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<p><b>OBJECTIVE</b>To screen potential mutation of the CRELD1 gene in congenital atrioventricular septal defect (AVSD) and explore its functional implications.</p><p><b>METHODS</b>Fragments encompassing the 11 coding exons of CRELD1 gene, including at least 50 bp of flanking intronic regions, were amplified with PCR and subjected to DNA sequencing. Results of sequencing were compared with predicted sequence from the GenBank database. Eukaryotic expression vector pcDNA3.1CRELD1 containing the mutational sequence was constructed. Western blotting and real-time fluorescent quantitative reverse transcription polymerase chain reaction (FQ RT-PCR) was applied to examine the expression of CRELD1, Tenascin C and Aggrecan.</p><p><b>RESULTS</b>C857G was identified in a girl with an isolated partial AVSD. The mutation has resulted in a substitution of Alanine for Proline at amino acid 286 in the first cbEGF domain. Western blotting and FQ RT-PCR confirmed that the P286R missense mutation has been a gain-of-function mutation. Compared with the unloaded control, the Aggrecan mRNA expression was downregulated for both wild-type and mutant type samples (t=140.27 vs. 26.36, P < 0.01). The downregulation was more significant in mutant type (t=25.69, P=0.002). There was no significant difference of the Tenascin C expression between wild-type and the unload control (t=1.167, P> 0.05), whilst the Tenascin C expression was up-regulated in mutant type (t=6.66, P=0.022).</p><p><b>CONCLUSION</b>Mutation of the CRELD1 gene may increase the risk for AVSD rather than being directly causative. The P286R mutation of CRELD1 can downregulate the expression of Aggrecan and upregulates the expression of Tenascin C protein, both of which are crucial to extracellular matrix in the formation of the atrioventricular septum. The P286R mutation of CRELD1 may be correlated to the occurrence of AVSD.</p>
Subject(s)
Adolescent , Animals , Child , Child, Preschool , Female , Humans , Infant , Male , Amino Acid Sequence , Base Sequence , Cell Adhesion Molecules , Chemistry , Genetics , Metabolism , Extracellular Matrix Proteins , Chemistry , Genetics , Metabolism , Heart Septal Defects , Genetics , Metabolism , Pathology , Molecular Sequence Data , Mutation, Missense , Sequence AlignmentABSTRACT
Mucin as an important member in gastrointestinal mucus layer has become the focus of research. Many studies suggested that MUC1 mucin is involved in the mechanism of Helicobacter pylori( Hp)infection. It is important to understand the relationship between MUC1 mucin and Hp for preventing Hp infection and gastric cancer. This article reviewed the relationship between MUC1 mucin and Hp.
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With the implementation of the strategies for the development of our country through science and education and talents, and of the"211 and 985 projects", there has been a more substantial increase in the scientific and technological strength and international competitiveness of research universities, reflected in the year-by-year increase in the number and total funding of research projects taken up by universities, and in the output results. All the achievements rely on the increasing investment of the government in the fields of science and technology and on hard-working scholars and students who devote themselves to scientific research, as well as the prospective planning and scientific decision making of leaders, and the concerted efforts, standard management and guiding service of the administrative departments. In the present paper the important role of the president's office of a university in ensuring that research work can be running smoothly is explored through analysis on the assistant role of the president's office of Peking University Health Science Center, and its practice in the provision of service-oriented management and promotion of the innovation and development of scientific research by close cooperation with the research management department and integrated coordination of all the individual administrative departments.
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BACKGROUND: Conventional hemodialysis mainly for cleaning uremic micro molecule substance, such as urea nitrogen or creatinine; however, few hemodialyses can clean uremic middle molecule substances (MMS). With prolonged dialysis duration, MMS accumulates in vivo and induces a series of complications. OBJECTIVE: To compare the efficiency of adsorptive dialysis (hemoperfusion unites hemodialysis) and conventional hemodialysis in cleaning uremic MMS. METHODS: Totally 60 maintenance hemodialysis patients were averagely divided into the adsorptive dialysis group and conventional hemodialysis group. First of all, hemoperfusion apparatus and dialyser were connected in series to take the adsorptive dialysis in the adsorptive dialysis group (hemoperfusion apparatus were equipped before dialyser). 120 minutes later, the hemoperfusion apparatus was toke off and continues to hemodialysis for 120 minutes. Duration of conventional hemodialysis was 240 minutes. Changes in clinical symptoms and levels of liver function, kidney function, serum electrolytes, hemocytes and uremic MMS were observed prior to and after treatment. RESULTS AND CONCLUSION: Adsorptive dialysis could remove the MMS notably. Compared with the conventional hemodialysis group, a single 120 minutes treatment could decrease MMS significantly (P < 0.05). The platelet levels were obviously decreased in the adsorptive dialysis group after treatment (P < 0.05), which were significantly different from the conventional hemodialysis group (P < 0.05). There was no significant difference in liver function, kidney function or serum electrolytes concentration. But related symptoms, such as the skin itch, sleep disorders and myalgia, were relieved more or less.
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Objective To analyze setup errors for irradiation of pelvic carcinoma by online conebeam CT (CBCT) scanning and to calculate the external margins from clinical target volume (CTV) to planning target volume (PTV) in treatment planning. Methods Twelve patients with rectal or prostate cancer were enrolled in this study. Translational errors (x,y,z) and rotational errors (u,v,w) were obtained by using CBCT in radiotherapy. Results The set-up errors were gathered from 229 sets of CBCT in 12patients. The systemic ± random errors on x,y,z, u,v and w axes were (0.49 ± 1.18) mm, (-0. 11 ±3.45) mm, (-2. 00 ± 1.59) mm, 1.14°±0. 67°, 0. 42°±O. 94°and -0. 32°±±0. 68°, respectively. Setup errors in the left-right, anterior-posterior, and superior-inferior directions were 4. 6 mm, 12. 5 mm, and 6. 2 mm, respectively. Conclusions Set-up errors were unavoidable in pelvic carcinoma irradiation. To minimize the influence of set-up errors, we suggest a PTV margin of 5 mm, 15 mm and 10 mm in the leftright, anterior-posterior and superior-inferior directions, respectively.
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About 40 % of testicular germ-cell tumours are seminomas, and most of them are clinical stage Ⅰ . For a long time, the standard treatment approach for stage Ⅰ testicular seminoma has been radical inguinal orchiectomy followed by radiotherapy to the para-aortic and ipsilateral pelvic lymph nodes. In recent years, many oncologists indicate that the effect of the adjuvant postoperative para-ortic lymph nodal irradiation and chemotherapy using carboplatin is equivalent to para-aortic and ipsilateral pelvic irradiation post orchiectomy for patients with Stage Ⅰ seminoma of the testis, and the side effects is obviously declined, but the long-term side effects are still indefinite. This review presents the treatment development of the stage Ⅰ testicular seminoma after radical inguinal orchiectomy.
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Objective To study the clinical features of cryptococcosis. Method The clinical manifestations of 101 patients with cryptococcosis were comprehensively analyzed using clinical statistical method. Results Among the 101 patients, 68 were male and 33 were female, 94.1% cases were chronic or sub chronic in onset. Headache and fever were the most common symptoms, over 85.0% patients got headache and(or) fever, vomiting (71.3%) was the second common, and the confusion, convulsion, seizure, visual and hearing damage are also relatively common. Nearly 70.0% patients had intracranial hypertention. Among the 58 patients who received brain CT scaning, 40 showed abnormal changes. All of 8 patients who received brain magnetic resonance imaging(MRI) showed abnormal changes. And 97 cases were positive in cerebrospinal fluid ink stain, 2 cases were negative in ink stain but positive in cerebrospinal fluid culture, and 2 were diagnosed after brain biopsy or brain surgery. Most cases had been falsely diagnosed as many other diseases. Conclusions Most patients with cryptococcosis should be chronic or sub chronic in onset, and their clinical features, cerebrospinal fluid routine and biochemical test, or CT and MRI are lack of specificity. The finding of Cryptococcus in cerebrospinal fluid culture and brain biopsy should be the golden standard of diagnosis.
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Object Isolation and structural identification of xanthone derivative from medicinal plant Swertia mileensis T N Ho et W L Shih were carried out Methods The chemical constituents were isolated and purified by extensive silica gel column chromatography and their structures were elucidated by chemical evidences and spectral analysis Results There were 12 xanthone analogues named 1 hydroxy 2, 3, 4, 5 tetramethoxyxanthone, (Ⅰ); 1 hydroxy 2, 3, 7 trimethoxyxanthone, (Ⅱ); 1 hydroxy 2, 3, 5, 7 tetramethoxyxanthone, (Ⅲ); 1, 5 dihydroxy 2, 3 dimethoxyxanthone, (Ⅳ); 1, 5 dihydroxy 2, 3, 7 trimethoxyxanthone, (Ⅴ); 1 hydroxy 2, 3, 5 trimethoxyxanthone, (Ⅵ); 1, 5 dihydroxy 2, 3, 4, 7 tetramethoxyxanthone, (Ⅶ); 1, 8 dihydroxy 2, 3, 6 trimethoxyxanthone, (Ⅷ); 1 hydroxy 2, 3, 4, 7 tetramethoxyxanthone, (Ⅸ); 1, 2, 3, 5 tetromethoxyxanthone, (Ⅹ); 1 hydroxyl 2, 3, 4, 6 tetramethoxyxanthone, (Ⅺ); 1 hydroxyl 2, 3, 6, 8 tetramethoxyxanthone, ( ⅩⅡ ) Conclusion Compounds Ⅰ, Ⅲ, Ⅳ, Ⅴ, Ⅶ ⅩⅡ were first isolated from S. mileensis