49 research outputs found
Los efectos económicos de la inmigración en Aragón
En este trabajo se evidencian algunos de los efectos positivos que la migración tiene en los países de destino, un tema que ha sido analizado en profundidad por diversos autores. En particular se revisa el caso de la migración en España y más concretamente en Aragón. Se señalan, y cuantifican, los principales factores económicos, sociales, medioambientales que conllevan que las personas emigren. Se destacan los beneficios potenciales que la inmigración provoca sobre la seguridad social, el empleo y el crecimiento económico. Por último, se indican las razones económicas por las que la migración cobrará mayor importancia en Aragón en los siguientes años y por las que se puede considerar una tendencia muy sólida para el futuro.<br /
El delito de ciberacoso en el Código Penal español
En el trabajo se realiza un análisis típico de las conductas descritas en el art. 183 bis del CP, introducido con la LO 5/2010, además de una alusión al art. 183 ter de la nueva LO 1/2015, que modifica el primer artículo nombrado
Manejo anestésico de gestante con síndrome de Brugada en área de partos. A propósito de un caso.
There are few publications available in relation to the anesthetic management of pregnant women with Brugada syndrome. Given the predisposition to ventricular arrhythmias and associated sudden cardiac death, anesthesiologists must know what drugs should be avoided and what type of anesthesia can be used in these cases.
The anesthetic management of a pregnant woman with the SCN5A pathogenic variant of Brugada syndrome in the delivery area is described. A combined spinal-epidural technique with L-bupivacaine is performed as a rescue due to inadequate epidural analgesia during labor. With the description of this case, we updated the anesthetic management of this type of patient.Hay escaso número de publicaciones disponibles en relación al manejo anestésico de mujeres embarazadas con síndrome de Brugada. Dada la predisposición a arritmias ventriculares y muerte súbita cardiaca asociada, los anestesiólogos debemos conocer qué drogas deben ser evitadas y qué tipo de anestesia puede ser utilizada en estos casos.
Se describe el manejo anestésico de una gestante portadora de variante patogénica SCN5A del síndrome de Brugada en el área de partos. Se realiza técnica combinada espinal-epidural con levobupivacaina como rescate por analgesia epidural inadecuada durante el trabajo de parto. Con la descripción de este caso, realizamos una actualización del manejo anestésico de este tipo de pacientes
Avances en el modelado tridimensional de la interacción del oleaje con estructuras: aplicaciones innovadoras
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
Objective: to identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods: whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and cDNA Sanger sequencing were performed on RNA extracted from patient's fibroblasts, as well as western blot. Results: a novel missense variant in SPG7 (c.2195T> C; p.Leu732Pro) was first found by whole-exome sequencing (WES), while the second, also unreported, deep intronic variant (c.286 + 853A>G) was identified by whole-genome sequencing (WGS). RT-PCR confirmed the in silico predictions showing that this variant activated a cryptic splice site, inducing the inclusion of a pseudoexon into the mRNA sequence, which encoded a premature stop codon. Western blot showed decreased SPG7 levels in patient's fibroblasts. Interpretation: identification of a deep intronic variant in SPG7, which could only have been detected by performing WGS, led to a diagnosis in this HSP patient. This case challenges the notion of an autosomal dominant inheritance for SPG7, and illustrates the importance of performing WGS subsequently or alternatively to WES to find additional mutations, especially in patients carrying one variant in a gene causing a predominantly autosomal recessive disease
Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study
Background: BSCL2 heterozygote mutations are a common cause of distal hereditary motor neuropathies (dHMN). We present a series of BSCL2 patients and correlate clinical, neurophysiological and muscle-MRI findings. Methods: 26 patients from 5 families carrying the p.N88S mutation were ascertained. Age of onset, clinical phenotype (dHMN, Charcot-Marie-Tooth/CMT, spastic paraplegia), physical examination, disability measured as modified Rankin score (mRS) and neurophysiological findings were collected. A whole body muscle-MRI had been performed in 18 patients. We analyzed the pattern of muscle involvement on T1-weighted and STIR sequences. Hierarchical analysis using heatmaps and a MRI Composite Score (MRI CS) were generated. Statistical analysis was carried out with STATA SE v.15. Results Mean age was 51.54+/-19.94 years and 14 patients were males. dHMN was the most common phenotype (50%) and 5 patients (19.23%) showed no findings on examination. Disease onset was commonly in childhood and disability was low (mRS=1.34+/-1.13) although median time since onset of disease was 32 years (range=10-47). CMT-like patients were more disabled and disability correlated with age. On muscle-MRI, thenar eminence, soleus and tibialis anterior were most frequently involved, irrespective of clinical phenotype. MRI CS was strongly correlated with disability. Conclusion: Patients with the p.N88S BSCL2 gene mutation are phenotypically variable, although dHMN is most frequent and generally slowly progressive. Muscle-MRI pattern is consistent regardless of phenotype and correlates with disease severity, probably serving as a reliable outcome measure for future clinical trials
Time discrimination and change detection could share a common brain network: findings of a task-based fMRI study
IntroductionOver the past few years, several studies have described the brain activation pattern related to both time discrimination (TD) and change detection processes. We hypothesize that both processes share a common brain network which may play a significant role in more complex cognitive processes. The main goal of this proof-of-concept study is to describe the pattern of brain activity involved in TD and oddball detection (OD) paradigms, and in processes requiring higher cognitive effort.MethodsWe designed an experimental task, including an auditory test tool to assess TD and OD paradigms, which was conducted under functional magnetic resonance imaging (fMRI) in 14 healthy participants. We added a cognitive control component into both paradigms in our test tool. We used the general linear model (GLM) to analyze the individual fMRI data images and the random effects model for group inference.ResultsWe defined the areas of brain activation related to TD and OD paradigms. We performed a conjunction analysis of contrast TD (task > control) and OD (task > control) patterns, finding both similarities and significant differences between them.DiscussionWe conclude that change detection and other cognitive processes requiring an increase in cognitive effort require participation of overlapping functional and neuroanatomical components, suggesting the presence of a common time and change detection network. This is of particular relevance for future research on normal cognitive functioning in the healthy population, as well as for the study of cognitive impairment and clinical manifestations associated with various neuropsychiatric conditions such as schizophrenia