Dyskeratosis congenita: report of a case and review of the literature

A case of dyskeratosis congenita in a 10-year-old white boy is reported. The triad of oral leukoplakia, nail dystrophy, and skin pigmentation was present. Other associated anomalies included dysphagia and varied immunoglobulin levels, although there was no evidence of anemia, pancytopenia, and ocular involvement. Since it may be associated with future malignant change, dyskeratosis congenita should be considered in all cases in which an obscure white lesion exists in the mouth.     

Successful treatment of acute inferior vena cava and unilateral renal vein thrombosis by local infusion of recombinant tissue plasminogen activator

Renal vein thrombosis can occur as a complication of nephrotic syndrome. We present the case of a young man with nephrotic syndrome caused by minimal change disease who developed acute inferior vena cava and left renal vein thrombosis. He was treated initially with intravenous heparin. Because of the persistence of severe left flank pain and gross hematuria, local infusion of recombinant tissue plasminogen activator was tried, with resolution of thrombi and subsidence of symptoms. Functional preservation of the involved kidney is good, as indicated by Tc-99m DMSA scan (involved kidney, 47.4%; uninvolved kidney, 52.6%). Anticoagulation is usually recommended as the treatment of choice in renal vein thrombosis. We believe that in cases with critical presentations, such as bilateral involvement, extension into inferior vena cava, acute renal failure, pulmonary embolism or severe flank pain, thrombolytic therapy should be considered as a second-line treatment if good response is not obtained with heparin.     

The Mother,the Infant and the Matrix

The author describes his ongoing experience in creating an entirely new psychoanalytic training institute from the merger of two currently operating institutes. The goals, ideals, conflicts, and vicissitudes of the merger process are described, along with the more difficult and elusive effort to turn out skilled and emotionally balanced analysts who are, to whatever extent possible, also decent human beings.     

Forensic science, genetics and wildlife biology: getting the right mix for a wildlife DNA forensics lab

Wildlife DNA forensics is receiving increasing coverage in the popular press and has begun to appear in the scientific literature in relation to several different fields. Recognized as an applied subject, it rests on top of very diverse scientific pillars ranging from biochemistry through to evolutionary genetics, all embedded within the context of modern forensic science. This breadth of scope, combined with typically limited resources, has often left wildlife DNA forensics hanging precariously between human DNA forensics and academics keen to seek novel applications for biological research. How best to bridge this gap is a matter for regular debate among the relatively few full-time practitioners in the field. The decisions involved in establishing forensic genetic services to investigate wildlife crime can be complex, particularly where crimes involve a wide range of species and evidential questions. This paper examines some of the issues relevant to setting up a wildlife DNA forensics laboratory based on experiences of working in this area over the past 7 years. It includes a discussion of various models for operating individual laboratories as well as options for organizing forensic testing at higher national and international levels.     

Ethyl (3S,4aR,6S,8aR)-6-(4-ethoxycar- bonylimidazol-1-ylmethyl)decahydroiso-quinoline-3-carboxylic ester: a prodrug of a GluR5 kainate receptor antagonist active in two animal models of acute migraine

Amino diacid 3, a highly selective competitive GluR5 kainate receptor antagonist, exhibited high GluR5 receptor affinity and selectivity over other glutamate receptors. Its diethyl ester prodrug 4 was orally active in two models of migraine: the neurogenic dural plasma protein extravasation model and the nucleus caudalis c-fos expression model. These data suggest that a GluR5 kainate receptor antagonist might be an efficacious antimigraine therapy with a novel mechanism of action.     

Kainate receptor agonists, antagonists and allosteric modulators

Interest in kainate receptors has increased over the past few years. Our understanding of their physiology and pharmacology has improved markedly since their original cloning and expression in the early 1990s. For example, agonist profiles at recombinant kainate receptors have been used to identify and distinguish kainate receptors in neurons. Furthermore, the development of selective antagonists for kainate receptor subtypes has increased our understanding of the functional roles of kainate receptors in neurons and synaptic transmission. In this review we described the activity of agonists and antagonists at kainate receptors and their selectivity profiles at NMDA and non-NMDA receptors.