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1.
National Journal of Andrology ; (12): 999-1003, 2012.
Article Dans Chinois | WPRIM | ID: wpr-257002

Résumé

<p><b>OBJECTIVE</b>To assess the necessity of detecting the gene of cystic fibrosis transmembrane conductance regulator factor (CFTR) in Chinese men with congenital bilateral absence of the vas deferens (CBAVD).</p><p><b>METHODS</b>We detected the mutation of all the 27 exons of the CFTR gene in 9 patients with CBAVD by DNA sequencing, and compared the results using NCBI and Cystic Fibrosis Mutation Database.</p><p><b>RESULTS</b>Four novel missense mutations/variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in the Cystic Fibrosis Mutation Database.</p><p><b>CONCLUSION</b>There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.</p>


Sujets)
Humains , Mâle , Allèles , Asiatiques , Génétique , Séquence nucléotidique , Protéine CFTR , Génétique , Exons , Génotype , Maladies urogénitales de l'homme , Génétique , Mutation , Conduit déférent , Malformations
2.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 321-324, 2010.
Article Dans Chinois | WPRIM | ID: wpr-288441

Résumé

<p><b>OBJECTIVE</b>To explore the norms of treatment of acute organophosphorus pesticide poisoning (AOPP), and observe the curative effect.</p><p><b>METHODS</b>On basis of the pre-research, the norms of treatment of AOPP were summarized, and a multi-center clinical trial was performed in 6 hospitals selected from high incidence of AOPP in Shandong Province.</p><p><b>RESULTS</b>422 patients of AOPP in 6 hospitals in observation period were treated and observed by the norms of treatment. Among them, the proportion of oral poisoning was 97.16%, middle and severe degree were 87.44%. Compared with themselves 2 years ago before standard treatment, the curative effect of the norms of treatment for AOPP was much better than before. The mortality rate of AOPP declined from 9.87% to 1.66% (Chi2 = 27.92, P < 0.01), that was much better than the average therapeutic effect level of all our province in the same period (the mortality rate: 8.92%) (Chi2 = 26.05, P < 0.01). The average amount of atropine [(37.54 +/- 17.76) mg], dropped greatly [(1280.70 +/- 69.22) mg] (U = 439.22, P < 0.01).The usage of atropine by continuous intravenous injection with venous pump was better than ordinary intravenous injection. The mean dosage of pralidoxime chloride increased twice than the previous (U = 19.48, P < 0.01). There was no drug poisoning.</p><p><b>CONCLUSION</b>The standard treatment of AOPP is urgently needed in our country, especially in rural area. By this trial, the satisfactory effect of the norms of treatment for AOPP summarized is observed and it reduces the fatality rate remarkably.</p>


Sujets)
Adolescent , Adulte , Sujet âgé , Enfant , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte , Intoxication aux organophosphates , Pesticides , Intoxication , Intoxication , Thérapeutique , Norme de soins , Normes de référence
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