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1.
Nanomaterials (Basel) ; 14(8)2024 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-38668221

RESUMO

Sputtering of silicon in a He magnetron discharge (MS) has been reported as a bottom-up procedure to obtain He-charged silicon films (i.e., He nanobubbles encapsulated in a silicon matrix). The incorporation of heavier noble gases is demonstrated in this work with a synergistic effect, producing increased Ne and Ar incorporations when using He-Ne and He-Ar gas mixtures in the MS process. Microstructural and chemical characterizations are reported using ion beam analysis (IBA) and scanning and transmission electron microscopies (SEM and TEM). In addition to gas incorporation, He promotes the formation of larger nanobubbles. In the case of Ne, high-resolution X-ray photoelectron and absorption spectroscopies (XPS and XAS) are reported, with remarkable dependence of the Ne 1s photoemission and the Ne K-edge absorption on the nanobubble's size and composition. The gas (He, Ne and Ar)-charged thin films are proposed as "solid" targets for the characterization of spectroscopic properties of noble gases in a confined state without the need for cryogenics or high-pressure anvils devices. Also, their use as targets for nuclear reaction studies is foreseen.

2.
Transplant Cell Ther ; 30(3): 306.e1-306.e12, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38184148

RESUMO

Chimeric antigen receptor T cells (CAR-T) has emerged as a promising therapy, over 60% of patients fail to sustain a long-term response. The underlying factors that leads to the effectiveness of this therapy are not completely understood, CAR-T cell persistence and monitoring seems to be pivotal for ensuring a successful response. Various monitoring methods such as multiparametric flow cytometry (MFC) or quantitative PCR (qPCR) have been applied. Our objective is to develop digital PCR (dPCR) assays for detection and quantification of CAR-T cells, comparing them with MFC and qPCR. Samples taken at different follow-up times from 45 patients treated with CAR-T therapy were analyzed to assess the correlation between the different methodologies. dPCR presented a high correlation with MFC and qPCR (r = 0.97 and r = 0.87, respectively), while offering a higher sensitivity (0.01%) compared to MFC (0.1%) and qPCR (1%). dPCR emerged as an alternative and highly sensitivity method for monitoring CAR-T cell dynamics. This technique is well-suited for implementation in clinical practice as a complementary technique to MFC.


Assuntos
Linfoma de Células B , Receptores de Antígenos Quiméricos , Humanos , Receptores de Antígenos Quiméricos/genética , Imunoterapia Adotiva/efeitos adversos , Linfoma de Células B/etiologia , Linfócitos T , Reação em Cadeia da Polimerase
3.
Nanomaterials (Basel) ; 11(9)2021 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-34578642

RESUMO

Formic acid is an advantageous liquid organic hydrogen carrier. It is relatively nontoxic and can be synthesized by the reaction of CO2 with sustainable hydrogen or by biomass decomposition. As an alternative to more widely studied powdery catalysts, supported Pd-C catalytic thin films with controlled nanostructure and compositions were newly prepared in this work by magnetron sputtering on structured supports and tested for the formic acid decomposition reaction. A two-magnetron configuration (carbon and tailored Pd-C targets) was used to achieve a reduction in Pd consumption and high catalyst surface roughness and dispersion by increasing the carbon content. Activity and durability tests were carried out for the gas phase formic acid decomposition reaction on SiC foam monoliths coated with the Pd-C films and the effects of column width, surface roughness and thermal pre-reduction time were investigated. Activity of 5.04 molH2·gPd-1·h-1 and 92% selectivity to the dehydrogenation reaction were achieved at 300 °C for the catalyst with a lower column width and higher carbon content and surface roughness. It was also found that deactivation occurs when Pd is sintered due to the elimination of carbon and/or the segregation and agglomeration of Pd upon cycling. Magnetron sputtering deposition appears as a promising and scalable route for the one-step preparation of Pd-C catalytic films by overcoming the different deposition characteristics of Pd and C with an appropriate experimental design.

4.
ACS Omega ; 1(6): 1229-1238, 2016 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-31457191

RESUMO

In this work, we present our magnetron sputtering based methodology to produce amorphous silicon coatings with closed porosity, as a strategy to fabricate solid helium targets, in the form of supported or self-supported thin films, for nuclear reactions. We show how by changing the He working pressure it is possible to obtain highly porous homogeneous structures incorporating different He amounts. These porous coatings (a-Si:He) are very reproducible from run to run, and the high He amount incorporated makes them excellent candidates for solid He targets. The possibility of producing self-supported films is illustrated here, and its potential use in inverse kinematics experiments with radioactive beams is shown through the dispersion in forward geometry of a stable 6Li beam. Also the elastic scattering cross-sections for proton from helium were determined using an a-Si:He coating. The results agree well with the ones reported in the literature. These two examples validate our coatings as good candidates to be used as solid He targets in nuclear reactions. The stability of He inside the coatings, fundamental for its use as solid He targets, was investigated, both over time and after irradiation. The coatings proved to be very stable, and the amount of He inside the pores remains unaltered at least 2 years after deposition and after high irradiation fluence (5 × 1017 particles/cm2; with a dose rate of 5 × 1012 particles/(cm2 s)).

5.
Nanoscale ; 7(40): 16583-9, 2015 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-26400500

RESUMO

Herein we show a solution based synthetic pathway to obtain a resonant optical cavity with embedded colloidal semiconductor quantum dots (CSQDs). The optical cavity pore network, surrounded by two dense Bragg mirrors, was designed ad hoc to selectively host the quantum dots, while uncontrolled infiltration of those in the rest of the layered structure was prevented. Coupling between the optical resonant modes of the host and the natural emission of the embedded nanoparticles gives rise to the fine tuning of the luminescence spectrum extracted from the ensemble. Our approach overcomes, without the need for an encapsulating agent and exclusively by solution processing, the difficulties that arise from the low thermal and chemical stability of the CSQDs. It opens the route to achieving precise control over their location and hence over the spectral properties of light emitted by these widely employed nanomaterials. Furthermore, as the porosity of the cavity is preserved after infiltration, the system remains responsive to environmental changes, which provides an added value to the proposed structure.

6.
ACS Appl Mater Interfaces ; 7(25): 13889-97, 2015 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-26046812

RESUMO

The fabrication of single-material photonic-multilayer devices is explored using a new methodology to produce porous silicon layers by magnetron sputtering. Our bottom-up methodology produces highly stable amorphous porous silicon films with a controlled refractive index using magnetron sputtering and incorporating a large amount of deposition gas inside the closed pores. The influence of the substrate bias on the formation of the closed porosity was explored here for the first time when He was used as the deposition gas. We successfully simulated, designed, and characterized Bragg reflectors and an optical microcavity that integrates these porous layers. The sharp interfaces between the dense and porous layers combined with the adequate control of the refractive index and thickness allowed for excellent agreement between the simulation and the experiments. The versatility of the magnetron sputtering technique allowed for the preparation of these structures for a wide range of substrates such as polymers while also taking advantage of the oblique angle deposition to prepare Bragg reflectors with a controlled lateral gradient in the stop band wavelengths.

7.
Rev Esp Cardiol (Engl Ed) ; 68(12): 1092-100, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25936614

RESUMO

INTRODUCTION AND OBJECTIVES: Some reports have described a change in the etiologic spectrum of constrictive pericarditis. In addition, data on the relationship between its clinical presentation and etiology are lacking. We sought to describe the etiologies of the disease, their relationship with its clinical presentation and surgical findings, and to identify predictors of poor outcome. METHODS: We analyzed 140 consecutive patients who underwent surgery for constrictive pericarditis over a 34-year period in a single center. RESULTS: The etiology was idiopathic in 76 patients (54%), acute idiopathic pericarditis in 24 patients (17%), tuberculous pericarditis in 15 patients (11%), purulent pericarditis in 10 patients (7%), and cardiac surgery, radiation and uremia in 5, 3 and 2 patients respectively (4%, 2% and 1%). Mean duration of symptoms before pericardiectomy was 19 months (standard deviation, 44 months), the most acute presentation being for purulent pericarditis (26 days [range, 7-60 days]) and the most chronic for idiopathic cases (29 months [range, 4 days-360 months]). Perioperative mortality was 11%. There was no difference in mortality between etiologies. Median follow-up was 12 years (range, 0.1-33.0 years) in which 50 patients died. In a Cox-regression analysis, age at surgery, advanced New York Heart Association functional class (III to IV) and previous acute idiopathic pericarditis were associated with increased mortality during follow-up. CONCLUSIONS: Most cases of constrictive pericarditis are idiopathic. Cardiac surgery and radiation accounted for a minority of cases. Etiologic investigations are warranted only in acute or subacute presentations. Age, advanced functional class, and previous acute idiopathic pericarditis are associated with increased mortality.


Assuntos
Pericardite Constritiva/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Pericardiectomia/mortalidade , Pericardite Constritiva/mortalidade , Pericardite Constritiva/cirurgia , Prognóstico , Estudos Retrospectivos , Adulto Jovem
8.
Nutr Hosp ; 31(5): 1968-76, 2015 May 01.
Artigo em Espanhol | MEDLINE | ID: mdl-25929364

RESUMO

OBJECTIVE: The aim of this study is to analyze the behavior in choosing food among Spanish young teens, and its effect on the potential problems related to their weight (overweight and obesity) and other socio-demographic variables. METHODOLOGY: In the study included 590 students attended public and private schools in the city of Valencia, aged between 14 and 17 years, randomly selected. A personal questionnaire based on the Food Choice Questionnaire was conducted. RESULTS: In general, young people choose their food based on the sensory aspects and the price thereof, and do not care about the effects on weight have their eating habits. No differences between students in public or private schools, or between those with normal weight or overweight are detected. If there is any difference in terms of gender of the respondent. CONCLUSIONS: Teens, when food choices are not very aware of the possible effects of these on their current and future health.


Objetivo: El objetivo del presente trabajo se centra en analizar el comportamiento en la elección de los alimentos entre los jóvenes adolescentes españoles, así como su efecto sobre los posibles problemas relacionados con su peso (sobrepeso y obesidad) y otras variables socio-demográficas. Método: En el estudio participaron 590 alumnos de colegios públicos y privados de la ciudad de Valencia, con edades entre los 14 y 17 años, elegidos aleatoriamente. Se realizó un cuestionario personal basado en el Food Choice Questionaire. Resultados: En general, los jóvenes eligen sus alimentos en función de los aspectos sensoriales y el precio de los mismos, y no les preocupan los efectos que sobre su peso tienen sus hábitos alimentarios. No se detectan diferencias entre los alumnos de centros públicos o privados, ni tampoco entre aquellos con normopeso o sobrepeso. Si que existe alguna diferencia en cuanto al género del encuestado. Conclusiones: Los adolescentes, a la hora de elegir su alimentación, no son muy conscientes de los posibles efectos de los mismos sobre su salud actual y futura.


Assuntos
Preferências Alimentares , Sobrepeso/epidemiologia , Inquéritos e Questionários , Adolescente , Estudos Transversais , Comportamento Alimentar , Feminino , Humanos , Masculino , Fatores Socioeconômicos , Espanha/epidemiologia
9.
Am J Med Genet A ; 167A(4): 786-90, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25655674

RESUMO

The 10q26 deletion syndrome is a clinically heterogeneous disorder. The most common phenotypic characteristics include pre- and/or postnatal growth retardation, microcephaly, developmental delay/intellectual disability and a facial appearance consisting of a broad nasal bridge with a prominent nose, low-set malformed ears, strabismus, and a thin vermilion of the upper lip. In addition, limb and cardiac anomalies as well as urogenital anomalies are occasionally observed. In this report, we describe three unrelated females with 10q26 terminal deletions who shared clinical features of the syndrome, including urogenital defects. Cytogenetic studies showed an apparently de novo isolated deletion of the long arm of chromosome 10, with breakpoints in 10q26.1, and subsequent oligo array-CGH analysis confirmed the terminal location and defined the size of the overlapping deletions as ∼ 13.46, ∼ 9.31 and ∼ 9.17 Mb. We compared the phenotypic characteristics of the present patients with others reported to have isolated deletions and we suggest that small 10q26.2 terminal deletions may be associated with growth retardation, developmental delay/intellectual disability, craniofacial features and external genital anomalies whereas longer terminal deletions affecting the 10q26.12 and/or 10q26.13 regions may be responsible for renal/urinary tract anomalies. We propose that the haploinsufficiency of one or several genes located in the 10q26.12-q26.13 region may contribute to the renal or urinary tract pathogenesis and we highlight the importance of FGFR2 and probably of CTBP2 as candidate genes.


Assuntos
Deficiências da Aprendizagem/diagnóstico , Anormalidades Urogenitais/diagnóstico , Adolescente , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 10/genética , Hibridização Genômica Comparativa , Fácies , Feminino , Estudos de Associação Genética , Humanos , Deficiências da Aprendizagem/genética , Anormalidades Urogenitais/genética
10.
Nanotechnology ; 26(7): 075703, 2015 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-25627862

RESUMO

A broad interest has been showed recently on the study of nanostructuring of thin films and surfaces obtained by low-energy He plasma treatments and He incorporation via magnetron sputtering. In this paper spatially resolved electron energy-loss spectroscopy in a scanning transmission electron microscope is used to locate and characterize the He state in nanoporous amorphous silicon coatings deposited by magnetron sputtering. A dedicated MATLAB program was developed to quantify the helium density inside individual pores based on the energy position shift or peak intensity of the He K-edge. A good agreement was observed between the high density (∼35-60 at nm(-3)) and pressure (0.3-1.0 GPa) values obtained in nanoscale analysis and the values derived from macroscopic measurements (the composition obtained by proton backscattering spectroscopy coupled to the macroscopic porosity estimated from ellipsometry). This work provides new insights into these novel porous coatings, providing evidence of high-density He located inside the pores and validating the methodology applied here to characterize the formation of pores filled with the helium process gas during deposition. A similar stabilization of condensed He bubbles has been previously demonstrated by high-energy He ion implantation in metals and is newly demonstrated here using a widely employed methodology, magnetron sputtering, for achieving coatings with a high density of homogeneously distributed pores and He storage capacities as high as 21 at%.

11.
Nanoscale ; 6(19): 11090-7, 2014 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-25030706

RESUMO

The systematic construction of heterogeneous nanoparticles composed of two distinct metal domains (Au and Pt) and exhibiting a broad range of morphologically defined shapes is reported. It is demonstrated that careful Au overgrowth on Pt nanocrystal seeds with shapes mainly corresponding to cubeoctahedra, octahedra and octapods can lead to heterometallic systems whose intrinsic structures result from specific epitaxial relationships such as {111} + {111}, {200} + {200} and {220} + {220}. Comprehensive analysis shows also that nanoparticles grown from octahedral seeds can be seen as comprising of four Au tetrahedral subunits and one Pt octahedral unit in a cyclic arrangement that is similar to the corresponding one in decahedral gold nanoparticles. However, in the present case, the multi-component system is characterized by a broken five-fold rotational symmetry about the [011] axis. This set of bimetallic dimers could provide new platforms for fuel cell catalysts and plasmonic devices.

12.
Micron ; 67: 1-9, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24997304

RESUMO

Hybrid (organic shell-inorganic core) nanoparticles have important applications in nanomedicine. Although the inorganic components of hybrid nanoparticles can be characterized readily using conventional transmission electron microscopy (TEM) techniques, the structural and chemical arrangement of the organic molecular components remains largely unknown. Here, we apply TEM to the physico-chemical characterization of Au nanoparticles that are coated with plasma-polymerized-allylamine, an organic compound with the formula C3H5NH2. We discuss the use of energy-filtered TEM in the low-energy-loss range as a contrast enhancement mechanism for imaging the organic shells of such particles. We also study electron-beam-induced crystallization and amorphization of the shells and the formation of graphitic-like layers that contain both C and N. The resistance of the samples to irradiation by high-energy electrons, which is relevant for optical tuning and for understanding the degree to which such hybrid nanostructures are stable in the presence of biomedical radiation, is also discussed.


Assuntos
Nanopartículas Metálicas/ultraestrutura , Resinas Acrílicas/química , Resinas Acrílicas/efeitos da radiação , Cristalização , Ouro , Nanopartículas Metálicas/efeitos da radiação , Microscopia Eletrônica de Transmissão
13.
Acta Otorrinolaringol Esp ; 65(5): 297-301, 2014.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-24877988

RESUMO

OBJECTIVE: Our objective was to compare the results of probing with and without endoscopy in cases of congenital nasolacrimal duct obstruction without prior probing. METHODS: This was a retrospective analysis on 2 non-randomized cohorts, 36 simple soundings (group 1) and 36 soundings with endoscope (group 2), between January 2011 and January 2013. Both groups were similar in age and had no previous surgery. The age of the patients studied ranged between 8 and 27 months in the first group and between 7 and 30 months in the second group. RESULTS: The procedure was successful in 50% of the conventional probing group and in 97.22% in the endoscopy probing group. In this group 16.67% of patients with tight inferior turbinate and 11.11% of those where the probe passed into the submucosal space were diagnosed and corrected intraoperatively. Some anomaly was observed in 30.56% of patients undergoing endoscopy. CONCLUSION: Although nasal endoscopy is classically reserved for unsuccessful probing, its use in primary intention increases the success rate of the procedure. In our study, 97.22% of eyes had complete resolution of symptoms, avoiding a second surgery and the use of more expensive materials and techniques. Nasal endoscopy helps intraoperative visualisation, understanding and management of congenital nasolacrimal duct obstruction and is the only method that confirms the correct anatomic position of the catheterisation in real time.


Assuntos
Endoscopia , Obstrução dos Ductos Lacrimais/congênito , Obstrução dos Ductos Lacrimais/diagnóstico , Algoritmos , Pré-Escolar , Estudos de Coortes , Humanos , Lactente , Estudos Retrospectivos
14.
Genomics ; 103(4): 288-91, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24607569

RESUMO

Complex chromosome rearrangements (CCRs) are extremely rare in humans. About 20% of the apparently balanced CCRs have an abnormal phenotype and the degree of severity correlates with a higher number of breakpoints. Several studies using FISH and microarray technologies have shown that deletions in the breakpoints are common although duplications, insertions and inversions have also been detected. We report a patient with two simultaneous reciprocal translocations, t(3;4) and t(2;14;18), involving five chromosomes and six breakpoints. He showed dysmorphic features, preaxial polydactyly in the left hand, brachydactyly, postnatal growth retardation and developmental delay. The rearrangement was characterized by FISH analysis which detected an interstitial segment from chromosome 14 inserted in the derivative chromosome 2, and by whole genome array which revealed an interstitial deletion of approximately 4.5 Mb at the breakpoint site on chromosome 3. To our knowledge this microdeletion has not been previously reported and includes ~12 genes. The haploinsufficiency of one or several of these genes is likely to have contributed to the clinical phenotype of the patient.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 3 , Hibridização Genômica Comparativa/métodos , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 2 , Face/anormalidades , Humanos , Hibridização in Situ Fluorescente/métodos , Masculino , Polidactilia/genética , Translocação Genética
15.
Microsc Microanal ; 20(3): 982-90, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24641835

RESUMO

A tomographic heating holder for transmission electron microscopy that can be used to study supported catalysts at temperatures of up to ~1,500°C is described. The specimen is placed in direct thermal contact with a tungsten filament that is oriented perpendicular to the axis of the holder without using a support film, allowing tomographic image acquisition at high specimen tilt angles with minimum optical shadowing. We use the holder to illustrate the evolution of the active phases of Pt nanoparticles on carbon black and PtPd nanoparticles on γ-alumina with temperature. Particle size distributions and changes in active surface area are quantified from tilt series of images acquired after subjecting the specimens to increasing temperatures. The porosity of the alumina support and the sintering mechanisms of the catalysts are shown to depend on distance from the heating filament.

16.
Microsc Microanal ; 20(1): 14-24, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24444021

RESUMO

A combination of transmission electron microscopy techniques and spatially resolved microanalysis is used to investigate the nanostructure, constituting phases, and chemical elemental distribution in CrAlYN multilayered coatings. The location of the metallic elements and their chemical state are needed to understand their functional properties. Samples were prepared with variable Al (4-12 at%) and Y (2-5 at%) contents by direct current reactive magnetron sputtering on silicon substrates using metallic targets and Ar/N2 mixtures under different deposition parameters (power applied to the target and rotation speed of the sample holder). The changes produced in the nanostructure and chemical distribution were investigated. Nanoscale resolution electron microscopy analysis has shown that these coatings present a singular nanostructure formed by multilayers containing at a certain periodicity nanovoids filled with molecular nitrogen. Spatially resolved energy dispersive spectroscopy and electron energy loss elemental mappings and profiles showed that the chromium, aluminum, and yttrium atoms are distributed in a sequential way following the position of the targets inside the deposition chamber. Analysis of the different atomic distribution and phases formed at the nanoscale is discussed depending on the deposition parameters.

17.
Cytogenet Genome Res ; 144(4): 290-3, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25720458

RESUMO

Very few cases of constitutional interstitial deletions of the proximal short arm of chromosome 3 have been reported; however, the proximal 3p deletion is emerging as a clinically recognizable syndrome. We present an intrachromosomal insertion of 3p12.3p14.1 in a phenotypic normal man (46,XY,ins(3)(p25p12.3p14.1)) which is responsible for the unbalanced karyotype in 2 affected offspring, one with a 3p12.3p14.1 interstitial deletion and the other with a reciprocal duplication. The exceptionality of these 2 reciprocal recombinants contributes to a better definition of the proximal 3p deletion syndrome and its duplication counterpart.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 3/genética , Criança , Pré-Escolar , Duplicação Cromossômica , Feminino , Humanos , Hibridização in Situ Fluorescente , Mutagênese Insercional , Deleção de Sequência , Irmãos
18.
Am J Med Genet A ; 161A(9): 2363-8, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23894094

RESUMO

We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality.


Assuntos
Centrômero , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 21 , Trissomia/genética , Adolescente , Adulto , Aberrações Cromossômicas , Bandeamento Cromossômico , Cromossomos Humanos Par 18/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Gravidez , Diagnóstico Pré-Natal , Trissomia/diagnóstico
19.
Am J Med Genet A ; 161A(9): 2369-75, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23894102

RESUMO

San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. We report for the first time on a Moroccan girl with a recombinant chromosome 8 prenatally diagnosed as SLV Rec8 by conventional cytogenetic studies. At birth, an oligo array-CGH (105 K) defined the breakpoints and the size of the imbalanced segments, with a deletion of ≈ 2.27 Mb (8p23.2-pter) and a duplication of ≈ 41.93 Mb (8q22.3-qter); thus this recombinant chromosome 8 differed from that previously reported in SLV Rec8 syndrome. The phenotypic characteristics associated with this SLV Rec8 genotype overlap those commonly found in patients with 8q duplication reported in the literature. We review SLV Rec8 and other chromosome 8 aberrations and suggest that the overexpression of cardiogenic genes located at 8q may be the cause of the cardiac defects in this patient.


Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Duplicação Cromossômica , Inversão Cromossômica , Recombinação Genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Bandeamento Cromossômico , Cromossomos Humanos Par 8/genética , Hibridização Genômica Comparativa , Fácies , Feminino , Humanos , Hibridização in Situ Fluorescente , Fenótipo , Gravidez , Diagnóstico Pré-Natal
20.
Nanoscale ; 5(13): 5765-72, 2013 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-23463298

RESUMO

Cobalt nanoparticles were synthesised via the thermal decomposition of Co2(CO)8 and were coated in iron oxide using Fe(CO)5. While previous work focused on the subsequent thermal alloying of these nanoparticles, this study fully elucidates their composition and core@shell structure. State-of-the-art electron microscopy and statistical data processing enabled chemical mapping of individual particles through the acquisition of energy-filtered transmission electron microscopy (EFTEM) images and detailed electron energy loss spectroscopy (EELS) analysis. Multivariate statistical analysis (MSA) has been used to greatly improve the quality of elemental mapping data from core@shell nanoparticles. Results from a combination of spatially resolved microanalysis reveal the shell as Fe3O4 and show that the core is composed of oxidatively stable metallic Co. For the first time, a region of lower atom density between the particle core and shell has been observed and identified as a trapped carbon residue attributable to the organic capping agents present in the initial Co nanoparticle synthesis.


Assuntos
Cobalto/química , Compostos Férricos/química , Microscopia Eletrônica de Transmissão , Nanopartículas/química , Nanopartículas/ultraestrutura , Tamanho da Partícula
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