Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H+ -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status. Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL. Finally, analysis of the SLC4A1 gene in those patients with a negative result for the previous studies. Methods: 25 children (19 boys) with dRTA from 20 families of Tunisian origin were studied. DNAs were extracted by the standard phenol/chloroform method. Molecular analysis was performed by PCR amplification and direct sequencing. Results: In the index cases, ATP6V1B1 gene screening resulted in a mutation detection rate of 81.25%, which increased up to 95% after ATP6V0A4 gene analysis. Three ATP6V1B1 mutations were observed: one frameshift mutation (c.1155dupC; p.Ile386fs), in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site (c.175-1G > C; p.?) in intron 2, and one novel missense mutation (c. 1102G > A; p. Glu368Lys), in exon 11. We also report four mutations in the ATP6V0A4 gene: one single nucleotide deletion in exon 13 (c.1221delG; p. Met408Cysfs* 10); the nonsense c.16C > T; p.Arg6*, in exon 3; and the missense changes c.1739 T > C; p.Met580Thr, in exon 17 and c.2035G > T; p.Asp679Tyr, in exon 19. Conclusion: Molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes was performed in a large Tunisian cohort with dRTA. We identified three different ATP6V1B1 and four different ATP6V0A4 mutations in 25 Tunisian children. One of them, c.1102G > A; p.Glu368Lys in the ATP6V1B1 gene, had not previously been described. Among deaf since childhood patients, 75% had the ATP6V1B1 gene c. 1155dupC mutation in homozygosis. Based on the results, we propose a new diagnostic strategy to facilitate the genetic testing in North Africans with dRTA and SNHL.

Daily scale wintertime sea surface temperature and IPC-Navidad variability in the southern Bay of Biscay from 1981 to 2010

The combination of remotely sensed gappy Sea surface temperature (SST) images with the missing data filling DINEOF (data interpolating empirical orthogonal functions) technique, followed by a principal component analysis of the reconstructed data, has been used to identify the time evolution and the daily scale variability of the wintertime surface signal of the Iberian Poleward Current (IPC), or Navidad, during the 1981-2010 period. An exhaustive comparison with the existing bibliography, and the vertical temperature and salinity profiles related to its extremes over the Bay of Biscay area, show that the obtained time series accurately reflect the IPC-Navidad variability. Once a time series for the evolution of the SST signal of the current over the last decades is well established, this time series is used to propose a physical mechanism in relation to the variability of the IPC-Navidad, involving both atmospheric and oceanic variables. According to the proposed mechanism, an atmospheric circulation anomaly observed in both the 500 hPa and the surface levels generates atmospheric surface level pressure, wind-stress and heat-flux anomalies. In turn, those surface level atmospheric anomalies induce mutually coherent SST and sea level anomalies over the North Atlantic area, and locally, in the Bay of Biscay area. These anomalies, both locally over the Bay of Biscay area and over the North Atlantic, are in agreement with several mechanisms that have separately been related to the variability of the IPC-Navidad, i.e. the south-westerly winds, the joint effect of baroclinicity and relief (JEBAR) effect, the topographic beta effect and a weakened North Atlantic gyre.

Performance of an Ocean Energy Conversion System with DFIG Sensorless Control

The 2009/28/EC Directive requires Member States of the European Union to adopt a National Action Plan for Renewable Energy. In this context, the Basque Energy Board, EVE, is committed to research activities such as the Mutriku Oscillating Water Column plant, OWC. This is an experimental facility whose concept consists of a turbine located in a pneumatic energy collection chamber and a doubly fed induction generator that converts energy extracted by the turbine into a form that can be returned to the network. The turbo-generator control requires a precise knowledge of system parameters and of the rotor angular velocity in particular. Thus, to remove the rotor speed sensor implies a simplification of the hardware that is always convenient in rough working conditions. In this particular case, a Luenberger based observer is considered and the effectiveness of the proposed control is shown by numerical simulations. Comparing these results with those obtained using a traditional speed sensor, it is shown that the proposed solution provides better performance since it increases power extraction in the sense that it allows a more reliable and robust performance of the plant, which is even more relevant in a hostile environment as the ocean.

Taxonomy and distribution of the boring sponges (Clionidae) along the Atlantic coast of North America

Covers the history of the study of boring sponges, taxonomy and distributions. Also includes identification of species, descriptions, key, references and plates. (PDF contains 30 pages)

Die Überwachungsprogramme der internationalen Meeresschutzkonventionen für Nord- und Ostsee

The international conventions for the protection of the marine environment of the North-east Atlantic Ocean including the North Sea (OSPAR) and the Baltic Sea (HELCOM) as well as the International Council for the Exploration of the Sea (ICES) have modified their structures in the recent years towards a strategy directed approach. Committees and working groups have partly changed only their names but in many cases also the scope of their subjects. In the last two years activities have been initiated to coordinate the tasks of the marine conventions and the European Union and to merge them as much as meaningful and practicable, under a common EU Marine Strategy. This article will reflect how the organisational structures have changed since the last restructuring in the first half of the nineties, and how the contaminant and bioeffect monitoring activities of the Federal Research Centre for Fisheries are implemented in these international conventions.

Die Fischerei im Nordostatlantik im Jahre 2004

Since 1990 North-east Atlantic fish species – arctic cod, saithe, haddock, redfish and Greenland halibut – have been investigated by on-board observers on the German commercial trawler FMS Kiel. These investigations are part of the national data collection regulation established by the European Union in recent years. Collected data are basic data for the scientific assessment of these important fish stocks of the European fisheries. The results of the observed cruises are used by the Arctic Fisheries Working Group of the International Council for the Exploration of the Seas (ICES). Biological investigations were carried out in Norwegian waters and the Barents Sea (ICES Divisions IIa and IIb) on board FMS Kiel in January to March and in August/September 2004. This report presents results of these cruises and an overview about the general fishery situation in 2004.

A proposed integrated livestock-rice-poultry-cum-fish culture in enclosure system

Integrated agriculture-cum-fish farming has been practised profitably for ages in the Chinese small-scale farming system. There is a great potential for this system by utilizing the vast Nigerian flood plains (approx. 515,000 ha). Dogongari Bay in Lake Kainji Basin was identified as a suitable site for this system after some extensive fish culture trials. Polyculture of Clarias spp., Heterotis niloticus and Tilapia was proposed for integration with layers in the poultry house, 2-ha upland rain-fed rice farming and indirect cattle rearing in the 5-ha enclosure site. Cost benefit analysis showed that the system will consistently record profit as from the second year of operation. Various complex factors were identified to affect profitability of this mixed farming system. Concerted research approach is needed to fully understand the interrelationships of the various components of this integrated system. Generous funding of research activities is very crucial in this situation

Species Profiles: Life Histories and Environmental Requirements of Coastal Fishes and Invertebrates (Mid-Atlantic): Alewife/Blueback Herring

This profile covers life history and environmental requirements of both alewife (Alosa pseudoharengus) and blueback herring (Alosa aestivalis), since their distribution is overlapping and their morphology, ecological role, and environmental requirements are similar. The alewife is an anadromous species found in riverine, estuarine, and Atlantic coastal habitats, depending on life cycle stage, from Newfoundland (Winters et al. 1973) to Soutn Carolina (Berry 1964). Landlocked populations are i n the Great Lakes, Finger Lakes, and many other freshwater lakes (Bigelow and Sch roeder 1953; Scott and Crossman 1973). The blueback herring is an anadromous species found in riverine, estuarine, and Atlantic coastal habitats, depending on life stage cycle, from Nova Scotia to the St. Johns River, Florida (Hildebrand 1963)