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

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.

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.

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 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 .

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.

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.