One case of 46, XY partial gonadal dysgenesis due to a congenital defect of DEAH-box RNA helicase 37(DHX37) was reported. The clinical and genetic data of a boy who was admitted to the Department of Endocrinology and Metabolism, the First Affiliated Hospital of Henan University of Science and Technology due to ambiguous external genitalia in September 2020 were collected and analyzed. This 3-month-old male patient showed a micropenis, bilateral cryptorchidism, 46, XY karyotype, a decrease in testosterone, anti-Müllerian hormone, inhibin B, an increase in follicle stimulating hormone. Testis biopsy indicated gonadal dysgenesis. The proband harbored a de novo heterozygous mutation in the DHX37 gene c. 923G>A(p.Arg308Gln). DHX37 variants need to be considered for 46, XY gonadal dysgenesis.

Objective:To investigate the level of rumination and its influential factors among Chinese psychiatry nurses who go through work place violence.Methods:In this study, 150 psychiatry nurses were recruited from Affiliated Brain Hospital of Guangzhou Medical University (specialize in psychiatry), via the combination of convenient sampling and snowball sampling. Chinese Event-related Rumination Inventory (C-ERRI) was applied in the survey.Results:The total score of C-ERRI was (22.11±9.62) points, and the scores of intrusive rumination subscale and deliberate rumination subscale were (12.99±5.58) and (9.12±6.01) points, respectively. Multiple Linear Regression Analysis show that assault frequency in recent year ( B=-3.195, P<0.01) and whether got injury in the recent assault ( B=8.591, P<0.01) were predictors of deliberate rumination, which account for 26.8% variance of the equation. Gender (male) ( B=-2.415, P<0.01), Injury frequency in recent year ( B=2.864, P<0.01) and whether got injury in the recent assault ( B=8.949, P<0.01) were predictors of intrusive rumination. They account for 36.0% variance of the equation. Conclusion:In this study, the level of rumination among Chinese psychiatry nurses was low. Their rumination style was deliberate rumination.

Objective To compare the effects of bilateral and non- bilateral frontal pneumocephalus on acute agitation after craniotomy for brain tumor. Methods The clinical data of 406 brain tumor patients who had underwent craniotomy in Maoming Traditional Chinese Medicine Hospital and Guangdong Provincial People′s Hospital from January 2014 to January 2019 were retrospectively analyzed. The patients were divided into bilateral frontal pneumocephalus group (92 cases) and unilateral frontal pneumocephalus group (314 cases) according to frontal pneumocephalus within 12 hours after operation. Within 24 hours after operation, the sedation-agitation scale (SAS) was evaluated, and SAS≥ 5 scores was defined as acute agitation. Results The incidence of postoperative acute agitation, rate of postoperative sedatives use and postoperative hospital stay in bilateral frontal pneumocephalus group were significantly higher than those in unilateral frontal pneumocephalus group: 23.9% (22/92) vs. 8.6% (27/314), 14.1% (13/92) vs. 3.5% (11/314) and (12.2 ± 2.6) d vs. (8.5 ± 1.6) d, and there were statistical differences (P＜0.01 or ＜0.05). Conclusions Brain tumor patients who had bilateral frontal pneumocephalus after craniotomy are more likely to develop acute agitation.

Objective: This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease. Methods: Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed. Results: There were 4 females and 1 male, with low calcium, high phosphorus and high PTH serum concentrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) detection while gene sequencing result was negative. Conclusion MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.

Objective To investigate the role of diffusion kurtosis imaging (DKI) in indeterminate solitary pulmonary nodules (SPN) diagnosis and to compare with conventional diffusion weighted imaging (DWI). Methods From March 2016 to Dec 2017, forty-three consecutive patients (30 male, 13 female, age: 56 ± 11 years) with indeterminate SPNs were included. All patients underwent axial multi-b factor DWI (with b values=0, 50, 200, 400, 800, 1400, 2000 s/mm2) examination and were divided into benign group (19 cases) and malignant group (24 cases) according to pathological results of SPN. ADC Kurtosis (K) and Diffusivity (Dk) values were compared between malignant and benign group and among different subtypes of lung cancer using independent t test (normal distribution and homogeneity of variance) and Mann-Whitney U test (skewed distribution or variance). Receiver operating characteristic (ROC) curves were employed to evaluate the diagnostic performance. Results K values were significantly higher for malignant SPNs than for benign SPNs (0.839 ± 0.197 vs. 0.718 ± 0.120;t=2.359, P=0.023). ADC values were found to be significantly higher in benignity than malignant SPNs [(1.605 ± 0.422) × 10-3mm2/s vs. (1.278 ± 0.210) × 10-3mm2/s; t=-3.089, P=0.005). No difference was observed in Dk between the two groups (P=0.922). All parameters cannot differentiate subtypes of lung cancer. The ADC value had higher AUC (area under ROC curve) than that of K value. The sensitivity (70.8％) and accuracy (72.1％) of ADC value was higher than K value, the specificity of both methods was equal. Conclusion DKI is a feasible non-invasive tool which has comparable capability of conventional DWI in SPNs differentiation, although with lower sensitivity and accuracy. DKI can provide additional information for SPNs characterization and has a potential to be a robust way in SPNs interpretation.

Objective In view of the controversy over radiotherapy target volume for patients with limited-stage small cell lung cancer ( SCLC), a prospective randomized controlled trial was conducted to compare the impact of different radiotherapy target volumes on prognosis. Methods After 2 cycles of EP chemotherapy,patients without progressive disease were randomly assigned to receive thoracic radiotherapy (TRT) to either the post-or pre-chemotherapy primary tumour extent as study arm or control. Involved field radiotherapy (IFRT) to the entire metastatic lymph node regions was applied for both arms. TRT consisted of 45 Gy/30Fx/19 d administered concurrently with cycle 3 chemotherapy. Prophylactic cranial irradiation was administered to patients achieved complete or partial remission. Kaplan-Meier method was used for survival analysis. Results Between June 2002 and December 2017,159 and 150 patients were randomly assigned to study arm and control respectively. The 1-,2-,and 5-year local/regional control rates were 79. 4%,61. 5% and 60. 1% respectively in the study arm versus 79. 8%,66. 5%,and 57. 3% in the control arm (P=0. 73). The median OS time was 22. 1 months in the study arm (95%CI,18. 2-26. 0 months) and 26. 9 months (95%CI,23. 5-30. 3 months) in the control arm,the 1-,3-,5-,and 7-year OS rates were 81. 1%,31. 6%, 23. 9% and 22. 2% respectively in the study arm versus 85. 3%,36. 6%,26. 1% and 20. 0% in the control arm (P=0. 51).Grade 2-3 acute esophagitis was developed in 32. 9% and 43. 2% of patients respectively in study arm and control arm (P=0. 01),while grade 2-3 pulmonary fibrosis was observed in 2. 0% and 10. 9% of patients ( P= 0. 01 ) respectively. Conclusions For patients with limited-stage SCLC who received induction chemotherapy,thoracic radiotherapy can be limited to post-chemotherapy tumour extent and IFRT can be routinely applied.

Objective To investigate the MRI findings of duodenal papillary adenocarcinoma(DPA),and to evaluate the importance of diffusion-weighted imaging(DWI)in diagnosis of DPA.Methods A complete data of 52 patients with DPA were prospectively collected.All patients underwent surgery within 72 hours after conventional MRI,DWI and MRCP scans.Before surgery,four different MRI findings were used to calculate the sensitivity,specificity and the probability of correctness.Two experienced radiologists who were blind to the pathologic diagnosis handled the MRI findings.Thirty eight patients were pathologically diagnosed for DPA.Based on the pathological diagnosis,the detection rate of DPA by the MR sequence was recorded and the chi square test was used to do the statistical analysis. Results The accuracy rate in diagnosis of DPA with MRI was 78.8% in our study.The findings of DPA consist of thickening wall of duodenal,duodenal papilla node imaging,DWI showing high signal of duodenal papilla and"beak"sign of dilated bile duct.Corresponding sensitivities were 70.5%,66.7%,86.3% and 87.9%,and specificities were 75.0%,30.0%,50.0% and 63.1% respectively.The incidences of positive on T2WI and T1WI,MRCP,DWI scans were 60.5%,76.3% and 92.1% respectively.The detection rate of each sequence has significant difference(χ2=10.48,P<0.005).Conclusion The MRI manifestations of DPA consist of thickening wall of duodenal,duodenal papilla node imaging,DWI showing high signal of duodenal papilla and"beak"sign of dilated bile duct.The detection rate of DWI sepuence on DPA lesions is significantly higher than that of other sequences.

Objective To observe the clinical effects and safety of sodium valproate combined with decitabine for treatment of myelodysplastic syndrome (MDS). Methods Forty-two patients with MDS were enrolled in department of hematology in Shanxi Dayi Hospital from February 2012 to February 2017. According to random number table, the patients were divided into the control group (21 cases) and the experimental group (21 cases). The patients in the control group received decitabine at the dose of 20 mg·m-2·d-1, and intravenous infusion was completed in 2 hours, continuous therapy up to 5 days, 4 weeks as a course; the patients in the experimental group received combined medication, orally given sodium valproate 0.2 g once, 3 times per day. One week later, the dosage was added to 0.4 g once, 3 times per day. Both groups received at least 4 courses of treatment. The treatment was stopped when serious adverse reactions or obvious disease progression occurred. The bone marrow smear was rechecked every 4 weeks after treatment to evaluate the efficacy. The expressions of ASXL1, DNMT3A and TET2 in bone marrow cells were detected by fluorescence quantitative PCR before and after treatment. Results The total treatment response rate of the experimental group and the control group were 76.2 % (16/21) and 57.1 % (12/21) respectively, and there was statistically significant difference (P< 0.05); the total remission rate of the two groups was 47.6 % (10/21) and 38.1 %(8/21) respectively, and there was no significant difference (P> 0.05). All patients had slight adverse reactions, and the adverse reaction rate was 42.9 % (9/21) and 38.1 % (8/21), and there was no significant difference (P>0.05). The content of TET2 mRNA and DNMT3A mRNA after treatment in both groups were decreased compared with the expressions before treatment, and there were significant differences (P<0.05). However, there was no significant difference between the two groups after treatment (P> 0.05); the content of ASXL1 mRNA had no obvious change in the control group and a dramatic decrease in the experimental group compared with that before treatment (P<0.05). Conclusion Sodium valproate combined with decitabine has favorable effects and mild adverse reactions for treatment of MDS, besides, it can influence the expressions of TET2, DNMT3A and ASXL1.

Objective To investigate the distribution characteristics of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphism in Zhuang populations of Guangxi,and to compare the distribution differences of genotype and allele frequencies of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms among different races.Methods The interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms were detected by SNaPshot SNP genotyping technique on 168 persons in Zhuang populations of Guangxi,frequencies of genotype and allele of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphisms were analyzed in Zhuang populations,and was compared with the other four populations (HapMap-HCB,HapMap-JPT,HapMap-YRI,HapMap-TSI) from HapMap database.Results The most common genotype and allele of interleukin-27 gene rs17855750 G/T polymorphysms were TT(70.2％) and G(50.3％) in Zhuang populations of Guangxi,and the most common genotype and allele of interleukin-27 gene rs40837 G/T polymorphysms were AC(35.7 ％) and C(52.1 ％).There were no significant differences in the genotype and allele frequencies of interleukin-27 gene rs17855750 G/T,rs40837 A/G polymorphysms between male and female gender in Zhuang populations of Guangxi(P＞0.05).The frequencies of allele and genotype distribution of IL-27 gene rs17855750 G/T polymorphisms were not significantly different when compared with HapMap-HCB(P＞0.05),but were significantly different when compared with HapMap-JPT,HapMap-TSI and HapMap-YRI(P＜0.01);The frequencies of allele and genotype distribution of intetleukin-27 gene rs40837 A/G polymorphisms were significantly different when compared with HapMap-HCB(P＜ 0.05),and were significantly different when compared with HapMap-JPT,HapMap-YRI and HapMap-TSI(P＜0.01).Conclusion There are significant differences in the frequencies of allele and genotype distribution of interleukin-27 gene rs17855750 G/T,rs40837 A/G between Zhuang populations and other ethnic populations,and this variation may lead to a variety of clinical manifestation and morbidity of some diseases.

Objective To investigate the effects of triptolide (TP) on proliferation and apoptosis of acute myeloid leukemia cell line MV411 with FMS-like tyrosine kinase 3 internal tandem duplication (FLT3-ITD), and its effect on PI3K-Akt-mTOR pathway. Methods MTT assay was used to detect the proliferation inhibition of MV411 cell proliferation treated by different concentrations of TP in 24, 48 and 72 h. Flow cytometry was used to measure the cell apoptosis rate at 48 and 72 h. Real-time fluorescent quantitative PCR was used to detect the expression of FLT3, PTEN, PI3K, Akt, mTOR mRNA on PI3K-Akt-mTOR pathway. Results After treated by 0, 5, 10, 20, 40, and 80 nmol/L TP in 24, 48 and 72 h, the viability of MV411 cells was inhibited in a time-dose dependence manner. MV411 cells was treated by 0, 10, and 20 nmol/L TP after 48 and 72 h, the cell apoptosis rates were rising with the increasing of drug concentration, there were statistical significances [48 h:(3.30±0.20) %, (17.10±0.36) %, (35.67±0.61) %, 72 h: (7.37±0.32) %, (49.33± 0.40)%, (68.92±0.11)%, all P=0.000]. The expressions of FLT3, PI3K, Akt, and mTOR mRNA were down-regulated and PTEN mRNA expression was up-regulated by TP. Conclusion TP may inhibit the proliferation and induce apoptosis of MV411 cells by affecting the expression of PI3K-Akt-mTOR pathway related genes.