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

Neighborhoods of trees in circular orderings

In phylogenetics, a common strategy used to construct an evolutionary tree for a set of species X is to search in the space of all such trees for one that optimizes some given score function (such as the minimum evolution, parsimony or likelihood score). As this can be computationally intensive, it was recently proposed to restrict such searches to the set of all those trees that are compatible with some circular ordering of the set X. To inform the design of efficient algorithms to perform such searches, it is therefore of interest to find bounds for the number of trees compatible with a fixed ordering in the neighborhood of a tree that is determined by certain tree operations commonly used to search for trees: the nearest neighbor interchange (nni), the subtree prune and regraft (spr) and the tree bisection and reconnection (tbr) operations. We show that the size of such a neighborhood of a binary tree associated with the nni operation is independent of the tree’s topology, but that this is not the case for the spr and tbr operations. We also give tight upper and lower bounds for the size of the neighborhood of a binary tree for the spr and tbr operations and characterize those trees for which these bounds are attained

Screening of the antioxidant, antimicrobial and DNA damage protection potentials of the aqueous extract of Asplenium ceterach DC.

In this study, in vitro antioxidant, antimicrobial and DNA damage protection potentials of the aqueous extract of Asplenium ceterach was firstly evaluated in addition to its total phenolic and flavonoid contents. Antioxidant activity was determined by five complementary test systems named β- carotene/linoleic acid, 1,1-diphenyl-2-picrylhydrazyl (DPPH) free radical scavenging, reducing power, chelating effect and phosphomolibdenum methods. Except for chelating effect assay, the extract exhibited remarkable activity potential. Antimicrobial activity was determined by agar-well diffusion and minimum inhibitory concentration tests. In this case, Shigella dysenteriae and Staphylococcus aureus were found to be the most sensitive microorganisms. According to the electrophoretic pattern of pBR322 plasmid DNA after treatment with UV and H2O2, supercoiled DNA was successfully protected in the presence of 20 mg/ml or above concentrations of aqueous extract.Key words: Antioxidant activity, antimicrobial activity, DNA damage protection, Asplenium ceterach

Search for Prompt Neutrino Emission from Gamma-Ray Bursts with IceCube

We present constraints derived from a search of four years of IceCube data for a prompt neutrino flux from gamma-ray bursts (GRBs). A single low-significance neutrino, compatible with the atmospheric neutrino background, was found in coincidence with one of the 506 observed bursts. Although GRBs have been proposed as candidate sources for ultra-high energy cosmic rays, our limits on the neutrino flux disfavor much of the parameter space for the latest models. We also find that no more than $\sim1\%$ of the recently observed astrophysical neutrino flux consists of prompt emission from GRBs that are potentially observable by existing satellites.Comment: 15 pages, 3 figure

Atmospheric and Astrophysical Neutrinos above 1 TeV Interacting in IceCube

The IceCube Neutrino Observatory was designed primarily to search for high-energy (TeV--PeV) neutrinos produced in distant astrophysical objects. A search for $\gtrsim 100$~TeV neutrinos interacting inside the instrumented volume has recently provided evidence for an isotropic flux of such neutrinos. At lower energies, IceCube collects large numbers of neutrinos from the weak decays of mesons in cosmic-ray air showers. Here we present the results of a search for neutrino interactions inside IceCube's instrumented volume between 1~TeV and 1~PeV in 641 days of data taken from 2010--2012, lowering the energy threshold for neutrinos from the southern sky below 10 TeV for the first time, far below the threshold of the previous high-energy analysis. Astrophysical neutrinos remain the dominant component in the southern sky down to 10 TeV. From these data we derive new constraints on the diffuse astrophysical neutrino spectrum, $\Phi_{\nu} = 2.06^{+0.4}_{-0.3} \times 10^{-18} \left({E_{\nu}}/{10^5 \,\, \rm{GeV}} \right)^{-2.46 \pm 0.12} {\rm {GeV^{-1} \, cm^{-2} \, sr^{-1} \, s^{-1}} }$, as well as the strongest upper limit yet on the flux of neutrinos from charmed-meson decay in the atmosphere, 1.52 times the benchmark theoretical prediction used in previous IceCube results at 90\% confidence.Comment: 18 pages, 12 figure

Anti-plasmodial polyvalent interactions in Artemisia annua L. aqueous extract – possible synergistic and resistance mechanisms

Artemisia annua hot water infusion (tea) has been used in in vitro experiments against P. falciparum malaria parasites to test potency relative to equivalent pure artemisinin. High performance liquid chromatography (HPLC) and mass spectrometric analyses were employed to determine the metabolite profile of tea including the concentrations of artemisinin (47.5±0.8 mg L-1), dihydroartemisinic acid (70.0±0.3 mg L-1), arteannuin B (1.3±0.0 mg L-1), isovitexin (105.0±7.2 mg L-1) and a range of polyphenolic acids. The tea extract, purified compounds from the extract, and the combination of artemisinin with the purified compounds were tested against chloroquine sensitive and chloroquine resistant strains of P. falciparum using the DNA-intercalative SYBR Green I assay. The results of these in vitro tests and of isobologram analyses of combination effects showed mild to strong antagonistic interactions between artemisinin and the compounds (9-epi-artemisinin and artemisitene) extracted from A. annua with significant (IC50 <1 μM) anti-plasmodial activities for the combination range evaluated. Mono-caffeoylquinic acids, tri-caffeoylquinic acid, artemisinic acid and arteannuin B showed additive interaction while rosmarinic acid showed synergistic interaction with artemisinin in the chloroquine sensitive strain at a combination ratio of 1:3 (artemisinin to purified compound). In the chloroquine resistant parasite, using the same ratio, these compounds strongly antagonised artemisinin anti-plasmodial activity with the exception of arteannuin B, which was synergistic. This result would suggest a mechanism targeting parasite resistance defenses for arteannuin B’s potentiation of artemisinin

Observation of High-Energy Astrophysical Neutrinos in Three Years of IceCube Data

A search for high-energy neutrinos interacting within the IceCube detector between 2010 and 2012 provided the first evidence for a high-energy neutrino flux of extraterrestrial origin. Results from an analysis using the same methods with a third year (2012-2013) of data from the complete IceCube detector are consistent with the previously reported astrophysical flux in the 100 TeV - PeV range at the level of $10^{-8}\, \mathrm{GeV}\, \mathrm{cm}^{-2}\, \mathrm{s}^{-1}\, \mathrm{sr}^{-1}$ per flavor and reject a purely atmospheric explanation for the combined 3-year data at $5.7 \sigma$. The data are consistent with expectations for equal fluxes of all three neutrino flavors and with isotropic arrival directions, suggesting either numerous or spatially extended sources. The three-year dataset, with a livetime of 988 days, contains a total of 37 neutrino candidate events with deposited energies ranging from 30 to 2000 TeV. The 2000 TeV event is the highest-energy neutrino interaction ever observed.Comment: 8 pages, 5 figures. Accepted by PRL. The event catalog, event displays, and other data tables are included after the final page of the article. Changed from the initial submission to reflect referee comments, expanding the section on atmospheric backgrounds, and fixes offsets of up to 0.9 seconds in reported event times. Address correspondence to: J. Feintzeig, C. Kopper, N. Whitehor

Limits on the high-energy gamma and neutrino fluxes from the SGR 1806-20 giant flare of December 27th, 2004 with the AMANDA-II detector

On December 27th 2004, a giant gamma flare from the Soft Gamma-ray Repeater 1806-20 saturated many satellite gamma-ray detectors. This event was by more than two orders of magnitude the brightest cosmic transient ever observed. If the gamma emission extends up to TeV energies with a hard power law energy spectrum, photo-produced muons could be observed in surface and underground arrays. Moreover, high-energy neutrinos could have been produced during the SGR giant flare if there were substantial baryonic outflow from the magnetar. These high-energy neutrinos would have also produced muons in an underground array. AMANDA-II was used to search for downgoing muons indicative of high-energy gammas and/or neutrinos. The data revealed no significant signal. The upper limit on the gamma flux at 90% CL is dN/dE < 0.05 (0.5) TeV^-1 m^-2 s^-1 for gamma=-1.47 (-2). Similarly, we set limits on the normalization constant of the high-energy neutrino emission of 0.4 (6.1) TeV^-1 m^-2 s^-1 for gamma=-1.47 (-2).Comment: 14 pages, 3 figure

High transverse momentum eta meson production in p+p, d+Au and Au+Au collisions at sqrt(s_NN) = 200 GeV

Inclusive transverse momentum spectra of eta mesons in the range p_T~2-12 GeV/c have been measured at mid-rapidity (|\eta| < 0,35) by the PHENIX experiment at RHIC in p+p, d+Au and Au+Au collisions at sqrt(s_NN) = 200 GeV. The eta mesons are reconstructed through their eta--> \gamma\gamma channel for the three colliding systems as well as through the eta-->pi^0 pi+ pi- decay mode in p+p and d+Au collisions. The nuclear modification factor in d+Au collisions, R_dAu(p_T~1.0-1.1, suggests at most only modest p_T broadening ("Cronin enhancement"). In central Au+Au reactions, the eta yields are significantly suppressed, with R_AuAu(pT)~0.2. The ratio of eta to pi^0 yields is approximately constant as a function of p_T for the three colliding systems in agreement with the high-p_T world average of R_eta/pi^0 \approx 0.5 in hadron-hadron, hadron-nucleus, and nucleus-nucleus collisions for a wide range of center-of-mass energies [sqrt(s_NN)~3-1800 GeV] as well as, for high scaled momentum x_p, in e+e- annihilations at sqrt(s)=91.2 GeV. These results are consistent with a scenario where high-p_T eta production in nuclear collisions at RHIC is largely unaffected by initial-state effects, but where light-quark mesons (pi^0;eta) are equally suppressed due to final-state interactions of the parent partons in the dense medium produced in Au+Au reactions.Comment: 391 authors, NN pages text, RevTeX4, figures, tables. Submitted to Physical Review C. Plain text data tables for the points plotted in figures for this and previous PHENIX publications are (or will be) publicly available at http://www.phenix.bnl.gov/papers.htm

Search for a diffuse flux of astrophysical muon neutrinos with the IceCube 59-string configuration

A search for high-energy neutrinos was performed using data collected by the IceCube Neutrino Observatory from May 2009 to May 2010, when the array was running in its 59-string configuration. The data sample was optimized to contain muon neutrino induced events with a background contamination of atmospheric muons of less than 1%. These data, which are dominated by atmospheric neutrinos, are analyzed with a global likelihood fit to search for possible contributions of prompt atmospheric and astrophysical neutrinos, neither of which have yet been identified. Such signals are expected to follow a harder energy spectrum than conventional atmospheric neutrinos. In addition, the zenith angle distribution differs for astrophysical and atmospheric signals. A global fit of the reconstructed energies and directions of observed events is performed, including possible neutrino flux contributions for an astrophysical signal and atmospheric backgrounds as well as systematic uncertainties of the experiment and theoretical predictions. The best fit yields an astrophysical signal flux for nu(mu) + (nu) over bar (mu) of E-2. Phi(E) = 0.25 x 10(-8) GeV cm(-2) s(-1) sr(-1), and a zero prompt component. Although the sensitivity of this analysis for astrophysical neutrinos surpasses the Waxman and Bahcall upper bound, the experimental limit at 90% confidence level is a factor of 1.5 above at a flux of E-2 . Phi(E) = 1.44 x 10(-8) GeV cm(-2) s(-1) sr(-1)