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1.
Platelets ; 33(4): 652-653, 2022 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-35225144

RESUMO

In 2021, the world experienced the most extensive vaccination campaign to defeat COVID-19. Many cases of idiopathic thrombocytopenia have been reported following injections of SARS-Cov-2 mRNA vaccine. We present the case of a 73-year-old woman with de novo ITP after a first injection of SARS-Cov-2 mRNA vaccine (Moderna vaccine) who experienced a successful rechallenge of SARS-Cov-2 mRNA vaccine (Pfizer vaccine) a few months later.


Assuntos
COVID-19 , Púrpura Trombocitopênica Idiopática , Vacinas , Idoso , Vacinas contra COVID-19/efeitos adversos , Feminino , Humanos , Púrpura Trombocitopênica Idiopática/etiologia , RNA Mensageiro , SARS-CoV-2 , Vacinas Sintéticas , Vacinas de mRNA
2.
Genes (Basel) ; 11(5)2020 05 20.
Artigo em Inglês | MEDLINE | ID: mdl-32443863

RESUMO

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variability has not been quantified. We analyzed the distribution of 23 clinical features in 1306 well-phenotyped MFS patients carrying FBN1 mutations. We found strong correlations between features within the same system (i.e., ophthalmology vs. skeletal vs. cardiovascular) suggesting common underlying determinants, while features belonging to different systems were largely uncorrelated. We adapted a classical quantitative genetics model to estimate the heritability of each clinical feature from phenotypic correlations between relatives. Most clinical features showed strong familial aggregation and high heritability. We found a significant contribution by the major locus on the phenotypic variance only for ectopia lentis using a new strategy. Finally, we found evidence for the "Carter effect" in the MFS cardiovascular phenotype, which supports a polygenic model for MFS cardiovascular variability and indicates additional risk for children of MFS mothers with an aortic event. Our results demonstrate that an important part of the phenotypic variability in MFS is under the control of inherited modifiers, widely shared between features within the same system, but not among different systems. Further research must be performed to identify genetic modifiers of MFS severity.


Assuntos
Ectopia do Cristalino/genética , Fibrilina-1/genética , Fibrilinas/genética , Síndrome de Marfan/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Aorta/metabolismo , Aorta/patologia , Ectopia do Cristalino/fisiopatologia , Feminino , Genótipo , Humanos , Masculino , Síndrome de Marfan/fisiopatologia , Proteínas dos Microfilamentos/genética , Pessoa de Meia-Idade , Mutação/genética , Fenótipo , Adulto Jovem
3.
Sci Rep ; 9(1): 9446, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31263207

RESUMO

Operating at high temperatures in the range of thermoelectric coolers is essential for terahertz quantum cascade lasers to real applications. The use of scattering-assisted injection scheme enables an increase in operating temperature. This concept, however, has not been implemented in a short-period structure consisting of two quantum wells. In this work, based on non-equilibrium Green's function calculations, it emphasizes on the current leakage and parasitic absorption via high-energy states as fundamental limitations in this scheme with short-period. A new design concept employing asymmetric wells composition is proposed to suppress these limitations. A peak gain of 40 cm-1 at 230 K is predicted in the GaAs/AlGaAs semiconductor material system with an emission frequency of 3.5 THz.

4.
Hum Mol Genet ; 27(7): 1164-1173, 2018 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-29360981

RESUMO

Acute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway caused by mutations of the hydroxymethylbilane synthase (HMBS) gene. AIP is thought to display autosomal dominant inheritance with incomplete penetrance. We evaluated the prevalence, penetrance and heritability of AIP, in families with the disease from the French reference center for porphyria (CFP) (602 overt patients; 1968 relatives) and the general population, using Exome Variant Server (EVS; 12 990 alleles) data. The pathogenicity of the 42 missense variants identified was assessed in silico, and in vitro, by measuring residual HMBS activity of the recombinant protein. The minimal estimated prevalence of AIP in the general population was 1/1299. Thus, 50 000 subjects would be expected to carry the AIP genetic trait in France. Penetrance was estimated at 22.9% in families with AIP, but at only 0.5-1% in the general population. Intrafamily correlation studies showed correlations to be strong overall and modulated by kinship and the area in which the person was living, demonstrating strong influences of genetic and environmental modifiers on inheritance. Null alleles were associated with a more severe phenotype and a higher penetrance than for other mutant alleles. In conclusion, the striking difference in the penetrance of HMBS mutations between the general population and the French AIP families suggests that AIP inheritance does not follow the classical autosomal dominant model, instead of being modulated by strong environmental and genetic factors independent from HMBS. An oligogenic inheritance model with environmental modifiers might better explain AIP penetrance and heritability.


Assuntos
Bases de Dados de Ácidos Nucleicos , Interação Gene-Ambiente , Hidroximetilbilano Sintase/genética , Mutação de Sentido Incorreto , Penetrância , Porfiria Aguda Intermitente/genética , Feminino , França/epidemiologia , Humanos , Masculino , Porfiria Aguda Intermitente/enzimologia , Porfiria Aguda Intermitente/epidemiologia , Prevalência
5.
Nano Lett ; 16(4): 2159-67, 2016 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-26918518

RESUMO

In the past decade, nanomaterials have made their way into a variety of technologies in solar energy, enhancing the performance by taking advantage of the phenomena inherent to the nanoscale. Recent examples exploit plasmonic core/shell nanoparticles to achieve efficient direct steam generation, showing great promise of such nanoparticles as a useful material for solar applications. In this paper, we demonstrate a novel technique for fabricating bimetallic hollow mesoporous plasmonic nanoshells that yield a higher solar vapor generation rate compared with their solid-core counterparts. On the basis of a combination of nanomasking and incomplete galvanic replacement, the hollow plasmonic nanoshells can be fabricated with tunable absorption and minimized scattering. When exposed to sun light, each hollow nanoshell generates vapor bubbles simultaneously from the interior and exterior. The vapor nucleating from the interior expands and diffuses through the pores and combines with the bubbles formed on the outer wall. The lack of a solid core significantly accelerates the initial vapor nucleation and the overall steam generation dynamics. More importantly, because the density of the hollow porous nanoshells is essentially equal to the surrounding host medium these particles are much less prone to sedimentation, a problem that greatly limits the performance and implementation of standard nanoparticle dispersions.

6.
Nano Lett ; 15(10): 6290-4, 2015 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-26325603

RESUMO

Bright single photon sources have recently been obtained by inserting solid-state emitters in microcavities. Accelerating the spontaneous emission via the Purcell effect allows both high brightness and increased operation frequency. However, achieving Purcell enhancement is technologically demanding because the emitter resonance must match the cavity resonance. Here, we show that this spectral matching requirement is strongly lifted by the phononic environment of the emitter. We study a single InGaAs quantum dot coupled to a micropillar cavity. The phonon assisted emission, which hardly represents a few percent of the dot emission at a given frequency in the absence of cavity, can become the main emission channel by use of the Purcell effect. A phonon-tuned single photon source with a brightness greater than 50% is demonstrated over a detuning range covering 10 cavity line widths (0.8 nm). The same concepts applied to defects in diamonds pave the way toward ultrabright single photon sources operating at room temperature.

7.
Phys Rev Lett ; 114(19): 193601, 2015 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-26024171

RESUMO

We investigate theoretically the generation of indistinguishable single photons from a strongly dissipative quantum system placed inside an optical cavity. The degree of indistinguishability of photons emitted by the cavity is calculated as a function of the emitter-cavity coupling strength and the cavity linewidth. For a quantum emitter subject to strong pure dephasing, our calculations reveal that an unconventional regime of high indistinguishability can be reached for moderate emitter-cavity coupling strengths and high-quality factor cavities. In this regime, the broad spectrum of the dissipative quantum system is funneled into the narrow line shape of the cavity. The associated efficiency is found to greatly surpass spectral filtering effects. Our findings open the path towards on-chip scalable indistinguishable-photon-emitting devices operating at room temperature.

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