Ergonomic aspects of design of a cap with electronic obstacle detector for use by visually impaired people.

The first sentence of the Abstract should follow the word "Abstract." on the same line. The abstract should be clear, descriptive, self-explanatory and no longer than 200 words. It should also be suitable for publication in abstracting services. Do not include references or formulae in the abstract.

Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.

Haemophilia A (HA), the most commonly inherited bleeding disorder, has well known phenotype heterogeneity, influenced by the type of mutation, modulating factors and development of inhibitors. Nowadays, new technologies in association with bioinformatics tools allow a better genotype/phenotype correlation. With the main objective of identifying familial carrier women and to offer prenatal diagnosis, 141 HA patients belonging to 103 families, followed or referred to the Haemophilia Centre of CHC, E.P.E., were studied. Molecular diagnosis strategy was based on HA severity: IVS22 and IVS1 inversions, direct sequencing and MLPA technique. New missense and splicing mutations were further analyzed using molecular modelling. Genotype/phenotype correlation was assessed taking into account the known modulating factors. During this study, mutations were detected in 102/103 families, carrier status was determined in 83 women and 14 prenatal diagnoses were performed. In a total of 46 different mutations identified, 15 have not been reported previously by the HAMSTeRS and HGMD. Genotype/phenotype correlation revealed two cases with a clinical picture less severe than expected by the type of mutation identified. Six patients developed inhibitors: five severe (IVS22, IVS1, large deletion) and one mild (p. Gln2265Lys). The adopted strategy allowed the identification of 99% of the molecular alterations underlying the HA phenotype (98% detection rate for severe and 100% for moderate and mild). Evaluation of genotype-phenotype correlation was complemented with structural protein modelling of newly identified missense mutations, contributing to better understanding of the disease-causing mechanisms and to deepening knowledge on protein structure-function.

The supplementation of low-P diets with microbial 6-phytase expressed in Aspergillus oryzae increases P and Ca digestibility in growing pigs.

A trial was conducted to evaluate the dose response of a novel microbial 6-phytase expressed in Aspergillus oryzae (Ronozyme HiPhos; DSM Nutritional Products, Basel, Switzerland) in pigs. Forty-eight individually housed pigs (Landrace × Pietrain; 52 kg BW; 24 males and 24 females) were distributed among 6 experimental treatments consisting of a low-P diet (3.5 g P/kg; 1.1 g digestible P/kg), which was supplemented with 500, 1000, 2000, or 4000 units of phytase activity/kg, and a standard-P diet (4.5 g P/kg; 1.8 g digestible P/kg) that was supplemented with CaHPO(4). After 17 d, fresh feces were sampled from all pigs and the apparent total tract digestibility of DM, OM, ash, P, and Ca was measured using TiO(2) as indigestible marker. Blood samples were also obtained from each pig and serum was analyzed for P and Ca concentrations. The nonsupplemented low-P diet increased Ca and reduced P blood serum concentrations (P < 0.05) relative to the standard-P diet (10.8 vs. 10.2 and 6.7 vs. 7.7 mg/dL, respectively). Phytase supplementation of the low-P diet reduced Ca (from 10.8 to 9.9 mg/dL; linear, P < 0.001) and increased P concentrations (from 6.7 to 8.0 mg/dL; linear and quadratic, P < 0.001) in serum and reduced P concentration in feces (from 13.7 to 7.6 g/kg DM; linear and quadratic, P < 0.001). Phytase improved the total tract digestibility of P (from 29.0 to 62.3%; linear and quadratic, P < 0.001 and P < 0.05), Ca (from 54.0 to 75.7%; quadratic, P < 0.01), and ash (from 46.2 to 57.7%; quadratic, P < 0.01). In conclusion, the microbial 6-phytase tested improves the apparent total tract digestibility of P in growing pigs and reduces P excretion in feces in a dose-dependent manner.