1.Association of KCNJ5 gene missense mutations with aldosterone-producing adenoma and primary hyperaldosteronism
Dan SHAO ; Nanfang LI ; Yanrong HU ; Hai YANG ; Ling ZHOU ; Na LIN
Chinese Journal of Endocrinology and Metabolism 2013;29(10):862-866
Objective This study is about to detect the KCNJ5 gene variations in aldosterone-producing adenoma (APA) with primary hyperaldosteronism (PA),and to investigate the association of the KCNJ5 gene missense mutations with APA and PA.Methods A total of 46 APA tumors and their clinical characteristics were collected from Hypertension Center of the People's Hospital of Xinjiang Uygur Autonomous Region,and all the tumors were confirmed by pathology.All the samples of the coding region segments of KCNJ5 were detected by PCR and direct DNA sequencing to compare the different missense mutations in the tumor cells and peripheral blood cells and to analyze the association between the genotype and phenotype.Results Three missense mutations were found in 46 patients with APA:c.451G > C/A (p.G151R) (5/46),c.503T > G (p.L168R) (4/46),c.830T > A (p.S209T) (12/46).S209T,as an unreported somatic mutation was observed.There were no missense mutations detected in the peripheral blood.Sex,age,systolic blood pressure,diastolic blood pressure,duration of hypertension,plasma potassium,urine potassium,aldosterone,plasma renin activity,aldosterone,and plasma renin activity ratio,as well as the rate of positive family history were compared between the mutants and wild-types.Systolic blood pressure and plasma potassium level among G151 R,L168R,and S209T had statistical differences.Systolic blood pressure in G151R was significantly higher than the other two groups,while the plasma potassium level was significantly lower than the other groups.Conclusions Three missense mutations were found in 46 patients with APA.The subjects with mutations had more serious condition than those without mutations after comparing their clinical phenotype.Besides,other different subtypes may exist in PA.
2.Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease.
Xiao-li LI ; Zhen-hui PENG ; Sheng-xiang XIAO ; Yan LIU ; Min PAN ; Shao-na ZHOU
Chinese Journal of Medical Genetics 2008;25(1):63-65
OBJECTIVETo investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).
METHODSGenomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD.
RESULTSThree mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.
CONCLUSIONAll the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.
Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Calcium-Transporting ATPases ; genetics ; Case-Control Studies ; Codon, Nonsense ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Mutation, Missense ; Pedigree ; Pemphigus, Benign Familial ; genetics ; Sequence Alignment ; Sequence Deletion
3.Effects of music therapy on depression and duration of hospital stay of breast cancer patients after radical mastectomy.
Kai-na ZHOU ; Xiao-mei LI ; Hong YAN ; Shao-nong DANG ; Duo-lao WANG
Chinese Medical Journal 2011;124(15):2321-2327
BACKGROUNDBreast cancer remains the most important cancer among women worldwide. The disease itself and treatment may have a profound impact on the patients' psychological well being and quality of life. Depression is common in breast cancer patients and affects the therapeutic effects as well as prolongs the duration of hospital stay. However, few studies reported the effectiveness of music therapy on depression and duration of hospital stay of female patients with breast cancer after radical mastectomy.
METHODSOne hundred and twenty subjects were recruited to this clinical trial and randomly allocated to two groups. The experimental group (n = 60) received music therapy on the basis of routine nursing care, whereas the control group (n = 60) only received the routine nursing care. The whole intervention time was from the first day after radical mastectomy to the third time of admission to hospital for chemotherapy. Data of demographic characteristics and depression were collected by using the General Questionnaire and Chinese version of Zung Self-rating Depression Scale (ZSDS) respectively. One pre-test (the day before radical mastectomy) and three post-tests (the day before discharge from hospital, the second and third admission to hospital for chemotherapy) were utilized. Duration of hospital stay was calculated from the first day after radical mastectomy to the day of discharged from hospital.
RESULTSThe mean depression score of all subjects was 37.19 ± 6.30. Thirty-six cases (30%) suffered from depression symptoms, with 26 (72.2%) mild depression cases, 9 (25.0%) moderate depression cases, and 1 (2.8%) severe depression case. After music therapy, depression scores of the experimental group were lower than that of the control group in the three post-tests, with significant differences (F = 39.13, P < 0.001; F = 82.09, P < 0.001). Duration of hospital stay after radical mastectomy of the experimental group ((13.62 ± 2.04) days) was shorter than that of the control group ((15.53 ± 2.75) days) with significant difference (t = -4.34, P < 0.001).
CONCLUSIONSMusic therapy has positive effects on improving depression of female patients with breast cancer, and duration of hospital stay after radical mastectomy can be reduced. It is worthy of applying music therapy as an alternative way of nursing intervention in clinical nursing process of caring female patients with breast cancer.
Adult ; Aged ; Breast Neoplasms ; surgery ; Depression ; therapy ; Female ; Humans ; Mastectomy, Radical ; psychology ; Middle Aged ; Music Therapy ; methods
4.Research on construction and biological characteristics of Actinobacillus pleuropneumoniae apxIIC mutant strain lacking drug resistance marker.
Wei-Cheng BEI ; Qi-Gai HE ; Liu-Rong FANG ; Shao-Bo XIAO ; Li-Na LIU ; Wen-Zhou HONG ; Zheng-Fei LIU ; Huan-Chun CHEN
Chinese Journal of Biotechnology 2004;20(5):719-724
5.Molecular characteristics and antibiotic resistance of Vibrio cholerae O139 in Shandong province.
Yuqi YUAN ; Hui LYU ; Haijian ZHOU ; Zhigang CUI ; Na SUN ; Bing GUAN ; Kun SHAO ; Zhenwang BI ; Biao KAN ; Zhenqiang BI
Chinese Journal of Preventive Medicine 2014;48(6):456-460
OBJECTIVETo investigate the molecular epidemiological characteristics and antibiotic resistance profiles of Vibrio cholerae O139 in Shandong province.
METHODSA total of 13 strains of V. cholerae O139 (9 clinical strains and 4 environmental strains) isolated from cholera epidemics in Shandong province since 1997 were recovered and confirmed with serum agglutination and biochemical reaction. Pulsed-field gel electrophoresis (PFGE) was carried out for molecular subtyping. Virulence genes and drug resistance related genes were detected by PCR. Antibiotic susceptibility tests were performed using micro-broth dilution method.
RESULTSThirteen strains of V. cholerae O139 were differentiated into seven pulsetypes. One clinical strain and two environmental strains isolated from Jining in 2013 were clustered into the pulsetype namely KZGN11O139. CN0077, and an identical PFGE pattern of KZGN11O139. CN0002 was found among three clinical strains from Jinan in 2005, Jining in 2005 and Heze in 2009. Other pulsotypes were unique in China and found only in Shandong province. Because of deletion of ctxAB and tcpI, the PFGE patterns of two strains isolated from Yantai in 2000 and 2004 were different from other 11 strains which harbored ctxAB, tcpA, tcpI, rtxA, hlyA and toxR. All strains contained one or more drug resistance related genes such as intI 1, intI 4 and sxt, and were resistant to two kinds of antibiotics at least. Among the 12 kinds of antibiotics, the resistant ratioes to kamamycin, trimethoprim-sulfamethoxazole, ampicillin and gentamicin were 11/13, 9/13, 7/13 and 7/13, respectively.
CONCLUSIONMolecular subtyping indicates possible epidemiological links among V.cholerae O139 in Shandong province, and almost all strains were toxigenic and drug resistant.
China ; Cholera ; Cholera Toxin ; Drug Resistance, Bacterial ; Electrophoresis, Gel, Pulsed-Field ; Epidemics ; Humans ; Molecular Epidemiology ; Polymerase Chain Reaction ; Vibrio cholerae O139 ; Virulence
6.Synergistic effects of acitretin and narrow-band ultraviolet-B in inducing retinoic acid receptor gamma mRNA expression in normal human keratinocytes.
Su-ju LUO ; Zhen-hui PENG ; Yan ZHENG ; Hao-xiang XU ; Shao-na ZHOU ; Xiao-li LI ; Guo-rong WANG
Journal of Southern Medical University 2007;27(11):1631-1634
OBJECTIVETo investigate the changes in cell proliferation and retinoic acid receptor gamma (RARgamma) mRNA expression in normal human keratinocytes after acitretin treatment and/or narrow-band ultraviolet-B irradiation.
METHODSNormal human keratinocytes were exposed to irradiation with 100 mJ/cm square NB-UVB and/or subsequent 12-hour incubation with 1x10(-6) mol/L acitretin, and the expression of RARgamma mRNA in the cells was examined using RT-PCR and real-time quantitative RT-PCR.
RESULTSA 0.9- and a 2.3-fold increase in RARgamma mRNA expression was induced in the cells by exposure to 100 mJ/cm square NB-UVB and 10(-6) mol/L acitretin, respectively, and the expression was synergistically enhanced by 2.8-fold after their combined treatment.
CONCLUSIONUpregulated expression of RARgamma mRNA can be associated with keratinocyte growth inhibition after treatment with acitretin and NB-UVB irradiation.
Acitretin ; pharmacology ; Cells, Cultured ; Humans ; Keratinocytes ; drug effects ; radiation effects ; RNA, Messenger ; metabolism ; Receptors, Retinoic Acid ; metabolism ; Ultraviolet Rays
7.Follicular dendritic cell sarcoma: a clinicopathologic analysis of ten cases.
Wei-hua YIN ; Guang-yin YU ; Ya MA ; Hui-lan RAO ; Su-xia LIN ; Chun-kui SHAO ; Qiong LIANG ; Na GUO ; Guo-qin CHEN ; Wei ZHOU ; Tong ZHAO ; Mei-gang ZHU
Chinese Journal of Pathology 2010;39(8):522-527
OBJECTIVETo study the clinicopathologic features of follicular dendritic cell sarcoma (FDCS) and its differential diagnosis.
METHODSTen cases of FDCS were studied by light microscopy, immunohistochemistry and in-situ hybridization. The clinical features and follow-up information were analyzed.
RESULTSAmongst the 10 cases of FDCS studied, the male-to-female ratio was 1:1. The mean age of the patients was 42 years. Six of them were located in cervical and peritoneal lymph nodes and four in extranodal sites (including tonsil, pelvic cavity, tail of pancreas and spleen). Histologically, the tumor cells had whorled, storiform or diffuse growth patterns. They were spindle in shape and contained syncytial eosinophilic cytoplasm, with round or oval nuclei, vesicular chromatin, distinct nucleoli and a variable number of mitotic figures. Multinucleated tumor giant cells and intranuclear pseudoinclusions were occasionally seen. There was a sprinkling of small lymphocytes and neutrophils within the tumor as well as in the perivascular region. Immunohistochemical study showed that the tumor cells were diffusely or focally positive for CD21, CD23, CD35 and D2-40, but negative for LCA, CD20, CD3, CD1a, HMB45 and CK. Some of them showed EMA, CD68 and S-100 reactivity. In-situ hybridization for Epstein-Barr virus-encoded RNA (EBER) showed positive signals in only one case (which was diagnosed as inflammatory pseudotumor-like FDCS). Of the 7 patients with follow-up information available (duration: 2 months to 39 months; mean: 14 months), 2 cases with paraneoplastic pemphigus died of pulmonary infection at 5 and 7 months respectively. The remaining 5 patients were alive and disease-free after surgical excision (+/- chemotherapy and radiotherapy).
CONCLUSIONSFDCS is a rare low to intermediate-grade malignant tumor. Appropriate application of FDC markers, such as CD21, CD35 and D2-40, would be helpful for arriving at a correct diagnosis. Most cases are associated with good prognosis after surgical treatment, with or without chemotherapy and radiotherapy. Patients with paraneoplastic pemphigus carry a less favorable prognosis.
Adult ; Antibodies, Monoclonal, Murine-Derived ; metabolism ; Dendritic Cell Sarcoma, Follicular ; complications ; metabolism ; pathology ; surgery ; Dendritic Cell Sarcoma, Interdigitating ; pathology ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Lymph Node Excision ; Lymph Nodes ; pathology ; surgery ; Male ; Meningioma ; pathology ; Middle Aged ; Nasopharyngeal Neoplasms ; pathology ; Paraneoplastic Syndromes ; complications ; Pemphigus ; complications ; Receptors, Complement 3b ; metabolism ; Receptors, Complement 3d ; metabolism ; Receptors, IgE ; metabolism ; Tonsillar Neoplasms ; metabolism ; pathology ; surgery ; Young Adult
8.Expression of FOXM1 in patients with esophageal squamous carcinoma and its clinical significance
Pei-Qin LI ; Shao-Fen YANG ; Ya-Qian WENG ; Chun-Hui ZHOU ; Li-Na YU
Chinese Journal of Clinical and Experimental Pathology 2018;34(6):591-594,600
Purpose Analysis of correlation between FOXM1 gene expression levels and clinicopathological features and prognosis of patients with esophageal squamous cancer (ESC). The effect of down-regulation of FOXM1 expression on the proliferation of human ESC cell line KYSE-30 was also inves-tigated. Methods Quantitative real-time PCR (qRT-PCR) and immunohistochemistry ( IHC) methods were used to detect the expression of FOXM1 in ESC tissues and non-cancer tissues in mRNA and protein level. The expression of FOXM1 was down-regulated by RNA interference (RNAi) technique, and the pro-liferation activity of KYSE-30 cells was detected by CCK-8 as-say. Results Compared with the corresponding non-cancer tis-sues, the expression of FOXM1 was significant higher in ESC tis-sues(P<0. 01). Meanwhile, the expression levels of FOXM1 in poorly differentiated esophageal carcinoma was higher than that in well-differentiated ESC group ( P <0. 01 ). The expression of FOXM1 was significantly correlated with poor tumor differentia-tion (P<0. 001), lymphatic metastasis (P=0. 000), advanced stage (P=0. 004) of ESC patients after surgical resection. High FOXM1 expression was related to shorter overall survival ( OS) (P<0. 001). After down-regulating FOXM1 expression in KYSE-30 cells, cell proliferation rate was inhibited (P<0. 01). Conclusion FOXM1 expression is up-regulated in ESC and is closely related to the degree of differentiation, lymph node me-tastasis, clinical stage and prognosis of ESC. FOXM1 may be participated in regulating the proliferation of human esophageal carcinoma cell line KYSE-30.
9.Effect and Underlying Mechanism of Harmine on Proliferation and Apoptosis of Gastric Cancer Cells
Ting ZHANG ; Shiye JIANG ; Xingxing JIN ; Wenling ZHANG ; Na YU ; Xiaolin LI ; Guoqin ZHU ; Yichan ZHOU ; Yun SHAO ; Weihao SUN
Chinese Journal of Gastroenterology 2018;23(4):221-225
Background:Previous study has found that harmine inhibited the proliferation of gastric cancer cells by down-regulating cyclooxygenase-2(COX-2)expression. However,its molecular mechanism is not fully clear. Aims:To investigate the effect of harmine on proliferation and apoptosis of gastric cancer cells,and explore the role of PTEN/Akt/MDM2 signaling pathway in this process. Methods:Human gastric adenocarcinoma cell line SGC-7901 and MKN-45 were treated with harmine at different concentrations(2,4,8,16,32 μg/mL)for 24,48,and 72 hours. The cell proliferation and apoptosis were detected by MTT assay and Hoechst staining,respectively. The expressions of PTEN,COX-2, phosphorylated Akt(p-Akt)and p-MDM2 were measured by Western blotting. Results:Harmine dose- and time-dependently inhibited proliferation and induced apoptosis of SGC-7901 and MKN-45 cells. Also,harmine dose-dependently increased PTEN expression,and inhibited p-Akt,p-MDM2 and COX-2 expressions in SGC-7901 and MKN-45 cells. Conclusions:Harmine may inhibit proliferation and induce apoptosis of gastric cancer cells via down-regulating COX-2 expression through PTEN/Akt/MDM2 signaling pathway.
10.A nomogram based on CT characteristics for differentiating mass-forming chronic pancreatitis from pancreatic ductal adenocarcinoma patients with chronic pancreatitis history
Hao ZHANG ; Mengmeng ZHU ; Jian ZHOU ; Na LI ; Qi LI ; Yinghao MENG ; Xiaochen FENG ; Chao MA ; Yun BIAN ; Chengwei SHAO
Chinese Journal of Pancreatology 2021;21(6):441-447
Objective:To develop a visualized nomogram with a predictive value to differentiate mass-forming chronic pancreatitis (MFCP) from pancreatic ductal adenocarcinoma (PDAC) patients with chronic pancreatitis (CP) history.Methods:The clinical and radiological data of 5 433 CP patients acoording to the Asia-Pacific Diagnostic Criteria between February 2011 and February 2021 in the First Affiliated Hospital of Naval Medical University were retrospectively analyzed, and 71 PDAC patients with CP history and 67 MFCP who underwent surgery or biopsy and pathologically confirmed were eventually enrolled. The training set included 44 patients with MFCP and 59 patients with PDAC who were diagnosed between February 2011 and April 2018. The validation set consisted of 23 patients with MFCP and 12 patients with PDAC who were diagnosed between May 2018 and February 2021. Univariate and multivariate logistic regression analyses were performed to develop a prediction model for PDAC and MFCP, and the model was visualized as a nomogram. ROC was used to evaluate the predictive efficacy of the nomogram, and the clinical usefulness was judged by decision curve analysis.Results:The univariate analysis showed that a significant association with pancreatic cancer were observed for the duct-to-parenchyma ratio ≥0.34, pancreatic duct cut-off, pancreatic portal hypertension, arterial CT attenuation, portal venous CT attenuation, delayed CT attenuation, and vascular invasion in both the training and validation cohorts, but the duct-penetrating sign in the training cohort only. The multivariable logistic regression analysis showed that statistically significant differences (all P value <0.05) existed in cystic degeneration, a duct-to-parenchyma ratio ≥0.34, the duct-penetrating sign, pancreatic portal hypertension and arterial CT attenuation between the two cohorts. The above parameters were selected for the logistic regression model. The predicted model=3.65-2.59×cystic degeneration+ 1.26×duct-to-parenchyma ratio≥0.34-1.40×duct-penetrating sign+ 1.36×pancreatic portal hypertension-0.05×arterial CT attenuation. Area under the curve, sensitivity, specificity and accuracy of the model-based nomogram were 0.87 (95 CI 0.80-0.94), 89.0%, 75.0% and 83.5% in the training cohort, and 0.94 (95 CI 0.82-0.99), 91.7%, 100% and 97.1% in the validation cohort, respectively. Decision curve analysis showed that when the nomogram differentiated MFCP from PDAC patients with CP history at a rate of 0.05-0.85, the application of the nomogram could benefit the patients. Conclusions:The nomogram based on CT radiological features accurately differentiated MFCP from PDAC patients with CP history and provide reference for guiding the treatment and judging the prognosis.