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One of the major challenges in molecular analysis of arthropods, especially for natural enemies of insect pests, is the intact preservation of the specimens to be integrated into entomological collections. However, most of the DNA extraction protocols involve maceration of the tissue, avoiding the preservation of the original specimen. Two general methods were adapted into non-destructive DNA extraction protocols, DNeasy® Blood & Tissue Kit (A) and the CaCl2 lysis buffer method (B), while the potential of the method with the alkaline lysis buffer (HotSHOT; C) was evaluated for the first time on insect specimens. These protocols were assessed for the recovery of DNA from Ceraeochrysa valida, Tamarixia radiata, and Hippodamia convergens. Photographical records showed that morphological features of the specimens were preserved after the DNA extraction process. COI fragments were successfully amplified with method A (100%), B (77%), and C (88%), respectively. We conclude that these non-destructive DNA extraction methods avoid the destruction of tissue and preserve the original insects and their morphological characteristics for future reference.
Assuntos
DNA/isolamento & purificação , Insetos/genética , Animais , Agentes de Controle Biológico , Técnicas Genéticas , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI features for VCP patients have not been reported so far. METHODS: We collected muscle MRIs of 80 of the 255 patients who participated in the "VCP International Study" and reviewed the T1-weighted (T1w) and short tau inversion recovery (STIR) sequences. We identified a series of potential diagnostic MRI based characteristics useful for the diagnosis of VCP disease and validated them in 1089 MRIs from patients with other genetically confirmed NMDs. RESULTS: Fat replacement of at least one muscle was identified in all symptomatic patients. The most common finding was the existence of patchy areas of fat replacement. Although there was a wide variability of muscles affected, we observed a common pattern characterized by the involvement of periscapular, paraspinal, gluteal and quadriceps muscles. STIR signal was enhanced in 67% of the patients, either in the muscle itself or in the surrounding fascia. We identified 10 diagnostic characteristics based on the pattern identified that allowed us to distinguish VCP disease from other neuromuscular diseases with high accuracy. CONCLUSIONS: Patients with mutations in the VCP gene had common features on muscle MRI that are helpful for diagnosis purposes, including the presence of patchy fat replacement and a prominent involvement of the periscapular, paraspinal, abdominal and thigh muscles.
Assuntos
Músculo Esquelético , Doenças Musculares , Humanos , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/genética , Doenças Musculares/patologia , Mutação/genética , Imageamento por Ressonância Magnética/métodos , Proteína com Valosina/genéticaRESUMO
Background and Objectives: Pathogenic variants in the valosin-containing protein (VCP) gene cause a phenotypically heterogeneous disorder that includes myopathy, motor neuron disease, Paget disease of the bone, frontotemporal dementia, and parkinsonism termed multisystem proteinopathy. This hallmark pleiotropy makes the classification of novel VCP variants challenging. This retrospective study describes and assesses the effect of 19 novel or nonpreviously clinically characterized VCP variants identified in 28 patients (26 unrelated families) in the retrospective VCP International Multicenter Study. Methods: A 6-item clinical score was developed to evaluate the phenotypic level of evidence to support the pathogenicity of the novel variants. Each item is allocated a value, a score ranging from 0.5 to 5.5 points. A receiver-operating characteristic curve was used to identify a cutoff value of 3 to consider a variant as high likelihood disease associated. The scoring system results were confronted with results of in vitro ATPase activity assays and with in silico analysis. Results: All variants were missense, except for one small deletion-insertion, 18 led to amino acid changes within the N and D1 domains, and 13 increased the enzymatic activity. The clinical score coincided with the functional studies in 17 of 19 variants and with the in silico analysis in 12 of 19. For 12 variants, the 3 predictive tools agreed, and for 7 variants, the predictive tools disagreed. The pooled data supported the pathogenicity of 13 of 19 novel VCP variants identified in the study. Discussion: This study provides data to support pathogenicity of 14 of 19 novel VCP variants and provides guidance for clinicians in the evaluation of novel variants in the VCP gene.
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OBJECTIVE: To describe the characteristics of patients with very-late-onset myasthenia gravis (MG). METHODS: This observational cross-sectional multicenter study was based on information in the neurologist-driven Spanish Registry of Neuromuscular Diseases (NMD-ES). All patients were >18 years of age at onset of MG and onset occurred between 2000 and 2016 in all cases. Patients were classified into 3 age subgroups: early-onset MG (age at onset <50 years), late-onset MG (onset ≥50 and <65 years), and very-late-onset MG (onset ≥65 years). Demographic, immunologic, clinical, and therapeutic data were reviewed. RESULTS: A total of 939 patients from 15 hospitals were included: 288 (30.7%) had early-onset MG, 227 (24.2%) late-onset MG, and 424 (45.2%) very-late-onset MG. The mean follow-up was 9.1 years (SD 4.3). Patients with late onset and very late onset were more frequently men (p < 0.0001). Compared to the early-onset and late-onset groups, in the very-late-onset group, the presence of anti-acetylcholine receptor (anti-AChR) antibodies (p < 0.0001) was higher and fewer patients had thymoma (p < 0.0001). Late-onset MG and very-late-onset MG groups more frequently had ocular MG, both at onset (<0.0001) and at maximal worsening (p = 0.001). Although the very-late-onset group presented more life-threatening events (Myasthenia Gravis Foundation of America IVB and V) at onset (p = 0.002), they required fewer drugs (p < 0.0001) and were less frequently drug-refractory (p < 0.0001). CONCLUSIONS: Patients with MG are primarily ≥65 years of age with anti-AChR antibodies and no thymoma. Although patients with very-late-onset MG may present life-threatening events at onset, they achieve a good outcome with fewer immunosuppressants when diagnosed and treated properly.
Assuntos
Miastenia Gravis , Adulto , Idade de Início , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/complicações , Miastenia Gravis/tratamento farmacológico , Miastenia Gravis/imunologia , Resultado do TratamentoRESUMO
No experimental animal model employing a primary human ovarian carcinoma (OC) cell line is presently available that tracks the progression of this cell line with an identifiable marker. This hinders investigations related to developing new approaches for treating OC. Here, we describe the development of a tumor model in NOD/SCID mice for human OC that makes use of the endogenously expressed tumor specific sperm protein 17 (Sp17) cancer testis antigen. In this model, human SKOV-3 OC cell lines were intra-peritoneally seeded. Subsequently viable SKOV-3 cells were recovered from primary organ cell cultures from the liver ovaries, abdomen, and ascitic fluid, and their presence was confirmed by the detection of Sp17 mRNA by RT-PCR and Sp17 protein by immunocytochemistry and FACS analysis. When SKOV-3 tumor cells were administered intravenously the mice developed primarily lung tumor foci. This model makes it possible to evaluate new immunotherapeutic strategies for the treatment of human OC based on the biomarker Sp17.
Assuntos
Antígenos de Superfície/metabolismo , Biomarcadores Tumorais/metabolismo , Proteínas de Transporte/metabolismo , Regulação Neoplásica da Expressão Gênica , Neoplasias Pulmonares/metabolismo , Neoplasias Experimentais/metabolismo , Neoplasias Ovarianas/metabolismo , Animais , Antígenos de Superfície/genética , Biomarcadores Tumorais/genética , Proteínas de Ligação a Calmodulina , Proteínas de Transporte/genética , Linhagem Celular Tumoral , Separação Celular , Progressão da Doença , Feminino , Citometria de Fluxo , Humanos , Imuno-Histoquímica , Injeções Intraperitoneais , Injeções Intravenosas , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/secundário , Proteínas de Membrana , Camundongos , Camundongos Endogâmicos NOD , Camundongos SCID , Transplante de Neoplasias/métodos , Neoplasias Experimentais/diagnóstico , Neoplasias Experimentais/genética , Neoplasias Experimentais/patologia , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fatores de TempoRESUMO
Resumen Debe plantearse como una tarea desde los grupos de investigación identificar y concebir su producción académica desde y para la transferencia y la apropiación del conocimiento en su relación con actores como el estado, la empresa y la so ciedad, posibilitando el bienestar, el desarrollo y la transformación social, este debería ser en un sentido estricto, una de las metas para los grupos de investi gación. Comparar la producción académica de los diferentes grupos de investi gación, permitiendo conocer, identificar y cuantificar cómo se difunde el conoci miento desde las diferentes disciplinas (Ingenierías y las artes y humanidades). Como hallazgo se observa un crecimiento de las investigaciones, así como en producciones bajo diversas tipologías que abordan la solución de problemas en estas áreas y perfilan su objeto de conocimiento declarado.
Abstract It should be raised as a task from research groups to identify and to concei ve their academic production from and for the transfer and appropriation of knowledge in their relationship with stakeholders, such as the state, business, and society, by enabling welfare, development, and social transformation. This should be in a strict sense, one of the goals for research groups. To compare the academic production of the different research groups, which allow to know, to identify, and to quantify how knowledge is disseminated from the different disciplines (Arts and Humanities and Engineering). As a finding, a growth in re search is observed, as well as in productions under different typologies, which address the solution of problems in these areas and outline their declared ob ject of knowledge.
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RESUMEN El cumplimiento de las metas de los Objetivos de Desarrollo Sostenible y el fortalecimiento de las competencias para ser ciudadanos globales plantea grandes desafios a las naciones y especialmente, a sus sistemas educativos. En este contexto, se propone el diseno de un modelo de coordenadas curriculares dirigido a la formación de competencias para el desarrollo sostenible y la ciudadanía mundial, dentro de la Institución Universitaria Pascual Bravo (Colombia). Desde un enfoque Qualitativo, con alcance descriptivo y el diseno de teoria fundamentada, se realizó una caracterización que devela la necesidad de avanzar en modelos curriculares de educación superior, cuya base sean los conocimientos teóricos y prácticos a fin de promover el desarrollo y los estilos de vida sostenible. A partir de ahi, se plantea modelo de gestión curricular que permita reflexionar sobre la importancia de articular dichas competencias a los propósitos misionales. Se concluye que, con su aplicación, la comunidad académica puede adoptar la herramienta teórica y establecer un diseno que favorezca la actualización curricular con enfoque hacia el desarrollo sostenible.
ABSTRACT The fulfillment ofthe targets of the Sustainable Development Goals and the strengthening of the competencies to be global citizens brings out great challenges to the nations and, especially to their educational systems. In this context, the design of a model of curricular coordinates aimed at the formation of skills for sustainable development and world citizenship, within la Institución Universitaria Pascual Bravo (Pascual Bravo University Institution for its English conversion) (Colombia), is proposed. From a qualitative approach, with a descriptive scope and grounded theory design, a characterization was carried out that reveals the need to advance in higher education curricular models, whose base is theoretical and practical knowledge in order to promote the development and sustainable life styles. From there, a curricular management model is proposed that allows to reflect on the importance of articulating these competencies to the missionary purposes. It is concluded that, with its application, the academic community can adopt the theoretical tool and establish a design that favors curricular updating with a focus on sustainable development.
RESUMO O cumprimento das metas dos Objetivos de Desenvolvimento Sustentável e o reforço das competéncias para a cidadania global representam grandes desafios para as nações e, especialmente, para os seus sistemas educativos. Neste contexto, propomos a conceção de um modelo de coordenadas curriculares visando a formação de competéncias para o desenvolvimento sustentável e a cidadania global, no âmbito da Instituição Universitária Pascual Bravo (Colômbia). A partir de uma abordagem qualitativa, com um âmbito descritivo e uma conceção teórica fundamentada, foi realizada uma caracterização que revela a necessidade de avançar nos modelos curriculares do ensino superior cuja base o conhecimento teórico e prático, a fim de promover o desenvolvimento sustentável e os estilos de vida. Nesta base, é proposto um modelo de gestão curricular que permite refletir sobre a importância de articular estas competéncias com os objetivos da missão da instituição. Conclui-se que, com a sua aplicação, a comunidade académica pode adotar a ferramenta teórica e estabelecer um desenho que favoreça a atualização do currículo com enfoque no desenvolvimento sustentável.
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La revolución de la nanotecnología abre un mundo de posibilidades que hacen volar la imaginación; sus múltiples aplicaciones reviven promesas y temores que ya otros avances habían despertado, promesas que van desde la esperanza de encontrar la cura a cientos de enfermedades, extender la vida, conseguir nuevas capacidades para los humanos, hasta solucionar problemas domésticos y cotidianos como el lavado de la ropa, la conservación de alimentos por más tiempo, etc., y temores que abarcan desde la imagen de ejércitos de nanobots atacando, un mundo de espionaje perfeccionado e imperceptible, hasta la acción de nanofármacos que se salen de control. Ante este panorama se hace necesario contar con la reflexión bioética, que en su diálogo con la ciencia nos acerque a las reales posibilidades y problemas que se pueden presentar, pero que también le proporcione a la comunidad científica una reflexión encaminada a mantener una actitud responsable en sus investigaciones y aplicaciones, pues una ética desligada de la ciencia se vuelve abstracta, y una ciencia desligada de la ética se deshumaniza. Pero su labor no termina allí; es necesario que dichas reflexiones sean el insumo para las regulaciones que el Estado deba hacer en materia jurídica.
The nanotechnology revolution opens a world of possibilities that make your imagination, its multiple applications and promises revive fears and other developments had awakened. Promises ranging from the hope of finding a cure hundreds of diseases, extend life, get new capabilities for humans to solve domestic and everyday problems such as laundry, food preservation for longer, etc. And fears ranging from royalty attacking armies of nanobots, a world of sophisticated and undetectable spy action to nanodrugs that are out of control. Against this background it is necessary to have the bioethics, as detached from ethical science becomes abstract, and a science divorced from ethics is dehumanized. But his work does not end there, it is necessary that these discussions are the input for the regulations that the State should do in legal matters.
A revolução da nanotecnologia abre um mundo de possibilidades que fazem voar a imaginação; suas múltiplas aplicações revivem promessas e temores que já outros avanços tinham acordado, promessas que vão desde a esperança de encontrar a cura a centos de doenças, estender a vida, conseguir no-vas capacidades para os humanos, até solucionar problemas domésticos e cotidianos como a lavagem da roupa, a conservação de alimentos por mais tempo, etc., e temores que abarcam desde a imagem de exércitos de nanorrobótica atacando, um mundo de espionagem aperfeiçoada e imperceptível, até a ação de nano fármacos que se saem do controle. Ante este panorama se faz necessário contar com a reflexão bioética, que em seu diálogo com a ciência nos acerque às reais possibilidades e problemas que se podem apresentar, mas que também lhe proporcione à comunidade científica uma reflexão encaminhada a manter uma atitude responsável em suas investigações e aplicações, pois uma ética separada da ciência se volta abstrata, e uma ciência separada da ética se desumaniza. Mas sua labor não termina ai; é necessário que ditas reflexões sejam o insumo para as regulações que o Estado deva fazer em matéria jurídica.
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Los desordenes del piso pélvico incluyen la incontinencia urinaria, incontinencia fecal y prolapso de órgano pélvico que son prevalentes en la población femenina y se pueden presentar al mismo tiempo. El manejo de estos desordenes debe ser realizado por Urólogos y Ginecólogos al mismo tiempo y en un mismo momento quirúrgico para mejorar resultados y como beneficio para las pacientes.
Assuntos
Humanos , Incontinência Fecal/cirurgia , Incontinência Fecal/terapia , Incontinência Urinária/cirurgia , Diafragma da Pelve/cirurgiaRESUMO
La atencion del adolescente se ha hecho desde un marco individual y se ha centrado mas en los problemas que causa a la familia y a la sociedad. Este trabajo pretende dar un nuevo enfoque que permita el manejo integral del adolescente. Se ubica primero a la familia, definiendo el exito o el fracaso del joven en estrecha relacion con la reorganizacion de la estructura familiar en nuevos arreglos jerarquicos y en nuevos modelos de comunicacion que deben hacerse. La terapia debe por lo tanto encaminarse al logro de una mayor autonomia mientras se mantienen lazos de union y afecto con el grupo de origen. Aunque los problemas de un adolescente pueden tomar formas muy diversas desde las sociales, comunicacionales, de conducta y pensamiento debe tenerse en cuenta como su familia simultaneamente pasa por una de las etapas mas dificiles de su ciclo vital: la separacion padres hijos. La relacion sociedad adolescente se ha visto de manera negativa, culpandose mutuamente de sus problemas. Este trabajo hace mas enfasis en el rol constructivo del joven al cuestionar y promover los cambios en la comunidad.