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

Search for New Physics with Jets and Missing Transverse Momentum in pp collisions at sqrt(s) = 7 TeV

A search for new physics is presented based on an event signature of at least three jets accompanied by large missing transverse momentum, using a data sample corresponding to an integrated luminosity of 36 inverse picobarns collected in proton--proton collisions at sqrt(s)=7 TeV with the CMS detector at the LHC. No excess of events is observed above the expected standard model backgrounds, which are all estimated from the data. Exclusion limits are presented for the constrained minimal supersymmetric extension of the standard model. Cross section limits are also presented using simplified models with new particles decaying to an undetected particle and one or two jets

Hydra Mesoglea Proteome Identifies Thrombospondin as a Conserved Component Active in Head Organizer Restriction

Thrombospondins (TSPs) are multidomain glycoproteins with complex matricellular functions in tissue homeostasis and remodeling. We describe a novel role of TSP as a Wnt signaling target in the basal eumetazoan Hydra. Proteome analysis identified Hydra magnipapillata TSP (HmTSP) as a major component of the cnidarian mesoglea. In general, the domain organization of cnidarian TSPs is related to the pentameric TSPs of bilaterians, and in phylogenetic analyses cnidarian TSPs formed a separate clade of high sequence diversity. HmTSP expression in polyps was restricted to the hypostomal tip and tentacle bases that harbor Wnt-regulated organizer tissues. In the hypostome, HmTSP- and Wnt3-expressing cells were identical or in close vicinity to each other, and regions of ectopic tentacle formation induced by pharmacological β-Catenin activation (Alsterpaullone) corresponded to foci of HmTSP expression. Chromatin immunoprecipitation (ChIP) confirmed binding of Hydra TCF to conserved elements in the HmTSP promotor region. Accordingly, β-Catenin knockdown by siRNAs reduced normal HmTSP expression at the head organizer. In contrast, knockdown of HmTSP expression led to increased numbers of ectopic organizers in Alsterpaullone-treated animals, indicating a negative regulatory function. Our data suggest an unexpected role for HmTSP as a feedback inhibitor of Wnt signaling during Hydra body axis patterning and maintenance

Perspectives of the Apiaceae Hepatoprotective Effects - A Review

The liver has the crucial role in the regulation of various physiological processes and in the excretion of endogenous waste metabolites and xenobiotics. Liver structure impairment can be caused by various factors including microorganisms, autoimmune diseases, chemicals, alcohol and drugs. The plant kingdom is full of liver protective chemicals such as phenols, coumarins, lignans, essential oils, monoterpenes, carotenoids, glycosides, flavonoids, organic acids, lipids, alkaloids and xanthenes. Apiaceae plants are usually used as a vegetable or as a spice, but their other functional properties are also very important. This review highlights the significance of caraway, dill, cumin, aniseed, fennel, coriander, celery, lovage, angelica, parsley and carrot, which are popular vegetables and spices, but possess hepatoprotective potential. These plants can be used for medicinal applications to patients who suffer from liver damage

Effect of Carnitine and herbal mixture extract on obesity induced by high fat diet in rats

<p>Abstract</p> <p>Background</p> <p>Obesity-associated type 2 diabetes is rapidly increasing throughout the world. It is generally recognized that natural products with a long history of safety can modulate obesity.</p> <p>Aim</p> <p>To investigate the development of obesity in response to a high fat diet (HFD) and to estimate the effect of L-carnitine and an Egyptian Herbal mixture formulation (HMF) (consisting of T. chebula, Senae, rhubarb, black cumin, aniseed, fennel and licorice) on bodyweight, food intake, lipid profiles, renal, hepatic, cardiac function markers, lipid Peroxidation, and the glucose and insulin levels in blood and liver tissue in rats.</p> <p>Method</p> <p>White male albino rats weighing 80-90 gm, 60 days old. 10 rats were fed a normal basal diet (Cr), 30 rats fed a high-fat diet (HFD) for 14 weeks during the entire study. Rats of the HFD group were equally divided into 3 subgroups each one include 10 rats. The first group received HFD with no supplement (HFD), the 2^ndgroup HFD+L-carnitine and the third group received HFD+HMF. Carnitine and HMF were administered at 10^thweek (start time for treatments) for 4 weeks.</p> <p>Body weight, lipid profile & renal function (urea, uric acid creatinine) ALT & AST activities, cardiac markers, (LDH, C.K-NAC and MB) the oxidative stress marker reduced glutathione (GSH), and Malondialdehyde (MDA) catalase activity, in addition to glucose, insulin, and insulin resistance in serum & tissues were analyzed.</p> <p>Results</p> <p>Data showed that feeding HFD diet significantly increased final body weight, triglycerides (TG), total cholesterol, & LDL concentration compared with controls, while significantly decreasing HDL; meanwhile treatment with L-carnitine, or HMF significantly normalized the lipid profile.</p> <p>Serum ALT, urea, uric acid, creatinine, LDH, CK-NAC, CK-MB were significantly higher in the high fat group compared with normal controls; and administration of L-carnitine or herbal extract significantly lessened the effect of the HFD. Hyperglycemia, hyperinsulinemia, and high insulin resistance (IR) significantly increased in HFD in comparison with the control group. The treatment with L-carnitine or HMF improved the condition. HFD elevated hepatic MDA and lipid peroxidation associated with reduction in hepatic GSH and catalase activity; whereas administration of L-carnitine or herbal extract significantly ameliorated these hepatic alterations.</p> <p>Conclusion</p> <p>HFD induced obesity associated with a disturbed lipid profile, defective antioxidant stability, and high values of IR parameters; this may have implications for the progress of obesity related problems. Treatment with L-carnitine, or HMF extract improved obesity and its associated metabolic problems in different degrees. Also HMF has antioxidant, hypolipidaemic insulin sensitizing effects. Moreover HMF might be a safe combination on the organs whose functions were examined, as a way to surmount the obesity state; and it has a distinct anti-obesity effect.</p

Carrageenan-based hydrogels for the controlled delivery of PDGF-BB in bone tissue engineering applications

One of the major drawbacks found in most bone tissue engineering approaches developed so far consists in the lack of strategies to promote vascularisation. Some studies have addressed different issues that may enhance vascularisation in tissue engineered constructs, most of them involving the use of growth factors (GFs) that are involved in the restitution of the vascularity in a damaged zone. The use of sustained delivery systems might also play an important role in the re-establishment of angiogenesis. In this study, !-carrageenan, a naturally occurring polymer, was used to develop hydrogel beads with the ability to incorporate GFs with the purpose of establishing an effective angiogenesis mechanism. Some processing parameters were studied and their influence on the final bead properties was evaluated. Platelet derived growth factor (PDGF-BB) was selected as the angiogenic factor to incorporate in the developed beads, and the results demonstrate the achievement of an efficient encapsulation and controlled release profile matching those usually required for the development of a fully functional vascular network. In general, the obtained results demonstrate the potential of these systems for bone tissue engineering applications.This work was supported by the European NoE EXPERTISSUES (NMP3-CT-2004-500283), the European STREP HIPPOCRATES (NMP3-CT-2003-505758), and by the Portuguese Foundation for Science and Technology (FCT) through the project PTDC/FIS/68517/2006 and through the V. Espirito Santo's Ph.D. grant (SFRH/BD/39486/2007)

The Evolution of Extracellular Matrix

We present a perspective on the molecular evolution of the extracellular matrix (ECM) in metazoa that draws on research publications and data from sequenced genomes and expressed sequence tag libraries. ECM components do not function in isolation, and the biological ECM system or “adhesome” also depends on posttranslational processing enzymes, cell surface receptors, and extracellular proteases. We focus principally on the adhesome of internal tissues and discuss its origins at the dawn of the metazoa and the expansion of complexity that occurred in the chordate lineage. The analyses demonstrate very high conservation of a core adhesome that apparently evolved in a major wave of innovation in conjunction with the origin of metazoa. Integrin, CD36, and certain domains predate the metazoa, and some ECM-related proteins are identified in choanoflagellates as predicted sequences. Modern deuterostomes and vertebrates have many novelties and elaborations of ECM as a result of domain shuffling, domain innovations and gene family expansions. Knowledge of the evolution of metazoan ECM is important for understanding how it is built as a system, its roles in normal tissues and disease processes, and has relevance for tissue engineering, the development of artificial organs, and the goals of synthetic biology

Search for three-jet resonances in pp Collisions at √s=7 TeV

This article is published Open Access at sciencedirect.com. It is distributed under the terms of the Creative Commons Attribution License 3.0.-- et al.Results are reported from a search for the production of three-jet resonances in pp collisions at a center-of-mass energy √s=7  TeV. The study uses the data sample collected by the CMS experiment at the LHC in 2011, corresponding to an integrated luminosity of 5.0fb -1. Events with high jet multiplicity and a large scalar sum of jet transverse momenta are analyzed for the presence of resonances in the three-jet invariant mass spectrum. No evidence for a narrow resonance is found in the data, and limits are set on the cross section for gluino pair production in an R-parity-violating supersymmetry model, for gluino masses greater than 280 GeV. Assuming a branching fraction for gluino decay into three jets of 100%, gluino masses below 460 GeV are excluded at 95% confidence level. These results significantly extend the range of previous limits. © 2012 CERN.European Commission; Federal Ministry of Science, Research and Economy (Austria); ); Agency for Innovation by Science and Technology (Belgium); Conselho Nacional de Desenvolvimento Científico e Tecnológico (Brasil); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Brasil); Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro; Fundação de Amparo à Pesquisa do Estado de São Paulo; Ministry of Science and Technology of the People's Republic of China; National Natural Science Foundation of China; Colciencias (Colombia); Ministry of Science, Education and Sports of the Republic of Croatia; Research Promotion Foundation (Cyprus); Centre National de la Recherche Scientifique (France); Bundesministerium für Bildung und Forschung (Deutschland); Deutsche Forschungsgemeinschaft; General Secretariat of Research and Technology (Greece); Helsinki Institute of Physics; National Office for Research and Technology (Hungary); Institute for Research in Fundamental Sciences (Iran); Science Foundation Ireland; Istituto Nazionale di Fisica Nucleare (Italia); Compagnia di San Paolo (Italia); National Research Foundation of Korea; Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (México); Consejo Nacional de Ciencia y Tecnología (México); Secretaría de Educación Pública (México); Universidad Autónoma de San Luis Potosí; Ministry of Science and Innovation (New Zealand); Pakistan Atomic Energy Commission; National Science Center (Poland); Fundação para a Ciência e a Tecnologia (Portugal); Joint Institute for Nuclear Research (Russia); Russian Foundation for Basic Research; Ministry of Education, Science and Technological Development (Serbia); Ministerio de Ciencia e Innovación (España); Swiss National Science Foundation.Peer Reviewe

Nietzsches gelijk: Waarom wijsheid achteraf onbillijk is

A search is performed for a massive new vector-like quark T, with charge 2/3, that is pair produced together with its antiparticle in proton-proton collisions. The data were collected by the CMS experiment at the Large Hadron Collider in 2012 at sqrt(s) = 8 TeV and correspond to an integrated luminosity of 19.5 inverse femtobarns. The T quark is assumed to decay into three different final states, bW, tZ, and tH. The search is carried out using events with at least one isolated lepton. No deviations from standard model expectations are observed, and lower limits are set on the T quark mass at 95% confidence level. The lower limit lies between 687 and 782 GeV for all possible values of the branching fractions into the three different final states assuming strong production. These limits are the most stringent constraints to date on the existence of such a quark