59 research outputs found

    Miocarditis aguda: diagnóstico mediante resonancia magnética cardiaca

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    Cardiomyopathies are a common cause of morbidity and mortality. Myocarditis, which is included among specific cardiomyopathies, frequently presents non-specific clinical manifestations and thus may be difficult to diagnose, or even be misdiagnosed. Traditionally employed diagnostic techniques, including endomyocardial biopsy, have been shown to be of limited value. Following its overall implantation in clinical practice, cardiac magnetic resonance imaging (MRI) is nowadays widely considered to be the best non-invasive diagnostic tool available for diagnosing myocarditi

    Neumatosis intestinal y gas portomesentérico: a propósito de un caso

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    La neumatosis intestinal (presencia de gas en el interior de la pared intestinal y en el complejo venoso portomesentérico) es una situación clínica poco frecuente que ha sido característicamente relacionada con la isquemia intestinal y con un desenlace fatal. Existen otras causas que pueden justifi car estos hallazgos y cuya repercusión para el paciente no es inevitablemente trágica. Los avances recientes en técnicas de imagen, sobre todo en tomografía computarizada multicorte (TCMC), permiten un diagnóstico preciso fi able y precoz de estos hallazgos. En este artículo, repasamos las manifestaciones radiológicas de la neumatosis intestinal en TC así como las distintas causas relacionadas con esta entidad, en relación con los hallazgos presentes en un paciente diagnosticado de carcinoma de esófago y en tratamiento quimioterápico. INGLÉS: Intestinal pneumatosis (presence of gas in the intestinal wall and in the portomeseteric veins) is an infrequent clinical situation that has been associated with extended bowel necrosis and fatal outcome. However, there are other reasons that can justify these findings without such an outcome. Recent advances in diagnostic imaging techniques, especially multislice computerized tomography (MSCT), have allowed precise and quick diagnosis of these entities. In this article, we review the MSCT radiological manifestations of intestinal pneumatosis, as well as the different diagnoses related with the findings observed in a patient diagnosed with esophageal carcinoma under chemotherapy treatment

    Factores estructurales, bioquímicos y moleculares de la simbiosis Bradyrhizobium sp. (Lupinus)-Lupinus

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    The present revision summarises some of the original works carried out in our Department to study different aspects of the peculiar symbiosis Bradyrhyzobium sp. Lupinus, by integrating structure and function. The first part of the revision is focused to a structural study on the infection mechanisms, since differ of other legumes. This study was realized by applying immunofluorescent techniques with the green fluorescent protein, immunocytochemistry and different microscopies. It could be observed that the infection by the Bradyrhizobium follows the intercellular way. The infection study includes the presence of enzymatic components, as MAPKs (Mitogen-Activated Protein Kinase) and aldehyde oxidase in the first steps of the symbiosis. Both enzymes are very much related with auxins and cell multiplication. The second part takes up the physiological, biochemical and genetic mechanisms that regulates nitrogen fixation, speccially those related to oxygen diffusion, since nitrogenase activity is very sensible to oxygen and needs a microaerobic atmosphere for its function. Between these mechanisms, the leghemoglobine and the oxygendiffusion resistance barrier have been considered the more important in oxygen regulation. Finally it is included the results of a genetic study carried out to know the genes implicated in nodule oxygen diffusion as: lenod 2, leghemoglobin and nifH.La presente revisión es un resumen de algunos trabajos originales realizados en nuestro Departamento para el estudio de diferentes aspectos de esta peculiar simbiosis, siempre integrando estructura y función. La primera parte está dedicada a un estudio estructural llevado a cabo con el fin de conocer los mecanismos de infección, que difieren de la mayoría de las leguminosas estudiadas. Para este fin se aplicaron técnicas de immunofluorescencia con la green fluorescent protein (GPT), técnicas de inmunocitoquímica y de hibridación in situ. Mediante estos estudios se ha observado que la infección se realiza por vía intercelular. Junto al estudio estructural se describen algunos componentes enzimáticos del nódulo, MAPKinasas (Mitogen-activated protein kinase) y aldehído oxidasa, presentes en estadios tempranos del reconocimiento bacteria-planta. Ambos enzimas están relacionados con la mitosis y la multiplicación de las células radicales. La segunda parte se refiere a los mecanismos fisiológicos, bioquímicos y moleculares que regulan la simbiosis, especialmente los relacionados con la regulación de oxígeno en el nódulo, de gran importancia para la fijación de N2, ya que la nitrogenasa necesita una atmósfera microaeróbica para fijar nitrógeno. Se describen algunos mecanismos de regulación, como la leghemoglobina y la barrera de resistencia a la difusión de O2. Por último también se incluye el estudio genético que realizamos para conocer los genes que regulan la difusión de O2 en el nódulo: lenod 2, leghemoglobin y nifH

    Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

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    Background: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C. Methods: In a prospective observational cohort study, incorporating a retrospective determination of NP-C SI scores, two different diagnostic approaches were applied in two separate groups of unrelated patients from 51 Spanish medical centers (n = 118 in both groups). From Jan 2010 to Apr 2012 (Period 1), patients with =2 clinical signs/symptoms of NP-C were considered ''suspected NP-C'' cases, and NPC1/NPC2 sequencing, plasma chitotriosidase (ChT), CCL18/PARC and sphingomyelinase levels were assessed. Based on findings in Period 1, plasma ChT and CCL18/PARC, and NP-C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 (Period 2), and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP-C SI =70. Filipin staining and 7-ketocholesterol (7-KC) measurements were performed in all patients with NP-C gene mutations, where possible. Results: In total across Periods 1 and 2, 10/236 (4%) patients had a confirmed diagnosis o NP-C based on gene sequencing (5/118 4.2%] in each Period): all of these patients had two causal NPC1 mutations. Single mutant NPC1 alleles were detected in 8/236 (3%) patients, overall. Positive filipin staining results comprised three classical and five variant biochemical phenotypes. No NPC2 mutations were detected. All patients with NPC1 mutations had high ChT activity, high CCL18/PARC concentrations and/or NP-C SI scores =70. Plasma 7-KC was higher than control cut-off values in all patients with two NPC1 mutations, and in the majority of patients with single mutations. Family studies identified three further NP-C patients. Conclusion: This approach may be very useful for laboratories that do not have mass spectrometry facilities and therefore, they cannot use other NP-C biomarkers for diagnosis
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