Objective To analyze mutations in the GJB2 gene in a Chinese patient with keratitis-ichthyosis-deafness (KID)syndrome complicated by cutaneous squamous cell carcinoma. Methods Clinical data were collected from a patient with KID syndrome complicated by cutaneous squamous cell carcinoma. Peripheral blood samples were obtained from the patient and her parents, and DNA was extracted from these blood samples. PCR was performed to amplify the exon 2 of the GJB2 gene followed by direct DNA sequencing. Results A mutation (c.148G > A)was identified at position 148 in exon 2 of the GJB2 gene, which caused a codon change from GAC to AAC and resulted in the substitution of aspartate by asparagine at position 50 in the connexin26 (Cx26)protein (p.Asp50Asn). Inaddition,anothermutation(c. 79G > A), which led to the substitution of valine by isoleucine at codon 27 in Cx26 (p.Val27Ile), was found at position 79 in exon 2 of the GJB2 gene. Neither of the two mutations was detected in the patient′s parents. Literature review revealed that 13 cases of KID syndrome complicated by cutaneous squamous cell carcinoma had been reported in abroad, and the mutation c.148G > A was detected in the GJB2 gene in all the 7 cases finally diagnosed by gene sequencing. Conclusion GJB2 gene mutations may be responsible for the clinical phenotype of KID syndrome in this Chinese patient, and the mutation c.148G > A may be related to the development of cutaneous squamous cell carcinoma.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; DNA Methylation ; DNA-Binding Proteins ; genetics ; Female ; Histone-Lysine N-Methyltransferase ; genetics ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; Nuclear Proteins ; genetics ; Transcription Factors ; genetics ; Young Adult

Objective To explore the MRI appearances of tuberculosis of myelon and spinal meninges,and to study the value of MRI in diagnosis of this disease.Methods The imaging appearances of tuberculosis of myelon and spinal meninges tuberculosis in 8 cases were reviewed.All cases underwent plain MRI and contrast-enhanced MRI examinations.Results In 8 cases,there were myelonic tuberculosis in 3,myelonic tuberculosis accompanied with spinal meninges tuberculosis in 2 and spinal meninges tuberculosis in 3.Myelonic tuberculosis appeared as intramedullary tuberculous granuloma in 2,granulitis in 1 and tuberculous myelitis in 2.The appearances of MRI were spinal cord swelling,low signal intensity on T1WI and high signal intensity on T2WI.On contrast-enhanced MRI,the lesions were circular enhancement,military nodules or non-enhancement.The typical MRI appearances of spinal meningeal tuberculosis showed spinal meninges generally thickened,narrowing or closing of subarachnoid cavity,on contrast-enhanced MRI,the lesions were tubiform enhancement of sagittal images or circular enhancement of axial images.All cases had active tuberculosis in neighbourhood organ or tissue.Conclusion The MRI appearances of tuberculosis of myelon and spinal meninges are representative,the definite diagnosis of which can be made when the MRI appearances in combination with the history of the patients and the active tuberculosis of neighbourhood organ or tissue.

Objective To explore the blood drug concentration monitoring of sustained-release valproate(DK)in children with epilepsy,focusing on the selection of sampling time and evaluation of the results.Methods Two hundred and seventy-one children taking DK and 155 children taking sodium valproate syrup(VPA Syr)were involved and their serum were taken when achieved steady state to determine the valproic acid level using fluorescence polarization immunoassay.They were divided into 4 groups,which were DK taken once daily group(DK qd group,126 children),DK taken once daily at night and sampled on morning group(DK qn group,26 children),DK taken every 12 h group(DK q12 h group,119 children),VPA Syr q12 h group(155 children).Determine the proportion of the blood drug concentration of each group below,ithin and above the therapeutic range for valproate(50-100 mg/L)were determined.The data were analyzed by t test.Results The Cmin of DK qd group were(73.09?19.91)mg/L,significantly lower from the serum concentration of DK qn and sampled on morning group [(94.94?25.44)mg/L](P0.05).Conclusions DK qn should sampled at night before the night dose.The Cmin of DK q12 h was higher according to the therapeutic range,it's favorable range still needs clinical practice.

Objective To exam the expression and the distribution difference between melatonin membrane receptor subtype Mel 1a and Mel 1b in the central nervous system of rats. Methods In situ hybridization technique was used. Results (1)The Mel 1a mRNA positive cells were mainly detected in the hippocampus,cerebral cortex,supraoptic nucleus,paraventricular nucleus,suprachiasmatic nucleus,inferior olivary nucleus,cortex and fastigial nucleus of cerebellar,ventral horn of the spinal cord,facial nerve nucleus,gigantocellular reticular nucleus,striatum cortex and trigeminal nerve nucleus,etc.(2)The Mel 1b mRNA positive cells were mainly observed in the cerebellar cortex,fastigial nucleus,global nucleus,emboliform nucleus of the medullaris cerebelli,hippocampus,cerebral cortex,ventral horn of the spinal cord,supraoptic nucleus and suprachiasmatic nucleus.Conclusion\ Mel 1a mRNA positive neurons were abundant and distributed widely in the CNS,while Mel 1b mRNA\|positive neurons distributed comparatively localized.However,the hippocampus and the cortex were two regions which were rich in both Mel 1a and Mel 1b mRNA positive neurons.\;[

Objective To explore the therapeutic effects and adverse reactions of thalidomide in the treatment of peri-chemotherapy nausea and vomiting of cancer patients.Methods Total of 70 patients were randomly divided into two groups:the treatment group (38 cases) and the control group (32 cases).The treatment group was treated with thalidomide (oral administration at a dose of 100 mg per night,then dose can be added by 50 mg until the top dose of 200 mg per day).The original will be maintained if they cannot be tolerate of extensive dose.The treatment group was also injected 2mg tropisetron in 30 minutes before chemotherapy.The control group was only injected same dose tropisetron.All cases were examined antiemetic effects and evaluated adverse reactions.Results Nausea and vomiting control rates were 89.5 ％ (34/38) and 68.8 ％ (22/32) respectively in the treatment group and control group respectively with significant difference.The adverse reactions were similar between the two groups.Conclusion Thalidomide joint tropisetron can effectively control the peri-chemotherapy nausea and vomiting,and the adverse reactions can be acceptable.It could improve further indications of the drug.

Objective To investigate the effects of salidroside on proliferation and invasive ability of glioma U87-MG cells; To discuss the its mechanism to induce apoptosis of U87-MG cells. Methods U87-MG cells were cultured in vitro for 24 h under different concentrations of salidroside and camptothecin. The proliferation of U87-MG cells was detected by MTT assay. The apoptosis rate of U87-MG cells was detected by flow cytometry. Transwell assay was used to detect the invasive ability of U87-MG cells. ROS was detected by indirect fluorescent labeling. The expressions of Caspase-3, Bcl-2, Bax, E-cadherin, N-cadherin and matrix metalloproteinase-9 (MMP-9) in U87-MG cells were detected by Western blot. Results Compared with the blank control group, U87-MG cells had significant inhibitory effect on the growth of U87-MG cells in each administration group, and the invasive ability of U87-MG cells was significantly reduced after 10, 50, 100 μg/mL salidroside was intervened, and 10, 50, 100 μg/mL salidroside for 48 h for U87-MG cells could induce apoptosis of the cells; the level of ROS was positively correlated with the concentration of salidroside; 10, 50, 100 μg/mL salidroside up-regulated the expressions of Caspase-3, Bax and E-cadherin, and down-regulated the expressions of Bcl-2, N-cadherin and MMP-9. Conclusion Salidroside can induce apoptosis of U87-MG cells and inhibit the invasive ability of U87-MG cells.

Aim To explore the toxicity and safety of five kinds of known positive drugs, cyclophosphamide, acetyl salicylic acid, tetracycline hydrochloride, dexa-methasone acetate and azacitidine, using zebrafish em-bryos. Methods We selected normally developed 4 hpf zygote, and used water bath infecting method to add the drug to the artificial seawater. Each drug had five concentrating groups, a separate control group and solvent control group. We observed the dead zebrafish embryos after 120 hpf drugs, counted the number of deaths and deformities of zebrafish embryos, and cal-culated mortality abnormal rate, the median lethal con-centration (LC50 ), concentration for 50% of maximal effect (EC50 ), therapeutic index (TI) under 120 hpf condition. We also used the formula TI = LC50 / EC50 to calculate positive drug therapeutic index. Based on measured LC50 we calculated most nonlethal concentra-tion (MNLC) of each drug setting, namely 1 / 10 MN-LC, 1 / 3 MNLC, MNLC,LC10 four concentration, tha-lidomide as a positive control, vitamin C as a negative control, artificial seawater as control, 0. 5% DMSO as solvent control. Put in 28. 5 ℃ environment for 120 hours,embryo development was observed daily for de-velopmental state,mortality,deforming rate and abnor-mal condition. Results The result of five drugs LC50 in descending order: cyclophosphamide > azacitidine> tetracycline hydrochloride > acetylsalicylic acid >dexamethasone acetate. EC50 in descending order: cy-clophosphamide > tetracycline hydrochloride > azaciti-dine > acetylsalicylic acid > dexamethasone acetate. The TI values of cyclophosphamide, acetyl salicylic acid, tetracycline hydrochloride, dexamethasone ace-tate, azacitidine were 1. 92, 1. 11, 1. 05, 1. 44, 2. 99, respectively. Conclusion Zebrafish embryo model can be used in the preliminary evaluation of drugs, and the study of early developmental toxicity and safety.

Animals ; Antihypertensive Agents ; pharmacology ; Blood Pressure ; drug effects ; Cold Temperature ; Hypertension ; etiology ; physiopathology ; Hypolipidemic Agents ; pharmacology ; Isoflavones ; pharmacology ; Kidney ; pathology ; Lipid Metabolism ; drug effects ; Lipids ; blood ; Male ; Mice ; Mice, Inbred ICR

Objective:To investigate the short-term efficacy of totally laparoscopic distal gastrectomy (TLDG) after endoscopic submucosal dissection (ESD) versus direct TLDG for early gastric cancer.Methods:The propensity score matching and retrospective cohort study was conducted. The clinicopathological data of 623 patients with early gastric cancer who were admitted to the First Affiliated Hospital of Nanjing Medical University from March 2014 to December 2019 were collected. There were 405 males and 218 females, aged from 26 to 86 years, with a median age of 62 years. Of 623 patients, 25 cases undergoing TLDG after ESD were divided into ESD+TLDG group and 598 cases undergoing TLDG directly were divided into TLDG group. Observation indicators: (1) the propensity score matching conditions and comparison of general data between the two groups after propensity score matching; (2) intraoperative and postoperative situations of TLDG; (3) stratification analysis of the ESD+TLDG group. The propensity score matching was conducted by 1∶2 matching using the nearest neighbor method. Measurement data with normal distribution were represented as Mean±SD, and comparison between groups was done using the t test. Measurement data with skewed distribution were represented as M (range) and comparison between groups was done using the Mann-Whitney U test. Count data were represented as absolute numbers, and comparison between groups was analyzed using the chi-square test or Fisher exact probability. Comparison of ordinal data between groups was analyzed using the Mann-Whitney U test. Results:(1) The propensity score matching conditions and comparison of general data between the two groups after propensity score matching: 75 of 623 patients had successful matching, including 25 in the ESD+TLDG group and 50 in the TLDG group. Before propensity score matching, the body mass index (BMI), cases with tumor diameter ≤20 mm, 21 to 30 mm or>30 mm, cases with tumor classified as stage Ⅰ, stage Ⅱ or stage Ⅲ of clinical staging were (22.3±3.6)kg/m 2, 16, 6, 3, 24, 1, 0 of the ESD+TLDG group, respectively, versus (24.3±2.7)kg/m 2, 238, 125, 235, 312, 126, 160 of the TLDG group, showing significant differences in the above indicators between the two groups ( t=2.744, Z=?2.834, ?4.209, P<0.05). After propensity score matching, the BMI, cases with tumor diameter ≤20 mm, 21 to 30 mm or >30 mm, cases with tumor classified as stage Ⅰ or stage Ⅱ of clinical staging were (22.3±3.6)kg/m 2, 16, 6, 3, 24, 1 of the ESD+TLDG group, versus (23.6±2.9)kg/m 2, 29, 12, 9, 48, 2 of the TLDG group, showing no significant difference between the two groups ( t=1.542, Z=?0.597, 0.000, P>0.05). (2) Intraoperative and postoperative situations of TLDG: after propensity score matching, the operation time and time to postoperative drainage tube removal were 180 minutes(range, 124 to 289 minutes) and 6 days(range, 4 to 13 days) of the ESD+TLDG group,respectively,versus 170 minutes(range, 106 to 250 minutes) and 6 days (range, 4 to 9 days) of the TLDG group, showing significant differences between the two groups ( Z=-2.396, -3.039, P<0.05). Cases with the volume of intraoperative blood loss <50 mL, 50 to 100 mL or >100 mL, the number of lymph node dissected, duration of postoperative hospital stay, cases with perioperative complications as incision fat liquefaction, delayed gastric emptying, anastomotic bleeding or pulmonary infection were 7, 9, 9,34(range, 16 to 58), 8 days(range, 6 to 31 days), 1, 1, 0, 0 of the ESD+TLDG group,respectively,versus 18, 26, 6, 39 (range, 22 to 68), 8 days (range, 6 to 29 days), 0, 0, 1, 1 of the TLDG group, showing no significant difference between the two groups ( Z=-1.703, -1.958, -1.139, χ2=0.033, P>0.05). Cases with anastomotic bleeding were recovered after hemostasis under endoscopy and cases with other perioperative complications were recovered after conservative treatment. (3) Stratification analysis of the ESD+TLDG group. ① For 5 cases undergoing TLDG ≤14 days after ESD and 20 cases undergoing TLDG >14 days after ESD, the operation time of TLDG, cases with the volume of intraoperative blood loss <50 mL, 50 to 100 mL or >100 mL during TLDG, the number of lymph node dissected, time to postoperative drainage tube removal, duration of postoperative hospital stay, cases with perioperative complications were 200 minutes(range, 170 to 289 minutes), 0, 3, 2, 36(range, 9 to 57), 7 days(range, 5 to 9 days), 8 days(range, 7 to 9 days), 1 and 180 minutes (range, 124 to 253 minutes), 8, 6, 6, 34(range, 8 to 78), 6 days(range, 4 to 13 days), 8 days(range, 6 to 31 days), 1, respectively, showing no significant difference in the operation time of TLDG, volume of intraoperative blood loss during TLDG, the number of lymph node dissected, time to postoperative tube removal and duration of postoperative hospital stay between the two groups ( Z=?1.536, ?1.993, ?0.238, ?0.932, ?0.589, P>0.05), and no significant difference in cases with perioperative complications between the two groups ( P>0.05). ② For 13 cases undergoing TLDG ≤21 days after ESD and cases undergoing TLDG >21 days after ESD, the operation time of TLDG, cases with the volume of intraoperative blood loss as <50 mL, 50 to 100 mL or >100 mL during TLDG, the number of lymph node dissected, time to postoperative drainage tube removal, duration of postoperative hospital stay, cases with perioperative complications were 200 minutes(range, 145 to 289 minutes), 2, 6, 5, 34(range, 8 to 57), 6 days(range, 4 to 11 days), 8 days(range, 6 to 11 days), 1 and 179 minutes(range, 124 to 240 minutes), 6, 3, 3, 34(range, 16 to 78), 6 days(range, 5 to 13 days), 8 days(range, 6 to 31 days), 1, respectively, showing a significant difference in the operation time of TLDG between the two groups ( Z=?2.241, P<0.05), while showing no significant difference in the volume of intraoperative blood loss during TLDG, the number of lymph node dissected, time to postoperative drainage tube removal, duration of postoperative hospital stay between the two groups ( Z=?1.471, ?0.163, ?0.084, ?0.194, P>0.05) and no significant difference in cases with perioperative complications between the two groups ( P>0.05). ③ For 15 cases undergoing TLDG ≤28 days after ESD and 10 cases undergoing TLDG >28 days after ESD, the operation time of TLDG, cases with the volume of intraoperative blood loss <50 mL, 50 to 100 mL or >100 mL during TLDG, the number of lymph node dissected, time to postoperative drainage tube removal, duration of postoperative hospital stay, cases with perioperative complications were 190 minutes (range, 145 to 289 minutes), 2, 7, 6, 33(range, 8 to 57), 6 days(range, 4 to 11 days), 8 days(range, 6 to 31 days), 1 and 179 minutes(range, 124 to 240 minutes), 6, 2, 2, 37(range, 16 to 78), 6 days (range, 5 to 13 days), 8 days(range, 6 to 14 days), 1, respectively, showing no significant difference in the operation time of TLDG, volume of intraoperative blood loss during TLDG, the number of lymph node dissected, time to postoperative tube removal and duration of postoperative hospital stay between the two groups ( Z=?1.619, ?2.000, ?0.667, ?0.370, ?0.057, P>0.05), and no significant difference in cases with perioperative complications between the two groups ( P>0.05). Conclusions:Compared with cases undergoing TLDG directly, the operation time to TLDG and time to drainage tube removal after TLDG for cases undergoing ESD+TLDG are prolonged, but there is no difference in the short-term efficacy. For cases undergoing TLDG ≤21 days after ESD and cases undergoing TLDG >21 days after ESD, there is a significant difference in the operation time of TLDG.