We reported a case of microcephaly-capillary malformation(MIC-CAP)caused by STAMBP gene variant,in order to improve the clinical diagnosis and treatment.The patient is a 3-month-old male with recurrent convulsions and the main clinical manifestations are multiple forms of seizures,microcephaly,multiple small capillary malformations in the skin,and generalized hypotonia.The genetic test showed that a heterozygous variant in the STAMBP gene was present in the child.Both parents were heterozygous carriers.He was administrated various anti-seizure medications and ketogenic diet,but still had frequent seizures.He then underwent corpus callosotomy,and was followed up until he was 4 years and 10 months old.The post operational outcome was grade IV on Engel's classification.Based on the clinical data of 22 patients in literature,in addition to severe psychomotor retardation,microcephaly,and cutaneous capillary malformations,early-onset drug-refractory epilepsy is also a major feature of MIC-CAP syndrome,which is clinically rare and has a poor prognosis;Callosotomy may help to reduce seizures in the short term.However,the long-term outcome is poor.STAMBP gene is the main responsible gene for this syndrome.

Objective:To compare the efficacy and safety of CT and ultrasound-guided percutaneous biopsy of lung or pleural lesions.Methods:The clinical data of 193 patients with lung space occupying lesions near the pleura who underwent CT or ultrasound-guided percutaneous puncture in Shiyan People's Hospital Affiliated to Hubei University of Medicine from February 2017 to October 2020 were analyzed retrospectively. According to the puncture mode, the patients were divided into CT-guided group ( n=115) and ultrasound-guided group ( n=78) . The general clinical data, pathological examination results, puncture success rate and complication rate were compared between the two groups. Logistic regression was used for univariate and multivariate regression analysis. Results:The detection rate of malignant tumors in the CT-guided group (60.00%, 69/115) was higher than that in the ultrasound-guided group (50.00%, 39/78) , with no statistically significant difference ( χ2=1.89, P=0.170) . The puncture success rate in the CT-guided group (88.70%, 102/115) was slightly lower than that in the ultrasound-guided group (93.59%, 73/78) , with no statistically significant difference ( χ2=1.32, P=0.251) . The incidence of postoperative complications in the CT-guided group (18.26%, 21/115) was higher than that in the ultrasound-guided group (6.41%, 5/78) , with a statistically significant difference ( χ2=5.60, P=0.018) . The incidence of pneumothorax in the CT-guided group (13.04%, 15/115) was higher than that in the ultrasound-guided group (3.85%, 3/78) , with a statistically significant difference ( χ2=4.65, P=0.031) . The incidence rate of bleeding in the CT-guided group (5.22%, 6/115) was higher than that in the ultrasound-guided group (2.56%, 2/78) , with no statistically significant difference ( χ2=0.82, P=0.364) . In the CT-guided group, 1 patient (0.87%) had severe bleeding requiring surgical treatment, 5 patients (4.35%) required closed thoracic drainage for treatment. In the ultrasound-guided group, no patients had pneumothorax or bleeding requiring drainage or surgery. Univariate analysis showed that the puncture method was an independent risk factor for the puncture success rate in patients with lesion-pleura contact arc length (LPCAL) ≥38 mm ( OR=7.82, 95% CI: 1.57-35.50, P=0.039) . Multivariate analysis showed that puncture method is an independent risk factor affecting the puncture success rate in patients with LPCAL≥38 mm ( OR=7.75, 95% CI: 1.44-41.36, P=0.042) . Among patients with LPCAL≥38 mm, the puncture success rates of CT- and ultrasound-guided puncture were 84.38% (54/64) and 98.00% (49/50) , respectively, and the puncture success rate of CT-guided puncture was lower than that of ultrasound-guided puncture, with a statistically significant difference ( χ2=4.52, P=0.034) . In LPCAL<38 mm patients, the puncture success rates of CT- and ultrasound-guided puncture were 94.12% (48/51) and 85.71% (24/28) , respectively, and the CT-guided puncture success rate was higher than that of the ultrasound-guided puncture, with a statistically significant difference ( χ2=0.71, P=0.399) . Conclusion:Ultrasound-guided percutaneous puncture biopsy of lung or pleural lesions has the advantages of high diagnostic rate and few complications. Both ultrasound-guided and CT-guided puncture biopsy are feasible methods for puncture of chest wall lesions. When LPCAL≥38 mm, ultrasound-guided puncture biopsy may have more advantages.

Objective To investigate the effect of microRNA-134-5p (miR-134-5p) targeting epidermal growth factor receptor (EGFR) on the growth of ovarian cancer cells.Methods The ovarian cancer cell lines SKOV3 and A2780 served as the study objects and were divided into the control group (transfecting miR-NC) and experimental group (transfecting miR-134-5p) according to the treatment method.The expression levels of EGFR gene and downstream target protein were detected by qRT-PCR and western blot.The cell cycle distribution and apoptosis were detected by flow cytometry.The proliferation ability of ovarian cancer cells was detected by MTT assay and colony forming assay.Results The expressions of EGFR and downstream target protein in the experimental group were significantly down-regulated.EGFR mRNA in SKOV3 cells was downregulated to 48％ (P＜0.05),and EGFR mRNA in A2780 cells was down-regulated to 47％ (P＜0.05).The cell cycle of cells in the experimental group was significantly inhibited (P＜0.05),and miR-134-5p induced apoptosis through the EGFR target protein (P＜0.05).The proliferation activity and colony forming ability of the experimental group were significantly inhibited (P＜0.05).Conclusion miR-134-5p could promote the cellular cycle arrest and apoptosis,and reduces the proliferation ability of ovarian cancer cells by targetedly inhibiting the EGFR gene.

OBJECTIVE:To investigate the clinical efficacy and safety of Cinobufacin capsules combined with radiotherapy in the treatment of median and advanced nasopharyngeal carcinoma. METHODS:Ninety-five patients with median and advanced naso-pharyngeal carcinoma in cancer center of our hospital during 2011-2012 were analyzed retrospectively,and then divided into con-trol group (57 cases) and observation group (38 cases) according to therapy plan. Control group received radiotherapy alone, while observation group was additionally given Cinobufacin capsule 0.5 g,tid,till the end of radiotherapy. A treatment course last-ed for 4 weeks. The prolonged radiotherapy were compared between 2 groups. Clinical response rate was observed in 2 group,and 1-year and 3-year survival rate and the occurrence of ADR were followed up. RESULTS:The proportion of prolonged radiotherapy was 89.47% in control group,which was significantly higher than 52.63% of observation group,with statistical significance(P<0.05). At the end of therapy and one month after therapy,clinical total response rates of observation group were 81.58% and 63.16%,which were significantly higher than 70.18% and 45.61% of control group,with statistical significance (P<0.05). The incidence of white blood cell lowering,hemoglobin lowering,local side effect of radiotherapy, nasopharyngeal dysphagia/odyno-phagia in observation group were significantly lower than in control group,with statistical significance (P<0.05). There was no statistical significance in survival rate between 2 groups in 1st-year and 3rd-year follow-up (P>0.05). CONCLUSIONS:Cinobu-facin capsule combined with radiotherapy can significantly relieve the side effects of radiotherapy in median and advanced nasopha-ryngeal carcinoma patients.

Objective To investigate the enhancing radiosensitization effect of metformin on cervical cancer Hela cell and to explore its mechanism. Methods The radiosensitization effect was observed by Clone forming assay;Hela cell cycle distribution was detected by flow cytometry method;Apoptotic changes was measured by fluorescence microscope and DAPI(4', 6-diamidino-2-phenylindole) staining; The expression of vascular endothelial growth factor ( VEGF ) protein was detected by Western blotting. Results Compared with radio alone,the cell survival rate was reduced either by combination with metformin or by metformin alone(P<0.05).The cell survival rate also depended on drug by various schedules and drug concentration(P<0.05).Metformin alone or combined with radiation could arrest cell cycle in G2/M phase(P<0.01),induce cell apoptosis.The levels of protein of VEGF was decreased by metformin, radiation alone or combination( P<0.05) . Conclusion Metformin has a radiosensitization effect on Hela cell cultured in vitro, which may be related to arresting in G2/M phase, inducing cell apoptosis and down-regulating the level of VEGF protein.

Objective To observe the clinical efficacy and adverse reactions of compound mylabris capsules combined with concurrent chemoradiotherapy for patients with locally advanced cervical cancer. Methods From September 201 3 to September 201 4,we collected 80 patients with stage ⅡB-ⅣA cervical cancer who were admitted to Cancer Center of Affiliated People′s Hospital of Hubei University of Medicine. They were divided into the observation group (n =40)and control group (n =40)according to random number table.Patients of observation group were treated with compound mylabris capsules combined with chemo-radiotherapy,and patients of the control group were treated with the concurrent chemoradiotherapy alone.TP scheme of paclitaxel plus cisplatin was used in chemotherapy.Intensity-modulated radiation therapy (IMRT) and intracavitary brachytherapy was used in radiotherapy.The effective rates,Karnofsky Performance Status (KPS)scores,and recent adverse reactions in the two groups were compared.Results The short-time effec-tive rates in the observation group and control group were 97.5% and 95.0% respectively,with no significant difference (χ2 =0.346,P =0.556).The grade Ⅲ-Ⅳ adverse reactions in the observation group and control group included leucopenia (80.0% vs.95.0%),lower hemoglobin (22.5% vs.45.0%),thrombocytopenia (60.0% vs.82.5%),radioactive urocystitis (5.0% vs.30.0%),radioactive proctitis (1 0.0% vs. 30.0%),with significant differences (χ2 =4.1 1 4,P =0.043;χ2 =4.528,P =0.033;χ2 =4.943,P =0.026;χ2 =8.658,P =0.003;χ2 =5.000,P =0.025).The KPS score in the observation group was higher than that in the control group (90 vs.70),with significant difference (Z =4.523,P =0.000).Conclusion The clinical efficacy of compound mylabris capsules combined with concurrent chemoradiotherapy and chemoradio-therapy alone for patients with locally advanced cervical cancer are similar.Compound mylabris capsules can re-duce the rates of adverse reactions such as leucopenia,lower hemoglobin,thrombocytopenia,radioactive urocysti-tis and radioactive proctitis,and can improve KPS score,which plays a role of reliving toxicity.

Objective To explore the growth and developmental parameters and behavioral characteristics of rhesus monkeys during the first year of birth and to establish the background data.Methods A total of 18 (♂=11,♀=7 ) infant rhesus monkeys born from individually caged mothers and with known genetic background and postnatal days were monitored monthly for body weight, body height, head circumference, chest circumference, forelimb length, hind limb length, crown-rump length, tail length and anal-genital distance from postnatal day ( PND) 1 to 360, while hematology, blood chemistry and lymphocyte subsets were examined on PND 28, 175 and 360, and finger maze test was carried out on PND 208.Results The body weight showed linear growth with no significant difference between genders (P>0.05). Except for the anal-genital distance of male infants was significantly greater than that of female infants ( P<0.01 ) , no significant differences were observed between sexes in other morphological parameters.No significant differences of hematology were seen between genders (P >0.05).Compared with that at PND28, TP and BUN were significantly increased (P<0.01) while ALP decreased with no significant difference (P>0.05) at PND 175 and 360.Compared with that at PND28, CD4 +and CD4 +/CD8 +were significantly decreased ( P<0.01) while CD8+significantly increased ( P<0.01) at PND175 and 360.The number of sessions to solve task 2 in learning test was significantly greater than other tasks with females significantly less than males ( P<0.05) .The females had higher correct rate than males in the 2-day random memory test (P<0.05).Conclusions Body weight and morphological parameters show a linear growth.The PND.The RBC, HGB, LYMPH, TP, BUN, ALP, CD4 +, CD8 +and CD4 +/CD8+in hematology, blood chemistry and lymphocyte subsets show relevant changes to the growth and development of organs and systems in infants, which should be highly concerned in drug evaluation.The finger maze test indicates that female infants have better reversal learning and long-term memory than male infants.Background data and behavioral characteristics of infant rhesus monkeys during the first 12 months of birth are established in this study, which provide useful reference and support the evaluation of developmental and reproductive toxicity of drugs in rhesus monkeys.

Objective To observe the effect of epidermal growth factor receptor (EGFR)sig-nal transduction inhibitor RG-14260 (RG)alone or combined with mTOR signal transduction inhibitor rapamycin (RA)on the proliferation and expression of decorin (DCN)in Ishikawa cells in vitro. Methods After treated with RG alone or combined with RA for 24 hours,immunohistochemical meth-od was used to detect the expression of proliferating cell nuclear antigens (PCNA).Reverse tran-scriptase-polymerase chain reaction (RT-PCR)and Western blot method were used to detect the ex-pression changes of DCN genes and proteins in cells respectively.Results RG alone or combined with RA were able to decrease the expression rate of positive PCNA cells in Ishikawa cells,promote the ex-pression of DCN genes and proteins,but the efficacy of combined application was more significant. Conclusion Single and combined applications of EGFR and mTOR signal transduction inhibitors can up-regulate the expression of DCN in Ishikawa cells at the levels of genes and proteins,and meanwhile the increased DCN can reinforce the inhibitory effect of signal transduction inhibitors on the cell prolif-eration.

Objective To observe the effect of epidermal growth factor receptor (EGFR)sig-nal transduction inhibitor RG-14260 (RG)alone or combined with mTOR signal transduction inhibitor rapamycin (RA)on the proliferation and expression of decorin (DCN)in Ishikawa cells in vitro. Methods After treated with RG alone or combined with RA for 24 hours,immunohistochemical meth-od was used to detect the expression of proliferating cell nuclear antigens (PCNA).Reverse tran-scriptase-polymerase chain reaction (RT-PCR)and Western blot method were used to detect the ex-pression changes of DCN genes and proteins in cells respectively.Results RG alone or combined with RA were able to decrease the expression rate of positive PCNA cells in Ishikawa cells,promote the ex-pression of DCN genes and proteins,but the efficacy of combined application was more significant. Conclusion Single and combined applications of EGFR and mTOR signal transduction inhibitors can up-regulate the expression of DCN in Ishikawa cells at the levels of genes and proteins,and meanwhile the increased DCN can reinforce the inhibitory effect of signal transduction inhibitors on the cell prolif-eration.

Objective To assess the effectiveness of the combined treatment model for Wilms'tumor and to improve treatment results.Methods Fifty-five patients diagnosed with Wilms' tumor between July 1981 to June 2010 were analyzed retrospectively.Eighteen patients were diagnosed by preoperative ultrasound-guided fine needle biopsy,and 53 patients were confirmed by postoperative pathology results.Seven cases were in clinical stage Ⅰ,19 cases in clinical stage Ⅱ,21 cases in stage Ⅲ,six cases in stage Ⅳ and two cases in stage Ⅴ.Thirty-five cases had histopathological subtype,30 cases had the favorable type,and five cases had the unfavorable type.Among the 55 patients,kidney tumor resection was performed on 48 cases,wide edge partial nephrectomy was performed on two cases,tumor enucleation was performed on one bilateral renal tumor case,kidney tumor resection with pulmonary metastasectomy was performed on two cases,and two cases had no surgical procedures.Eighteen cases received preoperative chemotherapy,40 cases received postoperative chemotherapy,and 12 cases received postoperative radiotherapy.Patients were grouped according to age,stage,histological type,treatment model,treatment course and whether or not they had radiotherapy.The Kaplan-Meier method was used in the evaluation and comparison of over survival (OS),disease free survival (DFS) and relapse free survival (RFS) of the different groups to reveal the relationship between different grouping factors with the prognosis of Wilms' tumor. ResultsThe median of follow-up was 34 mon ( ranging from 3 to 355 mon).The 3-year OS,5-year OS and 2-year DFS were 77.6％,69.0％ and 52.4％,respectively.The differences of OS in different stages ( P =0.006 ),DFS between pure operation group and combined therapy group ( P =0.004 ) and RFS between radiotherapy group and no radiotherapy group ( P =0.03 ) were significant,P ＜ 0.05.ConclusionsThe normative multi-disciplinary treatment model for patients with Wilms' tumor can achieve good results and is well tolerated.