Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Integrating transposable elements in the 3D genome

Chromosome organisation is increasingly recognised as an essential component of genome regulation, cell fate and cell health. Within the realm of transposable elements (TEs) however, the spatial information of how genomes are folded is still only rarely integrated in experimental studies or accounted for in modelling. Whilst polymer physics is recognised as an important tool to understand the mechanisms of genome folding, in this commentary we discuss its potential applicability to aspects of TE biology. Based on recent works on the relationship between genome organisation and TE integration, we argue that existing polymer models may be extended to create a predictive framework for the study of TE integration patterns. We suggest that these models may offer orthogonal and generic insights into the integration profiles (or "topography") of TEs across organisms. In addition, we provide simple polymer physics arguments and preliminary molecular dynamics simulations of TEs inserting into heterogeneously flexible polymers. By considering this simple model, we show how polymer folding and local flexibility may generically affect TE integration patterns. The preliminary discussion reported in this commentary is aimed to lay the foundations for a large-scale analysis of TE integration dynamics and topography as a function of the three-dimensional host genome

Face familiarity, distinctiveness, and categorical perception

Four experiments with faces support the original interpretation of categorical perception (CP) as only present for familiar categories. Unlike in the results of Levin and Beale (2000), no evidence is found for face identity CP with unfamiliar faces. Novel face identities were shown to be capable of encoding for immediate sorting purposes but the representations utilized do not have the format of perceptual categories. One possibility explored was that a choice of a distinctive face as an end-point in a morphed continuum can spuriously produce effects that resemble CP. Such morphed continua provided unequal psychological responses to equal physical steps though much more so in a better likeness paradigm than for forced-choice recognition. Thus, researchers doing almost the same experiments may produce very different results and come to radically different conclusions

Extreme geomagnetic field variability indicated by Eastern Mediterranean full-vector archaeomagnetic records

The magnetic field of the Earth can exhibit considerable variations at short time scales, even as short as decades. The archaeomagnetic studies of Middle Eastern artefacts (mainly from Israel and Jordan) show evidence for an exceptionally high intensity period from 1050-700 BC which displays two distinct spikes over the Levant, the Levantine Iron Age Anomaly (LIAA). Its exact duration and geographical extent are still poorly known. Despite the wealth of ancient settlements, the extensive cultural heritage and a long history of trade and immigration, the archaeomagnetism of Turkey and Cyprus remains largely unexplored. This study presents a large data set of ancient directions and intensities from seven archaeological sites in the Eastern Mediterranean covering a time span of ∼2000 yrs. The recorded directions from thirteen sets of samples are coherent with our earlier findings, yet show significantly larger swings than existing field models. In particular, we confirm the very large swing in inclination we found earlier, from 1910-1850 BC, that is also captured by the Greek PSV curve, and shallower by more than 10° than predicted by existing field models. Consequently, these models require substantial revision in this region. We were able to determine the archaeointensity from five sets of mud-bricks, from the thirteen attempted, allowing us to provide the full field vector. Furthermore, we present thirty-one new archaeointensity results from potsherds and mud-bricks that considerably enhance existing data, especially when a set of strict selection criteria is applied. Fourteen sets of potsherds from a single site (Tell Atchana) provide the longest sequence recorded so far in Turkey, from 2100 to 1350 BC. We find exceptionally high intensities of 145 and 175 ZAm2 around 700 BC, in well-dated mud-bricks and potsherds from two different locations (Tell Tayinat and Kilise Tepe), supporting extreme geomagnetic field variability in the region. Moreover, these two high intensities confirm the younger spike of the LIAA in Turkey

“I Look in Your Eyes, Honey”: Internal Face Features Induce Spatial Frequency Preference for Human Face Processing

Numerous psychophysical experiments found that humans preferably rely on a narrow band of spatial frequencies for recognition of face identity. A recently conducted theoretical study by the author suggests that this frequency preference reflects an adaptation of the brain's face processing machinery to this specific stimulus class (i.e., faces). The purpose of the present study is to examine this property in greater detail and to specifically elucidate the implication of internal face features (i.e., eyes, mouth, and nose). To this end, I parameterized Gabor filters to match the spatial receptive field of contrast sensitive neurons in the primary visual cortex (simple and complex cells). Filter responses to a large number of face images were computed, aligned for internal face features, and response-equalized (“whitened”). The results demonstrate that the frequency preference is caused by internal face features. Thus, the psychophysically observed human frequency bias for face processing seems to be specifically caused by the intrinsic spatial frequency content of internal face features

Characterization of Genome-Wide Association-Identified Variants for Atrial Fibrillation in African Americans

Despite a greater burden of risk factors, atrial fibrillation (AF) is less common among African Americans than European-descent populations. Genome-wide association studies (GWAS) for AF in European-descent populations have identified three predominant genomic regions associated with increased risk (1q21, 4q25, and 16q22). The contribution of these loci to AF risk in African American is unknown.We studied 73 African Americans with AF from the Vanderbilt-Meharry AF registry and 71 African American controls, with no history of AF including after cardiac surgery. Tests of association were performed for 148 SNPs across the three regions associated with AF, and 22 SNPs were significantly associated with AF (P<0.05). The SNPs with the strongest associations in African Americans were both different from the index SNPs identified in European-descent populations and independent from the index European-descent population SNPs (r(2)<0.40 in HapMap CEU): 1q21 rs4845396 (odds ratio [OR] 0.30, 95% confidence interval [CI] 0.13-0.67, P = 0.003), 4q25 rs4631108 (OR 3.43, 95% CI 1.59-7.42, P = 0.002), and 16q22 rs16971547 (OR 8.1, 95% CI 1.46-45.4, P = 0.016). Estimates of European ancestry were similar among cases (23.6%) and controls (23.8%). Accordingly, the probability of having two copies of the European derived chromosomes at each region did not differ between cases and controls.Variable European admixture at known AF loci does not explain decreased AF susceptibility in African Americans. These data support the role of 1q21, 4q25, and 16q22 variants in AF risk for African Americans, although the index SNPs differ from those identified in European-descent populations

Physical properties of naked DNA influence nucleosome positioning and correlate with transcription start and termination sites in yeast

Abstract Background In eukaryotic organisms, DNA is packaged into chromatin structure, where most of DNA is wrapped into nucleosomes. DNA compaction and nucleosome positioning have clear functional implications, since they modulate the accessibility of genomic regions to regulatory proteins. Despite the intensive research effort focused in this area, the rules defining nucleosome positioning and the location of DNA regulatory regions still remain elusive. Results Naked (histone-free) and nucleosomal DNA from yeast were digested by microccocal nuclease (MNase) and sequenced genome-wide. MNase cutting preferences were determined for both naked and nucleosomal DNAs. Integration of their sequencing profiles with DNA conformational descriptors derived from atomistic molecular dynamic simulations enabled us to extract the physical properties of DNA on a genomic scale and to correlate them with chromatin structure and gene regulation. The local structure of DNA around regulatory regions was found to be unusually flexible and to display a unique pattern of nucleosome positioning. Ab initio physical descriptors derived from molecular dynamics were used to develop a computational method that accurately predicts nucleosome enriched and depleted regions. Conclusions Our experimental and computational analyses jointly demonstrate a clear correlation between sequence-dependent physical properties of naked DNA and regulatory signals in the chromatin structure. These results demonstrate that nucleosome positioning around TSS (Transcription Start Site) and TTS (Transcription Termination Site) (at least in yeast) is strongly dependent on DNA physical properties, which can define a basal regulatory mechanism of gene expression

Wild species of vaccinium composition, nutritional value and utilization

There are still, in many parts of the globe, some edible fruit collects from the wild for human feeding and other uses. These fruits are utilised either in their raw nature or after some form of processing. One of these wild fruits are Vaccinium species such as Vaccinium myrtoides (Blume) Miq., Vaccinium cylindraceum, Vaccinium padifolium, Vaccinium corymbosum, Vaccinium myrtillus and others from the plant family Ericaceae. The term wild infers non-cultivated plants found in plantation felids or the forest. The species Vaccinium myrtoides and the others are small trees (shrubs) that are well known in Southeast Asian countries such as Philippines, Indonesia and other neighbouring islands. The plants classified as wild growing shrubs. However, the locals have made it be fully utilized in some areas as the wood that are used in grafting utensils and cutleries, or as fuel and fruits. The small-sized berry-like fruits with an average diameter of about 4–5 mm turn black when ripe. They have a delicious flavour that makes it edible and used in the making of other delicacies such as tart and pies to add flavour and as preservatives as well. A few published researches were done on Vaccinium myrtoides showing that it is still used in folkloric medicine. Leaves and fruits extracts showed strong antioxidant activity when tested in-vitro using DPPH (2, 2-diphenyl-1-picrylhydrazyl) free radical scavenging activity as part of a preliminary phytochemical screening for V. myrtoides. The study revealed that the antioxidant activity is due to the presence of flavonoids and other phenolic compounds in the plant leaves and fruit extracts

Another look at category effects on colour perception and their left hemispheric lateralisation: no evidence from a colour identification task

The present study aimed to replicate category effects on colour perception and their lateralisation to the left cerebral hemisphere (LH). Previous evidence for lateralisation of colour category effects has been obtained with tasks where a differently coloured target was searched within a display and participants reported the lateral location of the target. However, a left/right spatial judgment may yield LH-laterality effects per se. Thus, we employed an identification task that does not require a spatial judgment and used the same colour set that previously revealed LH-lateralised category effects. The identification task was better performed with between-category colours than with within-category task both in terms of accuracy and latency, but such category effects were bilateral or RH-lateralised, and no evidence was found for LH-laterality effects. The accuracy scores, moreover, indicated that the category effects derived from low sensitivities for within-blue colours and did not reflect the effects of categorical structures on colour perception. Furthermore, the classic "category effects" were observed in participants\u27 response biases, instead of sensitivities. The present results argue against both the LH-lateralised category effects on colour perception and the existence of colour category effects per se