Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.

Cystic fibrosis (CF) is a life-threatening and common genetic disorder. Cystic fibrosis newborn screening (CF NBS) has been implemented in many countries over the last 30 years, becoming a widely accepted public health strategy in economically developed countries. False-negative (FN) cases can occur after CF NBS, with the number depending on the method. We evaluated the delayed diagnosis of CF, identifying the patients who had false-negative CF NBS results over 26 years (1992-2018) in Tuscany, Italy. The introduction of DNA analysis to the newborn screening protocol improved the sensitivity of the test and reduced the FNs. Our experience showed that, overall, at least 8.7% of cases of CF received FNs (18 cases) and were diagnosed later, with an average age of 6.6 years (range: 4 months to 22 years). Respiratory symptoms and salt-loss syndrome (metabolic hypochloremic alkalosis) are suggestive symptoms of CF and were commons events in FN patients. In Tuscany, a region with a high CFTR allelic heterogeneity, the salt-loss syndrome was a common event in FNs. Therefore, we provided evidence to support the claim that the FN patients had CFTR mutations rarer compared with the true-positive cases. We underline the importance of vigilance toward clinical manifestations suggestive of CF on the part of the primary care providers and hospital physicians in a region with an efficient newborn screening program

Natural genetic variation in fluctuating asymmetry of wing shape in Drosophila melanogaster

Fluctuating asymmetry (FA), defined as random deviation from perfect symmetry, has been used to assay the inability of individuals to buffer their developmental processes from environmental perturbations (i.e., developmental instability). In this study, we aimed to characterize the natural genetic variation in FA of wing shape in Drosophila melanogaster, collected from across the Japanese archipelago. We quantified wing shapes at whole wing and partial wing component levels and evaluated their mean and FA. We also estimated the heritability of the mean and FA of these traits. We found significant natural genetic variation in all the mean wing traits and in FA of one of the partial wing components. Heritability estimates for mean wing shapes were significant in two and four out of five wing traits in males and females, respectively. On the contrary, heritability estimates for FA were low and not significant. This is a novel study of natural genetic variation in FA of wing shape. Our findings suggest that partial wing components behave as distinct units of selection for FA, and local adaptation of the mechanisms to stabilize developmental processes occur in nature

A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

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XAS investigation of tantalum and niobium in nanostructured TiO2 anatase

Sol–gel routes were used to prepare Ta 10 at% and Nb 5 at% and 10 at% doped titania nanosized powders. When fired between 410°C and 850°C the doped titania powders are in the anatase phase; further heating up to 1050°C is required to obtain the rutile phase. The presence of dopant atoms delays the rate of transformation as compared with pure titania powders. Doping also affects the rate of grain growth and increases the conductance response to gas. To better understand the role played by dopant atoms in inhibiting both phase transformation to rutile and grain growth, X-ray Absorption Spectroscopy measurements were performed at the LIII–LI absorption edges of Ta and Nb K absorption edge. Analysis was restricted to the anatase phase because the transformation to rutile phase, obtained by firing at 1050°C, is accompanied by the formation of undesired Ta and Nb oxides (Ta2O5 and Nb2TiO7, respectively). Extended X-ray Absorption Fine Structure and X-ray Absorption Near-Edge Spectroscopy analysis results indicate that in nanostructured anatase both tantalum and niobium atoms substitute Ti cations with +5 valence state

XAS investigation of tantalum and niobium in nanostructured TiO2 anatase

Sol-gel routes were used to prepare Ta 10 at% and Nb 5 at% and 10 at% doped titania nanosized powders. When fired between 410degreesC and 850degreesC the doped titania powders are in the anatase phase; further heating up to 1050degreesC is required to obtain the rutile phase. The presence of dopant atoms delays the rate of transformation as compared with pure titania powders. Doping also affects the rate of grain growth and increases the conductance response to gas. To better understand the role played by dopant atoms in inhibiting both phase transformation to rutile and grain growth, X-ray Absorption Spectroscopy measurements were performed at the LIIIF-L-I absorption edges of Ta and Nb K absorption edge. Analysis was restricted to the anatase phase because the transformation to rutile phase, obtained by firing at 1050degreesC, is accompanied by the formation of undesired Ta and Nb oxides (Ta2O5 and Nb2TiO7, respectively). Extended X-ray Absorption Fine Structure and X-ray Absorption Near-Edge Spectroscopy analysis results indicate that in nanostructured anatase both tantalum and niobium atoms substitute Ti cations with + 5 valence state

XAS investigation of tantalum and niobium in nanostructured TiO2 anatase

Sol-gel routes were used to prepare Ta 10 at% and Nb 5 at% and 10 at% doped titania nanosized powders. When fired between 410degreesC and 850degreesC the doped titania powders are in the anatase phase; further heating up to 1050degreesC is required to obtain the rutile phase. The presence of dopant atoms delays the rate of transformation as compared with pure titania powders. Doping also affects the rate of grain growth and increases the conductance response to gas. To better understand the role played by dopant atoms in inhibiting both phase transformation to rutile and grain growth, X-ray Absorption Spectroscopy measurements were performed at the LIIIF-L-I absorption edges of Ta and Nb K absorption edge. Analysis was restricted to the anatase phase because the transformation to rutile phase, obtained by firing at 1050degreesC, is accompanied by the formation of undesired Ta and Nb oxides (Ta2O5 and Nb2TiO7, respectively). Extended X-ray Absorption Fine Structure and X-ray Absorption Near-Edge Spectroscopy analysis results indicate that in nanostructured anatase both tantalum and niobium atoms substitute Ti cations with + 5 valence state

Near-infrared photoluminescence in titania: Evidence for phonon-replica effect

The photoluminescence of rutile and anatase TiO2 has been investigated in the range of 360–890 nm at several temperatures. An unexpected intense near-infrared ~1.53 eV! photoluminescence band was recorded for both phases. At low temperatures, the resulting bands form a substructure of equally spaced peaks irrespective of the phase. The spectra were interpreted in the framework of the single-configuration-coordinate model as the phonon-replica effect, originating from ionization of oxygen vacancies

Synthesis, Characterization and Transesterification Activity of Cross-Linked Styrenic Resins Containing the Triphenyltincarboxylate Moiety Spaced by a Dimethylene from the Aromatic Ring

An organotin monomer, triphenyltin 3-(4-styryl)- propionate (TPTSPr) has been synthesized and copolymerized in different ratios with styrene and 1,4-divinylbenzene in order to obtain resins with catalytic activity in transesterification reactions. The resins and a low molecular weight model compound, triphenyltin 3-(4-ethylphenyl)- propionate (TPT-C2-Pr), mimicking the catalytic co-unit, have been characterized by FT-IR and NMR spectroscopy, with particular attention paid to the coordination at tin and how it correlates to the catalytic activity. The activity of both the resins and of the model compound have been tested in a transesterification model reaction between ethyl acetate and primary alcohol. All the resins show catalytic activity that decreases with increasing content of the active co-unit in the resins, owing to the interaction of the active sites among themselves