Point Mutations in the Monocarboxylate Transporter SLC16A12 Lead to Juvenile and Age-Related Cataract

Purpose: Previously we reported on a premature termination mutation in SLC16A12 that leads to dominant juvenile cataract and renal glucosuria. To assess the mutation rate and genotype-phenotype correlations of SLC16A12 in juvenile or age-related forms of cataract, we performed a mutation screen in cataract patients. Methods: Clinical data of approximately 660 patients were collected, genomic DNA was isolated and analyzed. Exons 3 to 8 including flanking intron sequences of SLC16A12 were PCR amplified and DNA sequence was determined. Selected mutations were tested by cell culture assays, in silico analysis and RT-PCR. Results: We found sequence alterations at a rate of approximately 1/75 patients. None of them was found in 360 control alleles. Alterations affect splice site and regulatory region but most mutations caused an amino acid substitution. The majority of the coding region mutations maps to trans-membrane domains. One mutation located to the 5'UTR. It affects translational efficiency of SLC16A12. In addition, we identified a cataract-predisposing SNP in the non-coding region that causes allele-specific splicing of the 5'UTR region. Conclusions: Altered translational efficiency of the solute carrier SLC16A12 and its allele-specific splicing strongly support a model of challenged homeostasis to cause various forms of cataract. In addition, the pathogenic property of the here reported sequence alterations is supported by the lack of known sequence variations within the coding region of SLC16A12. Due to the relatively high mutation rate, we suggest to include SLC16A12 in diagnostic cataract screening. Generally, our data recommend the assessment of regulatory sequences for diagnostic purposes.

City of Strawberry Point, June 30, 2003

City Audit Report

Mobile or fixed bearing for total knee arthroplasty? Ambulatory gait analysis results

Background: Mobile-bearing knee replacements have some theoretical advantages over fixed-bearing devices. However, very few randomized controlled clinical trials have been published to date, and studies showed little clinical and subjective advantages for the mobile-bearing using traditional systems of scoring. The choice of the ideal outcome measure to assess total joint replacement remains a complex issue. However, gait analysis provides objective and quantifying evidences of treatment evaluation. Significant methodological advances are currently made in gait analysis laboratories and ambulatory gait devices are now available. The goal of this study was to provide gait parameters as a new objective method to assess total knee arthroplasty outcome between patients with fixed- and mobile-bearing, using an ambulatory device with minimal sensor configuration. This randomized controlled double-blind study included to date 14 patients: the gait signatures of four patients with mobile-bearing were compared to the gait signatures of nine patients with fixed-bearing pre-operatively and post-operatively at 6 weeks, 3 months and 6 months. Each participant was asked to perform two walking trials of 30m long at his/her preferred speed and to complete a EQ-5D questionnaire, a WOMAC and Knee Society Score (KSS). Lower limbs rotations were measured by four miniature angular rate sensors mounted respectively, on each shank and thigh. A new method for a portable system for gait analysis has been developed with very encouraging results regarding the objective outcome of total knee arthroplasty using mobile- and fixed-bearings.

[Flot d'automobiles et foule importante, rond-point des Champs-Elysées, pylônes dédiés aux batailles de l'Ourcq et de la Marne, allégorie de la victoire, autour du 13 juillet 1919] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54836

[Passants au pied des pylônes dédiés à la bataille de l'Yser, allégorie de la victoire, rond-point des Champs-Elysées, près du Grand Palais, autour du 13 juillet 1919] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54839

[Foule importante au rond-point des Champs-Elysées, pylônes dédiés aux batailles de l'Ourcq, de la Marne et de l'Argonne, allégorie de la victoire, autels des cités martyres Arras et Soissons, autour du 13 juillet 1919] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54842

[Foule au rond-point des Champs-Elysées, au pied des pylônes dédiés à la bataille de l'Ourcq, allégorie de la victoire, et autel de la cité martyre Arras, autour du 13 juillet 1919] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54841

[Foule importante au rond-point des Champs-Elysées, pylônes dédiés aux batailles de l'Argonne et de l'Aisne, allégorie de la victoire, pyramide de canons pris à l'ennemi, autel de la cité martyre Verdun, autour du 13 juillet 1919] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54843

Report on Special Investigation of the Central Point Coordination for Calhoun and Pocahontas Counties for the Period July 1, 1998 through May 31, 2004

Report on a Special Investigation of the Central Point Coordination for Calhoun and Pocahontas Counties.

The effect of atmospheric absorption of sunlight on the runaway greenhouse point

The longwave emission of planetary atmospheres that contain a condensable absorbing gas in the infrared (i.e., longwave), which is in equilibrium with its liquid phase at the surface, may exhibit an upper bound. Here we analyze the effect of the atmospheric absorption of sunlight on this radiation limit. We assume that the atmospheric absorption of infrared radiation is independent of wavelength except within the spectral width of the atmospheric window, where it is zero. The temperature profile in radiative equilibrium is obtained analytically as a function of the longwave optical thickness. For illustrative purposes, numerical values for the infrared atmospheric absorption (i.e., greenhouse effect) and the liquid vapor equilibrium curve of the condensable absorbing gas refer to water. Values for the atmospheric absorption of sunlight (i.e., antigreenhouse effect) take a wide range since our aim is to provide a qualitative view of their effects. We find that atmospheres with a transparent region in the infrared spectrum do not present an absolute upper bound on the infrared emission. This result may be also found in atmospheres opaque at all infrared wavelengths if the fraction of absorbed sunlight in the atmosphere increases with the longwave opacity

City of Center Point, Independent Auditor's Reports, Financial Statements and Supplemental Information, Schedule of Findings, June 30, 2003

City Audit Report

[Foule importante au rond-point des Champs-Elysées, pylônes dédiés aux batailles de Verdun et Grand-Couronné, allégorie de la victoire, autels des cités martyres, autour du 13 juillet 1919] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54855

[Foule importante au rond-point des Champs-Elysées, pylônes dédiés aux batailles d'Alsace et de la Somme, allégorie de la victoire, pyramide de canons pris à l'ennemi, autels des cités martyres, autour du 13 juillet 1919] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54852

[Foule importante au rond-point des Champs-Elysées, pylônes dédiés à la bataille du Grand Couronné, allégorie de la victoire, pyramide de canons pris à l'ennemi, autel de la cité martyre Verdun, autour du 13 juillet 1919] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54844