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.

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

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.

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.

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.

The effects of ATP-sensitive mitochondrial K(+) channel (mitoK(ATP)) on mitochondrial membrane potential (Δψm), cell proliferation and protein kinase C alpha (PKCα) expression in airway smooth muscle cells (ASMCs) were investigated. Thirty-six Sprague-Dawley (SD) rats were immunized with saline (controls) or ovalbumin (OVA) with alum (asthma models). ASMCs were cultured from the lung of control and asthma rats. ASMCs were treated with diazoxide (the potent activator of mitoK(ATP)) or 5-hydroxydencanote (5-HD, the inhibitor of mitoK(ATP)). Rhodamine-123 (R-123) was used to detect Δψm. The expression of PKCα protein was examined by using Western blotting, while PKCα mRNA expression was detected by using real-time PCR. The proliferation of ASMCs was measured by MTT assay and cell cycle analysis. In diazoxide-treated normal ASMCs, the R-123 fluorescence intensity, protein and mRNA levels of PKCα, MTT A values and percentage of cells in S phase were markedly increased as compared with untreated controls. The ratio of G(0)/G(1) cells was decreased (P<0.05) in diazoxide-treated ASMCs from normal rats. However, there were no significant differences between the ASMCs from healthy rats treated with 5-HD and the normal control group. In untreated and diazoxide-treated ASMCs of asthmatic rats, the R-123 fluorescence intensity, protein and mRNA levels of PKCα, MTT A values and the percentage of cells in S phase were increased in comparison to the normal control group. Furthermore, in comparison to ASMCs from asthmatic rats, these values were considerably increased in asthmatic group treated with diazoxide (P<0.05). After exposure to 5-HD for 24 h, these values were decreased as compared with asthma control group (P<0.05). In ASMCs of asthma, the signal transduction pathway of PKCα may be involved in cell proliferation, which is induced by the opening of mitoK(ATP) and the depolarization of Δψm.

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 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.

Objective To explore the surgical treatment for acute ulceration of gastric carcinoma.Methods The clinical data of 68 patients with ulceration of gastric carcinoma were analyzed retrospectively.All the cases,60 male patients and 8 females with average age of 58 years,were admitted from Jan.1990 to Jan.2007,and divided into three groups randomly,i.e.repair gastrectomy group(control,n=27),partial gastrectomy group(n=21) and radical cure group(n=20).Of the 68 patients,30 cases were diagnosed as ulceration of gastric carcinoma before surgical operation,25 cases were diagnosed as suspected ulceration of gastric carcinoma and 13 cases were misdiagnosed as gastric ulcer.All the cases were undergone operation.The ulcerations located at the superior part(6 cases),middle part(12 cases) or inferior part(50 cases) of stomach.38 cases were on Borrmann Ⅱ,and the other 30 cases were on Borrmann Ⅲ.The postoperative survival time of the patients in partial and radical gastrectomy groups was compared with that of the patients in repair group.Results Twenty-seven patients underwent repair of ulceration;21 patients received partial gastrectomy and 20 received radical gastrectomy(R2 distal subtotal gastrectomy 8 cases,R3 distal subtotal gastrectomy 12 cases).Postoperative complication occurred in 7.4% of the total cases and the mortality was 5.9%.One-,3-and 5-year survival rates were 3.7%,0 and 0 in repair gastrectomy group;52.4%,23.8% and 0 in partial gastrectomy group;and 75.0%,55.0% and 10% in radical cure group.Their Survival time were 5.93?4.95 months in repair gastrectomy groups,28.33?16.44 months in partial gastrectomy groups and 35.25?20.36 months in radical cure groups,respectively(P

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.