Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 302
Filtrar
1.
Phys Rev Lett ; 127(20): 205001, 2021 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-34860067

RESUMO

Heß spectral line shapes are important for diagnosing temperature and density in many dense plasmas. This work presents Heß line shapes measured with high spectral resolution from solid-density plasmas with minimized gradients. The line shapes show hallmark features of Stark broadening, including quantifiable redshifts and double-peaked structure with a significant dip between the peaks; these features are compared to models through a Markov chain Monte Carlo framework. Line shape theory using the dipole approximation can fit the width and peak separation of measured line shapes, but it cannot resolve an ambiguity between electron density n_{e} and ion temperature T_{i}, since both parameters influence the strength of quasistatic ion microfields. Here a line shape model employing a full Coulomb interaction for the electron broadening computes self-consistent line widths and redshifts through the monopole term; redshifts have different dependence on plasma parameters and thus resolve the n_{e}-T_{i} ambiguity. The measured line shapes indicate densities that are 80-100% of solid, identifying a regime of highly ionized but well-tamped plasma. This analysis also provides the first strong evidence that dense ions and electrons are not in thermal equilibrium, despite equilibration times much shorter than the duration of x-ray emission; cooler ions may arise from nonclassical thermalization rates or anomalous energy transport. The experimental platform and diagnostic technique constitute a promising new approach for studying ion-electron equilibration in dense plasmas.

2.
Nature ; 517(7532): 56-9, 2015 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-25557711

RESUMO

Nearly a century ago it was recognized that radiation absorption by stellar matter controls the internal temperature profiles within stars. Laboratory opacity measurements, however, have never been performed at stellar interior conditions, introducing uncertainties in stellar models. A particular problem arose when refined photosphere spectral analysis led to reductions of 30-50 per cent in the inferred amounts of carbon, nitrogen and oxygen in the Sun. Standard solar models using the revised element abundances disagree with helioseismic observations that determine the internal solar structure using acoustic oscillations. This could be resolved if the true mean opacity for the solar interior matter were roughly 15 per cent higher than predicted, because increased opacity compensates for the decreased element abundances. Iron accounts for a quarter of the total opacity at the solar radiation/convection zone boundary. Here we report measurements of wavelength-resolved iron opacity at electron temperatures of 1.9-2.3 million kelvin and electron densities of (0.7-4.0) × 10(22) per cubic centimetre, conditions very similar to those in the solar region that affects the discrepancy the most: the radiation/convection zone boundary. The measured wavelength-dependent opacity is 30-400 per cent higher than predicted. This represents roughly half the change in the mean opacity needed to resolve the solar discrepancy, even though iron is only one of many elements that contribute to opacity.

3.
BMC Geriatr ; 21(1): 63, 2021 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-33451296

RESUMO

BACKGROUND: The actual SARS-CoV-2 outbreak caused a highly transmissible disease with a tremendous impact on elderly people. So far, few studies focused on very elderly patients (over 80 years old). In this study we examined the clinical presentation and the outcome of the disease in this group of patients, admitted to our Hospital in Rome. METHODS: This is a single-center, retrospective study performed in the Sant'Andrea University Hospital of Rome. We included patients older than 65 years of age with a diagnosis of COVID-19, from March 2020 to May 2020, divided in two groups according to their age (Elderly: 65-80 years old; Very Elderly > 80 years old). Data extracted from the each patient record included age, sex, comorbidities, symptoms at onset, the Pneumonia Severity Index (PSI), the ratio of the partial pressure of oxygen in arterial blood (PaO2) to the inspired oxygen fraction (FiO2) (P/F) on admission, laboratory tests, radiological findings on computer tomography (CT), length of hospital stay (LOS), mortality rate and the viral shedding. The differences between the two groups were analyzed by the Fisher's exact test or the Wilcoxon signed-rank test for categorical variables and the Mann-Whitney U test for continuous variables. To assess significance among multiple groups of factors, we used the Bonferroni correction. The survival time was estimated by Kaplan-Meier method and Log Rank Test. Univariate and Multivariate logistic regression were performed to estimate associations between age, comorbidities, provenance from long-stay residential care homes (LSRCH) s and clinical outcomes. RESULTS: We found that Very Elderly patients had an increased mortality rate, also due to the frequent occurrence of multiple comorbidities. Moreover, we found that patients coming from LSRCHs appeared to be highly susceptible and vulnerable to develop severe manifestations of the disease. CONCLUSION: We demonstrate that there were considerable differences between Elderly and Very Elderly patients in terms of inflammatory activity, severity of disease, adverse clinical outcomes. To establish a correct risk stratification, comorbidities and information about provenience from LSRCHs should be considered.


Assuntos
COVID-19 , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Humanos , Estudos Retrospectivos , Fatores de Risco , SARS-CoV-2
4.
Ann Ig ; 33(6): 644-655, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34357370

RESUMO

Conclusions: Despite some limits, our findings support the notion that deep learning methods can be used to simplify the diagnostic process and improve disease management. Background: In order to help physicians and radiologists in diagnosing pneumonia, deep learning and other artificial intelligence methods have been described in several researches to solve this task. The main objective of the present study is to build a stacked hierarchical model by combining several models in order to increase the procedure accuracy. Methods: Firstly, the best convolutional network in terms of accuracy were evaluated and described. Later, a stacked hierarchical model was built by using the most relevant features extracted by the selected two models. Finally, over the stacked model with the best accuracy, a hierarchically dependent second stage model for inner-classification was built in order to detect both inflammation of the pulmonary alveolar space (lobar pneumonia) and interstitial tissue involvement (interstitial pneumonia). Results: The study shows how the adopted staked model lead to a higher accuracy. Having a high accuracy on pneumonia detection and classification can be a paramount asset to treat patients in real health-care environments.


Assuntos
Aprendizado Profundo , Saúde Pública , Inteligência Artificial , Humanos , SARS-CoV-2 , Raios X
5.
Ann Ig ; 33(3): 278-288, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33739359

RESUMO

Background: Influenza is a relevant public health problem, also due to the risk of complications. The most effective measure to prevent influenza is vaccination; therefore, at present, there is consensus among European countries, regarding the need for routine seasonal influenza vaccination of elderly and individuals at increased risk of severe influenza. At the same time, influenza surveillance is necessary to understand the viruses circulating and effectiveness of vaccination strategies. The present study reports the results of two seasons influenza surveillance (2017/2018 and 2018/2019) conduced in an University Hospital in Rome among hospitalized patients aged ≥65 years. Study design: A prospective cohort study. Methods: The study consisted of systematic daily screening of all admissions among patients aged ≥65 years meeting a syndromic SARI case definition during two consecutive influenza seasons: 2017/2018 and 2018/2019. Characteristics of patients and their risk factors were collected by a standardized questionnaire and nose-pharyngeal swabs were performed to each patient. Influenza vaccine effectiveness (IVE), rates of vaccinated subjects and case fatality rate were also evaluated. Results: Influenza was laboratory confirmed in 11 (9.9%) of the 111 and 11 (9.6%) of the 115 enrolled patients in seasons 2017/18 and 2018/19, respectively. Adjusted IVE against all influenza type, calculated for each season, was 88.5% (95% CI: 38.9 to 97.8) and 61.7% (95% CI: -59.9 to 90.9) for 2017/2018 and 2018/2019 seasons, respectively. Our analysis shows a Case Fatality Rate of 2.7% and 4.3% for the 2017/18 and 2018/19 seasons, respectively. Conclusions: The surveillance of SARI conduced in one hospital in Rome confirmed that influenza is an important cause of hospital admissions. Routine monitoring of infectious diseases and related aetiology associated with SARI, also at the local-level, is useful for targeting the right preventive measures.


Assuntos
Vacinas contra Influenza , Influenza Humana , Infecções Respiratórias , Idoso , Hospitalização , Hospitais Universitários , Humanos , Influenza Humana/epidemiologia , Influenza Humana/prevenção & controle , Estudos Prospectivos , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/prevenção & controle , Estações do Ano , Vigilância de Evento Sentinela
6.
Phys Rev Lett ; 122(1): 015002, 2019 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-31012651

RESUMO

We report on the first accurate validation of low-Z ion-stopping formalisms in the regime ranging from low-velocity ion stopping-through the Bragg peak-to high-velocity ion stopping in well-characterized high-energy-density plasmas. These measurements were executed at electron temperatures and number densities in the range of 1.4-2.8 keV and 4×10^{23}-8×10^{23} cm^{-3}, respectively. For these conditions, it is experimentally demonstrated that the Brown-Preston-Singleton formalism provides a better description of the ion stopping than other formalisms around the Bragg peak, except for the ion stopping at v_{i}∼0.3v_{th}, where the Brown-Preston-Singleton formalism significantly underpredicts the observation. It is postulated that the inclusion of nuclear-elastic scattering, and possibly coupled modes of the plasma ions, in the modeling of the ion-ion interaction may explain the discrepancy of ∼20% at this velocity, which would have an impact on our understanding of the alpha energy deposition and heating of the fuel ions, and thus reduce the ignition threshold in an ignition experiment.

7.
Phys Rev Lett ; 122(23): 235001, 2019 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-31298873

RESUMO

The first systematic study of opacity dependence on atomic number at stellar interior temperatures is used to evaluate discrepancies between measured and modeled iron opacity [J. E. Bailey et al., Nature (London) 517, 56 (2015)NATUAS0028-083610.1038/nature14048]. High-temperature (>180 eV) chromium and nickel opacities are measured with ±6%-10% uncertainty, using the same methods employed in the previous iron experiments. The 10%-20% experiment reproducibility demonstrates experiment reliability. The overall model-data disagreements are smaller than for iron. However, the systematic study reveals shortcomings in models for density effects, excited states, and open L-shell configurations. The 30%-45% underestimate in the modeled quasicontinuum opacity at short wavelengths was observed only from iron and only at temperature above 180 eV. Thus, either opacity theories are missing physics that has nonmonotonic dependence on the number of bound electrons or there is an experimental flaw unique to the iron measurement at temperatures above 180 eV.

8.
Phys Rev Lett ; 122(3): 035001, 2019 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-30735406

RESUMO

Fuel-ion species dynamics in hydrodynamiclike shock-driven DT^{3}He-filled inertial confinement fusion implosion is quantitatively assessed for the first time using simultaneously measured D^{3}He and DT reaction histories. These reaction histories are measured with the particle x-ray temporal diagnostic, which captures the relative timing between different nuclear burns with unprecedented precision (∼10 ps). The observed 50±10 ps earlier D^{3}He reaction history timing (relative to DT) cannot be explained by average-ion hydrodynamic simulations and is attributed to fuel-ion species separation between the D, T, and ^{3}He ions during shock convergence and rebound. At the onset of the shock burn, inferred ^{3}He/T fuel ratio in the burn region using the measured reaction histories is much higher as compared to the initial gas-filled ratio. As T and ^{3}He have the same mass but different charge, these results indicate that the charge-to-mass ratio plays an important role in driving fuel-ion species separation during strong shock propagation even for these hydrodynamiclike plasmas.

9.
Lupus ; 27(1): 105-111, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28592200

RESUMO

Objective Several studies have evaluated the prevalence of rheumatoid factor (RF) and anti-citrullinated proteins antibodies (ACPA) in systemic lupus erythematosus (SLE) patients but no data are available on the anti-carbamylated proteins (anti-CarP), a new biomarker for rheumatoid arthritis (RA). We evaluated the anti-CarP prevalence in SLE patients with joint involvement and the associations with different phenotypes. Methods Seventy-eight SLE patients with joint involvement were enrolled (F/M 73/5; mean ± SD age 47.6 ± 11.2 years; mean ± SD disease duration 214.3 ± 115.6 months). As control groups, we evaluated SLE patients without joint manifestations ( N = 15), RA ( N = 78) and healthy individuals (HS, N = 98). Anti-CarP were assessed by home-made ELISA in all patients and controls, RF and ACPA in SLE patients with joint involvement (commercial ELISA kit). Results The prevalence of anti-CarP in SLE patients with joint involvement was similar to RA ( p = NS) and significantly higher compared with SLE without joint involvement and HS ( p < 0.0001, p < 0.0001, respectively). Four patients were positive for all three antibodies: seventy-five percent of these showed Jaccoud arthropathy. Fourty-five percent of ACPA-ve/RF-ve patients were anti-CarP + ve. Conclusions The evaluation of anti-CarP in SLE joint involvement demonstrated a prevalence of almost 50%, similar to RA and significantly higher than SLE without joint involvement and HS.


Assuntos
Autoanticorpos/sangue , Artropatias/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Adulto , Estudos de Casos e Controles , Cianatos/imunologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
10.
HIV Med ; 18(7): 474-481, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28116848

RESUMO

OBJECTIVES: The aim of the study was to assess plasma concentrations of darunavir/ritonavir and raltegravir in older patients compared with younger patients with HIV-1 infection. METHODS: In this observational, open-label study, adult HIV-infected out-patients aged ≤ 40 years (younger patients) or ≥ 60 years (older patients) and treated with tenofovir/emtricitabine plus darunavir/ritonavir (800/100 mg daily) or raltegravir (400 mg twice daily) were asked to participate. The trough concentrations (Ctrough ) of darunavir/ritonavir and raltegravir were assessed at steady state using a validated high-performance liquid chromatography (HPLC)-tandem mass spectrometry method. RESULTS: A total of 88 HIV-positive patients were enrolled in the study. Forty-six patients were treated with darunavir/ritonavir, and 42 with raltegravir. The geometric mean plasma Ctrough (coefficient of variation) of raltegravir was comparable between the 19 older and 23 younger subjects: 106 ng/mL (151%) and 94 ng/mL (129%), respectively [geometric mean ratio (GMR) 0.85; 95% confidence interval (CI) 0.71-1.57; P = 0.087]. In contrast, the geometric mean plasma Ctrough of darunavir was significantly higher among the 21 older patients [2209 ng/mL (139%)] than among the 25 younger patients [1876 ng/mL (162%); GMR 1.56; 95% CI: 1.22-1.88; P = 0.004]. Similarly, the geometric mean Ctrough of ritonavir was significantly higher among older than among younger individuals. CONCLUSIONS: The mean plasma Ctrough of darunavir and ritonavir was significantly higher in older patients than in younger patients with HIV-1 infection, while the mean plasma level of raltegravir was comparable in the two groups. However, both regimens showed good tolerability in both younger and older subjects.


Assuntos
Fármacos Anti-HIV/farmacocinética , Darunavir/farmacocinética , Infecções por HIV/tratamento farmacológico , Plasma/química , Ritonavir/farmacocinética , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Fármacos Anti-HIV/administração & dosagem , Cromatografia Líquida de Alta Pressão , Darunavir/administração & dosagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ritonavir/administração & dosagem , Espectrometria de Massas em Tandem
11.
Phys Rev Lett ; 119(7): 075001, 2017 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-28949679

RESUMO

The interpretation of x-ray spectra emerging from x-ray binaries and active galactic nuclei accreted plasmas relies on complex physical models for radiation generation and transport in photoionized plasmas. These models have not been sufficiently experimentally validated. We have developed a highly reproducible benchmark experiment to study spectrum formation from a photoionized silicon plasma in a regime comparable to astrophysical plasmas. Ionization predictions are higher than inferred from measured absorption spectra. Self-emission measured at adjustable column densities tests radiation transport effects, demonstrating that the resonant Auger destruction assumption used to interpret black hole accretion spectra is inaccurate.

12.
Phys Rev Lett ; 118(13): 135001, 2017 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-28409959

RESUMO

We present narrow-band self-emission x-ray images from a titanium tracer layer placed at the fuel-shell interface in 60-laser-beam implosion experiments at the OMEGA facility. The images are acquired during deceleration with inferred convergences of ∼9-14. Novel here is that a systematically observed asymmetry of the emission is linked, using full sphere 3D implosion modeling, to performance-limiting low mode asymmetry of the drive.

13.
Analyst ; 142(11): 2020-2028, 2017 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-28487921

RESUMO

Gold nanoparticles (AuNPs) are widely used in biomedical applications for drug targeting and bioimaging. This often neccesitates their functionalization with biomolecules carrying a defined biological function, yielding gold nanoparticle bioconjugates. The utilization of triplex-forming oligonucleotides (TFOs) as ligands gives access to nanoconjugates as tools for specific DNA-related nanotargeting via triplex hybridization. Since triplex hybridization with nanobioconjugates has to date not been shown on biologically relevant samples, sex-specific sperm marking may be an appropriate model system to demonstrate the opportunities of this targeting method in vitro. In this study, we focused on specific labeling of repetitive target sites enriched on the bovine Y-chromosome using triplex forming oligonucleotides. First, the functionality of a specific locked nucleic acid (LNA) sequence was confirmed on bovine free DNA and on demembranated sperm heads. Thereafter, the influence of AuNPs on triplex hybridization was spectrophotometrically analyzed employing synthetic dsDNA, genomic DNA and demembranated sperm heads. Results from the SPR-peak shift indicate that TFO-AuNP hybridize to bovine gDNA in a qualitative and significant manner. These results confirm successful triplex hybridization on biologically relevant target sites as well as the establishment of a method to use gold nanoparticles as a suitable tool for sex-selective hybridization.


Assuntos
Bovinos/genética , DNA/análise , Ouro , Nanopartículas Metálicas , Hibridização de Ácido Nucleico , Espermatozoides , Cromossomo Y/genética , Animais , Masculino
14.
Clin Exp Rheumatol ; 33(6): 824-30, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26411477

RESUMO

OBJECTIVES: To investigate the prevalence of anti-carbamylated protein antibodies (anti-CarP) in the healthy first-degree relatives (HFDRs) of patients with rheumatoid arthritis (RA). METHODS: We enrolled 141 HFDRs of 63 patients with RA diagnosed accordingly to the 2010 ACR/EULAR criteria. Fifty-six normal healthy subjects (NHS), sex- and age-matched, served as controls. Anti-CarP IgG, anti-cyclic citrullinated peptide antibody (anti-CCP) IgG and rheumatoid factors (RF) isotypes (IgG, IgA, IgM) were assessed by solid-phase ELISA. RESULTS: Anti-CarP were detectable in 13 HFDRs (9.2%), anti-CCP in 9 (6.3%), IgG-RF in 10 (7%), IgA-RF in 17 (12%), and IgM-RF in 13 (9.2%) HFDRs. Twenty-nine (46%) RA patients were positive for anti-CarP, 31 (49.2%) for anti-CCP, and 34 (53.9%) for RF. One NHS (1.7%) resulted positive for anti-CarP, none for anti-CCP and RF. Anti-CarP showed significantly higher serum levels in RA and HFDRs than in NHS (p<0.0001 and p=0.0012, respectively). A significant correlation between anti-CCP and RF were found among RA patients (p=0.0002), whereas no correlations were reported between autoantibodies tested in the HFDRs. CONCLUSIONS: Anti-CarP can be found in the sera of HFDRs of RA patients and their prevalence is significantly higher than in NHS. No correlation of anti-CarP with anti-CCP and RF antibodies in RA HFDRs was found.


Assuntos
Artrite Reumatoide , Autoanticorpos/sangue , Carbamatos/imunologia , Família , Peptídeos Cíclicos/imunologia , Fator Reumatoide/sangue , Adulto , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/imunologia , Autoantígenos/imunologia , Saúde da Família , Feminino , Humanos , Testes Imunológicos/métodos , Masculino , Estatística como Assunto
15.
Reprod Domest Anim ; 50 Suppl 2: 56-60, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26174920

RESUMO

As in other mammals, sex sorting of pig sperm is based on quantitative flow cytometry. A major disadvantage of the technique is the relatively low efficiency to produce enough sorted sperm for artificial insemination. However, several approaches are on the way to make sexed pig sperm available for commercial application. In this context, for example, the growing field of nanotechnology may significantly contribute to these developments, as it provides highly efficient bio-nanoprobes, for example, based on plasmonic nanoparticles. Independent of the method, further development requires enormous investments and set-up of logistics to get the technology into the practical pig market. Only global players will be able to establish the necessary research projects, but in the end, a significant shift of sex ratios will be available for pig producers as it is already the case for the dairy industry.


Assuntos
Separação Celular/veterinária , Pré-Seleção do Sexo/veterinária , Espermatozoides/citologia , Suínos , Animais , Separação Celular/métodos , Fertilização in vitro/métodos , Fertilização in vitro/veterinária , Citometria de Fluxo/veterinária , Inseminação Artificial/métodos , Inseminação Artificial/veterinária , Masculino , Nanopartículas , Nanotecnologia , Pré-Seleção do Sexo/métodos , Contagem de Espermatozoides , Fatores de Tempo
16.
Poult Sci ; 94(2): 296-301, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25609690

RESUMO

The objective was to determine the effects of oral lithium chloride supplementation on bone strength and mass in broiler chickens. Ninety-six broilers were assigned to 1 of 2 treatment groups (lithium chloride or control; n=48/treatment). Beginning at 1 or 3 wk of age, chickens were administered lithium chloride (20 mg/kg body weight) or water daily by oral gavage. At 6 wk of age, chickens were euthanized and bone and muscle samples were collected. A 24 h lithium chloride (20 mg/kg body weight) challenge determined that serum lithium chloride increased within 2 h and cleared the system within 24 h, demonstrating the effective delivery of lithium chloride. Treatment did not influence body weight (P≥0.20) or feed intake (P≥0.81), demonstrating that lithium chloride did not negatively affect broiler growth. To determine bone strength, 3-point bending was performed on the femora and tibiae obtained from control and lithium chloride-treated birds in the 1 wk group. Lithium chloride-treated birds had a 22% reduction in stiffness compared with control in the femora (P=0.02) without a corresponding reduction in elastic modulus. No differences were observed in yield or ultimate load and in the corresponding calculations of stresses (P≥0.26). The toughness of tibiae was not altered in lithium chloride compared with control (P=0.11). Bone length and micro-CT imaging were performed on the tibiae of control and lithium chloride groups. No differences (P≥0.52) in bone length, cortical or trabecular bone volume, trabecular thickness, number, or spacing were observed. Lithium chloride treatment did not affect pectoralis muscle color or lipid oxidation (P>0.05). In conclusion, lithium chloride treatment in broilers did not negatively affect growth or meat quality. A reduction in bone stiffness of the femur with lithium chloride treatment was observed, however unlike the mouse model, the dosages of lithium chloride used in the current study did not result in anabolic effects on broiler long bones.


Assuntos
Densidade Óssea/efeitos dos fármacos , Desenvolvimento Ósseo/efeitos dos fármacos , Galinhas/crescimento & desenvolvimento , Cloreto de Lítio/farmacologia , Animais , Fenômenos Biomecânicos , Esquema de Medicação , Peroxidação de Lipídeos , Cloreto de Lítio/administração & dosagem , Masculino
17.
Clin Genet ; 86(3): 252-7, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24033287

RESUMO

The mode of inheritance of Alport syndrome (ATS) has long been controversial. In 1927, the disease was hypothesized as a dominant condition in which males were more severely affected than females. In 1990, it was considered an X-linked (XL) semidominant condition, due to COL4A5 mutations. Later on, a rare autosomal recessive (AR) form due to COL4A3/COL4A4 mutations was identified. An autosomal dominant (AD) form was testified more recently by the description of some large pedigrees but the real existence of this form is still questioned by many and its exact prevalence is unknown. The introduction of next generation sequencing (NGS) allowed us to perform an unbiased simultaneous COL4A3-COL4A4-COL4A5 analysis in 87 Italian families (273 individuals) with clinical suspicion of ATS. In 48 of them (55%), a mutation in one of the three genes was identified: the inheritance was XL semidominant in 65%, recessive in 4% and most interestingly AD in 31% (15 families). The AD form must therefore be seriously taken into account in all pedigrees with affected individuals in each generation. Furthermore, a high frequency of mutations (>50%) was shown in patients with only 1 or 2 clinical criteria, suggesting NGS as first-level analysis in cases with a clinical suspicion of ATS.


Assuntos
Autoantígenos/genética , Colágeno Tipo IV/genética , Padrões de Herança/genética , Nefrite Hereditária/genética , Sequência de Bases , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Itália , Masculino , Dados de Sequência Molecular , Mutação/genética , Linhagem
18.
Rev Sci Instrum ; 95(4)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38624362

RESUMO

An experimental platform is developed for the investigation of the Zeeman effect in strong magnetic fields. Mega-Gauss magnetic fields are generated by a 1 MA Zebra pulsed power machine using metal rod loads. A gas jet or CH oil on the load is the source of hydrogen. Excited hydrogen atoms are backlit by black body radiation from the rod load. Hydrogen absorption spectra are recorded with a grating spectrometer and intensified gated CCD camera. The experimental platform enables the observation of the quadratic Zeeman effect in hydrogen gas jets using the spectral shift of the central line in the Zeeman triplet. Other gases can be studied using the gas jet method.

19.
Phys Rev Lett ; 111(4): 045001, 2013 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-23931375

RESUMO

Mixing of plastic ablator material, doped with Cu and Ge dopants, deep into the hot spot of ignition-scale inertial confinement fusion implosions by hydrodynamic instabilities is diagnosed with x-ray spectroscopy on the National Ignition Facility. The amount of hot-spot mix mass is determined from the absolute brightness of the emergent Cu and Ge K-shell emission. The Cu and Ge dopants placed at different radial locations in the plastic ablator show the ablation-front hydrodynamic instability is primarily responsible for hot-spot mix. Low neutron yields and hot-spot mix mass between 34(-13,+50) ng and 4000(-2970,+17 160) ng are observed.

20.
Eur J Clin Microbiol Infect Dis ; 32(9): 1183-92, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23584672

RESUMO

We evaluated matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) Biotyper as a tool for the identification of anaerobic bacteria compared with 500 base-pair (bp) 16S ribosomal ribonucleic acid (rRNA) gene sequencing analysis, which is considered to be the "gold standard" method. A total of 484 anaerobic bacteria were retrieved from the clinical specimens of 318 pediatric patients. Molecular identification resulted in 18 genera and 51 species. The most prevalent genus was Clostridium (76.85 %), with 70 % C. difficile isolates. The concordance and sensitivity determined by MALDI-TOF MS for C. difficile, the most prevalent species isolated, was 94.08 %, whereas the specificity was 100 %. For the other anaerobes, the sensitivity and specificity were 94.07 % and 81.82 %, respectively, with a concordance of 93.15 %. Low performance was observed for Propionibacterium acnes and Fusobacterium nucleatum, for which a dedicated pretreatment procedure should likely be set up. MALDI-TOF MS was shown to be a valid alternative for the fast and reliable identification of the most clinically relevant anaerobic bacteria; moreover, it is less time-consuming, the cost for reagents is minimized, and it does not require dedicated personnel.


Assuntos
Bactérias Anaeróbias/classificação , Infecções Bacterianas/diagnóstico , Técnicas de Tipagem Bacteriana/métodos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Bactérias Anaeróbias/isolamento & purificação , Bacteroides/isolamento & purificação , Sequência de Bases , Criança , Clostridium/classificação , Clostridium/isolamento & purificação , DNA Bacteriano/análise , Fusobacterium nucleatum/isolamento & purificação , Humanos , Prevotella/isolamento & purificação , Propionibacterium acnes/isolamento & purificação , RNA Ribossômico 16S/genética , Análise de Sequência de RNA
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA