Objective To identify PRKAR1A mutations in a pedigree with Carney's complex through clinical investigation and molecular biology research,and to summarize the genetic law,characteristics,and clinical features of this family disease.Methods The family members received a detailed medical examination and related biochemical tests.The hereditary history and clinical features were recorded.DNAs of 12 family members were extracted from blood and 9 exons and adjacent introns of PRKAR1A were sequenced.Results PRKAR1A mutation intron4 c.440+4 delG was identified in 7 family members,including the proband's patient,who presented special signs of pigmentation on the lips,buccal mucosa,and fingertips.Conclusions The deletion mutation (c.440+4del G) in intron 4 of the PRKAR1A gene was found in this family,which is possibly associated with the phenotype skin pigmentation.

10.3969/j.issn.2095-4344.2013.24.010

Objective To investigate the infection situation of intestinal nematodes and knowledge about the prevention and control of intestinal nematodiasis,so as to explore the effective control measures in Jingjiang City. Methods The towns where more floating people lived were randomly selected and the infection situation of intestinal nematodes was investigated with Kato-Katz method,and the residents'awareness of the prevention and control of nematodiasis was surveyed with questionnaires. Re-sults From 2013 to 2015,totally 4555 local residents and 2278 floating people were investigated in Jingjiang City. The infec-tion rate of intestinal nematodes was 0.29%(13 cases)in the local people,while the rate was 0.75%(17 cases)in the floating people,and the difference was significant(χ2=7.380,P<0.01). The differences of the intestinal nematode infection rates be-tween sexes in both local residents and floating people were not significant(χ2=0.010,0.048,both P>0.05). The awareness rate of intestinal nematodiasis prevention and control of the local residents was significantly higher than that of the floating peo-ple(χ2 =9.649-164.533,all P<0.01). Conclusion The floating people is the focus of intestinal nematodiasis control,and the health education of ancylostomiasis control should be strengthened in Jingjiang City.

The possibility of polyoxymethylene (POM) as heart valve leaflet material was investigated by comparing the hemocompatibility with that of 316L stainless steel and low-temperature isotropic pyrolytic carbon (LTIC). Surface hydrophobicity was characterized by water contact angle measurement. Platelet adhesion, APTT/PT/TT and hemolysis rate tests were applied for evaluating hemocompatibility. The results showed that POM was hydrophobic and had a low hemolytic rate, adhesion amount and activation degree of platelets on POM surface were less than 316L stainless steel, and was similar to LTIC. This research pointed out potential application of POM as heart valve leaflets.
Biocompatible Materials ; chemistry ; Blood Platelets ; Carbon ; chemistry ; Heart Valve Prosthesis ; Heart Valves ; Humans ; Platelet Adhesiveness ; Resins, Synthetic ; chemistry ; Stainless Steel ; chemistry

Objective To investigate the effect of JNK signal pathway in acute necrotizing pancreatitis (ANP) associated lung injury.Methods A total of 24 SD rats were randomly divided into sham group and ANP group,ANP rats were induced by retrograde injection of 5％ sodium taurocholate into common bile duct.The rats were sacrificed 12 and 24h later,and the pancreas and lung tissue were resected and underwent routine pathologic examination,ELISA method was used to detect the level of TNF-α and IL-1β in lung tissue.Expression of JNK mRNA was detected by real time PCR,and the expression of JNK protein were evaluated by Western blotting.Results There was bleeding,necrosis,large amount of inflammatory cells infiltration in pancreatic tissue; and there was edema,pulmonary consolidation,interstitial edema,inflammatory cells infihration in lung tissue in ANP group.The levels of TNF-α and IL-1β,JNK mRNA,JNK protein,phosphorylation JNK were ( 374.3 ± 124.0) pg/ml,(649.0 ± 114.9) pg/ml,2.57 ± 0.76,1.40 ± 0.81,0.81 ± 0.20 in ANP group,which were significantly higher than those in with sham group[( 218.2 ± 68.4)pg/ml,(524.3±58.4)pg/ml,1.03±0.11,0.32±0.11,0.32±0.11,P＜0.05].Conclusions JNK signal pathway plays an important role in experimental ANP associated lung injury in rats.

Objective To evaluate the effects of L-alanyl-L-glutamine (LALG) intensified parenteral nutrition support in advanced malignant carcinoma patients.Methods 68 patients were randomly divided into two groups,control group (n =34) received only parenteral nutrition,treatment group (n =34) received parenteral nutrition combined with a dose of 0.3 g ·(kg·d)-1 LALG.Nutrition status and immune functions were determined at pre-therapy and 15th days after therapy.Results After the therapy,the pALB and TRF of treatment group were significantly increased [(24.9±8.06) mg/dl vs (27.3±6.05) mg/dl; (1.62±0.43) g/L vs (2.06±0.32) g/L].Before therapy,no significant change in IgA,IgM and IgG was found in two groups (P ＞ 0.05).After the therapy,IgA and IgG of the treatment group after the therapy were significantly different from those before the therapy [(2.85±1.43) mg/L vs (3.63±5.36) mg/L; (0.95±0.43) mg/L vs (1.13±0.09) mg/L],IgA,IgM and IgG of the control group had no difference compared with those before the therapy (P ＞ 0.05),CD4+ of treatment group was significandy different compared with those of control group [(39.19±4.23) ％ vs (36.62±3.58) ％] (P ＜ 0.05).There is no significantly difference between CD:/ CD8+ CD8+ of treatment group and those of control therapy (P ＞ 0.05).After therapy,the score of quality of life in treatment group was higher than that in control group (P ＜ 0.05).Conclusion LALG intensified parenteral nutrition has better effects on improvement of the nutrition and immune functions.

Objective To explore the diagnosis value of X-ray breast imaging reporting and data system (BI-RADS) combined with wire-guided localization biopsy for breast microcalcifications in impalpable breast cancer.Methods 192 palpation negative patients with 205 microcalcification lesions were detected by mammography.All lesions were classified according to BI-RADS descriptors for calcification and were categorized by the BI-RADS.The patients with BI-RADS category 4a and above underwent X-ray positioning guide wire-guided biopsy and pathological diagnosis.Results In 205 microcalcification lesions,74 (36.1％) were malignant lesions,131 (63.9 ％) were less than benign lesions.The positive predictive value of malignant breast lesions in clustered,segmental,regional linear branching calcifications were higher [83.3 ％ (5/6),100.0 ％ (11/11),100.0 ％ (1/1)],followed by clustered,linear,segmental,regional pleomorphic calcifications [55.9 ％ (38/68),50.0 ％ (1/2),40.0 ％ (8/20) and 33.3 ％ (4/12),respectively].The positive predictive values of malignant in linear branching calcifications and pleomorphic calcifications were significantly higher than those of coarse heterogeneous calcifications,amorphous or indistinct calcifications (x2 values were 34.44,51.87,16.71,29.86,all P ＜ 0.05).The linear branching calcification had the highest possibility.The proportions of malignant lesions in four different types of glands were extremely dense 40.5 ％ (30/74),heterogeneously dense 39.2 ％ (29/74),scattered areas of fibroglandular density 10.8 ％ (8/74) and fat 9.5 ％ (7/74),respectively.Conclusions BI-RADS categorization for breast microcalcification lesions can improve the detection rate of impalpable breast cancer.Linear branching calcification has higher predictive value for malignant lesions.Dense breast is the risk factors of breast cancer,which should be attached great importance.

Objective To investigate the feasibility, safety and efficiency of endovascular treatment for patients with aorto-bilateral-iliac artery total occlusive disease.Methods A total of 35 patients with aorto-bi-iliac artery total occlusive disease treated with endovascular therapy in Peking Union Medical College Hospital and the First Hospital of Shijiazhuang between Jan 2012 and Dec 2013 were retrospectively analyzed.Results There were 33 males and 2 females, mean age (67 ± 6) years treated during the study period.Technical success rate was 100％.129 bare stents and 4 covered stents were implanted.There were no peri-operative death.Postoperative leg ankle brachial index (ABI) improved significantly (0.86 vs.0.28, P ＜ 0.28).Postoperative complications occurred in 2 patients (5.7％), including brachial artery thrombosis and rupture of external iliac artery post-dilation.The mean follow-up period was 16.5 months (2-28 months).Two patients (5.7％) were lost to follow up.Re-intervention was performed in 3 patients (8.6％) due to reocclusion of the stents.Primary patency was 91％ (30/33) Conclusions Endovascular treatment is effective for aorto-bi-iliac artery total occlusive disease with low complications and acceptable mid-term patent rate.

Objective To understand the source of knowledge on schistosomiasis prevention and control and the acceptable degree on different propagation patterns of population in Jingjiang City after schistosomiasis transmission?interrupted,so as to provide the evidence for the production of suitable materials for health education. Methods The permanent residents,floating population as well as the primary school students in Grade 5 and 6 in riverside regions in Jingjiang City were selected as the in?vestigation objects,the information propagation condition and the knowledge source,and the expected propagation patterns were investigated by questionnaires. Results The popularizing rates on the television,computer and mobile phone of the villag?ers were 99.81%,84.16% and 87.78%,respectively. Both the two investigated schools had the independent TV network,broad?cast and multimedia,and all the computer classroom could connected to Internet. The main sources on schistosomiasis control of permanent residents and floating population were folders and the exhibition board(62.0% and 40.5% respectively),the substan?tial material(42.0% and 33.5% respectively)and TV(40.5% and 36.0% respectively),while those of the students were video CD(100%),substantial material(99.5%)and folders and the exhibition boards(84.2%). The propagation ways with high ac?ceptable degrees among the residents and floating population were substantial material,folders and the exhibition boards and short messages by mobile phone,while those among the students were video CD,substantial material,folders and the exhibition boards. Conclusion The material on health education should be targeted to the demands of the different populations and their condition of information propagation,in addition,the Internet material should be developed and the communicational channels should be broaden.

Objective To discuss the relationship between lung function before and after radiotherapy and radiation-induced pneumonitis in locally advanced non-small-cell lung cancer.Methods 76 patients were evaluated by pulmonary function tests before radiotherapy and in 1 month and 3 month after radiotherapy respectively.Results All patients were treated radiotherapy with irradiation dose of 60-70 Gy,the radiation pneumonitis occurred in 26 patients (group A),22 patients were grade 1,3 patients were grade 2,1 patient grade 3 and no patient was grade 4 and 5.50 patients without radiation pneumonitis were group B.There were significant difference between group A and group B for FEV1 before radiotherapy [(51.67±19.03) ％,(69.03± 14.54) ％,t =2.34,P ＜ 0.05].There were no significant difference between in 1 month and 3 months after radiotherapy for FVC (P ＞ 0.05).There was significant difference between in 1 month and 3 months after radiotherapy for DLCO (group A,P ＜ 0.01; group B,P ＜ 0.05).Conclusions For locally advanced non-small-cell lung cancer patients,the lower of FEV1 before radiotherapy inclineds to develop radiation pneumonitis,DLCO levels are lower significantly in patients prones to radiation pneumonitis.FEV1 and DLCO are sensitive indicators to predict radiation pneumonitis.