Bullous urticaria pigmentosa

Urticaria pigmentosa is the most common manifestation of cutaneous mastocytosis. Three-quarters of all cases occur during infancy or early childhood. Occasionally, vesicles or bullae may appear in persons with urticaria pigmentosa. We describe an unusual case of bullous urticaria pigmentosa with prominent scalp involvement. Prognosis and therapy are reviewed.     

Transitioning to independence: challenges for young people with disabilities and their caregivers

For all teens, the process of moving from childhood to adulthood is challenging. For young people with disabilities, transitioning to independence presents even more challenges. Barriers to successful transition for young people with disabilities include low expectations by parents and other significant people in the community, lack of knowledge of existing career and vocational education services, and lack of self-advocacy skills. This article provides an overview of issues related to transitioning to adult independence and offers suggestions for assessment, planning, and intervention that can help nurses be effective partners with families and other caregivers in transition efforts. Nurses caring for children with disabilities can help families see strengths in their children and develop realistic, developmentally-appropriate expectations for skill development, attitudes, and behaviors that will promote self-sufficiency in adulthood. Nurses can help families think about possibilities for independence and refer families to community resources that can help young people with disabilities pursue postsecondary education, obtain and maintain jobs, and live independently.     

TGF-beta knockout and dominant-negative receptor transgenic mice

Use of homologous recombination and transgenic technologies have provided mouse models to study the physiological roles of the three mammalian TGF-beta isoforms, and their regulation in the context of the intact animal. Mice harboring null mutations for TGF-beta isoforms demonstrate that each exerts discrete nonoverlapping functions during development. TGF-beta1 null mice reveal a crucial role for this cytokine in modulation of the immune system, with evidence for altered development, activation and function of various immune cell populations. New approaches to tissue- and cell-restricted disruption of TGF-beta signaling pathways in transgenic mice carrying dominant-negative mutant TGF-beta receptors will be discussed.     

Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21-Hydroxylase deficiency is one of the most common inherited disorders, with carrier frequencies of approximately 10% in all world populations studied to date. The high prevalence of the mutant gene is probably due to a flanking pseudogene serving as a reservoir for mutations. Despite the potential for a high rate of de novo mutations, a founder effect for specific gene conversions is observed in most populations. We hypothesized that there was a survival advantage to 21-hydroxylase heterozygotes, and here we report endocrinological and molecular investigations to test this hypothesis. We defined 28 carriers and 22 mutation-negative controls by molecular genotyping and determined ACTH-stimulated adrenal hormone responses. We found significantly elevated cortisol responses in the carriers compared to controls (30 min cortisol levels: normal, 24.2 +/- 4.6 micrograms/dL; carrier, 28.1 +/- 4.2 micrograms/dL; P < 0.005). Cortisol has a crucial role in maintaining homeostasis, influencing differentiation, suppressing inflammation, and effecting cross-talk among the immune, nervous, and endocrine systems. The brisk cortisol response we have documented in carriers of 21-hydroxylase may enable a rapid return to homeostasis in response to infectious, inflammatory, or other environmental stresses and may protect from inappropriate immune responses, such as autoimmune diseases.     

Effects of ligand priming and multiple-dose injection on tissue uptake of 111In-pentetreotide in rats

In patients undergoing somatostatin receptor scintigraphy, treatment with octreotide (Sandostatin) is usually discontinued 24-48 h before and after injection with the radioligand 111In-pentetreotide ([111In-DTPA(O)]octreotide) (Octreoscan) because octreotide competes with radioligand for the same receptors. However, D?rr et al. and Soresi et al. reported improved visualization of carcinoid and small cell lung cancer lesions, respectively, during continued octreotide treatment. We found that intravenous administration of unlabeled octreotide to rats inhibited the binding of an optimal dose (0.5 microg) of 111In-pentetreotide to somatostatin receptors in pancreas and adrenals in a mass- and time-dependent way. Pretreatment with unlabeled octreotide never increased receptor binding of 111In-pentetreotide. Administration of 100 microg of octreotide decreased receptor-bound radioactivity if given simultaneously with or 10 or 20 min after injection of the radioligand, but had no effect if given 30 min after the radioligand. These findings indicate rapid processing of receptor-bound octreotide and suggest that octreotide treatment of patients undergoing 111In-pentetreotide scintigraphy may be reinitiated as soon as 1 h after radioligand administration.     

Infection and superior vena cava syndrome after pacemaker implantations: major consequences of a minor intervention

Two men, aged 71 and 56 years, with pacemakers, developed the superior vena cava syndrome one and five years, respectively, after infection of the pacemaker pocket. They had been treated with antibiotics and partial removal of the foreign bodies. The conditions of both included occlusion of the superior vena cava and of both subclavian veins. The symptoms disappeared after removal of the total pacemaker system and venous reconstruction. The possibility of a superior vena cava syndrome occurring is increased if other complications have occurred previously, particularly infection. Prevention and treatment comprise on the one hand prevention and treatment of the infection (which is not always obvious) and on the other, earliest possible detection of thromboembolisms.     

Chronopharmacology. Time of day variations in the action of bupivacaine are not manifested in nerves

To test the hypothesis that the efficacy of local anaesthetics to block nerve conduction is related the time of day (TOD) of drug application, we retrospectively analysed data from previous experiments on tachyphylaxis. During the course of these experiments, as a measure of drug efficacy we determined the minimal blocking concentration (c(m)) of bupivacaine in rabbit aortic nerves at several TODs. The special in situ preparation used permitted study of local anaesthetic pharmacodynamics without the influence of pharmacokinetics, making it possible to investigate the chronopharmacodynamics of these drugs by relating c(m)s to the respective TODs of their measurement. METHODS: In 43 New Zealand rabbits anaesthetised with urethane, the aortic nerve was dissected and partly placed in a double-lumen perfusion chamber (Fig. 1A), which was continuously perfused with tyrode solution or bupivacaine. Spike activity was continuously recorded by bipolar platinum-iridium electrodes caudad to the chamber for control and cephalad for registration of blocking effects. As a measure of drug efficacy, by increasing the bupivacaine concentration stepwise we determined the smallest concentration that blocks spike activity i.e., c(m). After each determination bupivacaine was rinsed off to confirm intact nerve function (Fig. 18). RESULTS: Forty-nine determinations of bupivacaine c(m) were performed between 12:25 p.m. and 2:35 a.m. Data were pooled into groups of 2 h (Fig. 2). There was no significant difference between groups (ANOVA). In particular, c(m) at 3:00 p.m. was not lower than at 11:00 p.m., times at which local anaesthetics have been found to be most and least effective, respectively. CONCLUSIONS: The c(m) of bupivacaine, and thus its efficacy to block nerve conduction, does not depend on TOD of drug application. Therefore, it is suggested that chronopharmacodynamics does not play an important role in the well-known circadian rhythm of the action of bupivacaine and probably of local anaesthetics in general.