A point mutation associated with a severe phenotype of neurofibromatosis 2

Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas and other nonmalignant tumors of the brain, spinal cord, and peripheral nerves. Although the average age of onset of NF2 is 20 years, some individuals may become symptomatic in childhood. We studied 5 unrelated NF2 patients who became symptomatic before age 13. All 5 had multiple tumors in addition to vestibular schwannoma, and none had a positive family history. Sequence analysis of the NF2 gene revealed identical nonsense mutation of exon 6 in 3 patients. Because this mutation destroys a restriction enzyme recognition site, genomic DNA from the 2 other children was directly tested for this change and identical alterations were detected. Although the work of our laboratory and others has not, in general, detected identical mutations in unrelated patients, this mutation seems to occur particularly frequently in the pediatric population and thus may be associated with an especially severe phenotype. Restriction analysis in children with NF2 may be a cost effective way of identifying their mutation. Further work is needed to characterize the effects of this change on the NF2 protein product and its relationship to this severe phenotype.     

Bacillary angiomatosis and bacillary peliosis in patients infected with human immunodeficiency virus: clinical characteristics in a case-control study

Clinical characteristics associated with bacillary angiomatosis and bacillary peliosis (BAP) in patients with human immunodeficiency virus (HIV) infection were evaluated in a case-control study; 42 case-patients and 84 controls were matched by clinical care institution. Case-patients presented with fever (temperature, > 37.8 degrees C; 93%), a median CD4 lymphocyte count of 21/mm3, cutaneous or subcutaneous vascular lesions (55%), lymphadenopathy (21%), and/or abdominal symptoms (24%). Many case-patients experienced long delays between medical evaluation and diagnosis of BAP (median, 4 weeks; range, 1 day to 24 months). Case-patients were more likely than controls to have fever, lymphadenopathy, hepatomegaly, splenomegaly, a low CD4 lymphocyte count, anemia, or an elevated serum level of alkaline phosphatase (AP) (P < .001). In multivariate analysis, a CD4 lymphocyte count of < 200/mm3 (matched odds ratio [OR], 9.9; P < .09), anemia reflected by a hematocrit value of < 0.36 (OR, 19.7; P < .04), and an elevated AP level of > or = 2.6 mukat/L (OR, 23.9; P < .05) remained associated with disease after therapy with zidovudine was controlled for. BAP should be considered an AIDS-defining opportunistic infection and should be included in the differential diagnosis for febrile, HIV-infected patients with cutaneous or osteolytic lesions, lymphadenopathy, abdominal symptoms, anemia, or an elevated serum level of AP.     

Contribution of listeners' approaching motion to auditory distance perception.

Of the several sources of acoustic information for distance perception, those arising from motion of the listener or sound source have received little attention. This motion-related information (recently called acoustic tau) is described, and experiments evaluating its utilization are presented. Accuracy and consistency at walking to the locations of briefly presented sounds were better when people listened while walking than while standing still. Manipulations of the sound to simulate shorter or longer target distances produced appropriate undershooting but not overshooting. The results indicate that people use motion-related acoustic information about distance to guide their locomotor actions, although they do not take full advantage of this information. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Structure effects of double D-amino acid replacements: a nuclear magnetic resonance and circular dichroism study using amphipathic model helices

D-Amino acid replacements and the determination of resulting structural changes are a useful tool to recognize amphipathic helices in biologically active peptides such as neuropeptide Y and corticotropin-releasing factor. In this paper the secondary structures of one amphipathic alpha-helical peptide and its double D-amino acid analog have been determined by means of 1H NMR and CD spectroscopies under equivalent conditions. The chemical shifts (NH and C alpha H) and the analysis of nuclear Overhauser effects show a split of the continuous helix for the all-L peptide into two helices at the position of double D-amino acid replacement. Hydrogen exchange rates correlate with water accessibilities in the hydrophobic/hydrophilic face and confirm the amphipathic helical structure in the all-L peptide as well as in its double D-amino acid analog. A significantly accelerated hydrogen isotope exchange rate is observed for the D-Ala9 backbone proton, implying an increased flexibility at that position. These results show that the incorporation of an adjacent pair of D-amino acids only causes a local change in structure and flexibility, which makes the double D replacement interesting as a tool for specific helix-disturbing modifications to search for helical conformations in biologically active peptides.     

Growth rate and surface microstructure in α(6H)–SiC thin films grown by chemical vapor deposition

Monocrystalline 6H-SiC thin films have been epitaxially grown on off-axis 6H-SiC {0001} substrates in the temperature range of 1623–1873 K via chemical vapor deposition. The growth rate was a strong function of the growth temperature and the reactant gas concentration. The activation energies for growth were 64 kJ/mole and 55 kJ/mole for the (0001) Si face and the (0001) C face, respectively. The concentration of growth pits in the films increased as a function of decreasing deposition temperature, increasing concentration of reactant gases and increasing off-axis orientation. Beta-SiC islands were also observed in the epilayers when the (SiH₄ + C₂H₄)/H₂ ratio was ≥2.5:3000.     

Sensitization of the acoustic startle reflex by footshock.

Administration of footshock (500-ms duration, 0.2–2.4 mA) increased the amplitude of the startle reflex for a long time after its presentation. The effect occurred with a single footshock, although its magnitude and consistency across animals were greater with 5 or 10 footshocks presented 1/s. The facilitatory effect came on within 2–4 min with a 0.6-mA shock, peaking in about 10 min and then dissipating over the next 40 min. Stronger shocks also increased startle, but with a more delayed onset of facilitation (8–20 min). Footshocks increased startle in rats not previously given startle-eliciting stimuli, indicating sensitization rather than dishabituation. The facilitatory effect may not be attributable to a rapid conditioning to the experimental context, because a change in lighting conditions from shock presentation to testing did not attenuate shock sensitization. This excitatory effect of shock on startle may represent the unconditioned effect of shock that can become associated with a neutral stimulus to support classical fear conditioning. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Loss characteristics of high-/spl epsiv//sub r/ microstrip lines fabricated by an etchable thick-film on ceramic MCM technology

Etchable thick-film multi-chip-module (MCM) technology has led to the possibility of fabricating microwave integrated circuits (MICs) with performance similar to MICs produced using more expensive conventional thin-film MCM-D techniques. However, little data is available on the loss characteristics of the technology at microwave frequencies. This paper describes an experimental investigation into the loss properties of high-definition etchable thick-film MCM microstrip lines formed on a variety of high dielectric constant (high-/spl epsiv//sub r/) ceramic substrates. Substrates investigated comprise 96% alumina (/spl epsiv//sub r/=9.5), (Zr,Sn)TiO/sub 4/(/spl epsiv//sub r/=36.6) and BaO-PbO-Nd/sub 2/O/sub 3/-TiO/sub 2/ (/spl epsiv//sub r/=90.9). Microstrip loss properties are determined by fabricating a series of loosely coupled half-wave resonators on each substrate, with a range of characteristic impedance values. Measurements to 6 GHz are compared to those for similar lines fabricated using conventional thin-film MCM-D technology. The results demonstrate that etchable thick-film MCM technology provides many of the advantages of thin-film MCM-D technology, such as low-loss and high-definition conductors, and is suitable for the cost-effective fabrication of miniaturised high-performance microstrip MICs in high volume.     

The economics of energy efficiency for the poor—a South African case study

South Africa’s Reconstruction and Development Programme set ambitious goals for providing basic services to all, including housing and electrification. More efficient use of energy has the potential to socially and politically support these goals, particularly when it is targeted at low-income communities lacking adequate energy services. This paper examines the economics of energy efficiency for the urban poor from the perspective of society, utilities and poor consumers, using five example programmes. While the five energy efficiency programmes generally have significant economic and environmental benefits from a social perspective, they may not be as attractive to utilities and consumers. Also examined are the policy options for overcoming the significant barriers to energy efficiency, and ways government can bridge the gap between what is good for society and what is good for the electricity industry.