Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

Aims: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family. Methods: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene. Results: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C>G mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family. Conclusions: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females

The effects of 23 October and 9 November 2011 earthquakes on spatial transformation of the Van City

Earthquakes of 23 October 2011 and 9 November 2013 caused significant destruction on existing built-up areas of Van City, Turkey and had led to great loss of life and property. With the aim of identifying the effects of these two high-destructive earthquakes on spatial transformation process of the city, as well as to evaluate applied urban transformation strategies concerning to remove and mitigate the unfavourable effects of these earthquakes, maximum likelihood classification (MLC) is applied on related RapidEye satellite images to find out the urban macro-form changes, the change detection outputs by means of MLC results of the RapidEye satellite images dated before and after earthquakes which indicate that the overall accuracies are computed over 80%. The general results also reveal that the accuracies obtained are very promising to analyse spatial effect of the earthquakes on spatial transformation of the city. The identified findings of this analysis provide useful inputs to forthcoming researches aiming to evaluate the success of those kinds of urban transformation processes that may occur after similar natural disaster cases

Determination of difference between groups in multivariate analysis of variance: An application [Çok degişkenli varyans analizinde gruplar arasindaki farkin tespiti: Bir uygulama]

Objective: Although there is a healthy trend toward employment of multivariate analysis of variance (MANOVA) in the analysis of data from experiments which involve multiple dependent variables, there remains a need to demonstrate the wide variety of data analytic techniques available for post hoc analysis of statistically significant multivariate results. As a post-hoc test, using Stepdown Analysis after MANOVA was explained with application in this study, Material and Methods: In this study, the data set were used that contain 19 healthy (control group) pregnant, 21 pre-eclamptic pregnant and 11 eclamptic pregnant, who submitted to Obstetric and Gynecologist Department of Research Hospital of Y. Y. University Medical School between 2004-2005 years. Urinary protein, systolic blood pressure, lactate dehydrogenase, alanine amino transferase, aspartat transaminase, malonyl dialdehyde and platelets measurements were measured from pregnants. Results: It showed that urinary protein, systolic blood pressure and LDH were affected on groups' differences according to results of Stepdown analysis. Conclusion: Stepdown analysis, a test for the incremental discriminatory power of a dependent variable after the effects of other dependent variables has been taken into account. This analysis is similar to stepwise regression or discriminant analysis in that it relies on a specific order of entry to determine how much an additional dependent variable adds to the explanation of the differences between the groups in the MANOVA analysis. Because of this properties, Stepdown analysis is a suitable post-hoc tes for MANOVA. Copyright © 2007 by Türkiye Klinikleri

Late cenozoic stress field in the Cameli Basin, SW Turkey

A history of deformation has been determined for the Cameli Basin located in the western part of the major Fethiye-Burdur Fault Zone, interpreted as the on-land continuation of Pliny-Strabo fault system (e.g., eastern boundary of the Hellenic Arc). Inversion of fault slip vectors affecting Mio-Pliocene to Quaternary formations in the Cameli Basin, in the southwestern segment of the transtensional Fethiye-Burdur Fault Zone, yields two different normal faulting stress regimes characterized by a roughly orthogonal set of extensional axes; a NW-SE (N129±19°E) ?3 axis and a NE-SW (N50±16°E) ?3 axis. The orientation of fault sets is predominantly around the NE-SW direction in the major Fethiye-Burdur Fault Zone, making the extension NW-SE. The mean R values are 0.74 and 0.69 for both extensions indicating a triaxial stress state, which is clearly different from radial extension and from transitional to strike-slip stress state. The NW-SE extension is probably responsible for the formation of the Cameli Basin during Mio-Pliocene time. In contrast, the inversion of focal mechanism solutions of shallow earthquakes occurring within the Cameli basin identifies a present-day, predominantly extensional stress regime, characterized by an approximately N-S (N184°E) ?3 axis, which has an R value of 0.637 indicating a triaxial stress state. The nearly orthogonal extensional stress regimes seem to have been acting contemporaneously with each other at different intensities from the Mio-Pliocene onwards in SW Turkey. This may be attributed to the geodynamic effects related to the subduction of the African plate beneath Anatolia, diffusing along Hellenic and Cyprus arcs and in the west-southwestward extrusion of Anatolia.Our hypothesis is that the cause of the early NW-SE extension is the slab-pull force due to the subduction process along the Cyprus arc, considered to be dominant up to Plio-Quaternary. The later NE-SW to present-day ~ N-S extension, dominant since the Plio-Quaternary, is related to the combined forces of the Anatolian extrusion and the subduction process along the Hellenic arc. © 2010 Elsevier B.V

Plio-quaternary stress regime in Eşen Çay Basin, SW Turkey

The Plio-Quaternary Eşen çay Basin is situated at the junction of Hellenic and Cyprus arcs in southwestern Turkey. The basin is important for understanding the tectonic evolution of the region in relation to the Hellenic and Cyprus arcs. Fault data from unconsolidated Pliocene and Quaternary deposits, as well as from pre-Pliocene lithologies, areanalysed in order to reconstruct the evolution of the stress field evolution from Pliocene onwards. Inversion of measured fault slip vector data identifies two main stress states: extensional and strike-slip. Both states are characterized by a NE-SW-trending minimum horizontal stress axis (?Hmin = ?3). The mean R value is 0.67, indicating a triaxial state of stress. The inversion also indicates the existence of extensional and strike-slip faulting characterized by a NW-SE-trending ?3 axis. This indicates a change in the direction of the minimum horizontal stress axis (?3) from a NW-SE-trending ?3 that dominated prior to Quaternary to a NE-SW-trending ?3 that dominated during Quaternary up to actual time. © The Geological Society of London 2013