University of Florence

About: University of Florence is a education organization based out in Florence, Toscana, Italy. It is known for research contribution in the topics: Population & Carbonic anhydrase. The organization has 27292 authors who have published 79599 publications receiving 2341684 citations. The organization is also known as: Università degli studi di Firenze & Universita degli studi di Firenze.

Early-onset parkinsonism associated with PINK1 mutations Frequency, genotypes, and phenotypes

Abstract: Objective: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset ( Methods: The authors studied 134 patients (116 sporadic and 18 familial; 77% Italian) and 90 Italian controls. The whole PINK1 coding region was sequenced from genomic DNA; cDNA was analyzed in selected cases. Results: Homozygous pathogenic mutations were identified in 4 of 90 Italian sporadic cases, including the novel Gln456Stop mutation; single heterozygous truncating or missense mutations were found in another 4 Italian sporadic cases, including two novel mutations, Pro196Leu and Gln456Stop. Pathogenic mutations were not identified in the familial cases. Novel (Gln115Leu) and known polymorphisms were identified with similar frequency in cases and controls. In cases carrying single heterozygous mutation, cDNA analysis detected no additional mutations, and revealed a major pathogenic effect at mRNA level for the mutant C1366T/Gln456Stop allele. All patients with homozygous mutations had very early disease onset, slow progression, and excellent response to l-dopa, including, in some, symmetric onset, dystonia at onset, and sleep benefit, resembling parkin-related disease. Phenotype in patients with single heterozygous mutation was similar, but onset was later. Conclusions: PINK1 homozygous mutations are a relevant cause of disease among Italian sporadic patients with early-onset parkinsonism. The role of mutations found in single heterozygous state is difficult to interpret. Our study suggests that, at least in some patients, these mutations are disease causing, in combination with additional, still unknown factors.

CHIANTI—An Atomic Database for Emission Lines. VI. Proton Rates and Other Improvements

Abstract: The CHIANTI atomic database contains atomic energy levels, wavelengths, radiative transition probabilities, and electron excitation data for a large number of ions of astrophysical interest. Version 4 has been released, and proton excitation data are now included, principally for ground configuration levels that are close in energy. The fitting procedure for excitation data, both electrons and protons, has been extended to allow nine-point spline fits in addition to the previous five-point spline fits. This allows higher quality fits to data from close-coupling calculations where resonances can lead to significant structure in the Maxwellian-averaged collision strengths. The effects of photoexcitation and stimulated emission by a blackbody radiation field in a spherical geometry on the level balance equations of the CHIANTI ions can now be studied following modifications to the CHIANTI software. With the addition of H I, He I, and N I, the first neutral species have been added to CHIANTI. Many updates to existing ion data sets are described, while several new ions have been added to the database, including Ar IV, Fe VI, and Ni XXI. The two-photon continuum is now included in the spectral synthesis routines, and a new code for calculating the relativistic free-free continuum has been added. The treatment of the free-bound continuum has also been updated.

Measurement of the Bs0→μ+μ- branching fraction and search for B0→μ+μ- with the CMS experiment

Abstract: Results are presented from a search for the rare decays B0s→μ+μ− and B0→μ+μ− in pp collisions at s√=7 and 8 TeV, with data samples corresponding to integrated luminosities of 5 and 20 fb−1, respectively, collected by the CMS experiment at the LHC. An unbinned maximum-likelihood fit to the dimuon invariant mass distribution gives a branching fraction B(B0s→μ+μ−)=(3.0+1.0−0.9)×10−9, where the uncertainty includes both statistical and systematic contributions. An excess of B0s→μ+μ− events with respect to background is observed with a significance of 4.3 standard deviations. For the decay B0→μ+μ− an upper limit of B(B0→μ+μ−)<1.1×10−9 at the 95% confidence level is determined. Both results are in agreement with the expectations from the standard model.

Nucleic acid and peptide aptamers: fundamentals and bioanalytical aspects.

Abstract: In recent years new nucleic acid and protein-based combinatorial molecules have attracted the attention of researchers working in various areas of science, ranging from medicine to analytical chemistry. These molecules, called aptamers, have been proposed as alternatives to antibodies in many different applications. The aim of this Review is to illustrate the peculiarities of these combinatorial molecules which have initially been explored for their importance in molecular medicine, but have enormous potential in other biotechnological fields historically dominated by antibodies, such as bioassays. A description of these molecules is given, and the methods for their selection and production are also summarized. Moreover, critical aspects related to these molecules are discussed.