Primary hyperoxaluria

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder among Caucasians and is caused by abnormalities in the cystic fibrosis transmembrane conductance regulator gene (CFTR). CFTR gene encodes a chloride channel that regulates secretion in many exocrine tissues especially pancreatic and pulmonary tissues. The clinical presentation of cystic fibrosis is highly variable with isolated CAVD (congenital absence of vas deferens) and/or typical pancreatic and pulmonary manifestations. Over 500 mutations in the CFTR gene have been described and vary among different geographic locations. The severity of clinical manifestations and specially the pulmonary disease is poorly correlated with genotype. It is interesting to collect clinical and genetical data by analysing a larger cohort of CF patients. These results are likely to improve our understanding of the physiopathology of CF and the genetic counselling; particular biochemical defect could lead to more specific treatments in the future. From our 110 patients selected in Champagne-Ardenne country, we analysed the entire coding sequence of CFTR gene and detected 95% of CF mutations and in fact, 89.5% if we include the CAVD patients; 59.4% of CF mutations were detected for these patients. Three new mutations have been here reported. We found numerous CF mutations with a large distribution throughout the gene. Nevertheless, three exons are mainly involved: 10, 11 and 21. Relationships between the genotype and phenotype are difficult to assess.     

HIV-1 and HIV-2 antibodies in pregnant women in the City of Maputo, Mozambique. A comparative study between 1982/1983 and 1990

The seroprevalence of HIV-1 and HIV-2 among pregnant women in Maputo, the capital of Mozambique, was compared between the years 1982/83, 1988 and 1990. None of the 432 serum samples collected in 1982/83 was positive for HIV antibodies whereas in 1988 the HIV-1 and HIV-2 seroprevalence was 0.4% (2/500) and 0.6% (3/500), respectively, and in 1990 0.6% (12/2014) and 0.2% (4/2014), respectively. These results indicate that HIV infection has been introduced recently in Maputo and is spreading at a slow rate among women.     

Left ventricular outflow tract obstruction after mitral valve replacement

A method of posterior mitral annulus remodeling is presented. The posterior annulus is divided into three segments, each segment encircled by a suture that is passed in a tourniquet. Coaptation of the leaflets can be achieved by tightening the tourniquets while the ventricle is being filled. This technique is simple and quick, avoids the use of foreign material, and requires less expertise and judgment than traditional annuloplasties.     

pH titration of native and unfolded beta-trypsin: evaluation of the delta delta G0 titration and the carboxyl pK values

The stabilizing free energy of beta-trypsin was determined by hydrogen ion titration. In the pH range from 3.0 to 7.0, the change in free energy difference for the stabilization of the native protein relative to the unfolded one (delta delta G0 titration) was 9.51 +/- 0.06 kcal/mol. An isoelectric point of 10.0 was determined, allowing us to calculate the Tanford and Kirkwood electrostatic factor w. This factor presented a nonlinear behavior and indicated more than one type of titratable carboxyl groups in beta-trypsin. In fact, one class of carboxyl group with a pK = 3.91 +/- 0.01 and another one with a pK = 4.63 +/- 0.03 were also found by hydrogen ion titration of the protein in the folded state.     

The dependence of stress induced voiding on line width studied by conventional and high resolution resistance measurements

The degradation due to stress induced voiding of nitride passivated Al-1 wt.% Si and Ti/TN/ Al-1wt.% Si-0.5 wt. % Cu/Ti/TN interconnects with widths ranging between 0.4 and 1.2 μm was studied by in-situ conventional high resolution resistance measurements (HRRM) during storage at temperatures between 168 and 240°C. The conventional measurements on Al-Si lines, which lasted more than one year, clearly showed that the interconnect lifetime decreases with decreasing line width. With HRRM the degradation due to stress induced voiding can be detected much sooner and with much more detail. From the HRRM it is clear that the resistance changes during storage often happen in jumps and that the degradation has a rather complex alloy, line width and temperature dependence. Both for 0.4 and 0.6 μm wide Al---Si lines more degradation occurred for storage at 175 °C compared to storage at 200 °C. For the Al---Si---Cu stacks the degradation of 0.4 μm wide lines was worse for storage at 240°C compared to storage at 200 °C, but the opposite was true for the 0.6 μm wide lines.     

Background memory area estimation for multidimensional signalprocessing systems

Memory cost is responsible for a large amount of the chip and/or board area of customized video and image processing system realizations. In this paper, we present a novel technique-founded on data-flow analysis which allows one to address the problem of background memory size evaluation for a given nonprocedural algorithm specification, operating on multidimensional signals with affine indexes. Most of the target applications are characterized by a huge number of signals, so a new polyhedral data-flow model operating on groups of scalar signals is proposed. These groups are obtained by a novel analytical partitioning technique, allowing to select a desired granularity, depending on the application complexity. The method incorporates a way to tradeoff memory size with computational and controller complexity