Revue des expériences concernant les instruments économiques pour atténuer le stress hydrique

Rapport réalisé dans le cadre du Projet AQUASTRESS "Mitigation of Water Stress through new Approaches to Integrating Management, Technical, Economic and Institutional Instruments"Deliverable 3.6-1 is composed of two parts. Part (a) is a literature review on the experience of economic instruments for water stress mitigation. Part (b) is a report on test-sites experience from the use of economic instruments for water demand and supply management and water stress mitigation

Revue des expériences concernant les instruments économiques pour atténuer le stress hydrique

Deliverable 3.6-1 is composed of two parts. Part (a) is a literature review on the experience of economic instruments for water stress mitigation. Part (b) is a report on test-sites experience from the use of economic instruments for water demand and supply management and water stress mitigation

Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence

The large size of the multinucleated muscle fibers of skeletal muscle makes their examination for structural and pathological defects a challenge. Sections and single fibers are accessible to antibodies and other markers but imaging of such samples does not provide a three-dimensional view of the muscle. Regrettably, bundles of fibers cannot be stained or imaged easily. Two-photon microscopy techniques overcome these obstacles. Second harmonic generation (SHG) by myosin filaments and two-photon excited fluorescence (2PEF) of mitochondrial and lysosomal components provide detailed structural information on unstained tissue. Furthermore, the infrared exciting light can penetrate several layers of muscle fibers and the minimal processing is particularly valuable for fragile biopsies. Here we demonstrate the usefulness of SHG, combined with 2PEF, to reveal enlarged lysosomes and accumulations of non-contractile material in muscles from the mouse model for the lysosomal storage disorder Pompe Disease (PD), and in biopsies from adult and infant PD patients. SHG and 2PEF also detect sarcomeric defects that may presage the loss of myofibrils in atrophying muscle and signify loss of elasticity. The combination of SHG and 2PEF should be useful in the analysis and diagnosis of a wide range of skeletal muscle pathologies

Substrate reduction therapy in the infantile form of Tay-Sachs disease.

Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid a-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes.We report here the complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII. Twelve novel alleles have been identified: missense mutations were functionally characterized by enzyme activity and protein processing in a human GAA-deficient cell line while splicing mutations were studied by RT-PCR and in silico analysis. A complex allele was also identified carrying three different alterations in cis. The c.-32-13T4G was the most frequent mutation, present as compound heterozygote in 85% of the patients (allele frequency 42.3%), as described in other late onset GSDII Caucasian populations. Interestingly, the c.-32-13T4G was associated with the c.2237G4A (p.W746X) in nine of the 40 patients. Genotype phenotype correlations are discussed with particular emphasis on the subgroup carrying the c.-32- 13T4G/c.2237G4A genotype