Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that has an impact on many organ systems.It is a common neurocutaneous syndrome in children, the main clinical manifestations characterized by impairment of skin and nervous system.The most frequent neurological symptoms are seizures,which occur in up to 90％ of patients and often are intractable,followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep, et al.Conventional treatment has frequently proven insufficient for neurological and behavioral symptoms, particularly seizure control.Currently, there are many studies focus on the mechanism-based treatment in TSC.Therefore, this review will focus on the genetic mechanism of TSC, further exploring personalized medicine and prognosis for TSC shows good prospects.

OBJECTIVE:To provide reference for small interfering ribonucleic acid (SiRNA) R&D and registration in China. METHODS:The situation of SiRNA R&D at home and abroad were introduced,and problems encountered in the evaluation and approval process were summed up to put forward suggestions. RESULTS & CONCLUSIONS:SiRNA has developed slowly in Chi-na,with a gap of 5-10 years at least compared with foreign developed countries. The registration category of SiRNA is not clear;applicants lack of guidance documents;production workshop which meet requirement is in shortage;the efficiency of drug registra-tion allows of no optimism. It is recommended that pharmaceutical registration departments carry out the pilot reform for SiRNA registration,publish SiRNA registration guide,relax regulations for IND gradually,encourage applicants to participate in the inter-national multicenter clinical trials in order to improve the efficiency of SiRNA evaluation and approval efficiency.

Covered in the paper are reform efforts made by the hospital on the HIS system amid the pilot programs total prepaid and mcdicine-drug separation trials in Beijing.Findings of the programs revealed defects of the HIS system,for example measures for refusal of payment of non-compliance items,and real-time reimbursement for patients.In view of these setbacks,the hospital made further attempts to the system in such aspects of the fundamental maintenance,rational drug usage and new problems,for the purpose of successful completion of the pilot programs at the hospital.Discussions were also made as to how to adapt the HIS system to total prepaid and the separation reforms,aiming at helping those not yet initiated with the reforms,and the information sharing of patient diagnosis/treatment records and social insurance payment at all hospitals in Beijing.

Objective To compare the effectiveness of the forced-air warming system and the conventional warming care practice in preventing hypothermia in patients undergoing major surgeries.Methods A total of 62 patients were enrolled in this study. Patients of both sexes,aged≥18 years,and with an ASA physical status Ⅰ-Ⅲ were included and allocated randomly into intervention group(n=30)or control group(n=32). Patients in the intervention group were provided forced-air warming,either prior to induction or during the surgery procedure depending on core temperature monitoring results. In the control group,patients were warmed with conventional warming care without any intervention. Core temperature was measured by Spot-On sensor and tympanic membrane thermometer,blood pressure,the electrocardiogram,heart rate,pulse oxygen staturation,and partial pressure of end-tidal COwere also monitored continuously in the two groups.Crystalloid,colloid,and allogeneic blood were also recorded by strict protocol. Results Intraoperative hypothermia monitored with tympanic thermometer was observed in 23 patients(71.87%)in the control group,which was significantly higher than that (0) in the intervention group(P=0.00). In addition,the incidence of hypothermia monitored by Spot-On sensor was 81.25%(n=26)in control group and 13.33%(n=4)in intervention group(P=0.00). Conclusion Compared with the conventional warming care,forced-air warming system is more effective in preventing hypothermia during major surgeries.

Cone-bine CT(CBCT)images of 2 130 maxillary third molars were divided into 3 groups according to the impaction position. The relationship between the floor of maxillary sinus and the roots of maxillary third molar was analyzed and compared.In low,median and high impaction groups the probability of the root tip of maxillary third molar higher than the floor of maxillary sinus was 4.5%,10.3% and 14.6% respectively.

Objective To longitudinally analyze the unit costs and technical efficiency of the model of male circumcision in the different kinds of persons .Methods Unit costs were calculated by the person and period using longitudinal data from 3 kinds of persons ,and then technical efficiency and Malmquist indices were measured with an approach to data envelopment analysis . Results Theunit costs for changing the willingness to accept surgery changed dramatically ,decreasing from 7 166 .67 yuan(mean) to 737 .31 yuan ,while the costs for changing the ratio of the surgery increased from 666 .64 yuan (mean) to 744 .58 yuan ,and its technical efficiency was averaging between 0 .95-0 .96 .Conclusion The time series of unit costs for changing the willingness to ac-cept surgery dramatically dropped ,while changing the ratio of the surgery formed a U-shape curve with an inflection point before which unit costs dramatically dropped and another inflection point beyond which unit costs went up .These findings can inform pro-gram managers of the changing unit costs when extending or expanding the program .

Diagnostic Errors ; Humans ; Myoclonus ; diagnosis ; Tics ; diagnosis

The health information social service in medical college and university libraries was analyzed in terms of the importance attached to it, opening to readers, items of service, requirement of materials, types of readers, and charge of frees, and certain measures were proposed for improving the level of health information social service, such as updating the service concept, innovating the service, and standardizing the management.

Objective To provide an anatomic data of the lumbar isthmus, and to increase the fusion rate of the graft bone for spondylolisthesis treated with posterolateral spinal fusion and Steffee plate fixation. Methods The area and volume of the bone graft bed for posterolateral spinal fusion in the lumbar isthmus were studied on 30 dried specimens of adult lumbar spines from L 1 to L 5(a total of 150 lumbar vertebrae) with a vernier calipers, a goniometer and a graduate. Results The length of the superior edge of the isthmus gradually increased from L 1[(7.34? 1.15) mm] to L 5[(10.31? 1.89) mm], and that of its inferior edge progressively decreased from L 1[(6.63? 1.24) mm] to L 5 [( 4.73? 1.21) mm]. The superior edge of the isthmus was the thinnest at L 1[(1.85? 0.64)mm], and the thickness increased inferiorly from L 1[(6.57? 1.24) mm] to L 5[(7.57? 1.16) mm]. The medial and caudal inclination of the isthmus with respect to the pedicle gradually increased from L 1 (113.9?? 13.3? ) to L 5(119.1?? 13.5? ) medial inclination and from (101.2?? 9.5? ) at L 1 to (117.6?? 13.4? ) at L 5 caudal inclination, respectively. The length of the superior edge of the isthmus and the transverse diameter of the pedicle were positively correlated to the vertebral levels. The length of the inferior edge of the isthmus were negatively correlated to the vertebral levels. The dimensions of the graft bed area were postively correlated to dimensions of the graft bone volume. Conclusion The application of firm spinal internal fixation system with adequate graft bed area and adequate graft volume, the maintenance of close contact between the graft bed and the graft bone, and adequate period of postoperative stable contact of the graft in bed were the keys to enable reduction of the spondylolisthesis and to increase the fusion rate of posterolateral bone graft.

Objective To provide the anatomical basis for treatment of comminuted fractures of the radial head with bending steel miniplates by observations of the proximal end of the radius (PEOTR) in adults and to investigate the effect of its application. Methods The PEOTR and the dynamic relationship between the articular circumference of the radial head and the ulnar radial notch were studied with 32 pairs of specimen of the dried radii and ulnae in adults. From Jan 1988 to Mar 1998, eleven cases of comminuted fractures of the radial head were treated with bending steel miniplates procedure; there were seven males and four females, with an average age of 35 years. According to Mason's grading, 9 cases were classified as Type Ⅲ radial head fractures, 2 cases as Type Ⅳ radial head fractures. Results The average length of the PEOTR was 41.6 mm. The radial neck deviated from the radial shaft at an angle of 164?. Then at the neutral position, the greatest range of pronation and supination of the forearm, the range of contact of radians and the range of non contact radian between the articular circumference of the radial head and the ulnar radial notch were 69?,108?,45? and 138?, respectively. The period of follow up in all cases was 20-38 months. All had bony union, with an average healing time of 8.5 months. Evaluation was done according to the criterion made by Broberg and Morrey. The result was excellent in 6 cases, good in 4 cases, and fair in 1 case. Conclusion The treatment of comminuted fractures of the radial head with bending steel miniplates is a safe and effective method.