-haptic group with 30 cases (30 eyes), plate-haptic group with 36 cases (36 eyes), four-haptic group with 30 cases (30 eyes).Before surgery, the patient's axial length and IOL diopter were measured with an optical biometer, and the angle kappa and angle alpha were measured with corneal topography.At 3 months after surgery, the anterior chamber depth, decentration and tilt of IOL, the space area between IOL and posterior capsule (AREAP) of the four groups were measured using SS-OCT.And anterior chamber depth changes and diopter changes were calculated.This study complied with the Declaration of Helsinki.The study protocol was reviewed and approved by the Medical Ethics Committee of The First Affiliated Hospital of Zhengzhou University (No.2022-KY-1222-002).All subjects were aware of the purpose and significance of this study and voluntarily signed the informed consent form.Results:The average decentration and tilt of the modified C-haptic, L-haptic, plate-haptic, and four-haptic IOL decreased successively at 3 months after surgery, with no statistically significant differences ( H=7.055, F=5.162; all P>0.05).The postoperative anterior chamber depth, the anterior chamber depth change, the diopter change and the AREAP of the modified C-haptic, L-haptic, plate-haptic, and four-haptic IOL decreased successively at 3 months after surgery, and the differences were statistically significant (all P<0.05).Preoperative angle kappa was positively correlated with postoperative 3-month IOL tilt ( r=0.554, P<0.001).Preoperative angle alpha was positively correlated with postoperative 3-month IOL tilt ( r=0.469, P<0.001).The multiple linear regression model constructed with preoperative angle kappa and preoperative angle alpha as independent variables and IOL tilt as dependent variable was statistically significant ( F=39.526, P<0.001, R2=0.384).For every 1 mm increase in preoperative angle kappa, postoperative tilt will increase by 0.438°; for every 1 mm increase in preoperative angle alpha, postoperative tilt will increase by 0.300°. Conclusions:All four IOLs with different haptic designs have good horizontal centering stability.The plate-haptic and the four-haptic IOLs have superior vertical stability compared to L-haptic and modified C-haptic designs.Preoperative angles kappa and alpha can be used as indicators to predict postoperative IOL tilt.

Objective:To study the expression of serum microRNA (miRNA)-335 and miRNA-375 in patients with papillary thyroid carcinoma (PTC) and their relationship with pathological features and prognosis.Methods:Using a case-control study method, 94 PTC patients admitted to Huaian Hospital of Huaian City from March 2021 to March 2023 were selected as PTC group. Another 73 healthy individuals who underwent physical examinations during the same period were selected as control group. Quantitative real-time PCR was used to determine the relative expression levels of serum miRNA-335 and miRNA-375. PTC patients were followed up until September 30, 2024, and the patient's prognosis was record. The relative expression levels of serum miRNA-335 and miRNA-375 were compared between the two groups, among different pathological features, and among patients with different prognoses. Multivariate logistic regression analysis was performed to identify independent risk factors for prognosis in PTC patients.Results:The relative expression level of serum miRNA-335 in the PTC group (2.35 ± 0.68) was higher than that in the control group (0.98 ± 0.04), while the relative expression level of miRNA-375 (0.65 ± 0.21) was lower than that in the control group (1.01 ± 0.02, P < 0.001). There was no statistically significant differences in the relative expression levels of serum miRNA-335 and miRNA-375 among PTC patients with different tumor diameters, tumor locations, tumor numbers, and vascular invasion ( P > 0.05). The relative expression level of serum miRNA-335 in TNM stages Ⅲ - Ⅳ was higher than that in stages Ⅰ - Ⅱ, while the relative expression level of miRNA-375 in TNM stages Ⅲ - Ⅳ was lower than that in stages Ⅰ - Ⅱ ( P < 0.001). The relative expression level of serum miRNA-335 of patients with lymph node metastasis was higher than that of patients without lymph node metastasis, while the relative expression level of serum miRNA-375 of patients with lymph node metastasis was lower than that of patients without lymph node metastasis ( P < 0.001). The relative expression level of serum miRNA-335 in the poor prognosis group was higher than that in the good prognosis group, while the relative expression level of miRNA-375 in the poor prognosis group was lower than that in the good prognosis group ( P < 0.001). Vascular invasion, lymph node metastasis, high expression of miRNA-335, and low expression of miRNA-375 were all independent risk factors for prognosis in PTC patients ( P < 0.05). Conclusion:Patients with PTC have high serum miRNA-335 expression and low miRNA-375 expression, and the expression of miRNA-335 and miRNA-375 is closely related to TNM staging, lymph node metastasis, and prognosis, which deserves clinical attention.

Objective To develop a novel type of transparent simulation manikin as a surgical training model to meet the surgical treatment demand on the medical train.Methods A transparent manikin was developed with the steps of basic data collection,motherboard design and manufacture and module production and assembly.Firstly,basic data collection was carried out with reference to standardized human anatomy and parameters.Secondly,some software such as UG NX7.5 was used to construct the motherboard of the manikin.Finally,module production and assembly were performed with the materials of acrylic,transparent rubber,silicone and hydrogel and the technology of silicone infusion.Results The transparent manikin developed had its anatomy structure close to that of the real body and high visuality for its internal and external components,which simulated a variety of war wounds and thus could be integrated with the surgical training scenarios on the medical train effectively.Conclusion The transparent manikin developed is characterized by high visuality,modularity and blood flow,and meets the demands for surgical training on the medical train.[Chinese Medical Equipment Journal,2025,46(6):111-115]

Objective To explore the feasibility and corresponding implementation methods of constructing a sample resource bank based on individual-level data of completed clinical trials and using it to construct external controls for drug/device clinical trials.Methods Taking the pre-marketing clinical trial of transcatheter active valve replacement(TAVR)for the treatment of aortic valve stenosis as an example,the individual-level databases of multiple trials were standardized to form a sample bank.The original data of any trial in the sample bank were selected as the experimental group,and the remaining samples were selected as the control group.The potential confounding was handled by using the propensity score matching and stratification methods to clarify the process of constructing external controls based on the sample bank of individual-level data of clinical trials.Results This study included individual-level data of single-group trials of 4 TAVR devices,with a total of 569 subjects(59.2%male).The number of subjects in Trials 1 to 4 was 120,120,163,and 166,respectively.Propensity score matching enabled the matching of 113,117,125,and 147 subjects with comparable or similar characteristics from individual-level data from other trials,respectively,demonstrating a high matching success rate.The PS score distribution plot after stratification showed that the proportions of subjects in the experimental and control groups in strata 1 to 5 in scheme 1 were 4/103,11/103,22/92,32/87,and 51/64,respectively.For all constructed external controlled trials,a certain number of control samples with similar baseline characteristics to the experimental groups were distributed within each propensity score stratum.The results of the simulation test also reflected the potential differences between different devices in the 12-month all-cause mortality rate.Conclusions The sample bank constructed with individual-level data from clinical trials,as a high-quality data source,can serve as a source of external control for single-arm trials in the same field,and as a useful supplement to the external control scenario of real-world evidence to support drug and device development.At the same time,targeted research on research methods and bias control measures in related fields is also needed.

Objective:To observe and analyze the intraocular stability of intraocular lens (IOL) with different haptic designs after cataract surgery by swept-source optical coherence tomography (SS-OCT) and analyze its influencing factors.Methods:A cohort study was conducted.Medical records of 130 consecutive patients (130 eyes) diagnosed with age-related cataract, who underwent phacoemulsification and IOL implantation at The First Affiliated Hospital of Zhengzhou University from August 2021 to August 2022 were collected.According to the type of IOL implanted, the patients were divided into four groups, L-haptic group with 34 cases (34 eyes), modified C-haptic group with 30 cases (30 eyes), plate-haptic group with 36 cases (36 eyes), four-haptic group with 30 cases (30 eyes).Before surgery, the patient's axial length and IOL diopter were measured with an optical biometer, and the angle kappa and angle alpha were measured with corneal topography.At 3 months after surgery, the anterior chamber depth, decentration and tilt of IOL, the space area between IOL and posterior capsule (AREAP) of the four groups were measured using SS-OCT.And anterior chamber depth changes and diopter changes were calculated.This study complied with the Declaration of Helsinki.The study protocol was reviewed and approved by the Medical Ethics Committee of The First Affiliated Hospital of Zhengzhou University (No.2022-KY-1222-002).All subjects were aware of the purpose and significance of this study and voluntarily signed the informed consent form.Results:The average decentration and tilt of the modified C-haptic, L-haptic, plate-haptic, and four-haptic IOL decreased successively at 3 months after surgery, with no statistically significant differences ( H=7.055, F=5.162; all P>0.05).The postoperative anterior chamber depth, the anterior chamber depth change, the diopter change and the AREAP of the modified C-haptic, L-haptic, plate-haptic, and four-haptic IOL decreased successively at 3 months after surgery, and the differences were statistically significant (all P<0.05).Preoperative angle kappa was positively correlated with postoperative 3-month IOL tilt ( r=0.554, P<0.001).Preoperative angle alpha was positively correlated with postoperative 3-month IOL tilt ( r=0.469, P<0.001).The multiple linear regression model constructed with preoperative angle kappa and preoperative angle alpha as independent variables and IOL tilt as dependent variable was statistically significant ( F=39.526, P<0.001, R2=0.384).For every 1 mm increase in preoperative angle kappa, postoperative tilt will increase by 0.438°; for every 1 mm increase in preoperative angle alpha, postoperative tilt will increase by 0.300°. Conclusions:All four IOLs with different haptic designs have good horizontal centering stability.The plate-haptic and the four-haptic IOLs have superior vertical stability compared to L-haptic and modified C-haptic designs.Preoperative angles kappa and alpha can be used as indicators to predict postoperative IOL tilt.

Objective:To synthesize evidence regarding discharge preparation services for patients with severe acute pancreatitis (SAP) .Methods:Systematic search of relevant domestic and international websites and databases for diverse evidence concerning discharge preparation in SAP patients were conducted. Literature quality of the included studies was evaluated, and related evidence was extracted and graded.Results:Based on the researchers' evaluation and synthesis, 25 pieces of evidence related to discharge preparation services for patients with SAP were identified and summarized. These were categorized into five key areas: comprehensive assessment, care planning, multidimensional interventions, post-discharge follow-up, and ongoing evaluation. Among them, the evidence with stronger recommendation levels included multidisciplinary team assessment within 24 hours of admission, the assignment of dedicated personnel to coordinate, monitoring the discharge plan and continuous evaluation of the effectiveness of discharge preparation services.Conclusions:This study summarizes the best evidence available regarding discharge preparation services for SAP patients. It may provide an evidence-based foundation for nursing staff to standardize clinical practice and to further develop discharge preparation programs.