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942 result(s) for "FENOTIPOS"
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Clinical and inflammatory characteristics of patients with asthma in the Spanish MEGA project cohort
Introduction The MEGA (MEchanism underlying the Genesis and evolution of Asthma) project is a multicenter cohort study carried out in eight Spanish hospitals, gathering clinical, physiological, and molecular data from patients with asthma and multimorbidities in order to gain insight into the different physiopathological mechanisms involved in this disorder. Material and Methods We report the baseline clinical and physiological characteristics and biomarker measures of adult participants in the project with the aim of better understanding the natural history and underlying mechanisms of asthma as well as the associated multimorbidities across different levels of severity. We carried out a detailed clinical examination, pulmonary function testing, measurement of fractional exhaled nitric oxide (FeNO), blood counts, induced sputum, skin prick tests, chest computed tomography scan, asthma questionnaires, and multimorbidity assessment in 512 asthmatic patients. Results When compared to patients with milder disease, severe asthmatic patients showed greater presence of symptoms, more exacerbations, lower asthma control, increased airflow obstruction, and higher frequency of chronic rhinosinusitis with nasal polyps, severe rhinitis, anxiety and depression, gastroesophageal reflux, and bronchiectasis. Conclusion The MEGA project succeeded in recruiting a high number of asthma patients, especially those with severe disease, who showed lower control and higher frequency of multimorbidities.
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype
Batten diseases (BDs) are a group of lysosomal storage disorders characterized by seizure, visual loss, and cognitive and motor deterioration. We discovered increased levels of globotriaosylceramide (Gb3) in cellular and murine models of CLN3 and CLN7 diseases and used fluorescent‐conjugated bacterial toxins to label Gb3 to develop a cell‐based high content imaging (HCI) screening assay for the repurposing of FDA‐approved compounds able to reduce this accumulation within BD cells. We found that tamoxifen reduced the lysosomal accumulation of Gb3 in CLN3 and CLN7 cell models, including neuronal progenitor cells (NPCs) from CLN7 patient‐derived induced pluripotent stem cells (iPSC). Here, tamoxifen exerts its action through a mechanism that involves activation of the transcription factor EB (TFEB), a master gene of lysosomal function and autophagy. In vivo administration of tamoxifen to the CLN7 Δex2 mouse model reduced the accumulation of Gb3 and SCMAS, decreased neuroinflammation, and improved motor coordination. These data strongly suggest that tamoxifen may be a suitable drug to treat some types of Batten disease. SYNOPSIS The neuronal ceroid lipofuscinoses (NCL), commonly known as Batten disease (BD), are a group of recessively inherited fatal diseases of the nervous system that typically arise in childhood. There is neither cure nor drugs to revert the course of these diseases. Neural accumulation of lysosomal Gb3 is a novel hallmark of CLN3 and CLN7 batten diseases. The FDA‐approved drug tamoxifen reverts pathological phenotype of CLN3 and CLN7 diseases in vitro and in vivo . Tamoxifen effects are independent of the modulation of estrogen receptors but require the activation of TFEB. Graphical Abstract The neuronal ceroid lipofuscinoses (NCL), commonly known as Batten disease (BD), are a group of recessively inherited fatal diseases of the nervous system that typically arise in childhood. There is neither cure nor drugs to revert the course of these diseases.
Maternal influence on the larval morphometry of the brush-clawed shore crab Hemigrapsus takanoi (Decapoda: Brachyura)
The morphology of larvae is a key factor influencing their behaviour, performance and ultimately their survival. There is evidence indicating a significant morphological variability among broods, and that this may be related to the size or conditions of the mother. However, this maternal influence is not consistent across decapod crustaceans. Using 35 broods from different mothers of the crab Hemigrapsus takanoi collected in the same locality of inner Tokyo Bay and at the same time, we tested the hypothesis that there is a positive relationship between the size of the mother and the progeny’s morphology. Our results indicate that different patterns in the length of the lateral, rostral and dorsal spines differentiated two distinct morphogroups of larvae. These morphogroups were linked to the size of the mother, showing that larger mothers produced bigger larvae with longer carapace spines. It is possible that larger size and longer spines can influence swimming performance and predator avoidance, respectively. These relationships should be tested in future experimental studies.
Behavioral and morphological evidence of an Allen's × Rufous hummingbird (Selasphorus sasin × S. rufus) hybrid zone in southern Oregon and northern California
Allen's (Selasphorus sasin) and Rufous (S. rufus) hummingbird have long been suspected to hybridize, and potentially form a hybrid zone where their ranges overlap in southern Oregon. Migratory Allen's Hummingbird (S. s. sasin) breeds along a narrow strip of the California coast up to the Oregon border, while Rufous Hummingbird breeds from southern Oregon to Alaska. Analysis of behavioral and morphological data for 183 males and morphological data from 138 females showed that Allen's and Rufous hummingbird form a hybrid zone in southern Oregon and northern California. Linear discriminant function analysis and cline analysis of 20 phenotypic characters for males and 9 phenotypic characters for females suggested the center of the coastal transect of this north–south hybrid zone spanned from Bandon, Oregon (Coos County), to Port Orford, Oregon (Curry County). The contact zone extended north into the breeding range of Rufous (into Florence, Lane County, Oregon) and south into the range of Allen's (into Arcata, Humboldt County, California). Sporadic inland sampling suggested the hybrid zone extended at least 94 km inland from the coast. Behavioral data included courtship displays, which were composed of discrete, modular, behavioral elements. Sexual selection acted on these courtship displays, as behavioral clines related to courtship behaviors were more narrow than morphological clines. Some of the courtship behaviors analyzed included previously undescribed diagnostic behavioral characters for Allen's and Rufous hummingbird. Durante mucho tiempo se ha sospechado que Selasphorus sasin y S. rufus se hibridan y que forman potencialmente una zona híbrida en el sur de Oregón donde sus rangos se superponen. La subespecie migratoria S. s. sasin cría a lo largo de una estrecha franja de la costa de California hasta el límite con Oregón, mientras que S. rufus cría desde el sur de Oregón hasta Alaska. El análisis de datos de comportamiento y morfológicos de 183 machos y datos morfológicos de 138 hembras muestran que S. sasin y S. rufus forman una zona híbrida en el sur de Oregón y el norte de California. Un análisis de función discriminante lineal y un análisis de clina de 20 caracteres fenotípicos para los machos y nueve caracteres fenotípicos para las hembras sugirieron que el centro de la transecta costera de esta zona híbrida norte-sur abarcó desde Bandon, Oregón (Condado de Coos), hasta Port Orford, Oregón (Condado de Curry). La zona de contacto se extendió al norte hacia el rango reproductivo de S. rufus (en Florence, Condado de Lane, Oregón), y al sur hacia el rango de S. sasin (en Arcata, Condado de Humboldt, CA). El muestreo esporádico tierra adentro sugirió que la zona híbrida se extendió al menos 94 km tierra adentro desde la costa. Los datos de comportamiento incluyeron despliegues de cortejo que estuvieron compuestos por elementos conductuales discretos y modulares. La selección sexual actuó en estos despliegues de cortejo, ya que las clinas de comportamiento relacionadas a las conductas de cortejo fueron más estrechas que las clinas morfológicas. Algunas de las conductas de cortejo analizadas incluyeron caracteres diagnósticos de comportamiento anteriormente no descriptos para S. sasin y S. rufus.
Nuevas propuestas de la clasificación de diabetes: revisión narrativa
Contexto: según datos de la Federación Internacional de Diabetes (IDF, según sus siglas en inglés) correspondientes al año 2021, tres de cada cuatro pacientes con diabetes viven en países de bajos o medianos ingresos y se espera que el número de individuos alcance los 783 millones para el año 2045. La diabetes fue la causa de muerte del 12,2 % de las personas en el mundo para el año 2021 y, actualmente, los países con mayor número de personas que padecen diabetes son China, India y Estados Unidos. En América del Sur, Brasil ocupa el primer lugar, seguido de México y Colombia. El manejo integral de la diabetes es recomendado en las guías y los programas de abordaje interdisciplinario que buscan un adecuado control, con disminución de hipoglucemias, de complicaciones y generación de autocuidado. La clasificación de la diabetes es un pilar fundamental en el abordaje terapéutico, pronóstico y posibles complicaciones. Objetivo: se realizó una revisión bibliográfica narrativa de la clasificación de la diabetes y sus características. Metodología: se realizó una búsqueda de artículos indexados entre los años 2016 y 2022, en los buscadores Pubmed, Embase, Science Direct y Scopus. Resultados: se encontraron un total de 45 artículos y se seleccionaron 19 por conveniencia. Conclusión: una adecuada clasificación de la diabetes mejora el pronóstico, previene complicaciones y disminuye los gastos. La clasificación de la Asociación Americana de Diabetes y las variables propuestas no son suficientes para subclasificar los fenotipos de la diabetes mellitus tipo 2. El uso de más variables en la subclasificación generará un proceso más complejo, pero permitirá una mejor precisión en tratamientos, prevención de complicaciones y disminución de costos.
e-PTSD: an overview on how new technologies can improve prediction and assessment of Posttraumatic Stress Disorder (PTSD)
Background: New technologies may profoundly change our way of understanding psychiatric disorders including posttraumatic stress disorder (PTSD). Imaging and biomarkers, along with technological and medical informatics developments, might provide an answer regarding at-risk patient's identification. Recent advances in the concept of 'digital phenotype', which refers to the capture of characteristics of a psychiatric disorder by computerized measurement tools, is one paradigmatic example. Objective: The impact of the new technologies on health professionals practice in PTSD care remains to be determined. The recent evolutions could disrupt the clinical practices and practitioners in their beliefs, ethics and representations, going as far as questioning their professional culture. In the present paper, we conducted an extensive search to highlight the articles which reflect the potential of these new technologies. Method: We conducted an overview by querying PubMed database with the terms [PTSD] [Posttraumatic stress disorder] AND [Computer] OR [Computerized] OR [Mobile] OR [Automatic] OR [Automated] OR [Machine learning] OR [Sensor] OR [Heart rate variability] OR [HRV] OR [actigraphy] OR [actimetry] OR [digital] OR [motion] OR [temperature] OR [virtual reality]. Results: We summarized the synthesized literature in two categories: prediction and assessment (including diagnostic, screening and monitoring). Two independent reviewers screened, extracted data and quality appraised the sources. Results were synthesized narratively. Conclusions: This overview shows that many studies are underway allowing researchers to start building a PTSD digital phenotype using passive data obtained by biometric sensors. Active data obtained from Ecological Momentary Assessment (EMA) could allow clinicians to assess PTSD patients. The place of connected objects, Artificial Intelligence and remote monitoring of patients with psychiatric pathology remains to be defined. These tools must be explained and adapted to the different profiles of physicians and patients. The involvement of patients, caregivers and health professionals is essential to the design and evaluation of these new tools.
Two transcription factors, DREB1 and DREB2, with an EREBP/AP2 DNA binding domain separate two cellular signal transduction pathways in drought- and low- temperature-responsive gene expression, respectively, in Arabidopsis
Plant growth is greatly affected by drought and low temperature. Expression of a number of genes is induced by both drought and low temperature, although these stresses are quite different. Previous experiments have established that a cis-acting element named DRE (for dehydration-responsive element) plays an important role in both dehydration- and low-temperature-induced gene expression in Arabidopsis. Two cDNA clones that encode DRE binding proteins, DREB1A and DREB2A, were isolated by using the yeast one-hybrid screening technique. The two cDNA libraries were prepared from dehydrated and cold-treated rosette plants, respectively. The deduced amino acid sequences of DREB1A and DREB2A showed no significant sequence similarity, except in the conserved DNA binding domains found in the EREBP and APETALA2 proteins that function in ethylene-responsive expression and floral morphogenesis, respectively. Both the DREB1A and DREB2A proteins specifically bound to the DRE sequence in vitro and activated the transcription of the beta-glucuronidase reporter gene driven by the DRE sequence in Arabidopsis leaf protoplasts. Expression of the DREB1A gene and its two homologs was induced by low-temperature stress, whereas expression of the DREB2A gene and its single homolog was induced by dehydration. Overexpression of the DREB1A cDNA in transgenic Arabidopsis plants not only induced strong expression of the target genes under unstressed conditions but also caused dwarfed phenotypes in the transgenic plants. These transgenic plants also revealed freezing and dehydration tolerance. In contrast, overexpression of the DREB2A cDNA induced weak expression of the target genes under unstressed conditions and caused growth retardation of the transgenic plants. These results indicate that two independent families of DREB proteins, DREB1 and DREB2, function as trans-acting factors in two separate signal transduction pathways under low-temperature and dehydration conditions, respectively
Double muscling in cattle due to mutations in the myostatin gene
Myostatin (GDF-8) is a member of the transforming growth factor β superfamily of secreted growth and differentiation factors that is essential for proper regulation of skeletal muscle mass in mice. Here we report the myostatin sequences of nine other vertebrate species and the identification of mutations in the coding sequence of bovine myostatin in two breeds of double-muscled cattle, Belgian Blue and Piedmontese, which are known to have an increase in muscle mass relative to conventional cattle. The Belgian Blue myostatin sequence contains an 11-nucleotide deletion in the third exon which causes a frameshift that eliminates virtually all of the mature, active region of the molecule. The Piedmontese myostatin sequence contains a missense mutation in exon 3, resulting in a substitution of tyrosine for an invariant cysteine in the mature region of the protein. The similarity in phenotypes of double-muscled cattle and myostatin null mice suggests that myostatin performs the same biological function in these two species and is a potentially useful target for genetic manipulation in other farm animals.
Genetic improvement of cattle in Colombia, an ideal or a reality?
Background: Genetic improvement programs in domestic species require a series of steps involving the definition of breeding objectives, information systems, variance component estimation, genetic evaluations, selection indexes, and the estimation of genetic progress and variability. Objective: To identify strengths and weaknesses in the design and implementation of genetic improvement programs in Colombian cattle through scientific and academic contributions derived from research. Conclusion: The greatest challenges in the design and implementation of genetic improvement programs in Colombian cattle are currently related to the lack of consensus on breeding objectives among farmers and associations. Additionally, there is a need in the short term to improve both the quality and quantity of information available on databases. Finally, conducting economic analyses that consider genetic parameters is essential for optimizing the response to genetic selection, taking into account the different production systems and environmental conditions that Colombia offers. Antecedentes: Para desenvolver um programa de melhoramento genético animal, é necessário definir objetivos de melhoramento, possuir sistemas de informação eficientes, realizar estimativas dos componentes de variância e a análise genética correspondente, além de estimar índices de seleção, progresso genético esperado e variabilidade genética.Objetivo: Identificar fragilidades e fortalezas no desenho e implementação de programas de melhoramento genético para gado bovino na Colômbia, por meio de uma revisão dos avanços científicos e acadêmicos obtidos na pesquisa sobre essa área no país. Conclusão: O principal desafio encontrado foi a ausência de objetivos de melhoramento definidos coletivamente entre produtores e pesquisadores. Além disso, é necessário, no curto prazo, aprimorar tanto a qualidade quanto a quantidade das informações disponíveis nos bancos de dados. Finalmente, torna-se essencial realizar análises econômicas que considerem o componente genético, a fim de otimizar a resposta à seleção genética, levando em conta as diferenças entre os sistemas produtivos e a diversidade ambiental que a Colômbia possui. Antecedentes: Los programas de mejoramiento genético en especies domésticas requieren una serie de pasos que involucran la definición de objetivos de cría, sistemas de información, estimación de componentes de varianza, evaluaciones genéticas, índices de selección y la estimación del progreso y la variabilidad genética. Objetivo:Identificar fortalezas y debilidades en el diseño e implementación de programas de mejoramiento genético bovino en Colombia mediante los aportes científicos y académicos derivados de la investigación en genética bovina en el país. Conclusión: Los mayores desafíos en el diseño e implementación de programas de mejoramiento genético bovino en Colombia actualmente están relacionados con la ausencia de objetivos de cría consensuados entre los productores y asociaciones. Asimismo, es necesario, a corto plazo, mejorar tanto la calidad como la cantidad de información disponible en las bases de datos. Finalmente, es fundamental suplir la falta de evaluaciones económicas que integren y se incluyan en los análisis genéticos para optimizar la respuesta a la selección genética, considerando los distintos contextos productivos y la diversidad de condiciones ambientales que posee Colombia.
Isolation and characterization of a microorganism that produces biosurfactants in corn steep water
In this work a Bacillus strain with capacity to produce biosurfactants was isolated from commercial corn steep water (CSW). The identification of this bacterium was based on phenotypic characteristics. This is a Gram-positive Bacillus, macroscopically catalase-negative, that possesses high mobility and forms terminal endospore. The colonies formed by the isolated Bacillus strain are characterized by a creaming, dull and glistening phenotype with a small point-like elevation in the center. Regarding its antimicrobial activity, the isolated Bacillus strain was effective against Candida albicans and Staphylococcus aureus observing, in the presence of pathogenic strains, a phenotype dissociation, switching the colonies from a whitish to yellowish pigmentation. The isolated microorganism, contrarily to other Bacillus strains, has the ability to produce extracellular and cell-bound biosurfactants. The analyses revealed that both biosurfactant extracts are similar to the lipopeptide biosurfactant produced by Bacillus subtilis.