We describe a family in which autosomal dominant congenital cataract and microphthalmia were segregating together with a reciprocal translocation t(2;16) (p22.3;p13.3) through three generations. This family included four individuals with balanced translocations, three with partial trisomy 2p derived from this translocation, and two with a normal karyotype. All of the subjects with balanced and unbalanced translocations had congenital cataract and microphthalmia, whereas the two individuals with normal karyotypes did not show any ocular anomalies. These observations suggest that the altered function of a gene that lies on the 16p13.3 band and that has an important role in the development of the eye is responsible for this disorder.

Abnormalities, Multiple↗

PubMedDate not supplied

Pharmacokinetics of droloxifene in mice, rats, monkeys, premenopausal and postmenopausal patients.

The pharmacokinetics of droloxifene have been studied in female mice, rats, monkeys, and premenopausal and postmenopausal patients. Droloxifene was rapidly and almost completely absorbed after oral dosing. The bioavailability was 8% in mice, 18% in rats and 11% in monkeys due to extensive first-pass metabolism. Droloxifene is widely distributed as demonstrated by its large volume of distribution and the fact that radioactivity in most tissues and organs was higher than in the blood. After oral dosing, the serum and plasma concentrations of unchanged drug declined with terminal half-lives of 1.6 h in mice, 4.3 h in rats, 10.6 h in monkeys and 25 h in patients. The systemic clearance was in the order of mice > rats > monkeys, and nearly equalled the hepatic blood flow in each species. Most of the 14C from [14C]-droloxifene administered orally and i.v. to rats and monkeys was excreted in the faeces. Droloxifene was metabolized extensively by phase I and phase II metabolism. 3-methoxy-4-hydroxy droloxifene was the major metabolite in rat faeces. The metabolites in rat and monkey faeces were not so different qualitatively. Pharmacokinetic parameters were not significantly different between premenopausal and postmenopausal patients.

Adult↗

PubMedDate not supplied

Fat intensity within the hypointense zone on MR imaging of avascular necrosis of the femoral head.

In some patients with avascular necrosis of the femoral head (ANFH), an area of signal intensity similar to that of subcutaneous fat tissue is found within or proximal to the hypointense zone of spin echo MR images. We refer to these MR findings as the "fat intensity" sign. This fat intensity sign was positive in 62 (47%) of 133 MR examinations of femoral heads with radiographically proven ANFH; this sign was negative in all hips with other diseases including degenerative joint disease, transient osteoporosis, rapidly destructive coxoarthrosis, and rheumatoid arthritis.

Adipose Tissue↗