DNA repair defects are classified as combined immunodeficiencies with associated or syndromic features,including 8 kinds of diseases with mutation of 9 pathogenic gene (ATM,MRE11,NBS1,BLM,RNF168,DNMT3B,ZBTB24,PMS2,MCM4),which are mainly autosomal recessive and monogenic inheritance.This article mainly reviews the pathogenesis,clinical manifestation,immunophenotype,and diagnosis of these diseases.

Objective To estimate the arterial-to-end-tidal carbon dioxide tension difference (Pa-ET CO 2 )in children with cyanotic or acyanotic congenital heart diseases;evaluate whether hyper-ventilation can reduce the tension difference or not;analyze the effect of sevofleurane on Pa-ET CO 2 . Methods One hundred and twenty patients (male 60 cases,female 60 cases,aged 1 month-6 years, ASA class Ⅱ or Ⅲ)undergoing selective cardiac surgery were randomly divided into 6 groups (n =20 each)based on right-to-left or left-to-right intracardic shunts:group A1,cyanotic with sevoflurane of 0.5 MAC;group A2,cyanotic with sevoflurane of 1.0 MAC;group B1,acyanotic with sevoflurane of 0.5 MAC;group B2,acyanotic with sevoflurane of 1.0 MAC;group C1,cyanotic with no inter-vention factors;group C2,acyanotic with no intervention factors.All the children received general an-aesthesia after placing an intravenous and arterial catheter.The value of PET CO 2 ,SpO 2 ,PaCO 2 , SaO 2 ,Hct and temperature(nasopharyngeal temperature and rectal temperature)were obtained before operation,after hyperventilation(the control groups without hyperventilation)and five minutes before surture sternum.Results The values of Pa-ET CO 2 were more than the normal one in six groups before operation.The value of Pa-ET CO 2 in group B1 was less than that in group A1,that in group B2 was less than that in group A2 and that in group C2 was less than that in group C1 before operation (P <0.01).Compared with the time point before operation,the values of Pa-ET CO 2 in groups A1,A2,B1 and B2 decreased significantly after hyperventilation (P < 0.05 or P < 0.01 ).Moreover, this reduction was more significant in groups B1 and B2.Compared with the time point before operation, the values of Pa-ET CO 2 in groups B1,B2,C2 increased significantly (P <0.01)and that in groups A1, A2,C1 decreased significantly (P <0.05)at 5 minutes before surture sternum.There was no statisti-cal difference at three different time points between group A1 and A2,B1 and B2.Conclusion The value of Pa-ET CO 2 in cyanotic children increased more significantly than that in acyanotic children.Hy-perventilation can reduce the value of Pa-ET CO 2 especially in acynanotic children with pulmonary con-gestion.The concentration (from 0.5 MAC to 1.0 MAC)of sevoflurane had little effect on the value of Pa-ET CO 2 .

Objective　This study was To investigate the incidence rate of Cockett syndrome and relationship between Cockett syndrome and varicose veins and deep venous incompetence of the left lower extremities.Methods　73 patients(100 legs) with varicose veins of the lower extremities were investigated by descending deep venography and iliography preoperatively.Results　There were 35(47.9%) cases with abnormalities of the left common iliac vein (ALCIV)in all the cases.There were 31 cases with this conditions in the patients with varicose veins of the left or both lower extremity.While in the patients with varicose veins of the only right lower extremity,there were only 4 cases with ALCIV.In contrast,there was a significant difference between groups(χ2=9.8641,P=0.0017).In the patients with ALCIV,14 cases with Ⅲ or Ⅳ grade of deep venous incomptence were found, and only 6 cases with deep venous incompetence in the patients without ALCIV.There was a significant difference(χ2=5.3688,P=0.0205).Conclusion　Cockett's syndrome frequently occurs in varicose veins of the left lower extremity.There is a relationship between them.Cockett's syndrome might be one of the causes for the deep venous incompetence of the left leg.

Traditional atraumatic restorative treatment(ART) induces more successive diseases in the treatment of deciduous caries. Ignoring the disinfection and caries-affected dentin's remineralisation are the main reasons of such problem. Nowadays, Ozone-Remineralisation therapy has become one of the steps before restorative treatment. However, there is no quantitative standard to evaluate this therapy. Some researches had shown that the laser-fluorescent device (DIAGNOdent, Dd) has the advantages in monitoring caries treatment. We use DIAG-NOdent to monitor the effect of OZone-Remineralisation therapy before filling the restoration in the caves in this study, however, the results is delievered that DIAGNOdent has little advatages in monitoring the effect of this new therapy, because the data of DIAGNOdent had a large fluctuation.

Acupuncture Points ; Adult ; Combined Modality Therapy ; Female ; Humans ; Male ; Medicine, Chinese Traditional ; Middle Aged ; Urticaria ; therapy

Objective To study the pattern of intragastric acid secretion in bleeding ulcer patients to assess the role of gastric acid suppression in the prevention and treatment of ulcer bleeding.Methods 43 cases of peptic ulcer(PU) with ulcer bleeding and 53 cases of age-and sex-matched PU controls without ulcer bleeding were included. All patients received 24 hours gastric pH monitoring. PU was diagnosed by endoscopy. Hp infection was diagnosed by rapid urinase test, biopsy and C 13 breath test.SPSS software was used for statistic analysis.Results In bleeding group, average gastric pH in supine was 1 6,and the percent of accumulative time and the longest lasting time within 0～1 of gastric pH in supine were 21% and 26 0 minutes respectively,while in control group those were 2 0%, 4 5 minutes respectively.However, no differences of gastric pH were found between severe bleeding patients and other bleeding ones. Hp infection rate was 56 1%,54 8% in bleeding group and control group respectively.Conclusions Multiple factors might induce peptic ulcer bleeding. Higher gastric acid secretion at night might be one of the risk factors causing peptic ulcer bleeding.It is suggested that giving PU patients with a high risk of bleeding some acid inhibitor before sleeping may prevent PU hemorrhage. Hp infection may be the direct risk factor leading to ulcer bleeding.

Objective To explore the clinical diagnositic code(CDC)in ovarian endometrial cysts (OEC).Methods 218 cases of pelvic masses were investigated by use of symptoms,signs,B mode sonography and CA125.172 cases were diagnosed with OEC out of 218 cases,While 46 cases were ruled out by combination exploratory laparotomy and laparoscopy.Meanwhile we compared it with revisional american fertility society(r-AVS)including diagnosis and staging.Results The operation results of 218 cases were compared with the results of CDC and its Diagnositic Sensitiveness;Specificness;Positive predictive value;Negative predictive value;Diagnositic accordance rate as well as Diagnositic index of CDC were 96.4%,79.6%.93.0%,90.0%,91.7% and 73.4% respectively(χ2=127.818,P＜0.001).Further more,172 cases of OEC which diagnosed with CDC were further subdivided into three stages as 1,2,3 according to its score,mild;moderate;heavy and this stage category were compared with the category of AFS(Ⅰ-Ⅱ,Ⅲ,Ⅳ),the Diagnositic accordance rate of two categories were 95.6%,95.6% and 83.0% respectively,No significant difference were found in Var.mitis and medium-sized(χ2=0,P＞0.05).but the Medium-sized and Gravis tape was significance(χ2=4.472,P＜0.05).Conclusion CDC has a better coincidence with operation in the diagnosis of OEC which can be used in the non-traumatic diagnosis and staging of OEC in clinic.

0.75).Conclusions The method of single-slice and multi-slice TSE sequence in T_2 measurement is feasible.For bone marrow and extremely long T_2 tissue(for instance,cerebrospinal fluid),however,there may be considerable discrepancy on T_2 values obtained by TSE sequence.

Objective:To summarize the current policies and measures in curbing health corruption in China, and to evaluate the implementation results of these policies and measures.Methods:We made a systematic review to search and screen the literatures, with related thematic information extracted, compared and classified to form an integrated view by the data integration method of thematic synthesis.Results:A total of 147 literatures were included, covering such health policies and measures as the basic drug system, the centralized bidding and purchasing and centralized drug purchasing, the " two-invoice system" , hospital information disclosure system, adverse records of commercial bribery, doctor′s virtue evaluation system and no bribery agreement. These five policies and measures prove effective in curbing the corruption, but some types of corruption tend to evade such restrictions.Conclusions:The five types of policy measures summarized in the study have effectively curbed the high risk exposure of corruptions found in drugs, medical consumables and medical devices, and also guided and restrained the profit-oriented behaviors of the behavior subjects. Stronger measures should be integrated into a broader reform of the healthcare system, in combination with institutional compensation and operational mechanism reform, medical personnel compensation and incentive system, and modern pluralistic governance reform. Meanwhile, studies in the field of corruption need to focus on the direct and indirect effects of multi-level medical reform policies on corruption governance from an integrated perspective, while attention needs to cover more types of corruption behaviors, and to diversify research methods, so as to provide more practical policy support.

Objective To investigate the effect of Problem- based Learning (PBL) applied in the course of Activities of Daily Living (ADL) Skills and Environmental Adaptations. Methods PBL (PBL class) and traditional teaching (traditional class) were applied in different classes. Their scores of the final examination were compared, and the students were investigated with the questionnaire. Results The scores of final examination were higher in the PBL class than that in the traditional class (P<0.05). Most of the students accepted the PBL in the course. Conclusion PBL can improve the quality of teaching of occupational therapy.