Objective: To investigate the impact of RHAG 808A variant, commonly identified in the Chinese population, on RhAG protein, RhD and RhCE antigens expression through in vivo and in vitro expression analysis. Methods: A missense mutation of RHAG gene (c. 808G>A, p. Val270Ile) with high frequency was found in KMxD database. Bioinformatics analysis was performed using Polyphen-2 and Provean software. High resolution melting (HRM) method was utilized to screen for the variant carriers in the blood donors. The expression of RhAG protein, RhD and RhCE antigens on the surface of red cells of variant carriers were detected via flow cytometry. Wild-type and mutant vectors of RHAG were constructed and transfected into HEK 293T cells for in vitro expression analysis. Then, the expression of RhAG protein, RhD and RhCE antigens were analyzed by flow cytometry. Results: Polyphen-2 and Provean software suggested that the amino acid change (p. Val270Ile) of RhAG protein may be harmful or neutral respectively. Among the 999 blood donors from Guangzhou Blood Center, 4 homozygous carriers and 99 heterozygous carriers of RHAG 808A mutant allele were identified. The frequency of this allele was 5.4% (107/1 998). No significant differences in RhAG protein, RhD and RhCE antigens expression level was identified between the homozygous carriers, heterozygous carriers of RHAG 808A variant allele and the wild-type individuals. In vitro analysis for antigen expression study obtained the similar results. Conclusion: The RHAG 808A variant allele commonly identified in the Chinese population has no effect on the expression of RhAG protein, RhD and RhCE antigens, so the variant should be a population polymorphism site.

Objective:To explore the application of an automatic slide-dropping instrument in bone marrow chromosomal karyotyping.Methods:The effects of manual and automatic dropping methods under different environmental humidity were retrospectively analyzed, and the repeatability of the automatic dropping method was analyzed.Results:No statistical difference was found between the results of automatic and manual dropping methods under the optimum ambient humidity and high humidity ( P>0.05). At low humidity, there was a statistical difference between the two methods ( P<0.05). With regard to the repeatability, the coefficient of variations of the automatic dropping method for the number of split phases, the rate of good dispersion and the rate of overlap were all lower than those of the manual dropping method. A statistical difference was also found in the number of split phases ( P<0.05) but not in the discrete excellent rate and overlapping rate between the two methods ( P>0.05). Conclusion:Better effect can be obtained by the automatic dropping instrument. It is suggested to gradually replace manual work with machine.

Objective:To explore the standardized performance of a FISH probe before clinical detection.Methods:The probe sensitivity and specificity of ETV6/RUNX1 were analyzed via interphase and metaphase FISH in 20 discarded healthy bone marrow samples. The threshold system of the probe was established using an inverse beta distribution, and an interpretation standard was established. Finally, a parallel-controlled polymerase chain reaction detection study was conducted on 286 bone marrow samples from patients at our hospital. The clinical sensitivity, specificity, and diagnostic coincidence rate of ETV6/RUNX1 FISH detection were analyzed, and the diagnostic consistency of the two methods was analyzed by the kappa test.Results:The probe sensitivity and specificity of the ETV6/RUNX1 probe were 98.47% and 100%, respectively. When 50, 100, and 200 cells were counted, the typical positive signal pattern cutoffs were 5.81%, 2.95%, and 1.49%, respectively, and the atypical positive signal pattern cutoffs were 13.98%, 9.75%, and 6.26%, respectively. The clinical sensitivity of FISH was 96.1%, clinical specificity was 99.6%, diagnostic coincidence rate was 99.00%, diagnostic consistency test kappa value was 0.964, and P value was <0.001.Conclusion:For FISH probes without a national medical device registration certificate, standardized performance verification and methodology performance verification can be performed using laboratory developed test verification standards to ensure a reliable and accurate reference basis for clinical diagnosis and treatment.

Objective:To analyze the clinical characteristics and prognosis of patients with myelodysplastic syndrome (MDS) with a bone marrow nucleated erythroid cell proportion of greater than or equal to 50% (MDS-E) .Methods:The clinical characteristics and prognostic factors of patients with MDS-E were retrospectively analyzed by collecting the case data of 1 436 newly treated patients with MDS diagnosed in the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences from May 2014 to June 2023.Results:A total of 1 436 newly diagnosed patients with complete data were included in the study, of which 337 (23.5%) patients with MDS-E had a younger age of onset and lower neutrophil and platelet counts compared with those in patients with an erythroid cell proportion of less than 50% (MDS-NE) (all P<0.05). The proportion of MDS cases with ring sideroblasts (MDS-RS) was higher in the MDS-E group than in the MDS-NE group, and multi-hit TP53 mutations were more enriched in the MDS-E group than in the MDS-NE group (all P<0.05). Among patients with MDS-RS, the frequency of complex karyotypes and the TP53 mutation rate were significantly lower in the MDS-E group than in the MDS-NE group (0 vs 11.9%, P=0.048 and 2.4% vs 15.1%, P=0.053, respectively). Among patients with TP53 mutations, the frequencies of complex karyotypes and multi-hit TP53 mutations were significantly higher in the MDS-E group than in the MDS-NE group (87.5% vs 64.6%, P=0.003 and 84.0% vs 54.2%, P<0.001, respectively). Survival analysis of patients with MDS-RS found that the overall survival (OS) in the MDS-E group was better than that in the MDS-NE group [not reached vs 63 (95% CI 53.3-72.7) months, P=0.029]. Among patients with TP53 mutations and excess blasts, the OS in the MDS-E group was worse than that in the MDS-NE group [6 (95% CI 2.2-9.8) months vs 12 (95% CI 8.9-15.1) months, P=0.022]. Multivariate analysis showed that age of ≥65 years ( HR=2.47, 95% CI 1.43-4.26, P=0.001), mean corpuscular volume (MCV) of ≤100 fl ( HR=2.62, 95% CI 1.54-4.47, P<0.001), and TP53 mutation ( HR=2.31, 95% CI 1.29-4.12, P=0.005) were poor prognostic factors independent of the Revised International Prognostic Scoring System (IPSS-R) prognosis stratification in patients with MDS-E. Conclusion:Among patients with MDS-RS, MDS-E was strongly associated with a lower proportion of complex karyotypes and TP53 mutations, and the OS in the MDS-E group was longer than that in the MDS-NE group. Among patients with TP53 mutations, MDS-E was strongly associated with complex karyotypes and multi-hit TP53 mutations, and among TP53-mutated patients with excess blasts, the OS in the MDS-E group was shorter than that in the MDS-NE group. Age of ≥65 years, MCV of ≤100 fl, and TP53 mutation were independent adverse prognostic factors affecting OS in patients with MDS-E.

Objective:To design an electronic nose that can detect and identify urinary volatile organic compounds (VOCs) as marker gases for bladder cancer.Methods:Isopropyl alcohol, ethylbenzene, acetic acid, and ammonia were selected as target gases, and 8 metal oxide gas sensors were used to construct sensor arrays for testing and collecting experimental data, and different characteristics were normalized. Recursive feature elimination (RFE) was used to select the best feature subset, and principal component analysis (PCA) and linear discriminant analysis (LDA) were further introduced to reduce the data dimension and facilitate visual analysis. In addition, three machine learning algorithms, including support vector machine (SVM), random forest (RF), and K-nearest neighbor (KNN), were combined to train and verify the model.Results:When the feature number was 12, the accuracy of the model classification had the best performance. The feature subset consisted of 5 differences, 5 sensitivities, and 2 integrals, and the data was reduced to 12 dimensions. Only PCA couldn’t distinguish the four gases. The LDA classification performance was significantly better than that of PCA, except that isopropyl alcohol and acetic acid had a small overlap area. LDA could distinguish ethylbenzene and ammonia from isopropyl alcohol and acetic acid; the sample points were gathered, which means the clustering performance was also better. The prediction accuracy of SVM, RF, and KNN was 0.85, 0.56, and 0.79, respectively. After model verification, the classification accuracy of PCA+SVM, LDA+RF, and LDA+KNN was 0.97, 0.94, and 0.97, respectively.Conclusions:An electronic nose was designed to detect and identify urinary VOCs marker gases for bladder cancer.

Objective:To explore the changes of large-scale functional brain networks and network topological properties in patients with major depressive disorder (MDD) whose diagnosis had not changed after 5 years of follow-up.Methods:Totally 521 cases of hospitalized MDD patients were recruited from January 2012 to August 2018, and another 204 cases of gender- and age-matched healthy controls were recruited. All participants completed resting-state functional magnetic resonance scanning and clinical assessment. Their diagnosis were reviewed 5 years after discharge.A total of 258 participants whose diagnosis had not changed were counted into the MDD group for analysis. The differences in large-scale brain network connectivity between the two groups were analyzed by constructing a whole-brain functional network, on the basis of which the altered topological properties of the sensorimotor network (SMN), visual network (VN) and default mode network (DMN) were further analyzed between the two groups.The SPSS 24.0 software was used for data analysis and the independent sample t-test and χ2 test were used for the data comparison of the two groups. Results:Compared with the healthy controls, the MDD group had significantly decreased network clustering, mainly involving the SMN, VN and DMN (edge P<0.001, cluster P<0.05). The MDD group had decreased functional connectivity(FC) strength within the SMN, VN and DMN networks, the FC strength between the SMN and VN networks, between the frontoparietal network (FPN) and the DAN networks were decreased(all P<0.05, FDR corrected). Graph-theory analysis showed that local efficiency, clustering coefficient, and normalized shortest path length were decreased in the MDD group, node efficiency was decreased in the left ventral medial prefrontal cortex and the middle of the bilateral insula, node centrality was decreased in the middle of the bilateral insula and occipital lobe, and the betweenness was decreased in the middle of the right insula (all P<0.05, FDR corrected). Conclusion:MDD exhibits abnormal network functional connectivity, disruption of network topological properties, diminished optimal information processing, and to some extent reflects the severity of depressive symptoms. The decreased ability of information transfer flow in the insula plays an important role for the functional abnormality of the network.

Objective:To investigate the major considerations of domestic orthopaedic trauma surgeons in China when they diagnose and treat Mason type Ⅱ radial head fractures.Methods:A questionnaire survey was conducted from January 15, 2022 to January 16, 2022 using the convenience sampling method among domestic orthopedic trauma surgeons in China. The survey covered the surgeons' basic information, evaluation of Mason type Ⅱ radial head fractures, treatment preferences, and surgical indications recognized.Results:The present survey retrieved 474 eligible questionnaires. 358 surgeons (75.5%, 358/474) believed that the Morrey modified classification for Mason type Ⅱ radial head fracture could properly guide their diagnosis and treatment. 460 surgeons (97.0%, 460/474) believed that diagnosis of the fracture should be based on a combination of elbow X-ray and elbow CT examinations. Young age (80.2%, 380/474), dominant side involvement (66.2%, 314/474), concomitant ipsilateral upper limb injury (78.7%, 373/474), large fracture displacement (67.7%, 321/474), separation of fracture fragments from the main bone (91.6%, 434/474), and fracture involvement area >30% (81.6%, 387/474) were the main factors considered by the orthopedic trauma surgeons when they chose surgical treatment. Large fracture displacement (71.7%, 340/474), especially large articular steps (83.5%, 443/474), separation of fracture fragments from the main bone (75.9%, 360/474), and limited forearm rotation or joint clicking (82.7%, 392/474) found during physical examination were recognized as surgical indications for Mason type Ⅱ fracture by orthopedic trauma surgeons.Conclusion:Domestic orthopedic trauma surgeons in China prefer surgical treatment for Mason type Ⅱ radial head fractures with loss of cortical contact and large displacement, especially large articular steps.

Objective:To investigate the current status and developing trends of study of adult radial head fracture and its treatment.Methods:The literature related to radial head fracture from January 2010 to September 2022 was reviewed through Web of science database. A bibliometric method and visualization software were used to study all the data collected and the 100 most-cited studies related to the treatment of radial head fracture to understand the research status, related cooperation, research trends and research hotspots in the field of adult radial head fracture.Results:A total of 387 studies were included, with a citation frequency of 4,982 times, an average citation frequency of 12.9 times for each study, and an H index of 36. The most studies were published in 2020 (38 studies). The citation frequency increased year by year, reaching the highest (783 times) in 2019. For the 100 most-cited studies, the citation frequency was 2,235 times, and the average citation frequency was 22.4 times for each study. The United States (100 studies), Harvard University (30 studies), Journal of Shoulder and Elbow Surgery (69 studies), and Ring D (19 studies) were, respectively, the most contributing country/region, institution, journal, and author. The country/region, institution, and author that participated the most in the collaboration were, respectively, the United States, Amphia Hospital, and Eygendaal D. Radial head fractures of Mason types Ⅱ and Ⅲ and combined with other elbow fractures and dislocations have attracted the intense attention since 2010. The current research hotspots are combined injuries and radial head prosthesis. Conclusion:Analysis of the bibliometric characteristics of the literature related to adult radial head fracture since 2010 displays the current research status and research hotspots to help following researchers to fully understand the historical development and recent hotspots in the field of adult radial head fracture.

Objective:To evaluate left ventricular structural and functional abnormalities and vascular calcification in kidney transplant (KT) recipients, explore their influencing factors and examine the effects of mineral and bone disorders.Methods:From January 2017 to December 2019, retrospective analysis was performed for 292 KT recipients. Biochemical markers of bone metabolism, bone mineral density (BMD), left ventricular hypertrophy (LVH), left ventricular ejection fraction (LVEF), left ventricular diastolic function, coronary artery calcification (CAC) score and thoracic aortic calcification (TAC) score were assessed. Linear regression and binary Logistic regression analyses were employed for evaluating the influencing factors of cardiovascular parameters and the influence of abnormal mineral and bone metabolism.Results:Postoperative abnormalities in mineral and bone disorders were manifested mostly as hypercalcemia (8.9%, 26/292), hypophosphatemia (27.1%, 79/292), low 25-hydroxyvitamin D (25(OH)vitD) (67.0%, 196/292), hyperparathyroidismhigh parathyroid hormone (PTH) (50.6%, 148/292), elevated bone turnover markers and bone loss rate of 25%-30%. The prevalence of LVH, LVEF<50%, left ventricular diastolic dysfunction, high CAC score and high TAC score were 39.9%(116/292), 0%, 13.1%(38/292), 17.3%(50/292) and 39.9%(116/292) respectively. The results of multivariate analysis indicated that LVH was correlated positively with hypertension and serum calcium (Ca) (95% CI: 1.242-28.080, P=0.026; 95% CI: 1.714-277.584, P=0.018); LVEF was correlated positively with lumbar vertebrae BMD (95% CI: 0.000 1-0.005 5, P=0.041); Left ventricular diastolic dysfunction was correlated positively with age, diabetes and parathyroid hyperplasia/nodules (95% CI: 1.050-1.176, P<0.001; 95% CI: 2.118-43.813, P=0.003 and 95% CI: 1.419-9.103, P=0.007); High CAC score was correlated positively with recipient age and dialysis time (95% CI: 1.036-1.160, P=0.001; 95% CI: 1.009-1.041, P=0.002); High TAC score was correlated positively with age (95% CI: 1.095-1.215, P<0.001). Correlation analysis indicated that TAC was correlated positively with serum Ca ( r=0.233, P=0.003), bone-specific alkaline phosphatase (BALP)( r=0.325, P<0.001) and type Ⅰ collagen cross-linked N-terminal peptide (NTX)( r=0.204, P=0.011) and negatively with femoral neck BMD ( r=0.194, P=0.017). Conclusions:There is a high prevalence of left ventricular structural and functional abnormalities and vascular calcification. It is closely correlated with mineral and bone disorders.

Objective:To analyze the compliance with enhanced recovery after surgery (ERAS) protocol in geriatric patients with fresh fracture.Methods:A retrospective study was conducted on the data of the patients with fresh extremity fracture which had been included in the ERAS perioperative protocol database during May 2019 and January 2022 at Department of Orthopaedic Trauma, Beijing Jishuitan Hospital. The patients ≥65 years were selected as a study group which was matched by a control group of the patients < 65 years in sex, fracture type and date frame of hospitalization at a ratio of 1∶1. The 2 groups were compared in the compliance with the 14 ERAS core perioperative elements.Results:The study group and the control group each included 66 patients who were matched in sex and fracture type. 62.1% (41/66) of the patients in the study group had combined diseases, significantly more than that [16.7% (11/66)] in the control group( P<0.001). Altogether, the compliance with the 14 ERAS core perioperative elements was 78.6 (71.4, 85.7) % in both groups, showing no significant difference between them ( P>0.05). Respectively, the compliance with the postoperative oral intake in the study group (80.3%, 53/66) was significantly lower than that in the control group (92.4%, 61/66) ( P<0.05); the compliance with the other 13 elements showed no statistically significant difference between the 2 groups ( P>0.05). Conclusion:The ERAS perioperative protocol can be carried out smoothly in geriatric patients with fresh fracture whose compliance may be comparable to that of the none-elderly patients.