1.Clinical and genetic analysis of 46, XY partial gonadal dysgenesis caused by DHX37 mutation: One case report and literature review
Haibo LU ; Huifang PENG ; Jinshuang GAO ; Yujin MA ; Liping LI ; Ying WANG ; Hongwei JIANG
Chinese Journal of Endocrinology and Metabolism 2022;38(3):249-252
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.
2.Investigation of rumination level and its influential factors among psychiatry nurses who go through work place violence
Hongxing LI ; Jiawei HUANG ; Yongmei ZHOU ; Jiankui LIN ; Xiaodan LU ; Yujin HU ; Guofen CHEN ; Shiyuan KUANG
Chinese Journal of Practical Nursing 2021;37(3):161-167
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.
3. Clinical and gene methylation analysis of type 1b pseudohypoparathyroidism
Yujin MA ; Peng LIU ; Yuan YUAN ; Haibo LU ; Wenbo ZHANG ; Liujun FU ; Liping LI ; Jie LIU ; Yingyu ZHANG ; Huifang PENG ; Hongwei JIANG
Chinese Journal of Endocrinology and Metabolism 2019;35(12):1001-1005
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.
4.Diagnostic value of diffusion kurtosis imaging in differentiating indeterminate solitary pulmonary nodules:comparison with diffusion weighted imaging
Shuchang ZHOU ; Yujin WANG ; Lu HUANG ; Tingting ZHU ; Tao AI ; Wei WU ; Qiongjie HU ; Liming XIA
Chinese Journal of Radiology 2019;53(3):200-204
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.
5.Comparison of the effects of bilateral and non-bilateral frontal pneumocephalus on acute agitation after craniotomy for brain tumor
Shiquan LI ; Dong ZHOU ; Zhihui LU ; Shuisheng RONG ; Yujin KE
Chinese Journal of Postgraduates of Medicine 2019;42(7):639-642
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.
6.The diagnosis value of DWI in duodenal papillary adenocarcinoma
Feng WEN ; Xiaobin TANG ; Yujiang DING ; Yan LU ; Shengjia WANG ; Yujin XIA ; Haijing SUI ; Zhenguo ZHAO
Journal of Practical Radiology 2018;34(2):222-225
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.
7.Final report of a prospective randomized study on thoracic radiotherapy target volumes for limited-stage small cell lung cancer
Xiao HU ; Yong BAO ; Yujin XU ; Li ZHANG ; Jin WANG ; Honglian MA ; Ying JIN ; Xiaoling XU ; Zhengbo SONG ; Fang PENG ; Huarong TANG ; Min FANG ; Yue KONG ; Mengyuan CHEN ; Baiqiang DONG ; Xinmin YU ; Hongyang LU ; Yiping ZHANG ; Yun FAN ; Ming CHEN
Chinese Journal of Radiation Oncology 2018;27(12):1046-1050
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.
8.Clinical analysis of sodium valproate combined with decitabine for treatment of myelodysplastic syndrome
Rong GONG ; Shaolong HE ; Zhenhua QIAO ; Tao WANG ; Yujin LU ; Bo BAI ; Sicheng BIAN ; Zhilin GAO ; Qiujuan ZHU ; Liangming MA
Journal of Leukemia & Lymphoma 2017;26(12):743-747
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.
9.Effect of proliferation of triptolide on MV4-11 cells and its mechanism research associated with RAS/ERK/MAPK
Duoping LIU ; Liangming MA ; Yujin LU ; Tao WANG ; Fengli ZHENG ; Weilan YAN
Journal of Chinese Physician 2017;19(6):844-847
Objective To explore the effect of proliferation and apoptosis,and research its mechanism associated with RAS/extracellular signal regulated kinase/mitogen-activated protein kinase (RAS/ ERK/MAPK) in Fms-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) mutation acute lymphocytic leukemia cell line MV4-11 cells treated by triptolide (TP).Methods MV4-11 cells were respectively treated by triptolide with diverse concentrations and different times.The proliferation inhibition rate was measured by methyl thiazolyl tetrazolium,the apoptosis rate was detected by flow cytometry,the mRNA expressions of FLT3,RAS,ERK,forkhead box protein M1 (FOXM1),and c-Myc were analyzed by realtime fluorescent quantitative polymerase chain reaction (PCR).Results The proliferation inhibition rate markedly increased in a dose-time dependent manner after MV4-11 cells were treated by TP.After cells were treated with 10,and 20 nmol/L TP,respectively,the apoptosis rates at 48 h were (17.30 ± 0.56) %,(35.77 ±0.55)%,and those at 72 h were (49.83 ±0.45)%,(68.90 ±0.75)% correspondingly.PCR data showed that the mRNA level of FLT3 mRNA decreased obviously,and that of RAS,ERK,FOXM1,and c-Myc also decreased.Conclusions Triptolide could significantly inhibit the MV4-11 cells proliferation and induce cell apoptosis,and its mechanism might be through inhibiting the expression of related genes on RAS/ERK/MAPK signaling pathway.
10.Regulating Sub-health Along Meridians And Viscera
Yanjing WU ; Tingli NIU ; Yu LU ; Tianyu CHEN ; Lujiao GAO ; Yujin ZHANG ; Yang YANG ; Liangxiao MA ; Xuezhi YANG ; Xin NIU
World Science and Technology-Modernization of Traditional Chinese Medicine 2017;19(10):1675-1679
This study was aimed to observe the clinical effect of low frequency negative pressure meridian viscera regulating sub-health.According to the diagnostic criteria,34 cases of sub healthy subjects were randomly selected.The low frequency negative pressure meridian viscera regulating method was used.By analyzing the cupping spot color feedback conditioning information of the sub healthy subjects and conditioning before and after the synthesis of the four diagnostic methods of digital and quantitative,its effect was evaluated.After 4 weeks of continuous adjustment,34 cases of sub healthy subjects,compared with preconditioning,cupping spot color of the subjects was shallow or disappeared (P < 0.01);after adjusting,the proportion of light red tongue and thin white tongue coating increased obviously (P < 0.05),the proportion of ecchymosis tongue was decreased compared to precoditioning (P < 0.05);after adjustment,core symptoms such as back pain,neck pain,anxiety and irritability,were alleviated or disappeared;after adjustment,the pulse string tightness decreased significantly (P < 0.01).It was concluded that the low frequency negative pressure meridian viscera regulation can significantly improve discomfort symptoms of sub healthy subjects and promote therecovery of tongue,pulse and cupping spot color in sub healthy subjects.This method is worth popularizing and further exploring.

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