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1.
Mol Microbiol ; 120(3): 341-350, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37537859

RESUMO

Respiratory syncytial virus (RSV) is a virus that causes acute respiratory infections in neonates and older adults. To infect host cells, the attachment glycoprotein (G) interacts with a cell surface receptor. This interaction determines the specific cell types that are susceptible to infection. RSV possesses a type I fusion protein F. Type I fusion proteins are metastable when rearrangement of the prefusion F occurs; the fusion peptide is exposed transforming the protein into postfusion form. The transition between the prefusion form and its postfusion form facilitates the viral envelope and the host cell membrane to fuse, enabling the virus to enter the host cell. Understanding the entry mechanism employed by RSV is crucial for developing effective antiviral therapies. In this review, we will discuss the various types of viral fusion proteins and explore the potential entry mechanisms utilized by RSV. A deeper understanding of these mechanisms will provide valuable insights for the development of novel approaches to treat RSV infections.


Assuntos
Infecções por Vírus Respiratório Sincicial , Vírus Sincicial Respiratório Humano , Recém-Nascido , Humanos , Idoso , Anticorpos Neutralizantes , Vírus Sincicial Respiratório Humano/metabolismo , Proteínas Virais de Fusão/metabolismo
2.
Phys Rev Lett ; 132(8): 082501, 2024 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-38457706

RESUMO

The structure and decay of the most neutron-rich beryllium isotope, ^{16}Be, has been investigated following proton knockout from a high-energy ^{17}B beam. Two relatively narrow resonances were observed for the first time, with energies of 0.84(3) and 2.15(5) MeV above the two-neutron decay threshold and widths of 0.32(8) and 0.95(15) MeV, respectively. These were assigned to be the ground (J^{π}=0^{+}) and first excited (2^{+}) state, with E_{x}=1.31(6) MeV. The mass excess of ^{16}Be was thus deduced to be 56.93(13) MeV, some 0.5 MeV more bound than the only previous measurement. Both states were observed to decay by direct two-neutron emission. Calculations incorporating the evolution of the wave function during the decay as a genuine three-body process reproduced the principal characteristics of the neutron-neutron energy spectra for both levels, indicating that the ground state exhibits a strong spatially compact dineutron component, while the 2^{+} level presents a far more diffuse neutron-neutron distribution.

3.
J Environ Manage ; 345: 118765, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37604103

RESUMO

The aim of this work was to evaluate the feasibility of the use of different industrial and agricultural wastes as reactive materials in Permeable Reactive Barriers (PRB) for Acid Mine Drainage (AMD) remediation. Sugar foam (SF), paper mill sludge (PMS), drinking water sludge (DWS) and olive mill waste (OMW) were evaluated in terms of pH neutralization and metal removal from AMD. Laboratory batch tests and continuous pilot scale up-flow columns containing 82% of Volcanic Slag (VS), as porous fill material, and 18% w/w of one of the industrial and agricultural wastes previously indicated, were tested. From the batch tests it was observed that the reactive material presenting the best results were the SF and the PMS. The results obtained in all the PRB were accurately described by a pseudo-first order model, presenting coefficient of determination higher than 0.96 in all the cases. During the continuous operation of the PRB, the porosity and hydraulic retention time (HRT) of most of the up-flow columns strongly decreased due to chemical precipitation and biofilm growth. The SF presented a significant number of fine particles that were washed out by the liquid flow, generating an effluent with very high total suspended solid concentration. Despite SF was the material with the highest alkalinity potential, the reduction of the HRT limited its neutralization and metal removal capacity. PMS and DWS presented the best pollutant removal yields in the continuous operation of the PRB, ranging from 55 to 99% and 55-95% (except in the case of the Mn), respectively. These results allowed the metal removal from the AMD. Additionally, these wastes presented very good biological sulphate reduction. Based on these results, the use of PMS and DWS as reactive material in PRB would allow to simultaneously valorise the industrial waste, which is very interesting within the circular economy framework, and to remove metals from the AMD by means of a low-cost and environmentally sustainable procedure.


Assuntos
Poluentes Ambientais , Poluentes Químicos da Água , Esgotos , Metais , Mineração , Resíduos Industriais/análise , Ácidos , Poluentes Químicos da Água/análise , Concentração de Íons de Hidrogênio
4.
Clin Radiol ; 76(11): 864.e13-864.e23, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34420686

RESUMO

Thermal ablation is a minimally invasive technique that is growing in acceptance and popularity in the management of early lung cancers. Although curative resection remains the optimal treatment strategy for stage I pulmonary malignancies, percutaneous ablative treatments may also be considered for selected patients. These techniques can additionally be used in the treatment of oligometastatic disease. Thermal ablation of early lung tumours can be achieved using several different techniques. For example, microwave ablation (MWA) and radiofrequency ablation (RFA) utilise extreme heat, whereas cryoablation uses extremely cold temperatures to cause necrosis and ultimately cell death. Typically, post-ablation imaging studies are performed within the first 1-3 months with subsequent imaging performed at regular intervals to ensure treatment response and to evaluate for signs of recurrent disease. Surveillance imaging is usually undertaken with computed tomography (CT) and integrated positron-emission tomography (PET)/CT. Typical imaging findings are usually seen on CT and PET/CT following thermal ablation of lung tumours, and it is vital that radiologists are familiar with these appearances. In addition, radiologists should be aware of the imaging findings that indicate local recurrence following ablation. The objective of this review is to provide an overview of the expected post-treatment findings on CT and PET/CT following thermal ablation of early primary lung malignancies, as well as describing the imaging appearances of local recurrence.


Assuntos
Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Recidiva Local de Neoplasia/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Tomografia Computadorizada por Raios X/métodos , Ablação por Cateter , Humanos , Pulmão/diagnóstico por imagem , Resultado do Tratamento
5.
Br Poult Sci ; 62(3): 387-395, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33251830

RESUMO

1. The objective of this study was to evaluate specific sensory attributes of chicken meat from different production systems to evaluate the emotional responses related to information available on the packages, as well as to investigate consumers' perceptions regarding this information.2. The survey was conducted using the Temporal Dominance of Sensations analysis, which identified differences in taste and texture between samples belonging to the organic, conventional and natural systems.3. The specific emotional lexicon for chicken meat, defined by the consumers through the EmoSemio questionnaire, provided a list of positive emotions for packages that indicated some type of information about the rearing or feeding system.4. The qualitative data obtained using the Attitude Questionnaire demonstrated that packaging and labelling are not self-explanatory, posing more doubts for the consumer at the time of purchase. It was shown that packaging and labelling were extrinsic attributes that influenced the evaluation and acceptability of products. Besides that, consumers were interested in buying products that attest to animal welfare, provided that the price is attractive.5. Poultry companies can have a greater chance of making their products more attractive if they learn more about the attitude and expectations of the consumer in relation to the products, as well as the importance of the animal welfare attributes that are communicated.


Assuntos
Galinhas , Carne , Animais , Comportamento do Consumidor , Carne/análise , Percepção , Paladar
6.
Phys Rev Lett ; 124(13): 131101, 2020 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-32302173

RESUMO

Because of the high energies and long distances to the sources, astrophysical observations provide a unique opportunity to test possible signatures of Lorentz invariance violation (LIV). Superluminal LIV enables the decay of photons at high energy. The high altitude water Cherenkov (HAWC) observatory is among the most sensitive gamma-ray instruments currently operating above 10 TeV. HAWC finds evidence of 100 TeV photon emission from at least four astrophysical sources. These observations exclude, for the strongest of the limits set, the LIV energy scale to 2.2×10^{31} eV, over 1800 times the Planck energy and an improvement of 1 to 2 orders of magnitude over previous limits.

7.
Phys Rev Lett ; 124(2): 021102, 2020 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-32004015

RESUMO

We present the first catalog of gamma-ray sources emitting above 56 and 100 TeV with data from the High Altitude Water Cherenkov Observatory, a wide field-of-view observatory capable of detecting gamma rays up to a few hundred TeV. Nine sources are observed above 56 TeV, all of which are likely galactic in origin. Three sources continue emitting past 100 TeV, making this the highest-energy gamma-ray source catalog to date. We report the integral flux of each of these objects. We also report spectra for three highest-energy sources and discuss the possibility that they are PeVatrons.

8.
Ann Bot ; 123(4): 587-599, 2019 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-30357311

RESUMO

BACKGROUND AND AIMS: Vandenboschia speciosa is a highly vulnerable fern species, with a large genome (10.5 Gb). Haploid gametophytes and diploid sporophytes are perennial, can reproduce vegetatively, and certain populations are composed only of independent gametophytes. These features make this fern a good model: (1) for high-throughput analysis of satellite DNA (satDNA) to investigate possible evolutionary trends in satDNA sequence features; (2) to determine the relative contribution of satDNA and other repetitive DNAs to its large genome; and (3) to analyse whether the reproduction mode or phase alternation between long-lasting haploid and diploid stages influences satDNA abundance or divergence. METHODS: We analysed the repetitive fraction of the genome of this species in three different populations (one comprised only of independent gametophytes) using Illumina sequencing and bioinformatic analysis with RepeatExplorer and satMiner. KEY RESULTS: The satellitome of V. speciosa is composed of 11 satDNA families, most of them showing a short repeat length and being A + T rich. Some satDNAs had complex repeats composed of sub-repeats, showing high similarity to shorter satDNAs. Three families had particular structural features and highly conserved motifs. SatDNA only amounts to approx. 0.4 % of its genome. Likewise, microsatellites do not represent more than 2 %, but transposable elements (TEs) represent approx. 50 % of the sporophytic genomes. We found high resemblance in satDNA abundance and divergence between both gametophyte and sporophyte samples from the same population and between populations. CONCLUSIONS: (1) Longer (and older) satellites in V. speciosa have a higher A + T content and evolve from shorter ones and, in some cases, microsatellites were a source of new satDNAs; (2) the satellitome does not explain the huge genome size in this species while TEs are the major repetitive component of the V. speciosa genome and mostly contribute to its large genome; and (3) reproduction mode or phase alternation between gametophytes and sporophytes does not entail accumulation or divergence of satellites.


Assuntos
DNA de Plantas/análise , DNA Satélite/análise , Evolução Molecular , Gleiquênias/genética , Genoma de Planta , Células Germinativas Vegetais/fisiologia , Sequência de Bases , Diploide , Haploidia , Reprodução
9.
J Plant Res ; 132(1): 3-17, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30552526

RESUMO

We provide here the first full chloroplast genome sequence, i.e., the plastome, for a species belonging to the fern order Hymenophyllales. The phylogenetic position of this order within leptosporangiate ferns, together with the general scarcity of information about fern plastomes, places this research as a valuable study on the analysis of the diversity of plastomes throughout fern evolution. Gene content of V. speciosa plastome was similar to that in most ferns, although there were some characteristic gene losses and lineage-specific differences. In addition, an important number of genes required U to C RNA editing for proper protein translation and two genes showed start codons alternative to the canonical AUG (AUA). Concerning gene order, V. speciosa shared the specific 30-kb inversion of euphyllophytes plastomes and the 3.3-kb inversion of fern plastomes, keeping the ancestral gene order shared by eusporangiate and early leptosporangiate ferns. Conversely, V. speciosa has expanded IR regions comprising the rps7, rps12, ndhB and trnL genes in addition to rRNA and other tRNA genes, a condition shared with several eusporangiate ferns, lycophytes and hornworts, as well as most seed plants.


Assuntos
Evolução Molecular , Gleiquênias/genética , Genoma de Cloroplastos , Genoma de Planta , Filogenia , Análise de Sequência de DNA
10.
Phys Rev Lett ; 118(15): 152502, 2017 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-28452556

RESUMO

Angular distributions of the elastic, inelastic, and breakup cross sections of the halo nucleus ^{11}Be on ^{197}Au were measured at energies below (E_{lab}=31.9 MeV) and around (39.6 MeV) the Coulomb barrier. These three channels were unambiguously separated for the first time for reactions of ^{11}Be on a high-Z target at low energies. The experiment was performed at TRIUMF (Vancouver, Canada). The differential cross sections were compared with three different calculations: semiclassical, inert-core continuum-coupled-channels and continuum-coupled-channels ones with including core deformation. These results show conclusively that the elastic and inelastic differential cross sections can only be accounted for if core-excited admixtures are taken into account. The cross sections for these channels strongly depend on the B(E1) distribution in ^{11}Be, and the reaction mechanism is sensitive to the entanglement of core and halo degrees of freedom in ^{11}Be.

11.
Acta Neurol Scand ; 136(3): 254-264, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27935017

RESUMO

PURPOSE: Evaluate real-life experience with eslicarbazepine acetate (ESL) after first monotherapy failure in a large series of patients with focal epilepsy. METHOD: Multicentre, retrospective, 1-year, observational study in patients older than 18 years, with focal epilepsy, who had failed first antiepileptic drug monotherapy and who received ESL. Data from clinical records were analysed at baseline, 3, 6 and 12 months to assess effectiveness and tolerability. RESULTS: Eslicarbazepine acetate was initiated in 253 patients. The 1-year retention rate was 92.9%, and the final median dose of ESL was 800 mg. At 12 months, 62.3% of patients had been seizure free for 6 months; 37.3% had been seizure free for 1 year. During follow-up, 31.6% of the patients reported ESL-related adverse events (AEs), most commonly somnolence (8.7%) and dizziness (5.1%), and 3.6% discontinued due to AEs. Hyponatraemia was observed in seven patients (2.8%). After starting ESL, 137 patients (54.2%) withdrew the prior monotherapy and converted to ESL monotherapy; 75.9% were seizure free, 87.6% were responders, 4.4% worsened, and 23.4% reported ESL-related AEs. CONCLUSION: Use of ESL after first monotherapy failure was associated with an optimal seizure control and tolerability profile. Over half of patients were converted to ESL monotherapy during follow-up.


Assuntos
Anticonvulsivantes/efeitos adversos , Dibenzazepinas/efeitos adversos , Tontura/etiologia , Epilepsias Parciais/tratamento farmacológico , Hiponatremia/etiologia , Vertigem/etiologia , Adulto , Idoso , Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/uso terapêutico , Dibenzazepinas/administração & dosagem , Dibenzazepinas/uso terapêutico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
12.
Chromosoma ; 124(2): 263-75, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25472934

RESUMO

The desert locust (Schistocerca gregaria) has been used as material for numerous cytogenetic studies. Its genome size is estimated to be 8.55 Gb of DNA comprised in 11 autosomes and the X chromosome. Its X0/XX sex chromosome determinism therefore results in females having 24 chromosomes whereas males have 23. Surprisingly, little is known about the DNA content of this locust's huge chromosomes. Here, we use the Feulgen Image Analysis Densitometry and C-banding techniques to respectively estimate the DNA quantity and heterochromatin content of each chromosome. We also identify three satellite DNAs using both restriction endonucleases and next-generation sequencing. We then use fluorescent in situ hybridization to determine the chromosomal location of these satellite DNAs as well as that of six tandem repeat DNA gene families. The combination of the results obtained in this work allows distinguishing between the different chromosomes not only by size, but also by the kind of repetitive DNAs that they contain. The recent publication of the draft genome of the migratory locust (Locusta migratoria), the largest animal genome hitherto sequenced, invites for sequencing even larger genomes. S. gregaria is a pest that causes high economic losses. It is thus among the primary candidates for genome sequencing. But this species genome is about 50 % larger than that of L. migratoria, and although next-generation sequencing currently allows sequencing large genomes, sequencing it would mean a greater challenge. The chromosome sizes and markers provided here should not only help planning the sequencing project and guide the assembly but would also facilitate assigning assembled linkage groups to actual chromosomes.


Assuntos
Cromossomos/genética , Genoma de Inseto , Gafanhotos/genética , Sequências Repetitivas de Ácido Nucleico , Animais , Mapeamento Cromossômico , DNA Ribossômico/genética , DNA Satélite/genética , Feminino , Heterocromatina/genética , Heterocromatina/metabolismo , Sequenciamento de Nucleotídeos em Larga Escala , Histonas/genética , Hibridização in Situ Fluorescente , Masculino , Análise de Sequência de DNA
13.
Indoor Air ; 26(6): 892-902, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-26660492

RESUMO

Relationships between measured moisture and qualitative dampness indicators (mold odor, visible mold, visible water damage, or peeling paint) were evaluated using data collected from California homes in a prospective birth cohort study when the infants were 6 or 12 months of age (737 home visits). For repeated visits, agreement between observation of the presence/absence of each qualitative indicator at both visits was high (71-87%, P < 0.0001). Among individual indicators, musty odor and visible mold were most strongly correlated with elevated moisture readings. Measured moisture differed significantly between repeated visits in opposite seasons (P < 0.0001), and dampness increased with the number of indicators in a home. Linear mixed-effect models showed that 10-unit increases in maximum measured moisture were associated with the presence of 0.5 additional dampness indicators (P < 0.001). Bedroom (BR) walls were damper than living room (LR) walls in the same homes (P < 0.0001), although both average and maximum readings were positively correlated across room type (r = 0.75 and 0.67, respectively, both P < 0.0001). Exterior walls were significantly damper than interior walls (P < 0.0001 in both LRs and BRs), but no differences were observed between maximum wall readings and measurements at either window corners or sites of suspected dampness.


Assuntos
Poluição do Ar em Ambientes Fechados/análise , Asma/etiologia , Monitoramento Ambiental , Habitação , Umidade/efeitos adversos , California , Feminino , Humanos , Masculino , Estudos Prospectivos
14.
Neurocrit Care ; 25(3): 446-454, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27389005

RESUMO

BACKGROUND: Cerebral critical closing pressure (CrCP) is the level of arterial blood pressure (ABP) at which small brain vessels close and blood flow stops. This value is always greater than intracranial pressure (ICP). The difference between CrCP and ICP is explained by the tone of the small cerebral vessels (wall tension). CrCP value is used in several dynamic cerebral autoregulation models. However, the different methods for calculation of CrCP show frequent negative values. These findings are viewed as a methodological limitation. We intended to evaluate CrCP in patients with severe traumatic brain injury (TBI) with a new multiparameter impedance-based model and compare it with results found earlier using a transcranial Doppler (TCD)-ABP pulse waveform-based method. METHODS: Twelve severe TBI patients hospitalized during September 2005-May 2007. Ten men, mean age 32 years (16-61). Four had decompressive craniectomies (DC); three presented anisocoria. Patients were monitored with TCD cerebral blood flow velocity (FV), invasive ABP, and ICP. Data were acquired at 50 Hz with an in-house developed data acquisition system. We compared the earlier studied "first harmonic" method (M1) results with results from a new recently developed (M2) "multiparameter method." RESULTS: M1: In seven patients CrCP values were negative, reaching -150 mmHg. M2: All positive values; only one lower than ICP (ICP 60 mmHg/ CrCP 57 mmHg). There was a significant difference between M1 and M2 values (M1 < M2) and between ICP and M2 (M2 > ICP). CONCLUSION: M2 results in positive values of CrCP, higher than ICP, and are physiologically interpretable.


Assuntos
Pressão Arterial/fisiologia , Lesões Encefálicas Traumáticas/fisiopatologia , Circulação Cerebrovascular/fisiologia , Hemodinâmica/fisiologia , Pressão Intracraniana/fisiologia , Modelos Neurológicos , Monitorização Neurofisiológica/métodos , Ultrassonografia Doppler Transcraniana/métodos , Adolescente , Adulto , Lesões Encefálicas Traumáticas/cirurgia , Craniectomia Descompressiva , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
15.
Insect Mol Biol ; 24(3): 319-30, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25565136

RESUMO

We analyse intragenomic variation of the ITS2 internal transcribed spacer of ribosomal DNA (rDNA) in the grasshopper Eyprepocnemis plorans, by means of tagged PCR 454 amplicon sequencing performed on both genomic DNA (gDNA) and RNA-derived complementary DNA (cDNA), using part of the ITS2 flanking coding regions (5.8S and 28S rDNA) as an internal control for sequencing errors. Six different ITS2 haplotypes (i.e. variants for at least one nucleotide in the complete ITS2 sequence) were found in a single population, one of them (Hap4) being specific to a supernumerary (B) chromosome. The analysis of both gDNA and cDNA from the same individuals provided an estimate of the expression efficiency of the different haplotypes. We found random expression (i.e. about similar recovery in gDNA and cDNA) for three haplotypes (Hap1, Hap2 and Hap5), but significant underexpression for three others (Hap3, Hap4 and Hap6). Hap4 was the most extremely underexpressed and, remarkably, it showed the lowest sequence conservation for the flanking 5.8-28S coding regions in the gDNA reads but the highest conservation (100%) in the cDNA ones, suggesting the preferential expression of mutation-free rDNA units carrying this ITS2 haplotype. These results indicate that the ITS2 region of rDNA is far from complete homogenization in this species, and that the different rDNA units are not expressed at random, with some of them being severely downregulated.


Assuntos
DNA Ribossômico/metabolismo , Genoma de Inseto , Gafanhotos/metabolismo , Animais , Sequência de Bases , Sequência Conservada , DNA Ribossômico/genética , DNA Espaçador Ribossômico/genética , Variação Genética , Gafanhotos/genética , Haplótipos , Conformação de Ácido Nucleico
16.
Heredity (Edinb) ; 114(2): 207-19, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25248465

RESUMO

The spliceosome, constituted by a protein set associated with small nuclear RNA (snRNA), is responsible for mRNA maturation through intron removal. Among snRNA genes, U1 is generally a conserved repetitive sequence. To unveil the chromosomal/genomic dynamics of this multigene family in grasshoppers, we mapped U1 genes by fluorescence in situ hybridization in 70 species belonging to the families Proscopiidae, Pyrgomorphidae, Ommexechidae, Romaleidae and Acrididae. Evident clusters were observed in all species, indicating that, at least, some U1 repeats are tandemly arrayed. High conservation was observed in the first four families, with most species carrying a single U1 cluster, frequently located in the third or fourth longest autosome. By contrast, extensive variation was observed among Acrididae, from a single chromosome pair carrying U1 to all chromosome pairs carrying it, with occasional occurrence of two or more clusters in the same chromosome. DNA sequence analysis in Eyprepocnemis plorans (species carrying U1 clusters on seven different chromosome pairs) and Locusta migratoria (carrying U1 in a single chromosome pair) supported the coexistence of functional and pseudogenic lineages. One of these pseudogenic lineages was truncated in the same nucleotide position in both species, suggesting that it was present in a common ancestor to both species. At least in E. plorans, this U1 snDNA pseudogenic lineage was associated with 5S rDNA and short interspersed elements (SINE)-like mobile elements. Given that we conclude in grasshoppers that the U1 snDNA had evolved under the birth-and-death model and that its intragenomic spread might be related with mobile elements.


Assuntos
Genoma de Inseto , Gafanhotos/genética , Família Multigênica , Ribonucleoproteína Nuclear Pequena U1/genética , Animais , Evolução Biológica , Mapeamento Cromossômico , Cromossomos , Sequência Conservada , Feminino , Masculino , Dados de Sequência Molecular
17.
Am J Respir Crit Care Med ; 190(12): 1421-9, 2014 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-25379685

RESUMO

RATIONALE: There is a lack of knowledge regarding the epidemiology, clinical characterization, and survival in pediatric pulmonary hypertension. OBJECTIVES: To describe the epidemiology, outcomes, and risk factors for mortality in pediatric pulmonary hypertension in Spain. METHODS: We analyzed data from the Spanish Registry for Pediatric Pulmonary Hypertension. From January 2009 to June 2012, a total of 225 patients diagnosed with pulmonary hypertension in 1998 or after were collected from 21 referral and nonreferral centers. We included all Nice etiologies, estimated incidence and prevalence of pulmonary hypertension in the Spanish pediatric population, and analyzed risk factors for mortality (Nice etiologic group, clinical and hemodynamic variables). Patients were classified as follows: group I, pulmonary arterial hypertension (n = 142; 61%); group II, left heart disease (n = 31; 14%); group III, respiratory disease (n = 41; 18%); group IV, thromboembolic pulmonary hypertension (n = 2; 1%); or group V, mostly inherited metabolic diseases (n = 10; 4.5%). Of the patients studied, 31% had multifactorial pulmonary hypertension. MEASUREMENTS AND MAIN RESULTS: Mean age at diagnosis was 4.3 ± 4.9 years (50% < 2 yr). Survival rates at 1 and 3 years were 80 and 74% for the whole cohort, and 89 and 85% for patients with pulmonary arterial hypertension. Independent risk factors for mortality included an etiologic group other than pulmonary arterial hypertension (P < 0.001), age at diagnosis younger than 2 years old (P < 0.001), advanced functional class at diagnosis (P < 0.001), and high right atrial pressure at diagnosis (P = 0.002). CONCLUSIONS: In moderate to severe pediatric pulmonary hypertension, the prognosis is better in pulmonary arterial hypertension than in other Nice categories. In pediatric pulmonary hypertension age at diagnosis younger than 2 years is a risk factor for mortality, in addition to the previously established risk factors.


Assuntos
Hipertensão Pulmonar/epidemiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/mortalidade , Incidência , Lactente , Masculino , Prevalência , Sistema de Registros , Fatores de Risco , Índice de Gravidade de Doença , Espanha/epidemiologia
18.
Cytogenet Genome Res ; 142(1): 54-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24217371

RESUMO

We analyzed the distribution of 2 repetitive DNAs, i.e. ribosomal DNA (rDNA) and a satellite DNA (satDNA), on the B chromosomes found in 17 natural populations of the grasshopper Eyprepocnemis ploransplorans sampled around the western Mediterranean region, including the Iberian Peninsula, Balearic Islands, Sicily, and Tunisia. Based on the amount of these repetitive DNAs, 4 types of B variants were found: B1, showing an equal or higher amount of rDNA than satDNA, and 3 other variants, B2, B24 and B5, bearing a higher amount of satDNA than rDNA. The variants B1 and B2 varied in size among populations: B1 was about half the size of the X chromosome in Balearic Islands, but two-thirds of the X in Iberian populations at Alicante, Murcia and Albacete provinces. Likewise, B2 was about one-third the size of the X chromosome in populations from the Granada province but half the size of the X in the populations collected at Málaga province. The widespread geographical distribution of the B1 variant makes it the best candidate for being the ancestor B chromosome in the whole western Mediterranean region.


Assuntos
Evolução Biológica , Cromossomos de Insetos/ultraestrutura , Gafanhotos/genética , Animais , DNA Ribossômico/genética , DNA Satélite/genética , Evolução Molecular , Hibridização in Situ Fluorescente , Masculino , Região do Mediterrâneo , Filogeografia , Especificidade da Espécie
19.
Allergy ; 69(7): 936-42, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24816218

RESUMO

BACKGROUND: Skin testing-guided elimination diet has proved unsuccessful for adult eosinophilic oesophagitis (EoE), whereas empiric six-food elimination diet (SFED) achieves an efficacy of 70%. OBJECTIVE: To compare the efficacy of food-specific serum IgE-targeted elimination diet (sIgE-ED) and SFED. METHODS: Prospective study in adult patients with EoE. Food-specific serum IgE, skin prick test (SPT) and atopy patch test (APT) to foods included in SFED were performed. Those with ≥1 positive IgE test, defined by ≥0.1 kU/l, followed a 6-week sIgE-ED, whereas non-IgE-sensitized patients underwent a 6-week SFED. Responders to diet (<15 eos/HPF) underwent individual reintroduction of foods followed by histological assessment. RESULTS: Forty-three EoE patients were included (26 sIgE-ED and 17 SFED). Regarding sIgE-ED, the mean number of eliminated foods per patient was significantly lower than in SFED (3.81 vs 6; P < 0.001), being wheat (85%), nuts (73%) and cow's milk (61%) the most commonly foods withdrawn. No difference in histological response was observed between sIgE-ED and SFED (73% vs 53%, P = 0.17). Causative foods identified by food challenge were cow's milk (64%), wheat (28%), egg (21%) and legumes (7%), with a single food trigger in 71% of patients. sIgE exhibited the higher accuracy to predict offending foods in IgE-sensitized patients (sensitivity 87.5%, specificity 68% (κ = 0.43)), with k values of 1 for cow's milk. APT results were all negative. CONCLUSIONS: Histological remission was accomplished in 73% of patients undergoing sIgE-ED, which was nonsignificantly superior to SFED. sIgE effectively identified cow's milk as a food trigger in IgE-sensitized patients.


Assuntos
Dietoterapia/métodos , Esofagite Eosinofílica/prevenção & controle , Adulto , Feminino , Hipersensibilidade Alimentar/complicações , Hipersensibilidade Alimentar/prevenção & controle , Humanos , Imunoglobulina E , Masculino , Testes Cutâneos
20.
Heredity (Edinb) ; 112(5): 531-42, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24346496

RESUMO

Wide arrays of repetitive DNA sequences form an important part of eukaryotic genomes. These repeats appear to evolve as coherent families, where repeats within a family are more similar to each other than to other orthologous representatives in related species. The continuous homogenization of repeats, through selective and non-selective processes, is termed concerted evolution. Ascertaining the level of variation between repeats is crucial to determining which evolutionary model best explains the homogenization observed for these sequences. Here, for the grasshopper Eyprepocnemis plorans, we present the analysis of intragenomic diversity for two repetitive DNA sequences (a satellite DNA (satDNA) and the 45S rDNA) resulting from the independent microdissection of several chromosomes. Our results show different homogenization patterns for these two kinds of paralogous DNA sequences, with a high between-chromosome structure for rDNA but no structure at all for the satDNA. This difference is puzzling, considering the adjacent localization of the two repetitive DNAs on paracentromeric regions in most chromosomes. The disparate homogenization patterns detected for these two repetitive DNA sequences suggest that several processes participate in the concerted evolution in E. plorans, and that these mechanisms might not work as genome-wide processes but rather as sequence-specific ones.


Assuntos
DNA Ribossômico/genética , DNA Satélite/genética , Evolução Molecular , Genoma/genética , Gafanhotos/genética , Sequências Repetitivas de Ácido Nucleico/genética , Animais , Composição de Bases/genética , Sequência de Bases , DNA Ribossômico/química , DNA Ribossômico/classificação , DNA Espaçador Ribossômico/química , DNA Espaçador Ribossômico/genética , DNA Satélite/química , DNA Satélite/classificação , Feminino , Variação Genética , Haplótipos , Masculino , Dados de Sequência Molecular , Conformação de Ácido Nucleico , Filogenia , RNA Ribossômico 5,8S/genética , Análise de Sequência de DNA , Homologia de Sequência do Ácido Nucleico
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