Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene

Abstract: Epidermolysis bullosa (EB) is a group of genodermatoses characterized by fragility and easy blistering of the skin. In the junctional forms of EB (JEB), blisters occur at the level of the lamina lucida, and specific mutations have been detected in the genes encoding different components of the hemidesmosomal-anchoring filament complex. In the non-lethal form of JEB (NL-JEB), mutations in genes encoding two of the polypeptide chains of the anchoring filament protein laminin 5 have recently been described. In this study, we searched for mutations in a family using PCR amplification of exon 14 of LAMB3 , the laminin 5 β₃ chain gene, followed by heteroduplex analysis and automated sequencing of the PCR products. We detected a novel combination of mutations in this family, consisting of an out-of frame insertion on one allele, and a splice site mutation on the other allele, representing the first report of a large insertion in LAMB3 , together with a splice site mutation inherited in trans , which result in the NL-JEB phenotype.     

替硝唑软膏的研制与临床应用

目的:研究替硝唑软膏,并应用于临床。方法:参照同类制剂,确定最优组方和制备方法,采用紫外分光光度法测定含量,用比较法进行临床疗效观察。结果:制剂制备简单,含量测定方法简便,结果可靠,经临床应用牙周炎、牙龈炎患者62例,总有效率95.3％。结论:本品是治疗牙周炎、牙龈炎的理想制剂,值得推广应用。     

Fertility, reproduction and postnatal survival in mice chronically exposed to halothane

Reproductive studies were performed in Swiss/ICR mice chronically exposed to subanesthetic and anesthetic concentrations of halothane. Male and female mice were treated five or seven days a week for nine weeks prior to mating; exposure of females was continued daily throughout pregnancy. Halothane exposures were 0.025, 0.1, 0.4, 1.2, and 4.0 MAC hours per day. No adverse effect on reproduction was observed at the lowest two exposure levels studied. Exposures to 0.4 MAC hour per day or more were associated with decreased maternal weight gain, fetal fetal length and weight, and early postnatal weight gain. Pregnancy rate, implantation rate, and number of live fetuses per litter were significantly decreased at 1.2 MAC hours per day. The percentage of resorption or fetuses dead in utero was not increased, and postnatal survival of offspring was unaltered. Subsequent matings between untreated females and males exposed to halothane, 1.2 MAC hours per day for 17 weeks, resulted in normal reproductive performance; this suggests that the adverse reproductive changes observed when both males and females were exposed represented a primary effect on females. The least exposure at which effects were seen is approximately 40 times greater than the level of human occupational exposure is unscavenged operating rooms.