1,129 research outputs found
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome)
No full textDeletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is
characterized by congenital heart defect (CHD), palatal anomalies, facial
dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning
disabilities. CHD is present in 75% of patients with Del22. The most frequently seen
cardiac malformations are “conotruncal” defects, including tetralogy of Fallot (TF),
pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA),
interrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of the
specific “cardiac phenotype” in patients with Del22 shows that a particular cardiac
anatomy can be identied in these subjects. In addition to CHD, various organ
systems can be involved, so that a multidisciplinary approach is needed in the
evaluation of patients with Del22.peer-reviewe
Interactions between Bt-expressing tomato and non-target insects: the aphid Macrosiphum euphorbiae and its natural enemies
No full textBacillus thuringiensis Berliner toxins are highly specific in terms of insect pest targeted. For example, Cry3Bb is active against Coleoptera. As a consequence, in the framework of using genetically modified plants expressing different Bt toxins in sustainable agriculture, there is a growing interest about the impact of these crops on the environment and on non-target organisms. The effects of genetically modified Bt-tomato plants expressing the toxin Cry3Bb on the aphid Macrosiphum euphorbiae (Thomas) and its natural enemies, the generalist predator Macrolophus caliginosus Wagner and the endoparasitoid wasp Aphidius ervi Haliday, were assessed under laboratory conditions. No significant differences between performance of M. euphorbiae were observed on genetically modified tomato plants (line UC82Bt) with respect to their near-isogenic control line (line UC82). Immunoassays did not detect Cry3Bb protein in M. euphorbiae developing on Bt-expressing tomato plants. Similarly, no significant differences were found on the longevity and prey consumption of M. caliginosus when fed aphids reared on UC82Bt or on UC82. Moreover, the genetic modification did not affect the attractiveness of uninfested tomato plants toward A. ervi. It is therefore concluded that Cry3Bb-expressing tomato plants did not show any acute adverse effects on the biological parameters of the non-target herbivore M. euphorbiae or its natural enemies, M. caliginosus and A. ervi, under laboratory conditions. © 2012 Copyright Taylor and Francis Group, LLC
Difese dirette ed indirette contro afidi: caratterizzazione biologica, chimica e genetica in varietà commerciali di pomodoro
No full textLe indagini saranno condotte sul sistema tritrofico pomodoro-Macrosiphum euphorbiae-Aphidius ervi. CARATTERIZZAZIONE DEI LIVELLI DI DIFESA DIRETTA ED INDIRETTA DA M. EUPHORBIAE IN VARIETA' COMMERCIALI DI POMODORO SCOPO: Individuazione della risposta costitutiva ed indotta delle piante di pomodoro all'attacco da parte dell'afide CARATTERIZZAZIONE DELLE SOSTANZE VOLATILI RESPONSABILI DELLA DIFESA INDIRETTA DA M.EUPHORBIAE E RICERCA DI CORRELAZIONE CON I LIVELLI DI ATTRATTIVITÀ REGISTRATI SCOPO: Verificare la presenza di variabilità (qualitativa, quantitativa) nella emissione di sostanze volatili responsabili dell'attrattività verso A. ervi, a supporto delle eventuali differenze riscontrate nei biosaggi eseguiti in galleria del vento. EFFETTO DI APPLICAZIONI ESOGENE DI SEMIOCHIMICI SULLA DIFESA DIRETTA ED INDIRETTA DA MACROSIPHUM EUPHORBIAE SCOPO: Verificare se il/i composto/i volatile/i responsabili dell'attrattività verso A. ervi possano essere impiegati come biomolecole per indurre un aumento delle difese della pianta PROFILO DI ESPRESSIONE DEI GENI CANDIDATI ATTIVATI DA M. EUPHORBIAE SCOPO: Identificazione di geni coinvolti nella risposta della pianta all'infestazione da M. euphorbiae. In questo obiettivo analizzeremo geni coinvolti nella biosintesi e turnover dei terpenoidi
Modulation of the antioxidant activity of HO scavengers by albumin binding: a 19F-NMR study
No full textThe interaction between different HOradical dot radical scavengers in a three-component antioxidant system has been investigated by means of 19F-NMR spectroscopy. This system is composed of bovine serum albumin (BSA), trolox, and N-(4-hydroxyphenyl)-trifluoroacetamide (CF3PAF). The antioxidant capacity of BSA and trolox has been assessed by measuring the amount of trifluoroacetamide (TFAM) arising from the radical mediated decomposition of CF3PAF. When assayed separately, both trolox and BSA behaved as antioxidants, as they were effective to protect CF3PAF from HOradical dot radical-mediated decomposition. By contrast, trolox enhanced the production of TFAM in the presence of BSA, thus behaving as a pro-oxidant. Urate, carnosine, glucose, and propylgallate showed antioxidant properties both with or without BSA. CF3PAF and trolox were found to bind to BSA with association constants in the order of 5 × 103 M−1 and to compete for the same binding sites. These results have been discussed in terms of BSA-catalysed cross-reactions between trolox-derived secondary radicals and CF3PAF.The interaction between different HO. radical scavengers in a three-component antioxidant system has been investigated by means of 19F-NMR spectroscopy. This system is composed of bovine serum albumin (BSA), trolox, and N-(4-hydroxyphenyl)-trifluoroacetamide (CF3PAF). The antioxidant capacity of BSA and trolox has been assessed by measuring the amount of trifluoroacetamide (TFAM) arising from the radical mediated decomposition of CF3PAF. When assayed separately, both trolox and BSA behaved as antioxidants, as they were effective to protect CF3PAF from HO. radical-mediated decomposition. By contrast, trolox enhanced the production of TFAM in the presence of BSA, thus behaving as a pro-oxidant. Urate, carnosine, glucose, and propylgallate showed antioxidant properties both with or without BSA. CF3PAF and trolox were found to bind to BSA with association constants in the order of 5×103M-1 and to compete for the same binding sites. These results have been discussed in terms of BSA-catalysed cross-reactions between trolox-derived secondary radicals and CF3PAF. © 2003 Elsevier Inc. All rights reserved
Metal complexes as allosteric effectors of human hemoglobin: An NMR study of the interaction of the gadolinium(III) bis(m-boroxyphenylamide)diethylenetriaminepentaacetic acid complex with human oxygenated and deoxygenated hemoglobin
No full textThe boronic functionalities on the outer surface of the Gd(III) bis(m-boroxyphenylamide)DTPA complex (Gd(III)L) enable it to bind to fructosamine residues of oxygenated glycated human adult hemoglobin. The formation of the macromolecular adduct can be assessed by NMR spectroscopy via observation of the enhancement of the solvent water proton relaxation rate. Unexpectedly, a strong binding interaction was also observed for the oxygenated unglycated human adult hemoglobin, eventually displaying a much higher relaxation enhancement. From relaxation rate measurements it was found that two Gd(III)L complexes interact with one hemoglobin tetramer (K-D = 1.0 x 10(-5) M and 4.6 x 10(-4) M, respectively), whereas no interaction has been observed with monomeric hemoproteins. A markedly higher affinity of the Gd(III)L complex has been observed for oxygenated and aquo-met human adult hemoglobin derivatives with respect to the corresponding deoxy derivative. Upon binding, a net change in the quaternary structure of hemoglobin has been assessed by monitoring the changes in the high-resolution H-1-NMR spectrum of the protein as well as in the Soret absorption band. On the basis of these observations and the B-11 NMR results obtained with the diamagnetic La(III)L complex, we suggest that the interaction between the lanthanide complex and deoxygenated, oxygenated, and aquo-met derivatives of human adult hemoglobin takes place at the 2,3-diphosphoglycerate (DPG) binding site, through the formation of N-->B coordinative bonds at His(143 beta) and His(2 beta) residues of different beta-chains. The stronger binding to the oxygenated form is then responsible for a shift of the allosteric equilibrium toward the high-affinity R-state. Accordingly, Gd(III)L affinity for oxygenated human fetal hemoglobin (tacking His(143 beta)) is significantly lower than that observed for the unglycated human adult tetramer
Experimental evidence for a second coordination sphere water molecule in the hydration structure of YbDTPA - Insights for a re-assessment of the relaxivity data of GdDTPA
No full textThe low temperature (-100 °C) X-ray structure of the complex K2[Yb(DTPA)(H2O)] has been determined. The metal ion is at the center of a tricapped trigonal prism and is nine-coordinate, binding to the three nitrogens and five oxygens of the ligand and one water molecule. From the structure obtained, three well-defined hydration shells can be observed consisting of: i) one coordinated water molecule; ii) several water molecules in the outer coordination sphere of the Yb(III) ion and iii) one water molecule surprisingly close to the metal center and hydrogen-bonded to proximate carboxylate groups. A variable-field and temperature NMRD study of the corresponding Gd complex has been performed and the data interpreted by taking into account the presence of second-sphere water molecule(s). The results of the analysis are in excellent agreement with the X-ray structural data
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations
No full textThe concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). Although differential diagnosis between these two syndromes could be difficult, particularly in the first age of life, we underline the relevance in discriminating these two disorders in terms of affected signaling pathway to allow an effective targeted pharmacological treatment
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