Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

Molecular screening for pathogenic mutations in sudden cardiac death (SCD)-related genes is common practice for SCD cases. However, test results may lead to uncertainty because of the identification of variants of unknown significance (VUS) occurring in up to 70% of total identified variants due to a lack of experimental studies. Genetic variants affecting potential splice site variants are among the most difficult to interpret. The aim of this study was to examine rare intronic variants identified in the exonic flanking sequence to meet two main objectives: first, to validate that canonical intronic variants produce aberrant splicing; second, to determine whether rare intronic variants predicted as VUS may affect the splicing product. To achieve these objectives, 28 heart samples of cases of SCD carrying rare intronic variants were studied. Samples were analyzed using 85 SCD genes in custom panel sequencing. Our results showed that rare intronic variants affecting the most canonical splice sites displayed in 100% of cases that they would affect the splicing product, possibly causing aberrant isoforms. However, 25% of these cases (1/4) showed normal splicing, contradicting the in silico results. On the contrary, in silico results predicted an effect in 0% of cases, and experimental results showed >20% (3/14) unpredicted aberrant splicing. Thus, deep intron variants are likely predicted to not have an effect, which, based on our results, might be an underestimation of their effect and, therefore, of their pathogenicity classification and family members’ follow-up.     

Transplantectomy today: indications and complications

Analysis of the indications for transplantectomy and its complications over a 12-year period. Over a total of 159 failure grafts, we performed 53 transplantectomies (33.3%). The percentage of complications was 16.9%. Three patients died (5.6%) during the more or less immediate post-operative period. In our experience, consistent and prolonged maintenance of immunosuppression should avoid the need for transplantectomy in a high percentage of grafts. Only 15 transplantectomies were made on 104 failure grafts after 6 months (14.4%). Our short but successful experience with embolization of 2 rejected grafts confirms the validity of this conservative alternative versus conventional surgical transplantectomy in selected cases.     

Long-term contract auctions and market power in regulated power industries

A number of countries with oligopolistic power industries have used marginal cost pricing to set the price of energy for small customers. This course of action, however, does not necessarily ensure an efficient outcome when competition is imperfect. The purpose of this paper is to study how the auction of long-term contracts could reduce market power. We do so in a two-firm, two-technology, linear-cost, static model where demand is summarized by a price inelastic load curve. In this context we show that the larger the proportion of total demand auctioned in advance, the lower are both the contract and the average spot price of energy.     

Stabilization of nano-TiO2 aqueous dispersions with poly(ethylene glycol)-b-poly(4-vinyl pyridine) block copolymer and their incorporation in photocatalytic acrylic varnishes

In this work, TiO₂ nanoparticles were dispersed and stabilized in water using a novel type of dispersant based on tailor-made amphiphilic block copolymers of poly(ethylene glycol)-block-poly(4-vinyl pyridine) (mPEG-b-P4VP) prepared by atom transfer radical polymerization (ATRP). The performance of this new block copolymer as dispersant was compared to a polyelectrolyte dispersant commonly used for TiO₂, sodium salt of polyacrylic acid (Na-PAA). The effect of dispersion technique and type and amount of dispersant on deagglomeration and stability of the TiO₂ aqueous suspensions were studied. After incorporation in a standard waterborne acrylic varnish formulation, dry film transparency, photocatalytic activity, and nanoparticle cluster size were also evaluated. The results show that mPEG-b-P4VP copolymer with appropriate block lengths can have a better performance than Na-PAA in terms of aqueous dispersion stabilization and cluster size reduction in the acrylic matrix. This translates into higher film transparency and photocatalytic performance.     

Thermal behaviour assessment of a novel vertical greenery module system: first results of a long-term monitoring campaign in an outdoor test cell

Vertical greenery modular systems (VGMSs) are an increasingly widespread building envelope solution aimed at improving the aesthetical quality of both new and existing façades, contemporarily achieving high energy efficiency performance. Within a research project, a new prototype of VGMS was developed, designed and tested. An experimental monitoring campaign was carried out on a test cell located in Turin (northern Italy), aimed at assessing both biometric parameters and energy-related issues. Two different types of growing media and two plant species, Lonicera nitida L. and Bergenia cordifolia L., have been tested on a south-facing lightweight wall. Results have been compared to the same wall without VGMS and plaster finished, in order to characterise the thermal insulation effectiveness in the winter period and the heat gain reduction in the summer period. Measured equivalent thermal transmittance values of the green modular system showed a 40 % reduction, when compared to the plastered wall, thus noticeably impacting on the energy crossing the façade during the heating season. Benefits of the VGMS are measured also during the summer season, when the presence of vegetation lowers the outdoor surface temperatures of the wall up to 23 °C compared to the plastered finishing, with a positive effect on outdoor comfort and urban heat island mitigation. Nevertheless, as far as the entering energies are concerned, not significant reduction was observed for VGMS, compared to the reference plastered wall, since the green coverage acts as a thermal buffer and solar radiation is stored and slowly released to the indoor environment.     

Excretion of 35S-Tobias acid (2-naphthylamino, 1-sulphonic acid) by the rat after oral and intravenous administration

The lipid-lowering effects of 3 g of the nicotinic acid derivative pentaerythritoltetranicotinate (niceritrol) given either 1 g X 3 or 1.5 g X 2 have been evaluated in 18 subjects with hyperlipoproteinaemia. When 1 g niceritrol was given three times daily, the serum TG concentration fell from 3.14 +/- 0.48 to 1.86 +/- 0.18 mmol/1 (41% reduction) and the serum cholesterol concentration from 282 +/- 9 to 227 +/- 11 mg/100 ml (20% reduction). The same daily dose, given 1.5 g twice, did not significantly lower the serum TG concentration, and serum cholesterol was lowered by only 12%. Niceritrol tablets prepared with a dissolution time of 60 or 90 min had identical lipid-lowering properties. Although patients may find it practical to take niceritrol only twice daily, such a dose regimen has considerably less effect on elevated serum lipids than a thrice-daily regimen.     

Invertase activity in fresh and processed honeys

The enzymatic activities of 147 samples of commercially produced Spanish polyfloral and monofloral honeys are reported. Important variations in invertase activity and peroxide accumulation were determined to obtain objective information related to honey quality. Variations from 4.04 (Robinia pseudoacacia) to 25.61 g sucrose hydrolysed per 100 g h⁻¹ (SN) (Castanea sativa) and from 11.31 (Erica vagans) to 45.25 µg H₂O₂ g⁻¹ h⁻¹ (Hedysarum coronarium) were detected, with a range from 10.57 to 46.2 SN in polyfloral honeys. Honeys from Erica spp had different invertase activities—high for E cinerea (18.3 SN) and low for E vagans (8.36 SN). The different heating processes of honey have been evaluated to determine the best treatment for preserving invertase activity. The hydroxymethylfurfural content is not a sufficiently good indicator of the degree of deterioration of honey. Another objective was to assess the use of invertase activity in honey quality legislation. © 2000 Society of Chemical Industry     

Overdrive in the ramp histogram test of ADCs

This paper presents a study about the amount of overdrive to use when analog-to-digital converters (ADCs) are tested with the ramp histogram method. Overdrive is used to limit the error induced by input-equivalent noise in the estimation of the ADC transition voltages. This study has direct application in the new coarse ramp static test.     

Incorporating Waiting Time in Competitive Location Models

In this paper we propose a metaheuristic to solve a new version of the Maximum Capture Problem. In the original MCP, market capture is obtained by lower traveling distances or lower traveling time, in this new version not only the traveling time but also the waiting time will affect the market share. This problem is hard to solve using standard optimization techniques. Metaheuristics are shown to offer accurate results within acceptable computing times.