RESUMEN
OBJECTIVE: 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). METHODS: 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. RESULTS: 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. CONCLUSION: There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.
Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Exones , Enfermedades Urogenitales Masculinas/genética , Mutación , Alelos , Pueblo Asiatico/genética , Secuencia de Bases , Genotipo , Humanos , Masculino , Conducto Deferente/anomalíasRESUMEN
OBJECTIVE: To explore the norms of treatment of acute organophosphorus pesticide poisoning (AOPP), and observe the curative effect. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Asunto(s)
Intoxicación por Organofosfatos , Plaguicidas/envenenamiento , Intoxicación/terapia , Nivel de Atención/normas , Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
OBJECTIVE: To understand the association between gene polymorphism of catechol-O-methyltransferase (COMT) and suicide attempters taking pesticides orally and to provide a scientific base for the prevention of suicidal behavior. METHODS: 107 suicide attempters taking pesticides orally were collected from The People's Hospitals in Shandong Province from January 2003 through December 2003. The informations of all the attempters were obtained and 1 ml whole blood from of them were collected. Molecular biological techniques were used to study the gene type of each subject. RESULTS: In the 107 suicide attempters, the ratio of male to female is 1:1.55; 67.3% of them were in age range of 20 - 44 years; 59.8% of them had education level of elementary school or lower. 13 suicide attempters (12.1% of all the attempters) had psychiatric disorders. 84 suicide attempters (78.5% of all the attempters) had affective conflicts with others in the recent year. 30 suicide attempters (28.0% of the suicide attempters) had impulsive behavior. Multivariate logistic regression model analysis showed that suicide impulsion and psychiatric disorders were significantly associated with COMT Val/Val, their OR values were 0.052 (95% CI: 0.006 - 0.437), 2.917 (95% CI: 1.097 - 7.760). CONCLUSION: In this population, more attention should be paid to young female people with psychiatric disorders or having affective conflicts with others in the recent year so as to prevent suicide. This study supported that there is heterogeneity in COMT gene in suicide attempters and there is interaction between COMT Val/Val and suicide impulsion and psychiatric disorders.