CO2\mathrm{CO_2} exploding clusters dynamics probed by XUV fluorescence

Clusters excited by intense laser pulses are a unique source of warm dense matter, that has been the subject of intensive experimental studies. The majority of those investigations concerns atomic clusters, whereas the evolution of molecular clusters excited by intense laser pulses is less explored. In this work we trace the dynamics of $\mathrm{CO_2}$ clusters triggered by a few-cycle 1.45-$\mu$m driving pulse through the detection of XUV fluorescence induced by a delayed 800-nm ignition pulse. Striking differences among fluorescence dynamics from different ionic species are observed

Studying the universality of field induced tunnel ionization times via high-order harmonic spectroscopy

High-harmonics generation spectroscopy is a promising tool for resolving electron dynamics and structure in atomic and molecular systems. This scheme, commonly described by the strong field approximation, requires a deep insight into the basic mechanism that leads to the harmonics generation. Recently, we have demonstrated the ability to resolve the first stage of the process -- field induced tunnel ionization -- by adding a weak perturbation to the strong fundamental field. Here we generalize this approach and show that the assumptions behind the strong field approximation are valid over a wide range of tunnel ionization conditions. Performing a systematic study -- modifying the fundamental wavelength, intensity and atomic system -- we observed a good agreement with quantum path analysis over a range of Keldysh parameters. The generality of this scheme opens new perspectives in high harmonics spectroscopy, holding the potential of probing large, complex molecular systems.Comment: 11 pages, 5 figure

High-order harmonic spectroscopy for molecular imaging of polyatomic molecules

High-order harmonic generation is a powerful and sensitive tool for probing atomic and molecular structures, combining in the same measurement an unprecedented attosecond temporal resolution with a high spatial resolution, of the order of the angstrom. Imaging of the outermost molecular orbital by high-order harmonic generation has been limited for a long time to very simple molecules, like nitrogen. Recently we demonstrated a technique that overcame several of the issues that have prevented the extension of molecular orbital tomography to more complex species, showing that molecular imaging can be applied to a triatomic molecule like carbon dioxide. Here we report on the application of such technique to nitrous oxide (N2O) and acetylene (C2H2). This result represents a first step towards the imaging of fragile compounds, a category which includes most of the fundamental biological molecules

Ultrafast charge carrier dynamics in quantum confined 2D perovskite

We studied the charge carrier dynamics in 2D perovskite NBT2PbI4 by ultrafast optical pump-THz probe spectroscopy. We observed a few ps long relaxation dynamics that can be ascribed to the band to band carrier recombination, in the absence of any contribution from many-body and trap assisted processes. The transient conductivity spectra show that the polaron dynamics is strongly modulated by the presence of a rich exciton population. The polarization field resulting from the exciton formation acts as the source of a restoring force that localizes polarons. This is revealed by the presence of a negative imaginary conductivity. Our results show that the dynamics of excitons in 2D perovskites at room temperature can be detected by monitoring their effect on the conductivity of the photoinduced polaronic carrier

Estimação de parâmetros genéticos sob enfoque bayesiano para indicadores de produtividade na raça Nelore.

Objetivou-se com este trabalho estimar os componentes de variâncias, utilizando análise bayesiana multicaracterística, de um indicador de produtividade e de características produtivas e reprodutivas para fêmeas da raça Nelore. O arquivo estava constituído de 3.029 registros de animais, filhos de 357 touros e 3.029 vacas, nascidos no período de 1976 a 2001. Estimaram-se os parâmetros genéticos, sob enfoque Bayesiano, utilizando os programas REMUNF90 e GIBBS2F90, sob modelo animal tetra-característica que apresentava como aleatórios os efeitos genéticos aditivos diretos e os residuais e como fixos o efeitos do ano de nascimento e o efeito do grupo de contemporâneos. Observou-se que os valores pontuais para os coeficientes de herdabilidades apresentaram pequena variação em relação aos valores mínimos e máximos, seguindo a tendência das variâncias aditivas, sendo também evidenciadas graficamente. As magnitudes das estimativas de herdabilidade do efeito genético direto obtidas para o peso aos 365 e aos 550 dias de idade, para a idade ao primeiro parto e para o índice de produtividade total foram respectivamente: 0,48; 0,60; 0,37 e 0,24; sugerindo que parte considerável da variação existente entre os animais, para estas características, está sob influência de componente genético aditivo; deste modo, todas as características abordadas no presente trabalho, podem responder de forma satisfatória à seleção.Zootec 2010

Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis

12noUsher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineural hearing loss and, in some cases, vestibular dysfunction. The disorder is clinically and genetically heterogeneous and, to date, mutations in 11 genes have been described. This finding makes difficult to get a precise molecular diagnosis and offer patients accurate genetic counselling. To overcome this problem and to increase our knowledge of the molecular basis of Usher syndrome, we designed a targeted resequencing custom panel. In a first validation step a series of 16 Italian patients with known molecular diagnosis were analysed and 31 out of 32 alleles were detected (97% of accuracy). After this step, 31 patients without a molecular diagnosis were enrolled in the study. Three out of them with an uncertain Usher diagnosis were excluded. One causative allele was detected in 24 out 28 patients (86%) while the presence of both causative alleles characterized 19 patients out 28 (68%). Sixteen novel and 27 known alleles were found in the following genes: USH2A (50%), MYO7A (7%), CDH23 (11%), PCDH15 (7%) and USH1G (2%). Overall, on the 44 patients the protocol was able to characterize 74 alleles out of 88 (84%). These results suggest that our panel is an effective approach for the genetic diagnosis of Usher syndrome leading to: 1) an accurate molecular diagnosis, 2) better genetic counselling, 3) more precise molecular epidemiology data fundamental for future interventional plans.partially_openembargoed_20160106Lenarduzzi, S.; Vozzi, D; Morgan, A.; Rubinato, E.; D'Eustacchio, A.; Osland, T.M.; Rossi, C.; Graziano, C.; Castorina, P.; Ambrosetti, U.; Morgutti, M.; Girotto, G.Lenarduzzi, Stefania; Vozzi, Diego; Morgan, Anna; Rubinato, Elisa; D'Eustacchio, A.; Osland, TERESA MARIA; Rossi, C.; Graziano, C.; Castorina, P.; Ambrosetti, U.; Morgutti, Marcello; Girotto, Giorgi

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

Autism Spectrum Disorder (ASD) refers to a broad range of conditions characterized by difficulties in communication, social interaction and behavior, and may be accompanied by other medical or psychiatric conditions. Patients with ASD and comorbidities are often difficult to diagnose because of the tendency to consider the multiple symptoms as the presentation of a complicated syndromic form. This view influences variant filtering which might ignore causative variants for specific clinical features shown by the patient. Here we report on a male child diagnosed with ASD, showing cognitive and motor impairments, stereotypies, hyperactivity, sleep, and gastrointestinal disturbances. The analysis of whole exome sequencing (WES) data with bioinformatic tools for oligogenic diseases helped us to identify two major previously unreported pathogenetic variants: a maternally inherited missense variant (p.R4122H) in HUWE1, an ubiquitin protein ligase associated to X-linked intellectual disability and ASD; and a de novo stop variant (p.Q259X) in TPH2, encoding the tryptophan hydroxylase 2 enzyme involved in serotonin synthesis and associated with susceptibility to attention deficit-hyperactivity disorder (ADHD). TPH2, expressed in central and peripheral nervous tissues, modulates various physiological functions, including gut motility and sleep. To the best of our knowledge, this is the first case presenting with ASD, cognitive impairment, sleep, and gastrointestinal disturbances linked to both HUWE1 and TPH2 genes. Our findings could contribute to the existing knowledge on clinical and genetic diagnosis of patients with ASD presentation with comorbidities