Background Genetic mutation remains to be the most common cause of congenital cataract.Whole exon sequencing technology is an ideal method to detect the pathogenic gene mutations.Objective This study was to identify the pathogenic gene in a Chinese autosomal dominant congenital cataract (ADCC) family by whole-exome sequencing.Methods This study complied with Helsinki Declaration and the protocol was approved by Ethic Committee of Peking University Third Hospital.Informed consent was obtained from each subject before any medical examination.A cross-sectional study was designed.A Chinese ADCC family with 4 generations and 48 members were enrolled in Peking University Third Hospital,of which Ⅰ1 and Ⅰ2 died.The periphery blood of 8-10 ml was collected from each member of Ⅱ,Ⅲ and Ⅳ generations for the high throughput sequencing of genes using whole exon trapping and new sequencing technology,and the sequencing results were compared with the data of human HA PMAP8,dbSNP130 and 1000 Genome Project database.The synonymous mutation was filtered after reported common variants,and the false positive results of explicit sequencing were finally excluded by Sanger sequencing and then the candidate genes were identified.The mutation genes were screened to determine the pathogenic gene of this ADCC family.Results Eleven ADCC patients were found in this family,and the patients distributed in each generation with an equal chance for involvement in male and female subjects,which conformed to an autosomal dominant inheritance pattern.All the patients were nuclear cataract.Genome-wide whole-exome sequencing found that major intrinsic protein (MIP) gene was known genes of ADCC in initially identified candidate genes,so the Sanger was used to verify the MIP gene.The heterozygous mutation of MIP gene (chr12:56845250 C ＞ T) appeared to be the pathogenic cause of this ADCC family.The mutation occurred in the splice sites of the gene,resulting in the fourth exon coded-61 amino acids are replaced by leucine,histidine and serine,which lead to the abnormal truncated proteins.Conclusions The heterozygous mutation of MIP gene is the molecular pathogenesis of this Chinese ADCC family.

ObjectiveTo investigate the imaging characteristics of solitary fibrous tumor(SFT).MethodsThis study included 11 cases with SFT proved by pathological results.The imaging manifestations were retrospectively reviewed and analyzed in comparison with surgical and pathological results. Among them,8 patients underwent CT plain scan (1/8) or enhanced scan (7/8),4 patients underwent MR plain scan (2/4) or enhanced scan (2/4),and only 1 patient underwent both CT and MR scan.Results( 1 )SFT were located in the thoracic cavity(2/11 ),abdominal and pelvis(5/11 ),and somatic soft tissues (4/11 ).The average tumor size was 11.8 cm ( 2.5 to 23.0 cm).Among them,4 tumors were round or ellipse,and 7 tumors were irregular.Eight tumors had well-defined contours,and the others showed illdefined contours.(2)On CT scan,all SFTs showed inhomogeneous density with low density areas.Calcification was seen in I case,and hemorrhagic foci were detected in 2 cases.(3)On MR scan,all SFTs showed intermediate signal intensity on T1 WI.Three tumors were slightly hyperintense and the other was hypointense on T2WI.All of them were rich of vascular signal voids.Three tumors,including 2 tumors with scattered long T1 and T2 signal and 1 tumor in the liver with hyperintense haemorrhage,displayed inhomogeneous mixed signal.One tumor in the orbit showed homogeneous signal.(4)On enhanced scan,9 tumors showed irregular enhancement with multiple circuitous vessels in the arterial phase,and continuous or progressive enhancement with patch non-enhanced areas in the venous phase.( 5 ) Histologically,SFTs were composed of juxtaposed hyper- and hypo-cellular spindle cells,dense collagenous stromas and numerous thin-walled blood vessels with a staghorn configuration.Conclusion The possibility of SFT should be considered when a single soft tissue mass with sharp border,inhomogeneous density is detected,especially with inhomogeneous enhancement maintaining in the venous phase.

Objective:To investigate the diagnosis and therapy of space-occupying lesion of middle skull base involving sphenoid sinus.Method:A retrospective analysis was performed. Eighteen patients with extradural space-occupying lesion of middle skull base involving sphenoid sinus underwent transnasal endoscopic surgery.Result:One case of primary empty sella turcica was misdiagnosed as sphenoidal sinus cyst. One case of fibrous dysplasia and one case of meningioma were all misdiagnosed as mycotic sphenoiditis. Total rate of misdiagnosis was 16.7%.Among the 18 cases, 17 cases underwent complete resection of the lesion, and only 1 case underwent major resection of the lesion. The amount of blood loss during surgery ranged between 100 ml and 2500 ml.One case had bacterial meningitis which was cured after corresponding treatment. One case was blind in both eyes. And the other case died of pulmonary embolism.Conclusion:Transnasal endoscopic surgery is feasible and practical to treat benign space-occupying lesion of sphenoidal sinus and extradural lesion of middle skull base involving sphenoidal sinus. Definite diagnosis, accurate location and careful operation are important to complete the surgery successfully.

Objective To investigate the effect of lacosamide on expression of Nav1 .8 in dorsal root ganglia (DRG) in a rat model of chronic neuropathic pain.Methods Thirty-six female specific-pathogen-free (SPF)SD rats were randomly assigned into 3 groups ( n = 12 each): sham operation group (group S), model group (group M) and lacosamide group (group L) . Chronic neuropathic pain was produced by insertion of a small stainless steel rod (4.00 mm in length and 0.63 mm in diameter) into the L, intervertebral foramen in the rat, producing a chronic steady compression of the DRG in M and L groups. The mechanical threshold was measured 2 days before operation and on the 2, 4, 6, 7, 8, 9 and 10 days after operation (T0-7 ) . Intraperitoneal lacosamide 20mg/kg (in normal saline 0.5 ml) was injected at T4-7, twice a day in S and L groups. In group M, normal saline 0.5 ml was injected at T4-7 twice a day and the mechanical threshold was measured after the last administration everyday . The L, DRG on the operated side was removed after measurement of pain threshold to detect the expression of Na, 1.8 mRNA and protein by RT-PCR and immuno-histochemistry respectively. Results Compared with group S, the mechanical pain threshold was significantly decreased at T1-7 and the expression of Navl .8 mRNA and protein was up-regulated in M and L groups ( P < 0.05) . Compared with group M, the mechanical pain threshold was significantly increased at T4-7 and the expression of Nav 1.8 mRNA and protein was down-regulated in group L ( P < 0.05) . Conclusion The mechanism by which lacosamide reduces chronic neuropathic pain is related to the down-regulation of the expression of Nav 1.8 in rat DRG.

Objective To observe the anesthesia and recovery results of sevoflrane and remifentanil combined anesthesia in open or laparoscopic surgeries. Methods 60 cases of ordinary surgeries from the department of gynecology and general surgeries were included in this study with 30 cases in each group. (1)recording total sevoflurane inhalation time, muscular relaxant amount, end tidal sevoflurane concentration;(2)recording BP,HR at 10 min after induction,operation staring and ending,ventilation recovery, opening eye and extubation period;also sevoflurane concentration 5 min after stopping medicine and ventilation recovery;recording time period between surgery ending and autonomous respiration recovery , eye opening and extubation. Results No any adverse events happen in each patient.the sevoflurane inhalation time in open surgery group was (157.20 ± 47.28) min, longer than that of laparoscopic surgeries group (73.50 ± 11.23)min(P<0.05), we had seen no statistical significance in all other index observed (P>0.05). Conclusion Sevoflurane combined remifentanil anesthesia can achieve stable intra-operative maintenance and rapid postoperative recovery quality , we suggest the widespread usage of it in clinic.

Objective To explore the relationship between temperature and change of serum electrolytes (potassium, natrium, chlorine,and calcium) in patients with spinal cord injury. Methods 321 patients with spinal cord injury (SCI) following fever were regarded as observation group, while 313 SCI patients in normal temperature as control group. The level of serum electrolytes (potassium, natrium, chlorine, and calcium) in both groups was analyzed. Results There was no significant difference in the level of serum potassium (P>0.05), but was in the serum natrium, chlorine, and calcium (P<0.05) between 2 groups. The level of serum potassium didn't correlated with their temperature, and the level of serum natrium, chlorine, and calcium correlated with the temperature negatively. Conclusion The level of serum natrium, chlorine, and calcium may decrease in SCI patients following fever while the level of serum natrium is unchanged.

Objective To study inhibition effect of rosiglitazone on lung injury induced by paraquat. Methods 72 male SD rats were randomly divided into three groups ( n=24 ): model control group, paraquat ( PQ ) was administered intraperitoneally at the dose of 20 mg·kg-1;rosiglitazone group, rosiglitazone (10 mg·kg-1 , ip) was administered 1 h before PQ administration; blank control group, 1 mL 0. 9% sodium chloride solution was administered intraperitoneally. The concentration of TNF-α and IL-1β in serum was measured by ELISA at 4, 8 h and 1, 3 day(s) after PQ exposure. The lung injury scores and nuclear factor-kappa B( NF-κB) positive signal were investigated 3 days after PQ exposure by HE staining and immunohistochemistry, respectively. Protein expression levels of NF-κB and activating protein-1(AP-1) were also determined by using Western blotting. Results The levels of IL-1β and TNF-α in serum of PQ-treated rats were significantly increased as compared with blank control group. Rosiglitazone pretreatment reduced the degree of lung tissue injury, the levels of IL-1β and TNF-α in serum, and the protien expression levels of NF-κB and AP-1 as compared with the model control group. Conclusion Rosiglitazone can inhibit NF-κB and AP-1 protein expression in lung tissue, reduce the levels of IL-1β and TNF-α in serum after PQ exposure, and exert an inhibition effect on inflammation in PQ-induced lung injury of rats.

Objective To investigate the effectiveness of target intervention in preventing catheter -related bloodstream infection ( CRBSI ) .Methods The targeted monitoring was launched by changing venepuncture site , reinforcing instructions in aseptic insertion technique and hand hygiene supervision ,avoiding femoral access and remo-ving unnecessary catheters ,venous puncture implemented by high qualification anesthesiologist ,then the incidence of CRBSI before and after the project was compared .Results The incidence of CRBSI after the project decreased signif-icantly from 17.97%to 4.32%,the difference was statistically significant (χ2 =40.82,P<0.05).Chi-square test and logistic regression analysis showed that the incidence of infection was increased in patients with catheter for longer than 10 days (χ2 =4.33,P<0.05),the incidence of CRBSI was decreased in patients that central venous puncture implemented by high qualification anesthesiologist (χ2 =9.21,P<0.05),and patients received catheter indwelling into femoral vein had increased incidence of CRBS (χ2 =7.45,P<0.05).Conclusion Indwelling catheter time, unskilled operator ,catheter site are risk factors in patients with CRBSI .In response to these factors ,we should develop interventions to maximize establish a protective barrier , improve the quality of the medical operation , prevent the occurrence of CRBSI more efficiently .

ObjectiveTo explore the value of immuomagnetic beads(IMB) technique for detection of intraperitoneal free cancer cells from colorectal cancer.MethodsPeritoneal lavage fluid was obtained from 80 patients with colorectal cancer during laparotomy.Peritoneal lavage cytology (PLC) and IMB were used to detect free cancer cells in peritoneal lavage fluid.10 patients with hysteromyoma during laparotomy were enrolled into the control group.ResultsThe positive rate of PLC was 8.8％ (7/80),the positive rate of IMB was 28.8％ (23/80).The positive case after useing PLC detect,IMB detect also was positive.The detected samples of control group were negative by these two methods.IMB was superior to PLC ( x2 =10.503,P =0.001 ).ConclusionIMB was more sensitive and specific than PLC,which could provide a effective method for finding intraperitoneal free cancer cells.

Objective To explore the effect of carbohydrate administration on postoperative insulin resistance after gastroenteric tumor resection.Methods Sixty elective gastroenteric tumor resection patients were divided into observation group and control group by random number table method,with 30 cases in each.Observation group was given carbohydrate administration before surgery,that was 2 h before anesthesia oral carbohydrates 300 ml containing 50 g glucose;control group was treated according to the traditional methods,preoperative fasting 12 h,6 h forbidden to drink.The blood samples were collected to measure the levels of fasting blood glucose (FBG) and fasting insulin (FINS) at 3 h before operation and 1,3,7 d postoperation respectively.Homeostasis model assessment (HOMA) was applied to calculate the insulin resistance index.Results The levels of FBG,FINS,HOMA-IR at 1,3 d postoperation in two groups were significantly higher than those at 3 h preoperation [observation group:(10.65 ± 1.78),(7.32 ± 1.48) mmol/L vs.(5.09 ±0.43) mmol/L,(25.78 ± 12.43),(16.23 ±7.56) mU/L vs.(10.48 ± 1.57) mU/L,11.67 ±6.32,5.12 ± 2.11 vs.2.35 ± 0.54;control group:(11.18 ± 1.25),(8.04 ± 1.53) mmol/L vs.(5.12 ± 0.39) mmol/L,(39.67 ± 10.37),(24.34 ± 6.78) mU/L vs.(9.98 ± 2.04) mU/L,19.07 ± 5.49,8.56 ± 2.87 vs.2.28 ± 0.39](P ＜ 0.05).The levels of FINS,HOMA-IR at 1,3 d postoperation in control group were higher than those in observation group (P ＜ 0.05).The levels of FINS and HOMA-IR at 7 d postoperation in observation group were returned to the 3 h preoperative (P ＞ 0.05),while the levels in control group [(16.32 ± 4.56) mU/L,3.87 ± 1.12] was still higher than those at 3 h preoperation (P ＜0.05).Conclusion Carbohydrate administration may shorten the insulin resistance durion after gastroenteric tumor resection,and reduce the intensity of insulin resistance,thus contributing to the rehabilitation of patients.