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.

Primary small bowel tumors have low incidence and contain predominantly solid components, and the lesions are similar and difficult to be detected and distinguished with multislice spiral CT (MSCT) plain scans. In this article we describe contrast-enhanced MSCT technique and imaging characteristics for solid small bowel tumors or small bowel tumors containing predominantly solid components, including the type and use of contrast agents. In contrast-enhanced MSCT, small bowel imaging with CT has the advantages of determining the true extent of intestinal wall lesions, the possible extent of wall penetration, the degree of mesenteric involvement, and distant metastases, as well as easiness to detect and identify the blood supply vessels of small bowel tumors and assessment of the corresponding complications. Contrast-enhanced MSCT has become the best noninvasive imaging technique for the diagnosis, evaluation, and staging of solid small bowel tumors or small bowel tumors containing predominantly solid components. CT texture analysis (CTTA) is a new research hotspot and can be useful for the correct diagnosis of primary small bowel tumors containing predominantly solid components.

Objective:To establish and validate analytic performance of laboratory-developed real-time quantitative polymerase chain reaction (RQ-PCR) test (LDT) for BCR::ABL1 p210 transcript.Methods:Using the primes and probes released by the Europe Against Cancer Program(EAC), we have established BCR::ABL1 p210 RQ-PCR test. The laboratory-specific conversion factor (CF) was determined by the WHO 1 st International Genetic Reference Panel, and a two-level internal control is developed using a mixture of K562 and HL60 cell lines was created to ensure traceability. Analytical performance, including analytical accuracy, analytical precision, linearity range, analytic sensitivity and specificity of RQ-PCR LDT test for BCR::ABL1 p210 transcript were validated according to CLIS guidelines. Furthermore, a comparison was made with an FDA-cleared RQ-PCR in vitro diagnostics (IVD) kit by Bland-Altman analysis. Results:The laboratory specific conversion factor (CF) for LDT RQ-PCR was determined to be 0.535 based on WHO 1 st International Genetic Reference Panel, which can be used to convert to the BCR::ABL international scale (BCR::ABL1 IS) reliably. The repeatability of BCR::ABL1 IS results at 4 different molecular response (MR0.5,MR1.5,MR2.5,MR3.5) levels are 7.44%, 5.33%, 9.12% and 18.06%, respectively, with total precision of 7.99%, 5.49%, 10.95% and 17.99%. The previous CAP proficiency test (PT) results from our laboratory were within the acceptable range of variation. MR results of our laboratory and MR mean value of all CAP-PT laboratory is highly correlated ( r=0.999, P<0.01), and consistent according to Bland-Altman analysis. Furthermore, the LDT method in our laboratory has a high correlation with the test results of FDA-cleared Qiagen IVD kit ( r=0.997, P<0.01). BCR::ABL1 IS results of BCR::ABL1 e13a2 transcript showed linearity within the range of 0.001%-7.454%, with a maximum coefficient of variation (% CV) 64.09%. The linearity range of e14a2 transcript BCR::ABL1 IS was 0.002%-12.398%, with a maximum % CV of 43.37%. The test has a limit of detection (LoD) of MR5.0 (0.001% IS) for e13a2 and MR4.8 (0.002% IS) for e14a2 transcript, respectively. The limit of quantitation (LoQ) for both e13a2 and e14a2 transcripts was MR4.7 (0.002% IS). The test exhibited 100% specificity, with no cross-reactivity observed between the p190 transcript and p210. Conclusions:The analytic performance of BCR::ABL1 p210 LDT RQ-PCR test from our laboratory is excellent, which can meet the clinical needs of BCR::ABL1 detection in patients with chronic myeloid leukemia.

Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Logistic Models ; Phenotype ; Risk Factors

Autoimmune retinopathy (AIR) is a group of immune-mediated retinopathies that usually results in severe loss of vision and visual field defects.AIR mainly includes paraneoplastic and non-paraneoplastic syndromes.One main feature of AIR is the presence of circulating anti-retinal antibodies (ARAs) in peripheral blood, which are produced through anti-tumor responses, anti-microbial responses, and immune responses induced by autoantigen fragments following retinal injury, and mainly attack retinal photoreceptor cells.ARAs are important for the diagnosis, progression assessment and treatment outcome of AIR.These ARAs often appear before the diagnosis of cancer and can be helpful for the early detection of malignant tumors.The mechanism of ARAs production, its pathological role in AIR, and its significance in clinical practice were reviewed in this article.

Objective:To investigate the clinical features and multimodal imaging features of eyes with perifoveal exudative vascular anomalous complex (PEVAC).Methods:A retrospective case study. From February 2014 to November 2020, 7 eyes of 7 patients with PEVAC diagnosed by ophthalmology examination in Department of Ophthalmologyof Peking University People's Hospital were included in this study. There were 6 males and 1 female. The age was 60.1±9.1 years. All were monocular. The chief complaints of visual deformation and vision loss were 3 and 1 cases, respectively. All patients underwent best corrected visual acuity (BCVA), fundus color photography, optical coherence tomography (OCT), fundus fluorescein angiography (FFA). BCVA examination was performed using the standard logarithmic visual acuity chart, which was converted to logarithm of the minimum angle of resolution (logMAR) visual acuity. OCT angiography (OCTA) and indocyanine green angiography (ICGA) were performed in 4 and 2 eyes, respectively. Three eyes were treated with intravitreal injection of anti-vascular endothelial growth factor (VEGF) combined with local laser photocoagulation. Two eyes were treated with laser photocoagulation alone. The follow-up time was 16.7±19.1 months. During follow-up, relevant examinations were performed with the same equipment and methods as at the initial diagnosis. The multimodal imaging characteristics and treatment response of the affected eyes were observed.Results:The baseline logMAR BCVA was 0.33±0.19 (0.20-0.80). All eyes showed isolated hemangiomatous lesions in the macular fovea with rigid retinal exudation, and 2 adjacent isolated hemangiomatous lesions were observed in 1 eye. FFA and ICGA examination showed that all eyes with macular hemangiomatous lesions showed clear boundary and strong fluorescence in the early stage. No other retinal or choroidal vascular abnormalities were observed. On OCT examination, circular lumen-like structures with strong reflective wall near the fovea were observed in the macular region of all eyes, accompanied by intraretinal cystic lumen. The macular central retinal thickness (CMT) was 326±125 (207-479) μm. In the four eyes examined by OCTA, blood flow signals were observed in the circular lumenoid structures with strong reflective walls adjacent to the fovea. Blood flow signals were observed in the superficial capillary layer (SCP) and deep capillary layer (DCP) of the retina in 3 eyes. SCP showed blood flow signal in 1 eye. In 4 eyes treated with intravitreal injection of anti-VEGF drugs, there was no significant improvement in the intraretinal capsule space after treatment. Subretinal fluid absorption, retinal cystoid edema persisted, and rigid exudation decreased in 1 eye. CMT decreased and BCVA increased in 5 eyes treated with laser photocoagulation or laser photocoagulation alone. At last follow-up, logMAR BCVA was 0.16±0.06 (0.10-0.20) and CMT was 212±34 (154-252) μm. Compared with baseline, the difference of BCVA was statistically significant ( t=2.661, P=0.037). Conclusions:The fundus of PEVAC patients is characterized by solitary or multiple solitary hemangiomatous lesions in the macular fovea. Round lumenoid structures with strong reflective walls, with or without intraretinal cystic lumen, rigid exudate, and subretinal fluid, in which blood flow signals can be seen in OCT.

Objective To explore the expression and clinical significance of sodium borate transporter member 11 of solute carrier family 4 (SLC4A11) and tumor protein P53 (TP53) proteins in gastric cancer (GC).Methods From March 2004 to December 2009,a total of 415 patients with GC,who received operation at Department of General Surgery of Affiliated Hospital of Nantong University,were enrolled.The clinical data and gastric tissues samples of them were collected.At same period,64 patients with non-malignant gastric diseases,who underwent surgery at Department of General Surgery of Affiliated Hospital of Nantong University,were also recruited.The clinical data and gastric precancerous tissues were also collected.The tissues were maken into tissue microarray (TMA).The expression of SLC4A11 and TP53 protein in tissue microarrays was detected by immunohistochemical staining.The relationship between the two proteins and clinicopathological parameters and prognosis of patients were analyzed.Chi square test,and univariate and multivariate analyses were used for statistical analysis.Results The positive rates of protein expression of SLC4A11 and TP53 in GC tissues were 48.19％ (200/415) and 34.94％ (145/415),respectively,which were higher than 17.19％ (11/64) and 6.25％ (4/64) in gastric precancerous lesions,respectively,and the differences were statistically significant (x2 =24.150 and 59.345;both P＜0.01).The results of statistical analysis showed that the expression of SLC4A11 was correlated with human epidermal growth factor receptor 2(Her2) levels,depth of invasion,distant metastasis and TNM staging (x2 =28.056,11.300,8.880,24.943;all P＜0.05).Meanwhile,the expression of TP53 was related with depth of invasion,lymph node metastasis,distant metastasis,TNM staging and preoperative carcinoembryonic antigen (CEA;x2=12.333,7.875,9.347,20.307,10.678;all P＜0.05).The expression of TP53 was significantly positive correlated with SLC4A11 expression (x2 =6.237,P=0.013).The results of univariate analysis showed that SLC4A11,TP53,SLC4A11+/TP53+,Her2,preoperative CEA and cancer antigen 19-9 (CA19-9) levels were correlated with the poor prognosis of GC patients (hazard ratio (HR)=1.947,1.459,1.797,1.419,2.221,1.908;all P＜0.05),while the results of multivariate analysis indicated that positive SLC4A11 and TNM staging were the independent parameters for judging the prognosis of patients with GC (HR =1.954,1.468,both P＜0.05).Conclusions The high expression of SLC4A11 and TP53 is related to the occurrence and development of GC.Combined detection of their changes will contribute to the early diagnosis and prognostic evaluation of patients with GC.

Purpose To investigate the feasibility of texture analysis of breast contrastenhanced magnetic resonance imaging in differentiating non-puerperal mastitis and breast carcinoma with non-mass-like enhancement in order to prevent misdiagnosis of nonpuerperal mastitis.Materials and Methods In this retrospective study,the contrastenhanced MRI images of 42 female patients of invasive ductal carcinoma with non-masslike enhancement and 30 female patients of non-puerperal mastitis were analyzed.3234 texture features were generated from manually selected region of interest (ROI) of normal breast tissue and breast lesions.By means of genetic algorithm and linear discriminative analysis,10 texture features were selected based on their stability and accuracy in breast tissue classification.Results With these 10 features,the linear discriminative analysis classifiers had sensitivity of 92.9％ and specificity of 90.0％ in classifying two lesions,and accuracy of 89.6％ in classifying all three types of tissue.The result showed that texture analysis successfully differentiate non-puerperal mastitis and breast carcinoma with nonmass-like enhancement.Conclusion Texture analysis demonstrates the ability of differentiating invasive ductal carcinoma with non-mass-like enhancement,non-puerperal mastitis and normal breast tissue,and provides reliable results for clinical diagnosis.