Objective To study the molecular pathogenesis of non -syndromic deafness in a Chinese family . Methods Clinical materials and DNA sample were obtained from the non -syndromic family with autosomal reces‐sive deafness .The exons and the flanking splicing sites of GJB2 and SLC26A4 were tested in all family members by PCR and direct sequencing .Results There were four deafness patients in the family ,and three of them had the same clinical phenotypes ,including prelingual profound sensorineural hearing loss and enlarged vestibular ,while the re‐mained one only presented to be prelingual profound sensorineural hearing loss without malformation of temporal bone .One type of GJB2 mutation and 3 different types of SLC26A4 mutations were identified in the family .The proband(Ⅲ -1) ,her sister(Ⅲ -2) ,her mother(Ⅱ -4) and her father(Ⅱ -3) carried different biallelic mutations which were SLC26A4 c .919 -2A > G/p .H723R ,p .Q413R/c .919 -2A > G ,p .Q413R/p .H723R and GJB2 c . 235delC/c .235delC ,respectively .Conclusion Different from most reported deafness families with the same molecu‐lar etiology in each one ,interestingly ,the pathogenies were different among all affected members in this family . They were caused by different biallelic mutations of SLC26A4 or GJB2 .

Objective To evaluate the video-assisted thoracoscopic surgery(VATS) in the diagnosis and treatment of open thoracic traumas. Methods From July 2003 to July 2008,video-assisted thoracoscopic surgeries,including thoracic exploration,repair of the pulmonary laceration,parietal pericardium and diaphragm,hemostasis,evacuation of the clotted hemothorax,and mini-incision thoracotomy,were carried out in 64 selected patients with open thoracic traumas. Results Via VATS,all the 64 patients were diagnosed accurately: pulmonary laceration in 43(56 lesions),pericardiac rupture in 7(one of them showed right ventricular rupture),diaphragmatic rupture in 9(5 of them were complicated with spleen rupture,1 with hepatic rupture,and 1 with gastric rupture perforation),single intercostal vessel injury in 5,and combined intercoastal vessel injury in 3.The procedures involved VATS pulmonary laceration repair in 24(combined with thoracic wall hemostasis in 2),VATS combined mini-incision thoracotomy pulmonary laceration repair with Endo-GIA in 11(silk suture was employed in 6,and pulmonary wedge resection in 2).Through VATS procedure,hemostasis and repair were completed for pericardiac repair in 3,and diaphragmatic repair in 5.Thirteen cases were converted to open thoracic surgery.The duration of VATS procedure ranged from 32 to 124 minutes with a mean of 65.8 minutes.After the procedure,6 patients developed pneumothorax,4 showed mild subcutaneous emphysema,and 9 had slight hemoptysis in 1 to 12 days after the treatment.The patients were followed up for 2 to 60 months(mean,28.5 months).Chest X-ray performed during the period showed no pleural effusion,pneumothorax or other trauma-related complications.Conclusion VATS is effective for the diagnosis and treatment of open thoracic traumas with less surgical injuries and good outcomes.

Objective To investigate the phenotype,number and distribution of inflammatory cells in early and late stages of spontaneous regression of halo nevi,and to elucidate the immunological mechanisms for spontaneous regression of these nevi.Methods Halo nevi,their surrounding non-lesional skin,and normal control skin were examined by immunohistochemical staining with monoclonal antibodies to CD3,CD4,CD8,CD20,CD1a,CD56 and CD68.Staining results were observed and analyzed by the computer image analysis system,image-pro plus 6.0.Results The number of CD4+,CD8+,CD20+,CD1a+cells,along with the diameter of CD1a+and CD68+ cells was significantly increased in the lesions of early and late stage of spontaneous regression of halo nevi than in non-lesional skin and normal control skin(both P＜0.01).The ratio of CD8+/CD4+ cells in the lesions of late stage of spontaneous regression was also higher than that in the lesions of early stage (2.05∶1 VS 1.82∶1).A massive infiltrate of CD8+ cells was observed in the nests of nevus cells.ConclusionsCD4,CD8,CD20,CD1a,CD56 and CD68 positive cells are all involved in the spontaneous regression of halo nevi,and CD8+ cells may play a predominant role in this process.

Objective To study the in vitro culture condition for melanoblasts from human foreskin tissue. Methods The skin tissue taken from foreskin of children was treated with 0.5% dispase Ⅱ to separate epidermis from dermis, then with trypsin to obtain single cell suspension, which was cultured in modified medium for melanoblasts, i.e., MCDB254 medium supplied with several cell growth factors. Finally, melanoblasts were obtained based on the difference of adhesion speed. The morphology and proliferation of cultured melanoblasts were observed under a light microscope. DOPA staining, immunostaining with anti- S-100 and -tyrosinase related protein 2 (TRP2) antibodies, and transmission electron microscopy were per- formed to identify the cultured melanoblasts. Results The cultured human melanocytes displayed a match-like shape, scattered arrangement, syrmnetric double poles, slim cell body, highly refractive nuclei; meanwhile, the melanoblasts exhibited plentiful cytoplasm, large volume, bipolar or irregular shape and clonal growth. Additionally, the melanocytes were positive for TRP2, S-100 and Dopa staining, while the melanoblasts were positive only for TRP2. Electron microscopy revealed the presence of mature melanin granules (stage Ⅲ-Ⅳ ) in melanocytes but immature melanin granules (stage Ⅰ ) in melanoblasts. Conclu- sion Stable pure culture of melanoblasts has been realized with the reformed medium, which may lay a foundation for the investigation into the mechanism of epidermal pigmentation.

Objective To evaluate the safety and effectiveness of mechanical thrombectomy with Solitaire AB stent in the treatment of large intracranial artery occlusions.Methods The calinical data of 15 patients with acute stroke(more than 3.5 h intravenous thrombolysis time window) who were carried out arterial embolectomy with Solitaire AB stent in the No.264th Hospital of the Chinese People's Liberation Army were retrospective analyzed.There were 11 cases of middle cerebral artery(MCA),2 cases of internal carotid artery (ICA),1 case of vertebral artery(VA) pluse basilar artery(BA),and 1 case of anterior artery(AA).The recanalization occluded situation and surgical complications were analyzed,NIHSS score of preoperatively and at discharge were compared.Results In 15 cases,there were 14 cases of totally recanalization,1 case of partial recanalization.Two case with MCA stenosis and 1 case with VA stenosis after the recanalization were accepted stent angioplasty,2 csase died.NIHSS score of 13 cases survival patients increased from (22.85±4.75) scores on admission to (4.39 ±3.67) scores out of hospital,and the difference was statistically sinificant(t=2.752,P ＜0.01).Conclusion The mechanical thrombectomy with Solitaire AB stent can get high recanalization rate,fewer complications and good clinical outcome on patients with large intracranial artery occlusions.For more than venous or arterial thrombolysis time window,the mechanical thrombectomy can be considered within the 8 h after comprehensive evaluation.

Objective To research and develop a new type of temperature recorder system of vehicle-mounted blood bank which is used in the field training and combat. Methods Based on ATmega48 SCM as control core, the components including digital temperature recorder, LCD, buzzer and so on are used. Results The recorder can not only monitor temperature and display real-time, but also store the data in the recorder of the serial EEPROM (CAT24C64). Additionally, when the temperature exceeds the given range, it can be automatic alarm. Conclusion The temperature recorder with a short collection cycle, the record for a long time and high sensitivity, cost-effective, small size and easy to carry, etc., can be widely used in medicine, food, chemicals, electronic manufacturing, warehousing, logistics, as well as agriculture and other sectors.

Objective To investigate the clinical significance of β2-microglobulin(β2-MG),glycated hemoglobin(HbA1c) and cystain C(CysC) in the diagnosis of early diabetic kidney injury.Methods Seventy cases of diabetic nephropathy(group DN) and 110 cases of simple diabetes(group DM) admitted and treated in our hospital from June to November 2015 were selected as the research subjects and performed the contrastive study with the 50 volunteers undergoing physical examination (control group)in the same period.The levels of β2-MG,HbA1c,CysC,SCr and Urea were compared among three groups.Results Compared with the control group,the SCr and Urea levels in the DM group had no statistically significant difference (P>0.05),while the β2-MG,HbA1c and CysC levels in the DM group were significantly higher than those in the control group(P<0.05);the levels of β2-MG,HbA1c,CysC,SCr and Urea in the DN group were significantly higher than those in the control group and DM group,the differences were statistically significant (P<0.05).The positive rates of single index detection and combined detection of β2-MG,HbA1c and CysC I the DN group were significantly higher than those in the DM group,and the differences were statistically significant (P<0.05).Conclusion For the patients with diabetes,β2-MG,HbA1c and CysC can better reflect the early damage of renal function,their joint detection is conducive to the diabetic treatment and disease condition monitoring.

Although chemotherapy is an effective way for advanced gastric cancer ,it does not significant-ly improve the prognosis of patients .Recently ,further researches on the mechanism of gastric cancer have led to the identification of ′driver gene′and the development of new agents that target these genes .By inhibiting the hu-man epidermal growth factor receptor 2(Her-2)for advanced gastric cancer ,it provides a new treatment for pa-tients.Trastuzumab is a kind of Her -2 monoclonal antibody ,it is the first kind of targeted therapy drug for the treatment of advanced and metastatic gastric cancer .A combination of trastuzumab with cisplatin and fluorouracil based chemotherapy can benefit patients overall survival .Therefore,in this paper,we make a review and summary of a set of recent studies related to the gastric targeted therapy .

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