Objective To evaluate the probability of siblings identification in Identifiler system by using the software of automatic analysis.Methods Using the software of automatic analysis in siblings jdentification.STP genetic typing of 151 pairs of full siblings and 31224 pairs of unrelated individuals from manual simulation were analyzed in 15 STR loci of ldentifiler system.Results Kin probability(W_(FS))of 39.07% full siblings were more than 99.999% while W_(FS) of unrelated individual pairs were 0% .W_(FS) of 60.93% full siblings and 21.3% unrelated individual pairs were all at the range from 99.999% to 1% .W_(FS) of 78.7% unrelated individual pairs 0% full siblings individuals were less than 1% .Therefore,there were notability difference between full siblings and unrelated individual pairs.In addition,testing of 15 STR loci of Identifiler system,it suggested that the pair were siblings when the locus number of the entirely-same is not less than 5 or that of the entirely-different is not more than 1,and that the pair were unrelated individuals when the locus number of the entirely-different is not less than 6 or that of the entirely-8alne is not more than 1.Conclusion The software of automatic analysis and the Identifiler system call be used to siblings identification.

Objective:To analyze the electrocardiographic characteristics of patients with chronic pulmonary artery stenosis (PAS), and to explore their relationship with disease severity indicators.Methods:The study was a retrospective case-series analysis. Patients with chronic PAS admitted to Gansu Provincial Hospital from January 2018 to July 2021 were enrolled. The clinical data and the results of electrocardiography, transthoracic echocardiography, right cardiac catheterization, N-terminal B-type natriuretic peptide (NT-proBNP) measurement and 6-min walking distance test of patients were analyzed. The linear regression model or logistic regression model was used to analyze the relationship between electrocardiographic characteristics and the disease severity in patients with chronic PAS.Results:Sixty-three patients aged (62.1±9.7) years including 43 females (68.3%) were enrolled in the study. Among them, 62 patients (98.4%) had (R 1+S Ⅲ)-(S Ⅰ+R Ⅲ)<1.5 mV, and no patients had V 5lead R: S ratio to V 1 lead R: S<0.04 and V 6 lead R: S ratio<0.4. There were 55 patients (87.3%), with flat or inverted T-waves in V 1, and 10 patients (15.9%) with flat or inverted T-waves in all precordial leads (V 1-V 6). There were 18 patients (28.6%) with flat or inverted T-waves in inferior leads (Ⅱ, Ⅲ, aVF). Multiple liner regression analysis showed that Max R V1, 2+Max S I, aVL-S V1 combined with the number of flat or inverted T-waves in limb leads was independently correlated with atrial area ( R2=0.290, P=0.002); R V1+S V5 was independently correlated with right ventricular area ( R2=0.257, P=0.001); R peak V 1 combined with the number of flat or inverted T waves in precordial leads was independently correlated with tricuspid annular plane systolic excursion ( R2=0.407, P<0.001); (R 1+S Ⅲ)-(S Ⅰ+R Ⅲ) combined with the number of flat or inverted T waves in precordial leads was independently correlated with NT-proBNP ( R2=0.504, P<0.001); Max R V1, 2+Max S I, aVL-S V1 were independently correlated with right atrial pressure ( R2=0.803, P=0.036); (R 1+S Ⅲ)-(S Ⅰ+R Ⅲ) were independently correlated with mean pulmonary artery pressure ( R2=0.302, P<0.001); R aVRcombined with the number of flat or inverted T-waves in precordial leads was independently correlated with cardiac index ( R2=0.173, P=0.003); (R 1+S Ⅲ)-(S Ⅰ+R Ⅲ) was independently correlated with pulmonary vascular resistance ( R2=0.173, P=0.002); R peak V 1 combined with the number of flat or inverted T-waves in precordial leads was independently correlated with mixed vein oxygen saturation ( R2=0.302, P<0.001). Conclusion:The vast majority of patients with chronic PAS have (R 1+S Ⅲ)-(S Ⅰ+R Ⅲ)<1.5 mV and flat or inverted T-wave in V 1 lead, and some characteristic electrocardiographic manifestations are correlated with indicators of disease severity.

Objective:To investigate the clinical, genetic, and clonality related aspects of individuals with Richter transformation (RT) .Methods:From January 2019 to December 2021, 18 RT patients with diagnoses at the First Affiliated Hospital of Nanjing Medical University (Pukou CLL center) were retrospectively examined. The immunoglobin heavy variable (IGHV) gene usage and IGHV-D-J rearrangement pattern of diagnosed CLL/SLL and transformed diffuse large B-cell lymphoma (DLBCL) were compared to determine the clonality relatedness. To investigate the risk factors of RT, Clinical and laboratory data from patients with newly diagnosed CLL/SLL and transformed DLBCL were gathered.Results:The median age of RT was 56.5 (41-75) years old. 17 patients transformed to DLBCL and 1 transformed to Hodgkin lymphoma (HL) . Of 17 individuals who had DLBCL transformation, 15 had CLL/SLL-related clonality and 2 had unrelated clonality. Next-generation sequencing (NGS) analysis of 11 paired initially diagnosed treatment-naive CLL/SLL and RT DLBCL found that EGR2、TP53 and NOTCH1 were among the most frequently mutated genes both in treatment-naive CLL/SLL and in RT DLBCL. In several cases, specific mutations were gained or lost throughout RT, indicating clonal evolution. Among 10 patients before exposure to BTK inhibitors before RT, four patients acquired BTK mutation. The aforementioned mutations should be considered high-risk variables for transformation; in addition, TP53 and EGR2 mutations could be linked to a poor prognosis following RT in patients receiving a cocktail of new medicines.Conclusion:Most RT DLBCL patients in our center are clonality related (15/17, 88.2% ) and we recommend all qualified centers to evaluate clonality relatedness of RT DLBCL patients. There was some variability in the mutational landscape between DLBCL that had undergone a transformation and initially diagnosed, treatment-naive CLL/SLL. The underlying molecular mechanism of RT needs more research.