Objective To investigate the clonal rearrangement characteristics and clinical application value of IGH gene in B-cell non-Hodgkin's lymphoma(B-NHL).Methods Demographic and clinical data as well as IGH sequencing results of 55 patients with B-NHL who underwent next-generation sequencing(NGS)testing were collected,and IGH gene clonal rearrangement was detected.The characteristics of IGH gene clonal rearrangement,IGHV gene usage,and the clinical application value of NGS for IGH clonal rearrangement were analyzed.Results Among 55 patients with B-NHL and IGH clonal rearrangement,single dominant clones were mainly detected(85.45%,47/55);a few patients had two(12.73%,7/55)and three dominant clones(1.82%,1/55).In terms of preference for IGHV gene usage,IGHV3 gene had the highest frequency of access in B-NHL,followed by IGHV4.Among the IGHV subtypes,IGHV3-23 had the highest frequency in chronic lymphocytic leukemia/small lymphocytic lymphoma,and IGHV4-34 had the highest frequency in primary central nervous system diffuse large B-cell lymphoma and not otherwise specified diffuse large B-cell lymphoma.Conclusion A preference for IGHV gene usage in clonal rearr-angement of IGH genes is noted in B-NHL patients with different pathological types.Using NGS to detect IGHclonal rearrangement can identify subclones and clonal correlations,and assist in disease diagnosis.

OBJECTIVE: To develop a multiplex PCR method for a rapid detection of Y chromosome-specific sequences in patients with Turner syndrome. METHODS: Nine genes were selected from various regions of the Y chromosome for designing the primers, which included SRY, TBL1Y, TSPY on the short arm of the Y chromosome, DDX3Y, HSFY1, RPS4Y2 and CDY1 on the long arm of Y chromosome and SHOX in the short arm and SPRY3 in the long arm of the pseudoautosomal region (PAR) of X and Y chromosomes. A multiplex PCR method for the nine genes in Y chromosome was established and optimized. The sensitivity was tested by using different amounts of genomic DNA. A total of 36 patients with Turner syndrome and a patient with male dwarfism with karyotype of 46, X, +mar were examined by the multiplex PCR method for the existence of materials from the Y chromosome. RESULTS: The optimization results of the multiplex PCR reaction system (50 μL) showed that when the final concentration of upstream and downstream of each pair of primers was 0.1 μM, the multiplex PCR reaction of the 9 pairs of primers clearly amplified the target with the expected band size, and there was no non-specific amplification. The bands were clearly visible when the amount of genomic DNA in the multiple PCR reaction system was as low as 1 ng. By using the method, we have examined the 36 patients with Turner syndrome. One patient with Turner syndrome with karyotype of 45,X[40]/47XYY[21] amplified specific seven genes on Y chromosome, 35 patients with Turner syndrome amplified only two target genes SHOX and SPRY3, but not the other seven specific genes on the Y chromosome, which was in keeping with the clinical manifestations of such patients. CONCLUSION This study established a multiplex PCR reaction system with nine genes, which can quickly and accurately screen Y chromosome materials in patients with Turner syndrome. It has the advantages of low cost, simple operation, high specificity and rapid turn-around time, and can be used to detect Turner syndrome patients with Y chromosome material in time. The method has provided a diagnostic basis for preventive gonad resection to prevent malignant gonadal tumors.
Humans ; Male ; Turner Syndrome/genetics* ; Multiplex Polymerase Chain Reaction ; Y Chromosome ; Karyotyping ; DNA Primers ; DNA ; Chromosomes, Human, Y/genetics* ; Transducin/genetics* ; Minor Histocompatibility Antigens ; DEAD-box RNA Helicases/genetics*

Intractable hypokalemia and hypocalcemia are rare complications in leukemia patients. This article reports a patient with chronic myelomonocytic leukemia (CMML)with refractory hypokalemia, hypocalcemia, hypochloridemia, hypomagnesemia-a 48-year-old man complained of fatigue, nausea, and face numbness for over one month. The number of monocytosis in peripheral blood and bone marrow increased remarkably. At the same time, the patient developed hypokalemia, hypochloridemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, massive proteinuria, and increase in plasma aldosterone and renin. After two coursea of treatment using Azacitidine therapy, complete remission of bone marrow was achieved and the electrolyte disturbance was almost corrected, except hypomagnesemia. We summarize the clinical characteristics of the patient so as to raise the clinical awareness of such cases.

Objective: Empirical findings confirmed that autistic and schizotypal traits are associated with attentional function as well as include various dimensions. So far, no study has reported which dimension of these traits relates to attentional networks. This study aimed to find out whether there are associations between attentional networks and autistic traits; and between attentional networks and schizotypal traits. Methods: A total of 449 volunteers was included in this study, and autism-spectrum quotient (AQ), schizotypal personality questionnaire (SPQ), and attention network test (ANT) were used to measure autistic traits and schizotypal traits. The three independent attentional networks, including alerting network, orienting network, and executive control network, were also measured. Results: Autistic traits were associated with the orienting network, whereas schizotypal traits were associated with the orienting network and executive control network. Furthermore, attentional networks could be predicted by specific dimensions of autistic and schizotypal traits. AQ-attention switching [0.104 (-1.175– -0.025), p=0.041] and AQ-attention to detail [-0.097 (-0.798– -0.001), p=0.049] were significant predictors of orienting network and gender were significant predictor of executive network (Beta=0.107; 95% CI=-0.476–10.139; p=0.031). Whereas, schizotypal dimension “interpersonal” was a significant predictor of all three attentional networks [Alerting: 0.147 (-0.010–0.861), p=0.045; Orienting: 0.147 (0.018–0.733), p=0.040; Executive: 0.198 (0.215–1.309), p=0.006]. Conclusion This study demonstrated that autistic and schizotypal traits were associated with attentional networks. The specific dimensions of autistic and schizotypal traits could predict attentional networks. Nevertheless, the attentional networks predicted with these two traits were different.

Objective: Empirical findings confirmed that autistic and schizotypal traits are associated with attentional function as well as include various dimensions. So far, no study has reported which dimension of these traits relates to attentional networks. This study aimed to find out whether there are associations between attentional networks and autistic traits; and between attentional networks and schizotypal traits. Methods: A total of 449 volunteers was included in this study, and autism-spectrum quotient (AQ), schizotypal personality questionnaire (SPQ), and attention network test (ANT) were used to measure autistic traits and schizotypal traits. The three independent attentional networks, including alerting network, orienting network, and executive control network, were also measured. Results: Autistic traits were associated with the orienting network, whereas schizotypal traits were associated with the orienting network and executive control network. Furthermore, attentional networks could be predicted by specific dimensions of autistic and schizotypal traits. AQ-attention switching [0.104 (-1.175– -0.025), p=0.041] and AQ-attention to detail [-0.097 (-0.798– -0.001), p=0.049] were significant predictors of orienting network and gender were significant predictor of executive network (Beta=0.107; 95% CI=-0.476–10.139; p=0.031). Whereas, schizotypal dimension “interpersonal” was a significant predictor of all three attentional networks [Alerting: 0.147 (-0.010–0.861), p=0.045; Orienting: 0.147 (0.018–0.733), p=0.040; Executive: 0.198 (0.215–1.309), p=0.006]. Conclusion This study demonstrated that autistic and schizotypal traits were associated with attentional networks. The specific dimensions of autistic and schizotypal traits could predict attentional networks. Nevertheless, the attentional networks predicted with these two traits were different.

Objective: To investigate the clinical features, treatment and prognosis of the children with malignancy-associated hemophagocytic syndrome (MAHS) in Beijing in recent decade. Methods: The clinical data of the patients with MAHS under 18 years old from July 2007 to February 2018 collected by the Society of Beijing hemophagocytic syndrome were analyzed retrospectively. Results: There were 46 patients under 18 years old with MAHS in all(male 27, female 19). The patients with MAHS took up 8.9% of the patients with hemophagocytic lymphohistiocytosis (HLH)(46/519 cases) from the area during that period.The median age of onset had 13.5 years (0.9-18.0 years). Thirty-five patients had lymphoma (76.0%), 9 cases had leukemia (19.6%), 1 case had myelodysplastic syndrome with refractory anemia with excess blast(RAEB-T), and 1 case had Epstein-Barr virus(EBV) associated lymphoproliferative disease (borderline tumor stage). All the patients had a fever.A half of them suffered from hepatosplenomegaly and 7 patients(15.2%) had neurological symptoms.The common laboratory abnormalities included cytopenias, hemophagocytosis in bone marrow (81.8%, 36/44 cases), elevated serum ferritin (87.8%, 36/41 cases), and elevated sCD₂₅ (100.0%, 15/15 cases), decreased nature killer(NK) activity (61.1%, 11/18 cases), and plasma EBV-DNA positive (57.9%). Four patients did not receive treatment, the rest were treated by several chemotherapy protocols including the HLH-94/2004 protocol.Five patients (10.8%) received the allogeneic hematopoietic stem cell transplantation, and 1 case received the splenectomy therapy.The mortality was 58.7%.Four heterozygous mutations of SH2D1A, UNC13D and PRF1 genes were found in 2 patients. Conclusions MAHS in children progresses rapidly, with poor prognosis, and it is often complicated with EBV infection.The children with MAHS may develop genetic defects similar to primary hemophagocytic syndrome.Nowadays, there is no standard treatment for MAHS, so the individualized treatment is to be explored.

Objective Based on the data of scientific research output in a top three hospital in Beijing from 2015 and 2016,stochastic frontier analysis is conducted to estimate the efficiency of scientific research performance in different departments of this hospital,so as to draw the impetus for the growth of departments.Methods According to the results of the stochastic frontier model,comprehensive analysis and evaluation are conducted for the research performance of various departments.Results The overall average technical efficiency of the hospital is 0.44,and improvement space for the technical efficiency of scientific research performance is still 0.56.There are significant differences in the technical efficiency of each department.Among the four major categories,the D section is higher than the technical efficiency of class A,B and C departments.Conclusions The overall technical efficiency of the hospital is not high,the level of scientific research output of the four types of departments is not balanced,which should be emphasized in the improvement of scientific research performance level.

Objective Discussion on the methods of retrospectively selecting peer review experts based on the results of review.Methods Based on the review data of peer reviewers,peer review experts are retrospectively selected based on the voting,rating and comprehensive evaluations,as well as their variations and errors during the review.Results Through the retrospective selection of peer reviewers,there is a better convergence of reviews,which assures the quality of future peer reviews.This method is superior to the prospective selection of peer reviewers.Conclusions Based on the results of the review,retrospective selection of peer review experts is feasible and helpful for the selection of high-level peer review experts,which can improve the quality of peer review and standardize peer review.

Objective To study the dynamic changes of scientific research efficiency of 51 departments in a top three hospitals in Beijing from 2014 to 2016,and to provide reference information for improving the efficiency of scientific research in hospital departments.Methods The CCC model of DEA,BCC model were used for lateral analysis,and then Malmquist index was used for longitudinal analysis.Results There were 12 (23.53％) departments in 2014,11 (21.57％) departments in 2015,9 (17.65％) departments in 2016 data envelopment analysis was valid,from 2014 to 2016,41 (80.39％) departments of the hospital increased the total factor productivity.Conclusions The total factor productivity of the 51 departments in the hospital increased from 2014 to 2016,and technological progress was the main reason for its growth.

Objective Based on the three years' peer review data of a project fund,the results of fund peer review were analyzed and evaluated,to provide references for further improvement of the peer review and management.Methods Based on the fund's peer review results of 2145 projects in three years,descriptive statistics,single-item identification index were adopted,as well as RJ normality test,t-test and other statistical methods,to analyze and assess the overall data of fund,project categories,individual scores,etc.Results The score distribution of the three year peer review project of the fund is almost normal distribution,and the overall consistency of peer review shows a better trend.The analysis shows that the peer review experts of the fund have better consistency in terms of project innovation,rationality and characteristics.While there were differences in the peer review of applicability.Conclusions The three year peer review data of the fund show that three years' evaluation results are reliable,reasonable,and the quality of evaluation is good,showing a better development trend in both project quality and expert consistency.