Increased nerve-growth-factor beta-chain cross-reacting material in familial dysautonomia

To determine whether dysautonomia arises from alteration in nerve-growth factor (NGF), we measured serum levels of NGF subunits in normal and dysautonomic subjects using a biologic assay based on neurite outgrowth from chick ganglions, a binding assay based on displacement of radiolabeled betaNGF from rabbit-ganglion microsomes, and radioimmunoassays of chi, gamma and betaNGF subunits via antiserum to mouse NGF polypeptides. A threefold increase (P less than 0.001) in serum antigen levels of the biologically active subunit (betaNGF) was found for dysautonomic as compared with normal subjects. By all other assays, the groups were alike. The marked discrepancy in betaNGF levels between antigenic and functional (biologic and binding) measurements suggests a qualitative abnormaltiy of betaNGF in dysautonomia. Alternatively, elevation of betaNGF antigen can be regarded as secondary to disease. This alternative seems less likely since we must then suppose that the normalcy of functional assays in spurious.     

Refining the genetic location of the gene for X linked hydrocephalus within Xq28

The most common inherited form of hydrocephalus, X linked hydrocephalus (HSAS), is characterised by mental retardation, adducted thumbs, and spastic paraplegia. Genetic analysis has mapped the locus for HSAS to subchromosomal band Xq28 within a region of approximately 2 megabases of DNA. In order to refine the location of the disease gene we have conducted genetic linkage analysis with Xq28 marker loci in four additional HSAS families. A lod score of 4.26 with polymorphic marker DXS52 (St14) confirms the linkage of HSAS to Xq28. Identification of a recombination event between the HSAS gene and Xq28 loci F8C and DXS605 (2-19) reduces the size of the interval likely to contain the disease locus to about 1.5 megabases, the distance between DXS605 and DXS52. The locus for neural cell adhesion molecule, L1CAM, maps within this interval and therefore represents a candidate gene for HSAS.     

The role of the psychologist in advocacy for the handicapped.

Advocacy is a service independent of generic treatment services provided to the mentally handicapped. It is emerging because of the need for changes in mental health. There is both a compelling need and opportunity for psychologists to become advocates for the mentally handicapped. It is commented that it is a role, however, too seldom played by psychologists and that this underrepresentation is a disservice to both psychologists and their clients. The rationale for casting psychologists as advocates is examined, and an example of interdisciplinary advocacy is presented. (7 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Ureteric stents: investigating flow and encrustation

Blockages of the ureter, e.g. due to calculi (kidney stones), can result in an increase in renal pelvic pressure. This may be relieved by inserting a stent (essentially a permeable hollow tube). However, a number of complications are associated with stent use. Stents can result in reflux (backflow of urine along the ureter), which will promote recurrent urinary infection and possible renal parenchymal damage. Furthermore, long-term stent use is associated with infection and precipitation of salts from the urine, which can lead to a build-up of crystalline deposits on the stent surface, making stent removal difficult and painful. This paper examines factors governing urine flow in a stented ureter, the implications for reflux, and the processes by which the stent surface encrusts, in particular focusing on the influence of bacterial infection. An interdisciplinary approach is adopted, involving a combination of theoretical investigations and novel experiments.