Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.

Biotinidase deficiency is an autosomal recessive inherited disorder that is characterized by neurological and cutaneous symptoms. Biotinidase-deficient children cannot recycle endogenous biotin, an essential water-soluble B vitamin. Biotin is covalently attached to epsilon-amino groups of lysyl residues of four carboxylases.

Serotonin-induced paw edema in the rat: pharmacological profile.

1. Serotonin (5-HT) induced a linear increase in paw weight in rats within 1 hr of an intraplantar injection (50 microliters vol) over a concentration range of 0.005-0.

Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.

Four cases having mosaicism for a small marker or ring [45,X/46,X,+mar or 45,X/46,X,+r] chromosome were ascertained following cytogenetic studies requested because of minor anomalies (cases 1, 3, and 4) and/or short stature (cases 2 and 4). While all 4 cases had traits typical of Ullrich-Turner syndrome (UTS), cases 1, 3, and 4 had manifestations not usually present in UTS, including unusual facial appearance, mental retardation/developmental delay (MR/DD) (cases 3 and 4), and syndactylies (case 1). The facial appearances of cases 1 and 3 were similar yet distinct from that of case 4.

Embedded performance measures as teaching and assessment devices.

Standard methods of testing trainees during courses on health and safety are time-consuming and, therefore, testing is rarely completed. Embedded performance measures, however, offer an alternative to traditional testing; they are completely integrated with instruction and require the learner to perform numerous short problem-solving tasks. The author focuses on the history of embedded performance measures and their effectiveness in health and safety training.

Human serum biotinidase. cDNA cloning, sequence, and characterization.

Biotinidase (EC 3.5.1.

Effects of various anti-T cell receptor antibodies on the development of type II collagen-induced arthritis in mice.

Recent genetic studies of David and coworkers suggest that subsets of T cells utilizing specific V beta TcR genes may play important roles in the susceptibility to collagen-induced arthritis (CIA). Hence, in vivo depletion of such T cell subsets may significantly affect the development of CIA. To address this possibility, we first examined the effects of in vivo treatments with various monoclonal antibodies (mAbs) that are specific for particular TcR V beta families on the induction of CIA.

A system for quantitative morphological measurement and electronic modelling of neurons: three-dimensional reconstruction.

A system for accurately reconstructing neurones from optical sections taken at high magnification is described. Cells are digitised on a 68000-based microcomputer to form a database consisting of a series of linked nodes each consisting of x, y, z coordinates and an estimate of dendritic diameter. This database is used to generate three-dimensional (3-D) displays of the neurone and allows quantitative analysis of the cell volume, surface area and dendritic length.

Attachment and emotion regulation during mother-teen problem solving: a control theory analysis.

We present a control theory analysis of adolescents' attachment strategies in the Adult Attachment Interview (AAI). In Study 1, Q-sort prototypes for secure/anxious and deactivating/hyperactivating strategies were used to differentiate between Main and Goldwyn's AAI classifications. In Study 2, we examined how AAI strategies were associated with emotion regulation during mother-teen problem solving.

Use of peritoneal insufflation to displace the small bowel during pelvic and abdominal radiotherapy in carcinoma of the cervix.

Peritoneal insufflation is a technique which reliably displaces small bowel from pelvic and abdominal radiotherapy fields with the aim of reducing bowel reactions which limit the dose of radiation applied to these sites. Use of this technique in five patients undergoing radiotherapy for advanced carcinoma of the cervix, and the degree of bowel displacement resulting, dosimetry, acute reactions and tolerability of the technique are presented, with discussion of the possibility of future escalation in radiotherapy dose.

Interleukin-1 enhances the development of type II collagen-induced arthritis only in susceptible and not in resistant mice.

The development of type II collagen-induced arthritis (CIA) in DBA/1 mice is readily accelerated by treatments with interleukin-1 beta (IL-1 beta). In an attempt to further characterize this IL-1 beta-mediated enhancement of CIA, we first examined the effects of IL-1 beta treatments in other "CIA-susceptible" strains and "CIA-resistant" mice. It was observed that treatments with IL-1 beta also enhanced the onset of arthritis in two B10 recombinant CIA-susceptible strains, B10.

Progressive bilateral nasal alar collapse: a dominantly inherited trait.

We describe a 47-year-old woman with progressive bilateral collapse of the alae nasi first noted at age 16 years. Her dizygotic twin daughters have similar nasal collapse beginning at age 20 years. This condition appears to be inherited as a dominant trait.

Interleukin 1 mediated acceleration of type II collagen-induced arthritis: effects of anti-inflammatory or anti-arthritic drugs.

We previously demonstrated that treatments with rIL-1 beta accelerated the onset and progression of CIA in mice. In the present study, it was observed that IL-1 also enhanced the development of CIA in rats. Like the mouse model, maximal incidence (80-100%) of arthritis occurred within 7 days after the first treatment with IL-1 in rats.

A comparison of sulpiride, dothiepin, diazepam and placebo in the treatment of depressed out-patients.

The effects of sulpiride, dothiepin, diazepam and placebo were compared in out-patients who were suffering from depressive states of moderate severity. No major differences were found between the regimens after 4 weeks administration. A notable finding was the high recovery rate among those patients who received the placebo.

Acid mucopolysaccharide staining in scleredema.

We studied 26 formalin-fixed biopsy specimens taken from 22 patients with scleredema and found positive staining in 67% of the tissues when both colloidal iron and alcian blue methods were used. Single stains were positive in only half the tissues. Positive findings were noted in both patients with diabetes (11 patients) and in those without it (11 patients).

Harada's disease associated with fibrous dysplasia.

Harada's disease is a well-described entity consisting of bilateral serous retinal detachments and diffuse choroiditis. The etiology of Harada's disease is obscure. Fibrous dysplasia of the orbit is also a well-known entity associated with many orbital and ophthalmologic findings.

Interleukin 1 enhances the development of spontaneous arthritis in MRL/lpr mice.

We previously reported that treatments with human recombinant interleukin-1 beta (rIL-1 beta) in DBA/1 mice which were suboptimally immunized with native chick type II collagen (NcII) markedly accelerated the onset of collagen-induced arthritis (CIA). In the present study, we further characterized this IL-1-mediated enhancement of murine arthritis by examining the in vivo effects of rIL-1 beta in another arthritis model, namely, the spontaneous arthritis of the MRL/lpr mouse strain. The results of these studies demonstrated that IL-1 treatments also enhanced the onset and progression of the spontaneous arthritic disease in MRL/lpr mice.

Cauda equina syndrome after in situ arthrodesis for severe spondylolisthesis at the lumbosacral junction.

Relative stretching of the cauda equina over the posterosuperior border of the sacrum can be found in all patients who have Grade-III or IV spondylolisthesis at the lumbosacral junction. We identified twelve patients, all less than eighteen years old, who had cauda equina syndrome after in situ arthrodesis for Grade-III or IV lumbosacral spondylolisthesis. In all twelve patients, posterolateral arthrodesis had been done bilaterally through a midline or paraspinal muscle-splitting approach.