Copper and zinc metabolism in aspartylglycosaminuria and Salla disease

Changes in the metabolism of copper and zinc are described in aspartylglycosaminuria (AGU) patients. AGU patients had significantly reduced serum zinc concentrations. However, hair zinc levels were normal, and hyperzincuria could not be demonstrated. The copper content in the hair of AGU patients was highly elevated. Serum copper and ceruloplasmin concentrations were within normal range. In AGU, small-molecular-weight glycoasparagine storage products accumulate in tissues and are excreted in urine in large amounts. They may interfere with the transport mechanisms of trace elements, and thus alter their distribution and availability for tissues. The changes in copper and zinc levels may contribute to the pathogenesis of some of the clinical signs of AGU and Salla disease.     

Heat transfer and pressure drop in a new type of corrugated channels

An experimental investigation of heat transfer and pressure drop from a new type of corrugated channels is presented. The investigation has been carried out for Reynolds numbers in the range of $\text{800 <}\text{Re}\text{< 5000}$ for one corrugated and one smooth channel. It is found that the heat transfer from the corrugated channel is up to 3.5 times higher than for the smooth one. The pressure drop is however large (5 – 6 times the value of a smooth channel) and it is suggested that the corrugation height and length should be altered in order to balance the increases in heat transfer and pressure drop.     

Testing for the equivalence of factor covariance and mean structures: The issue of partial measurement invariance.

Addresses issues related to partial measurement invariance using a tutorial approach based on the {lisrel} confirmatory factor analytic model. Specifically, we demonstrate procedures for (a) using "sensitivity analyses" to establish stable and substantively well-fitting baseline models, (b) determining partially invariant measurement parameters, and (c) testing for the invariance of factor covariance and mean structures, given partial measurement invariance. We also show, explicitly, the transformation of parameters from an all-X to an all-Y model specification, for purposes of testing mean structures. These procedures are illustrated with multidimensional self-concept data from low (n?=?248) and high (n?=?582) academically tracked high school adolescents. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

A Comparison of Presentation Methods for Reading on Mobile Phones

A study compares two methods of reading text-based content on mobile phones: traditional scroll-based reading and Rapid Serial Visual Presentation, which displays words rapidly in a sequence. University students used a prototype called Feedo to test both methods, and their reading comprehension, efficiency, and preference ratings were measured. The results show that efficiency increases with fast RSVP, comprehension is equal, and preference rating is lower than with self-paced scroll.     

Prevalence of serologic markers of HBV, HDV, HCV and HIV in non-injection drug users compared to injection drug users in Gran Canaria, Spain

Von Hippel-Lindau disease (VHL) is an autosomal dominant tumour syndrome caused by germline mutations of the VHL tumour suppressor gene located on chromosome 3p25-26. In VHL tumours may occur in 14 different target organs, including the eye. Retinal angiomas are considered the first manifestation of VHL disease in 43% of cases, and the cumulative probability of developing a retinal angioma in one or both eyes rises during each decade of life, reaching 80% for patients over 80 years old. Since 1976 patients with VHL at the University Hospital of Utrecht and their at-risk relatives have been screened periodically by a multidisciplinary team. Long-term follow-up ophthalmological data were analysed with special attention to natural course and results of treatment. In addition, we looked for a genotype-phenotype correlation. Retinal angiomas were found in all families. In one large family with a missense mutation (V170D) of the VHL gene, in which the complete spectrum of visceral- and central nervous system (CNS) features of VHL is present, macular, parapapillary, optic disc and ora serrata angiomas were also found. In general, however, a clear-cut genotype-phenotype correlation could not be found. Only early detection and treatment of peripheral retinal angiomas can be expected to decrease the percentage of patients with decreased visual acuity. Therefore, early detection and treatment of these tumours is of paramount importance. Ophthalmological screening of patients and persons at risk should start as early as possible. In patients with apparently sporadic retinal angiomas it is advisable to perform germline DNA analysis, since the risk of developing VHL is high, especially if the angiomas are bilateral, or unilateral and multifocal, if the patient is young, or if there is a family history suggestive of VHL.     

Presence of epithelial cells in the medullary canal after spinal anesthesia

BACKGROUND AND AIM: Several authors have focused on a causal link between the onset of neurological complications after lumbar injections and the fact that epithelial cells may be drawn into the vertebral canal during these procedures. Complications may arise both early (cephalea, septic and aseptic meningitis) and late (epidermoid tumours). The authors aimed to evaluate whether skin fragments which are carried down by the needle during subarachnoid anesthesia may even be present in the epidural or subarachnoid space three days later and may therefore justify the onset of the above neurological syndromes. METHODS: Five adult cats under narcosis underwent subarachnoid anesthesia using disposable 22G Quincke type needles. Between 0.7 and 1 ml isobaric bupivacaine at 0.50% was injected. The presence of the motor block of the lower limbs was ascertained once the effects of general anesthesia wore off. On the third day, again under general anesthesia, cardio-respiratory arrest was provoked by intravenous injection. Samples of meninges were collected in the injection area. After fixation in a phosphate glutaraldehyde buffer, dehydration in acetone, dehydration by critical point and gold metalisation, the samples were examined using SEM. RESULTS: No epidermal cells were found on the surface of the meninges. On the other hand, a squamous epithelial cell was observed which drained inside a sectioned epidural vessel towards the systemic circulation. CONCLUSIONS: This study confirms the possibility that, after subarachnoid anesthesia using 22G Quincke needles, skin fragments may enter the spinal canal. The permanence or otherwise of the epithelial fragments on the third day depends on the size of the fragment drawn down and the efficacy of the drainage system which removes isolated epithelial cells. This phenomenon may justify the self-limiting character of cephalea and meningisms which, even if not treated, regress in a few days, as well as the scarce development of epidermoid tumours.     

Increased expression of platelet-derived growth factor receptor alpha and beta and vascular endothelial growth factor in the skin of patients with chronic venous insufficiency

Growth factors produced by a variety of cells act as signalling peptides through specific cell surface receptor pathways. Functions such as cell proliferation, migration and differentiation have been assigned to each of them. Here, we report alterations of platelet-derived growth factor receptor alpha (PDGFR-alpha) and beta (PDGFR-beta) and vascular endothelial growth factor (VEGF) expression patterns in the progressive clinical stages of chronic venous insufficiency (CVI). A total of 30 punch biopsies were taken from patients with CVI, and VEGF and PDGFR were detected by indirect immunofluorescence and immunoperoxidase techniques. PDGFR-alpha and PDGFR-beta expression was strongly increased in endothelial cells of capillaries, pericapillary cells and connective tissue cells in the stroma of the skin of venous eczema and venous leg ulcer patients, and to a smaller extend in the dermis of those with lipodermatosclerosis. VEGF staining showed a similar expression pattern in the progressive CVI stages. However, staining of vessels in particular might simply reflect binding of VEGF, secreted by keratinocytes or fibroblasts, to its receptors. Growth factor and receptor expression in specimens from telangiectases and reticular veins, and from pigmented areas, resembled that of normal skin. We conclude that PDGFR-alpha, PDGFR-beta and VEGF play an important role in mediating inflammation and epithelial hyperproliferation in venous eczema, inducing connective tissue sclerosis in lipodermatosclerosis, and causing the reduced reepithelialization tendency in venous ulcers. We speculate that endothelial proliferation with chronic venous hypertension might be mediated by these growth factors.     

Natural and induced tolerance in an immune network model

It has been proposed that the immune system can be partitioned into central and peripheral immune systems. Recently, Carneiro et al. (1996a, b) proposed a network, model incorporating B and T lymphocytes that explicitly accounts for that partition. This model however, had some limitations that are tackled here. Two main changes were introduced: the average idiotypic connectivity is now an explicit function of time based on empirical evidence; and the activation of T lymphocytes by antigen is described by a log-bell shaped dose response curve. The new model, which also accounts for the CIS and PIS distinction, shows more reasonable results since the frequencies of tolerant, immune or autoimmune responses to an antigen are now correct. The model provides a new interpretation for tolerance induction during the neonatal period, and for the adult tolerance by low or high doses of antigen. It predicts that natural tolerance for antigens available during the neonatal period can be kept indefinitely upon their removal, while tolerance induced in the adult stages is rapidly lost upon transient removal of the antigen. A semiquantitative analysis of the model provides a simple explanation for the different results in terms of the frequency at which a limited set of canonical connectivity structures emerge during ontogenesis.