A case of arginine vasopressin receptor 2 ( AV PR2 ) mutation in a boy with congenital nephrogenic diabetes insipidus was reported.Genomic DNA of the boy and his family members was extracted.The entire coding region of the AVPR2 gene were amplified by PCR.The amplified products were purified and sequenced.The results were compared with the normal one of the gene bank.The impact of the mutation on AVPR2 structure was discussed with respect to homology structure model.The analysis identified a T to G transition in exon 2 of the AVPR2 gene,resulting in substitution of leucine for arginine at amino acid residue 168.Furthermore,the patient′s mother and sister were heterozygous for this mutation,and the father was normol.

Objective:To investigate the clinical significance of detecting Epstein Barr virus (EBV) infection in evaluating recent curative and long-term effects in patients with extranodal natural killer (NK)/T-cell lymphoma. Methods:The EBV-DNA copies in the plasma of 109 patients, who were pathologically and immunohistochemically diagnosed with extranodal natural killer/T-cell lymphoma in the First Affiliated Hospital of Zhengzhou University between January 2011 and April 2014, were monitored via quantitative re-al-time polymerase chain reaction. Subsequently, the difference in recent curative and long-term effects between EBV positive and EBV negative patients was compared. Results:Among the 109 patients with extranodal NK/T-cell lymphoma, 34 (64.2%) cases of EBV posi-tive patients were at the advanced stage (Ⅲ~Ⅳ stages), and 22 (39.3%) cases of EBV negative patients were at the terminal stage (Ⅲ~Ⅳstages). EBV positive patients who accompanied by B symptoms were 33 (62.3%) , and there were 21 (37.5%) cases with B symptoms in EBV negative patients, the differences between stages and B symptoms were statistically significant. The attained objec-tive response rate of the EBV-DNA negative patients (34, 60.7%) was significantly higher than that of the EBV-DNA positive patients (22, 41.5%) (P<0.05). Similarly, the 2-year progression-free survival (PFS) rate of EBV negative patients was better than that of EBV positive patients (P<0.05). Conclusion:Detecting EBV in plasma has clinical significance in evaluating the recent curative effect and the 2-year PFS rate in patients diagnosed with extranodal NK/T-cell lymphoma.

Background and purpose:Extranodal natural killer/T-cell lymphoma (ENKTL) is a form of non-Hodgkin’s lymphoma. The ENKTL incidence in China is much higher than that in the Western countries. The disease is highly malignant, not sensitive to chemotherapy, has short survival period and poor prognosis. Epstein-Barr virus (EBV) infection has close relationship with the development of the disease. However, there are still a few patients without EBV infection. This study aimed to discuss the clinical features and prognosis of EBV-encoded small RNA (EBER) in situ hybridization negative ENKTL.Methods:From Aug. 2011 to Oct. 2015, 326 cases were diagnosed with ENKTL from the First Affliated Hospital of Zhengzhou University. The expression of EBER was detected by in situ hy-bridization technique. The clinical pathological characteristics and prognosis of EBER-negative patients were analyzed. Results:In 326 patients with ENKTL, the negative rate of EBER was 2.45% (8/326). In 8 EBER-negative patients, the median survival time was 17 months. The log-rank test revealed that there was a signiifcant difference between EBER-negative and EBER-positive curves (χ2=6.407,P=0.011). Multivariate Cox proportional hazards regression analysis showed that in EBER-negative ENKTL, only lactate dehydrogenase (LDH) predicted survival time (P=0.008). EBV-DNA copy number in plasma was not signiifcantly correlated with survival time (P>0.05).Conclusion:The inci-dence of EBER-negative ENKTL is low. Patients with EBER-negative ENKTL have poorer prognosis than EBER-posi-tive patients. Elevated LDH may be a factor indicating poor prognosis.

Objective:To analyze clinical characteristics, treatment, and prognosis of B-cell lymphoma, unclassifiable, with features in-termediate between diffuse large B-cell lymphoma and Burkitt lymphoma (DLBCL/BL). Methods:The clinical and pathological data of 13 DLBCL/BL patients, who were treated in the First Affiliated Hospital of Zhengzhou University between January 2013 and December 2014, were collected. Overall survival (OS) and progression-free survival (PFS) were estimated by the Kaplan-Meier method. Through the log-rank test, survival curves were compared among groups classified by clinical stage, age, serum lactate dehydrogenase (LDH) lev-el, international prognostic index (IPI) score, or first chemotherapy regimen. Results:Among the 13 patients with DLBCL/BL, 12 pa-tients showed extra-nodal involvement. The median OS and PFS were only 10 and 6 months, respectively. Univariate analysis showed that the LDH levels and IPI scores exerted statistically significant effects on prognosis. Some borderline differences in survival were not-ed among the CHOP, CHOP-like, and intensive chemotherapy groups. Conclusion:DLBCL/BL is an aggressive B-cell lymphoma with a short survival time. The majority of patients presented extra-nodal involvement. DLBCL/BL did not respond well to CHOP or CHOP-like regimen, and more intensive chemotherapy may improve survival. Elevated LDH levels and high IPI scores were predictors of poor sur-vival.