Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.
N‐acetylcysteine (NAC) is known to be a scavenger of free oxygen radicals, and recent in vitro studies have demonstrated that it is also able to inhibit leukocyte function. The clinical significance of these effects is, however, not known. In this study we have measured the effect on human blood neutrophil and monocyte function of a single 400 mg dose of NAC administered orally. Administration of NAC to ten healthy volunteers resulted in significant reduction of neutrophil chemiluminescence response following activation by opsonized zymozan as compared to four non‐treated persons acting as controls. No effect was observed on the chemotaxis of either cell type or on monocyte chemiluminescence response. These findings suggest that NAC may be beneficial in clinical conditions like cystic fibrosis, where tissue damage may be a consequence of the effects of increased release of toxic oxygen radicals and proteolytic enzymes.
Human nasal cilia were perfused with aqueous solutions of two corticosteroid aerosols, beclomethasone dipropionate (BPD) and flunisolide, with the main preservative of flunisolide, propylene glycol, and with placebo. The concentration used were BPD 0.1 mg/ml, 0.05 mg/ml, 0.005 mg/ml and 0.0005 mg/ml, flunisolide 0.25 mg/ml, 0.05 mg/ml, 0.025 mg/ml and 0.00025 mg/ml, and propylene glycol 20 mg/ml and 200 mg/ml. A dose-related decrease in ciliary beating frequency (CBF) was seen after perfusion with both BDP and flunisolide as well as propylene glycol. The decrease in CBF following perfusion with propylene glycol was partially reversible upon re-perfusion with medium alone, whereas the decrease seen after BDP and flunisolide was irreversible. Although previous studies have shown no adverse effect on the mucous membrane except for the areas hit by the impact of the sprays, our results suggest that caution should be taken when the dose and/or the length of treatment is considered, and that the effect of administration of these drugs on CBF in vivo needs to be investigated.
The pharmacokinetics of ketoprofen were studied in 7 volunteers and in 5 patients suffering from varying degrees of renal insufficiency. All the subjects received a single oral dose (50 mg) of ketoprofen. Plasma concentrations were measured up to 24 hours after administration and urinary excretion for 2 days. Ketoprofen concentrations were determined by mass-fragmentography with a minimum level of detection of 0.02 mg/l. As expected, a reduction of the [51Cr]EDTA clearance was correlated with an increase in the elimination half-life of ketoprofen. The urinary excretion corresponded to results reported by other groups.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.