Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction theta=0) was obtained for marker D2S2208 near the g-crystallin gene (CRYG) cluster. Sequencing of the coding regions of the CRYGA, B, C, and D genes showed the presence of a heterozygous C>A transversion in exon 2 of CRYGD that is associated with cataracts in this family. This mutation resulted in a proline to threonine substitution at amino acid 23 of the protein in the first of the four Greek key motifs that characterise this protein. We show that although the x ray crystallography modelling does not indicate any change of the backbone conformation, the mutation affects a region of the Greek key motif that is important for determining the topology of this protein fold. Our data suggest strongly that the proline to threonine substitution may alter the protein folding or decrease the thermodynamic stability or solubility of the protein. Furthermore, this is the first report of a mutation in this gene resulting in autosomal dominant congenital cerulean cataracts

High resolution numerical study of the Algiers 2001 flash flood: sensitivity to the upper-level potential vorticity anomaly

From 9 to 11 November 2001, intense cyclogenesis affected the northern coasts of Africa and more particularly the densely populated city of Algiers. During the morning of 10 November, more than 130 mm of precipitation was recorded at Bouzareah and resulted in mudslides which devastated the Bab-el-Oued district. This disaster caused more than 700 casualties and catastrophic damage. Like many other heavy rainstorms in the western Mediterranean, this event was associated with the presence of an upper-level trough materialized by a deep stratospheric intrusion and characterized by high potential vorticity values. In this study, the impact of this synoptic structure on the localization and intensity of the precipitation which affected Algiers is investigated using a potential vorticity (PV) inversion method coupled for the first time with the French non-hydrostatic MESO-NH model. A set of perturbed synoptic environments was designed by slightly modifying the extent and the intensity of the coherent potential vorticity structures in the operational ARPEGE analysis. It is shown that such modifications may have a strong impact on the fine-scale precipitation forecast in the Algiers region, thereby demonstrating the fundamental role played by the potential vorticity anomaly during this exceptional meteorological event

A new approach to sensitivity climatologies: the DTS-MEDEX-2009 campaign

Adaptive observation is an approach to improving the quality of numerical weather forecasts through the optimization of observing networks. It is sometimes referred to as Data Targeting (DT). This approach has been applied to high impact weather during specific field campaigns in the past decade. Adaptive observations may involve various types of observations, including either specific research observing platforms or routine observing platforms employed in an adaptive way. The North-Atlantic TReC 2003 and the EURORISK-PREVIEW 2008 exercises focused on the North-Atlantic and Western Europe areas using mainly routine observing systems. These campaigns also included Mediterranean cases. <br><br> The most recent campaign, DTS-MEDEX-2009, is the first campaign in which the DT method has been used to address exclusively Mediterranean high impact weather events. In this campaign, which is an important stage in the MEDEX development, only operational radiosonde stations and commercial aircraft data (AMDAR) have provided additional observations. Although specific diagnostic studies are needed to assess the impact of the extra-observations on forecast skill and demonstrate the effectiveness of DTS-MEDEX-2009, some preliminary findings can be deduced from a survey of this targeting exercise. <br><br> After a description of the data targeting system and some illustrations of particular cases, this paper attempts some comparisons of additional observation needs (through effectively deployed radio-soundings) with sensitivity climatologies in the Mediterranean. The first step towards a sensitivity climatology for Mediterranean cases of high impact weather is indirectly given by the frequency of extra-soundings launched from the network of radiosonde stations involved in the DTS-MEDEX-2009 campaign

Prevalence of psychosis in black ethnic minorities in Britain: analysis based on three national surveys

Purpose A considerable excess of psychosis in black ethnic minorities is apparent from clinical studies, in Britain, as in other developed economies with white majority populations. This excess is not so marked in population surveys. Equitable health service provision should be informed by the best estimates of the excess. We used national survey data to establish the difference in the prevalence of psychosis between black ethnic groups and the white majority in the British general population. Methods Analysis of the combined datasets (N = 26,091) from the British national mental health surveys of 1993, 2000 and 2007. Cases of psychosis were determined either by the use of the Schedules for Clinical Assessment in Neuropsychiatry (SCAN), or from a combination of screening items. We controlled for sex, age, social class, unemployment, design features and other putative confounders, using a Disease Risk Score. Results People from black ethnic minorities had an excess prevalence rate of psychosis compared with the white majority population. The OR, weighted for study design and response rate, was 2.72 (95 % CI 1.3–5.6, p = 0.002). This was marginally increased after controlling for potential confounders (OR = 2.90, 95 % CI 1.4–6.2, p = 0.006). Conclusions The excess of psychosis in black ethnic minority groups was similar to that in two previous British community surveys, and less than that based on clinical studies. Even so it confirms a considerable need for increased mental health service resources in areas with high proportions of black ethnic minority inhabitants

Quantum fluctuations of D5dD_{5d} polarons on C60C_{60} molecules

The dynamic Jahn-Teller splitting of the six equivalent $D_{5d}$ polarons due to quantum fluctuations is studied in the framework of the Bogoliubov-de Gennes formalism. The tunneling induced level splittings are determined to be $^2 T_{1u} \bigoplus ^2 T_{2u}$ and $^1 A_g \bigoplus ^1 H_g$ for $C_{60}^{1-}$ and $C_{60}^{2-}$, respectively, which should give rise to observable effects in experiments.Comment: REVTEX 3.0, 13 pages, to be published in Phys. Rev.