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　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 assess the diagnostic value of CT and MRI findings of toxoplasma encephalitis among AIDS patients.Methods CT and MRI findings of toxoplasma encephalitis were retrospectively studied in 17 AIDS cases.Results The lesions were bilateral and multiple,involving basal nuclei in 12 cases,thalamus in 3 cases,bilateral cerebral hemispheres near corticomedullary junction in 1 case,and cerebellum and brain stem in 1 case.The lesions showed weak hypodensity on CT,and long T 1 and long T2 signal intensity on MRI,with marked peripheral edema effect.After contrast administration,the small ring or twist and target enhancement was seen in 12 cases,large ring enhancement-in 1 case.multiple focus in 15 cases and single focus in 2 cases;MRI was more sensitive in detecting a largest number of cerebral lesions than CT.Conclusion More small ring and twist,nodular,target enhancement are highly suggestive of toxoplasma encephalitis in the basal nuclei.Both CT and MRI are effective in diagnosing toxoplasma encephalitis,but MRI imaging without and with gadolinium is more sensitive than CT in the detection of toxoplasma encephalitis;MRI imaging may reveal a greater number of lesion when it is positive and so the detection rate of MRI is higher than that of CT.

BAFF is an essential ligand essential for survival and differentiation of peripheral B cells. By interacting with three receptors, BAFF can promote B cell maturation and class switching, enhance humoral immunity and T cell co-stimulation. Over-expression of BAFF leads to autoimmune diseases such as systemic lupus erythematosus (SLE) in mouse model. Treating the mice model with BAFF antagonists can slow-down disease progression and enhance survival rate. Moreover, in some SLE patients serum level of BAFF is elevated and correlated with serum anti-dsDNA titer. The preliminary clinical trial of anti-BAFF monoclonal antibody has shown to be safe and effective. BAFF antagonists are promising therapeutic drugs for SLE.

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: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 relation of event-related potentials (ERPs), which are evoked by calculating and number recognizing stimuli.Methods We examined 26 healthy undergraduate students with double-digit (Arabic numbers) and single-digit modify a prescription problems. While the stimulus information was presented, electroencephalogram (EEG) was recorded simultaneously. ERPs were extracted from EEG data, and then the feature and source of ERPs were analyzed.Results Both calculation and number recognizing induced positive and negative components of ERPs with similar wave form and different latency. The latency of ERPs was conspicuously shorter elicited by number recognizing than by calculating. Grand mean mapping showed the highest amplitudes of ERPs were presented in parietal lobe elicited both by calculating and number recognizing.Conclusion The processing of calculating is more complicated than number recognizing. Calculating and number recognizing may have different electrophysiological background, and they belong to diverse processing course in the brain. Parietal lobe is the functional domains of them.

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.