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A study targeting novel antifungal metabolites identified potent in vitro antifungal activity against key plant pathogens in acetone extracts of Streptomyces sp. strain CA-296093. Feature-based molecular networking revealed the presence in this extract of antimycin-related compounds, leading to the isolation of four new compounds: escuzarmycins A-D (1-4). Extensive structural elucidation, employing 1D and 2D NMR, high-resolution mass spectrometry, Marfey's analysis, and NOESY correlations, confirmed their structures. The bioactivity of these compounds was tested against six fungal phytopathogens, and compounds 3 and 4 demonstrated strong efficacy, particularly against Zymoseptoria tritici, with compound 3 exhibiting the highest potency (EC50: 11 nM). Both compounds also displayed significant antifungal activity against Botrytis cinerea and Colletotrichum acutatum, with compound 4 proving to be the most potent. Despite moderate cytotoxicity against the human cancer cell line HepG2, compounds 3 and 4 emerge as promising fungicides for combating Septoria tritici blotch, anthracnose, and gray mold.
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Ascomicetos , Colletotrichum , Fungicidas Industriais , Doenças das Plantas , Streptomyces , Fungicidas Industriais/farmacologia , Fungicidas Industriais/química , Doenças das Plantas/microbiologia , Doenças das Plantas/prevenção & controle , Ascomicetos/efeitos dos fármacos , Ascomicetos/química , Streptomyces/química , Streptomyces/metabolismo , Humanos , Colletotrichum/efeitos dos fármacos , Botrytis/efeitos dos fármacos , Estrutura MolecularRESUMO
Nuclear fusion is a potential source of energy that could supply the growing needs of the world population for millions of years. Several experimental thermonuclear fusion devices try to understand and control the nuclear fusion process. A very interesting diagnostic called Thomson scattering (TS) is performed in the Spanish fusion device TJ-II. This diagnostic takes images to measure the temperature and density profiles of the plasma, which is heated to very high temperatures to produce fusion plasma. Each image captures spectra of laser light scattered by the plasma under different conditions. Unfortunately, some images are corrupted by noise called stray light that affects the measurement of the profiles. In this work, we propose the use of deep learning models to reduce the stray light that appears in the diagnostic. The proposed approach utilizes a Pix2Pix neural network, which is an image-to-image translation based on a generative adversarial network (GAN). This network learns to translateimages affected by stray light to images without stray light. This allows for the effective removal of the noise that affects the measurements of the TS diagnostic, avoiding the need for manual image processing adjustments. The proposed method shows a better performance, reducing the noise up to 98% inimages, which surpassesprevious works that obtained 85% for the validation dataset.
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Genome analysis of strain Streptomyces sp. CA-278952 revealed a biosynthetic gene cluster encoding a putative lipopeptide with a sequence containing an Asp-Gly-Glu-Ala motif. We envisioned that this motif could mimic the canonical Asp-X-Asp-Gly sequence found in previously reported calcium-dependent lipopeptide antibiotics. Chemical investigation of the producing strain led to the discovery of three novel lipodepsipeptides, dilarmycins A-C. The calcium-dependent antibacterial activity of the new compounds was confirmed against the Gram-positive pathogens methicillin-resistant Staphylococcus aureus and vancomycin-resistant Enterococcus.
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Antibacterianos , Staphylococcus aureus Resistente à Meticilina , Antibacterianos/farmacologia , Antibacterianos/química , Cálcio , Lipopeptídeos/farmacologia , Testes de Sensibilidade MicrobianaRESUMO
In a survey to evaluate the potential of lichens associated with gypsum areas as sources of new antifungal metabolites, six species of lichens were collected in the gypsum outcrops of the Sorbas Desert (Diploschistes ocellatus and Seirophora lacunosa) and the Tabernas Desert (Cladonia foliacea, Acarospora placodiformis, Squamarina lentigera and Xanthoparmelia pokornyi) in southern Spain. Raw lichen acetone extracts were tested against a panel of seven phytopathogenic fungi, including Botrytis cinerea, Colletotrichum acutatum, Fusarium oxysporum f.sp cubense TR4, Fusarium ploriferaum, Magnaporthe grisea, Verticillium dahliae and Zymoseptoria tritici. Active extracts of Cladonia foliacea, Xanthoparmelia pokornyi and Squamarina lentigera were analyzed by HPLC-MS/MS and Molecular Networking to identify possible metabolites responsible for the antifungal activity. A total of ten depside-like metabolites were identified by MS/MS dereplication and NMR experiments, of which one was a new derivative of fumaroprotocetraric acid. The compounds without previously described biological activity were purified and tested against the panel of fungal phytopathogens. Herein, the antifungal activity against fungal phytopathogens of 4'-O-methylpaludosic acid, divaricatic acid and stenosporic acid is reported for the first time. Stenosporic and divaricatic acids displayed a broad antifungal spectrum against seven relevant fungal phytopathogens in a micromolar range, including the extremely resistant fungus F. oxysporum f. sp. cubense Tropical Race 4 (TR4). 4'-O-methylpaludosic acid exhibited specific antifungal activity against the wheat pathogen Z. tritici, with an IC50 of 38.87 µg/mL (87.1 µM) in the absorbance-based assay and 24.88 µg/mL (55.52 µM) in the fluorescence-based assay.
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BACKGROUND: Plants from the Asteraceae family were commonly used to treat various diseases. The metabolomic profile of this family consisted of bioactive flavonoids and other phenolics. Chamomile is a member of the Asteraceae family. Jordanian and European chamomile are two varieties of Matricaria chamomilla (German chamomile), which were grown under different environmental conditions, were studied. Many examples of plant varieties with significant distinction in the secondary metabolite they afford have been described in the literature. Multivariate statistical analysis was employed to measure the depth of this variation in two chamomile varieties. METHODS: From both types, crude extracts were prepared using solvents of different polarities and tested for their biological activity. The semipolar fraction of the European variety showed anticancer and antioxidant activity. Meanwhile, the semipolar fraction of the Jordanian type exhibited only antioxidant activity. Both extracts were fractionated, and then the biological activity was again assayed. RESULTS: European and Jordanian chamomile fractions produced dicaffeoylquinic acid isomers exhibiting antioxidant capability. Additionally, Z-glucoferulic acid was produced from the European chamomile, demonstrating antioxidant activity. The European samples afforded two major compounds, chrysosplenetin and apigenin, that displayed anticancer activity. CONCLUSIONS: Different environmental conditions between Jordanian and European chamomile affected the type of isolated compounds. Structure elucidation was performed with HPLC-MS coupled with dereplication techniques and 2D NMR experiments.
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The presence and persistence of pesticides in the environment are environmental problems of great concern due to the health implications for humans and wildlife. The persistence of DDT-DDE in a Mediterranean coastal plain where pesticides were widely used and were banned decades ago is the aim of this study. Different sources of analytical information from water and soil analysis and topography and geographical variables were combined with the purpose of analyzing which environmental factors are more likely to condition the spatial distribution of DDT-DDE in the drainage watercourses of the area. An approach combining machine learning techniques, such as Random Forest and Mutual Information (MI), for classifying DDT-DDE concentration levels based on other environmental predictive variables was applied. In addition, classification procedure was iteratively performed with different training/validation partitions in order to extract the most informative parameters denoted by the highest MI scores and larger accuracy assessment metrics. Distance to drain canals, soil electrical conductivity, and soil sand texture fraction were the most informative environmental variables for predicting DDT-DDE water concentration clusters.
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DDT , Praguicidas , Humanos , DDT/análise , Praguicidas/análise , Agricultura , Solo , Água/análise , Monitoramento AmbientalRESUMO
Current needs in finding new antibiotics against emerging multidrug-resistant superbugs are pushing the scientific community into coming back to Nature for the discovery of novel active structures. Recently, a survey of halophilic actinomyectes from saline substrates of El Saladar del Margen, in the Cúllar-Baza depression (Granada, Spain), led us to the isolation and identification of 108 strains from the rhizosphere of the endemic plant Limonium majus. Evaluation of the potential of these strains to produce new anti-infective agents against superbug pathogens was performed through fermentation in 10 different culture media using an OSMAC approach and assessment of the antibacterial and antifungal properties of their acetone extracts. The study allowed the isolation of two novel antibiotic compounds, kribbellichelin A (1) and B (2), along with the known metabolites sandramycin (3), coproporphyrin III (4), and kribelloside C (5) from a bioassay-guided fractionation of scaled-up active extracts of the Kribbella sp. CA-293567 strain. The structures of the new molecules were elucidated by ESI-qTOF-MS/MS, 1D and 2D NMR, and Marfey's analysis for the determination of the absolute configuration of their amino acid residues. Compounds 1-3 and 5 were assayed against a panel of relevant antibiotic-resistant pathogenic strains and evaluated for cytotoxicity versus the human hepatoma cell line HepG2 (ATCC HB-8065). Kribbellichelins A (1) and B (2) showed antimicrobial activity versus Candida albicans ATCC-64124, weak potency against Acinetobacter baumannii MB-5973 and Pseudomonas aeruginosa MB-5919, and an atypical dose-dependent concentration profile against Aspergillus fumigatus ATCC-46645. Sandramycin (3) confirmed previously reported excellent growth inhibition activity against MRSA MB-5393 but also presented clear antifungal activity against C. albicans ATCC-64124 and A. fumigatus ATCC-46645 associated with lower cytotoxicity observed in HepG2, whereas Kribelloside C (5) displayed high antifungal activity only against A. fumigatus ATCC-46645. Herein, we describe the processes followed for the isolation, structure elucidation, and potency evaluation of these two new active compounds against a panel of human pathogens as well as, for the first time, the characterization of the antifungal activities of sandramycin (3).
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Actinomycetales , Anti-Infecciosos , Acetona , Aminoácidos , Antibacterianos/química , Anti-Infecciosos/farmacologia , Antifúngicos/química , Candida albicans , Meios de Cultura , Humanos , Testes de Sensibilidade Microbiana , Espectrometria de Massas em TandemRESUMO
The University Miguel Hernández of Elche was created in 1996 and its headquarters is located in the city of Elche. A new campus was developed where new buildings and infrastructures have been established for over 25 years in the north of the city. The university is growing, and the land cover/land use is changing, adapted to the new infrastructures. In fact, the landscape changed from a periurban agricultural area mixed with other activities into an urbanized area integrated into the city. The purpose of this work was to evaluate the progressive sealing of the soil and the consequences on the surface hydrology. The area is close to the Palmeral of Elche, a landscape of date palm groves with an ancient irrigation system, which is a World Heritage Cultural Landscape recognized by UNESCO. The evolution of the land occupation was analyzed based on the Aerial National Orthophotography Plan (PNOA). Soil sealing and the modifications of the hydrological ancient irrigation system were detected. Based on the results, proposals for improvement are made in order to implement green infrastructures and landscape recovery that can alleviate the possible negative effects of the soil sealing in the area occupied by the university.
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Hidrologia , Solo , Agricultura , Humanos , Espanha , UniversidadesRESUMO
A novel cyclic antimalarial and antitrypanosome hexapeptide, pipecolisporin (1), was isolated from cultures of Nigrospora oryzae CF-298113, a fungal endophyte isolated from roots of Triticum sp. collected in a traditional agricultural land of Montefrío, Granada, Spain. The structure of this compound, including its absolute configuration, was elucidated by HRMS, 1-D and 2-D NMR spectroscopy, and Marfey's analysis. This metabolite displayed interesting activity against Plasmodium falciparum and Trypanosoma cruzi, with IC50 values in the micromolar range, and no significant cytotoxicity against the human cancer cell lines A549, A2058, MCF7, MIA PaCa-2, and HepG2.
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INTRODUCTION: L-Dopa, a key neurotransmitter used to treat neural disorders such as Parkinson's disease, is found in the seeds of the genus Mucuna at a sufficient concentration for possible commercial use. OBJECTIVE: To develop a simple and reliable method to extract L-Dopa from M. pruriens seeds in an aqueous medium and then quantitate this compound using a 1 H qNMR method (internal standard); and also to evaluate the accuracy and reproducibility of this method with an NMR calibration curve. METHODOLOGY: The extraction method of L-Dopa from M. pruriens was optimized. The quantitation with single point quantitative NMR (qNMR) and NMR calibration curve was based on the resonance properties of the main functional groups of the L-Dopa molecule, in particular the signals of the three aromatic protons, which were compared with the signal of an internal standard such as syringic acid. The accuracy (precision and trueness) and reproducibility of both NMR techniques were evaluated. RESULTS: The methods of single point qNMR and NMR calibration curve, applied to the seeds of two M. pruriens varieties, gave very similar L-Dopa contents: 3.0-3.2% and 3.0-3.1%, respectively. CONCLUSION: The statistical analysis confirmed the accuracy and reproducibility of this single point qNMR method (internal standard) for determining L-Dopa, as well as other commercial preparations of this species, without performing an NMR calibration curve.
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Levodopa/análise , Mucuna/embriologia , Espectroscopia de Prótons por Ressonância Magnética/métodos , Sementes/química , Ácido Gálico/análogos & derivados , Ácido Gálico/química , Ácido Gálico/normas , Levodopa/isolamento & purificação , Mucuna/classificação , Padrões de Referência , Especificidade da Espécie , ÁguaRESUMO
Several lipophilic ω-hydroxyalkylcarbonate hydroxytyrosol derivatives and also their corresponding dimeric derivatives have been synthesized, coupling the primary hydroxy group of this phenolic compound with several terminal diols of different chain lengths, by the use of a carbonate linker. The trypanocidal activity and cytotoxicity of these ω-hydroxyalkylcarbonate derivatives of hydroxytyrosol and known alkylcarbonate derivatives of hydroxytyrosol were assessed. Three of the hydroxytyrosol alkylcarbonate derivatives were active against Trypanosoma brucei: two with an alkyl chain of average size (0.2 and 0.5 µM) and another with a double bond in the alkyl chain (0.4 µM). These values suggest an increase in activity with respect to hydroxytyrosol (264-, 90-, and 116-fold, respectively). Furthermore, these compounds showed high selectivity indices against MRC-5, a nontumor human cell line (62, 71, and 39, respectively). Some other ω-hydroxyalkylcarbonate and alkylcarbonate derivatives of hydroxytyrosol were also active against T. brucei within a low micromolar range (about 1 µM).
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Álcool Feniletílico/análogos & derivados , Tripanossomicidas/síntese química , Linhagem Celular , Humanos , Espectroscopia de Ressonância Magnética , Álcool Feniletílico/síntese química , Álcool Feniletílico/química , Álcool Feniletílico/farmacologia , Relação Estrutura-Atividade , Trypanosoma brucei brucei/efeitos dos fármacosRESUMO
Multiple epiphyseal dysplasias (MED) are a group of heterogeneous skeletal dysplasias, which share a common phenotype: short stature, skeletal deformities, joint pain and early onset osteoarthritis. Mutations in COMP account for approximately half of autosomal dominant MED cases whilst SLC26A2 mutations account for â¼25% of the recessive cases in the Caucasian population. We present here an interesting family, which was thought to initially have an autosomal dominant skeletal dysplasia. Using a targeted sequencing skeletal dysplasia panel, the proband was found to be a compound heterozygote for two mutations in SLC26A2, one novel mutation, p.Ser522Phe and the other, the common mutation, p.Arg279Trp. In addition to the classical characteristics of MED, she presented with an atypical feature, bilateral synostoses between the 2nd and 3rd metatarsals. The parents were confirmed to be heterozygous for the two mutations but interestingly, the maternal grandfather, who had MED, was found to be homozygous for the common SLC26A2 mutation.
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Proteínas de Transporte de Ânions/genética , Mutação de Sentido Incorreto , Osteocondrodisplasias/genética , Adolescente , Adulto , Feminino , Heterozigoto , Humanos , Masculino , Osteocondrodisplasias/patologia , Linhagem , Transportadores de SulfatoRESUMO
Microwave-assisted extraction is compared with a more classical technique, Soxhlet extraction, to determine the content of triterpene acids in olive skins. The samples used in their original unmilled state and milled were extracted with ethyl acetate or methanol as solvents. The optimized operating conditions (e.g., amount and type of solvent, and time and temperature of extractions) to attain the better extraction yields have been established. For the identification and quantitation of the target compounds, an ultra high performance liquid chromatography with tandem mass spectrometry method was employed. The best results were achieved using the microwave-assisted extraction technique, which was much faster than the Soxhlet extraction method, and showed higher efficiency in the extraction of the triterpenic acids (oleanolic and maslinic).
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Olea/química , Triterpenos/isolamento & purificação , Cromatografia Líquida de Alta Pressão , Frutas/química , Micro-Ondas , Espectrometria de Massas em TandemRESUMO
Conventional wastewater treatment generates large amounts of organic matter-rich sludge that requires adequate treatment to avoid public health and environmental problems. The mixture of wastewater sludge and some bulking agents produces a biosolid to be composted at adequate composting facilities. The composting process is chemically and microbiologically complex and requires an adequate aeration of the biosolid (e.g., with a turner machine) for proper maturation of the compost. Adequate (near) real-time monitoring of the compost maturity process is highly difficult and the operation of composting facilities is not as automatized as other industrial processes. Spectroscopic analysis of compost samples has been successfully employed for compost maturity assessment but the preparation of the solid compost samples is difficult and time-consuming. This manuscript presents a methodology based on a combination of a less time-consuming compost sample preparation and ultraviolet, visible and short-wave near-infrared spectroscopy. Spectroscopic measurements were performed with liquid compost extract instead of solid compost samples. Partial least square (PLS) models were developed to quantify chemical fractions commonly employed for compost maturity assessment. Effective regression models were obtained for total organic matter (residual predictive deviation-RPD = 2.68), humification ratio (RPD = 2.23), total exchangeable carbon (RPD = 2.07) and total organic carbon (RPD = 1.66) with a modular and cost-effective visible and near infrared (VNIR) spectroradiometer. This combination of a less time-consuming compost sample preparation with a versatile sensor system provides an easy-to-implement, efficient and cost-effective protocol for compost maturity assessment and near-real-time monitoring.
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Compostagem/métodos , Espectroscopia de Luz Próxima ao Infravermelho/métodos , Raios Ultravioleta , Esgotos/microbiologiaRESUMO
Three procedures have been investigated for the isolation of tyrosol (1) and hydroxytyrosol (2) from a phenolic extract obtained from the solid residue of olive milling. These three methods, which facilitated the recovery of these phenols, were chemical or enzymatic acetylation, benzylation, and carbomethoxylation, and subsequent carbonylation or acetonation reactions. Several new lipophilic alkyl-carbonate derivatives of hydroxytyrosol have been synthesized, coupling the primary hydroxy group of this phenol, through a carbonate linker, using alcohols with different chain lengths. The antioxidant properties of these lipophilic derivatives have been evaluated by different methods and compared with free hydroxytyrosol (2) and also with the well-known antioxidants BHT and α-tocopherol. Three methods were used for the determination of this antioxidant activity: FRAP and ABTS assays, to test the antioxidant power in hydrophilic media, and the Rancimat test, to evaluate the antioxidant capacity in a lipophilic matrix. These new alkyl-carbonate derivatives of hydroxytyrosol enhanced the antioxidant activity of this natural phenol, with their antioxidant properties also being higher than those of the commercial antioxidants BHT and α-tocopherol. There was no clear influence of the side-chain length on the antioxidant properties of the alkyl-carbonate derivatives of 2, although the best results were achieved mainly by the compounds with a longer chain on the primary hydroxy group of this natural phenolic substance.
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Antioxidantes/síntese química , Carbonatos/síntese química , Carbonatos/farmacologia , Olea/química , Álcool Feniletílico/análogos & derivados , Antioxidantes/química , Antioxidantes/farmacologia , Carbonatos/química , Estrutura Molecular , Oxirredução , Fenóis/química , Álcool Feniletílico/síntese química , Álcool Feniletílico/química , Álcool Feniletílico/isolamento & purificação , Álcool Feniletílico/farmacologia , alfa-Tocoferol/farmacologiaRESUMO
AIMS: The purpose of the current study is to analyze the labor trajectory, grade of disability and degree of dependence ecognized in a group of people with acquired brain injury with difference types and severity of injuries and with memory deficit as the main cognitive sequel, over a period of two years after the injury and to explore which premorbid clinical and demographic variables related to the brain injury are predictors of the return to work. PATIENTS AND METHODS: 129 subjects (aged 18-80 years), who were attended by the Neuropsychology and Neuropsychiatry Department of Navarra's Hospital. Qualitative variables were compared using the Chi square test and means were compared using Student t test and to determine the correlation between continuing variables we used Pearson's correlation coefficient. RESULTS: 17.7% returned to work one year after and 25% two years after. The return to work was related to high levels of education. Disability was recognized by 85% of applicants, to psychological factors or physical and psychological in 89% of them. In 77% of applicants was recognized the level of dependence. CONCLUSIONS: Results confirm the big impact of acquired brain injury on the career path two years later, in their interaction with their environment and in their level of independence. One of the factors that explain this impact is the memory deficits.
TITLE: Trayectoria laboral, discapacidad y dependencia tras daño cerebral adquirido: estudio prospectivo en los dos años siguientes a la lesion cerebral.Objetivos. Analizar la trayectoria laboral, el grado de discapacidad y el grado de dependencia reconocidos en una muestra de sujetos con daño cerebral adquirido de diferentes etiologias y que presentan deficit de memoria como secuela cognitiva principal, durante un periodo de dos años tras la lesion original, y examinar que variables sociodemograficas, datos clinicos premorbidos y relacionados con la lesion cerebral predicen el exito en la incorporacion laboral. Pacientes y metodos. Muestra de 129 pacientes, de 18 a 80 años, atendidos en el Servicio de Neuropsicologia y Neuropsiquiatria del Complejo Hospitalario de Navarra, con deficits de memoria objetivados con tests psicometricos. Las diferencias entre variables discretas se analizaron con el test de chi al cuadrado, para analizar las existentes entre dos grupos en cuanto a variables cuantitativas, se utilizo el test t de Stutent y para calcular la correlacion entre variables continuas, el coeficiente de correlacion de Pearson. Resultados. El 17,7% retoma la actividad laboral al año y el 25% a los dos años. Lo anterior se relaciono con un mayor nivel educativo. Se reconocio la discapacidad al 85% de los solicitantes, por factores psiquicos o fisicos y psiquicos en el 89% de los mismos. Al 77% de los solicitantes se le reconocio el nivel de dependencia. Conclusiones. El daño cerebral adquirido genera un fuerte impacto en la trayectoria laboral, la interaccion con el ambiente y el nivel de autonomia. Entre los factores que explican este impacto es reseñable el deficit de memoria.
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Atividades Cotidianas , Lesões Encefálicas/reabilitação , Ocupações/estatística & dados numéricos , Reabilitação do Acidente Vascular Cerebral , Sobreviventes , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Dano Encefálico Crônico/epidemiologia , Dano Encefálico Crônico/etiologia , Dano Encefálico Crônico/reabilitação , Lesões Encefálicas/classificação , Lesões Encefálicas/epidemiologia , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/etiologia , Avaliação da Deficiência , Feminino , Humanos , Masculino , Transtornos da Memória/epidemiologia , Transtornos da Memória/etiologia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Papel Profissional , Estudos Prospectivos , Psicometria , Recuperação de Função Fisiológica , Aposentadoria , Fatores Socioeconômicos , Espanha/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Sobreviventes/psicologia , Sobreviventes/estatística & dados numéricos , Desemprego , Adulto JovemRESUMO
Objetivos. Analizar la trayectoria laboral, el grado de discapacidad y el grado de dependencia reconocidos en una muestra de sujetos con daño cerebral adquirido de diferentes etiologías y que presentan déficit de memoria como secuela cognitiva principal, durante un período de dos años tras la lesión original, y examinar qué variables sociodemográficas, datos clínicos premórbidos y relacionados con la lesión cerebral predicen el éxito en la incorporación laboral. Pacientes y métodos. Muestra de 129 pacientes, de 18 a 80 años, atendidos en el Servicio de Neuropsicología y Neuropsiquiatría del Complejo Hospitalario de Navarra, con déficits de memoria objetivados con tests psicométricos. Las diferencias entre variables discretas se analizaron con el test de chi al cuadrado, para analizar las existentes entre dos grupos en cuanto a variables cuantitativas, se utilizó el test t de Stutent y para calcular la correlación entre variables continuas, el coeficiente de correlación de Pearson. Resultados. El 17,7% retoma la actividad laboral al año y el 25% a los dos años. Lo anterior se relacionó con un mayor nivel educativo. Se reconoció la discapacidad al 85% de los solicitantes, por factores psíquicos o físicos y psíquicos en el 89% de los mismos. Al 77% de los solicitantes se le reconoció el nivel de dependencia. Conclusiones. El daño cerebral adquirido genera un fuerte impacto en la trayectoria laboral, la interacción con el ambiente y el nivel de autonomía. Entre los factores que explican este impacto es reseñable el déficit de memoria (AU)
Aims. The purpose of the current study is to analyze the labor trajectory, grade of disability and degree of dependence recognized in a group of people with acquired brain injury with difference types and severity of injuries and with memory deficit as the main cognitive sequel, over a period of two years after the injury and to explore which premorbid clinical and demographic variables related to the brain injury are predictors of the return to work. Patients and methods.129 subjects (aged 18-80 years), who were attended by the Neuropsychology and Neuropsychiatry Department of Navarras Hospital. Qualitative variables were compared using the Chi square test and means were compared using Student t test and to determine the correlation between continuing variables we used Pearsons correlation coefficient. Results. 17.7% returned to work one year after and 25% two years after. The return to work was related to high levels of education. Disability was recognized by 85% of applicants, to psychological factors or physical and psychological in 89% of them. In 77% of applicants was recognized the level of dependence. Conclusions. Results confirm the big impact of acquired brain injury on the career path two years later, in their interaction with their environment and in their level of independence. One of the factors that explain this impact is the memory deficits (AU)
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Humanos , Lesões Encefálicas Traumáticas/epidemiologia , Retorno ao Trabalho/estatística & dados numéricos , Autonomia Pessoal , Estatísticas de Sequelas e Incapacidade , Pacientes Domiciliares/estatística & dados numéricos , Fatores de RiscoRESUMO
INTRODUCTION AND AIMS: The dysexecutive questionnaire (DEX) has been used to study executive deficits in both clinical samples (both psychiatric and neurological) and non-clinical samples, although agreement on its factorial structure is lacking. The aim of this research is to study that structure in the self-administered version in a sample of the Spanish population with acquired brain injury and memory loss complaints, and to compare that solution with those obtained in other studies. PATIENTS AND METHODS: The questionnaire was administered to 119 subjects with acquired brain injury with different aetiologies (traumatic, vascular, tumours, multiple sclerosis, toxic-metabolic and others). RESULTS: The Cronbach's alpha coefficient was 0.88. All the items showed adequate discriminatory power, except item 15. No relation was found between the total score on the DEX and the age, gender and time elapsed since the injury. A negative correlation between total score and level of schooling was confirmed. The total score does not follow a normal distribution. The five-factor solution accounts for a higher percentage of the total variance than those of two, three and four factors (63.76%). CONCLUSIONS: The Spanish version of the DEX is an instrument that is valid for evaluating general dysexecutive symptoms in subjects with acquired brain injury. The five-factor factorial structure (planning, cognitive control, inhibition, social awareness and impulse control) offers a greater wealth of information because it measures more aspects of the dys-executive pathology and therefore appears to be more useful in the clinical setting. It is advisable to use the questionnaire in an early stage of evaluation or screening and to use it as a complement to the proxy-reported version.
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Lesões Encefálicas/diagnóstico , Transtornos da Memória/diagnóstico , Inquéritos e Questionários , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , EspanhaRESUMO
Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives.