1,720,985 research outputs found
Are there effective alternatives to surgery for the treatment of symptomatic brainstem cavernous malformation?
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients
We identified a novel heteroplasmic mutation in the mitochodrial DNA gene encoding the ND5 subunit of complex I. This mutation (13514A→G) hits the same codon affected by a previously reported mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)-associated mutation (13513G→A), but the amino acid replacement is different (D393G vs D393N). The 13514A→G mutation was found in two unrelated MELAS-like patients. However, in contrast to typical MELAS, lactic acidosis was absent or mild and the muscle biopsy was morphologically normal. Strongly positive correlation between the percentage of heteroplasmy and defective activity of complex I was found in cybrids. We found an additional 13513G→A-positive case, affected by a progressive mitochondrial encephalomyopathy. Our results clearly demonstrate that the amino acid position D393 is crucial for the function of complex I. Search for D393 mutations should be part of the routine screening for mitochondrial disorders
Impact of functional MRI data preprocessing pipeline on default-mode network detectability in disorders of consciousness
An emerging application of resting-state functional MRI (rs-fMRI) is the study of patients with disorders of consciousness (DoC), where integrity of default-mode network (DMN) activity is associated to the clinical level of preservation of consciousness. Due to the inherent inability to follow verbal instructions, arousal induced by scanning noise and postural pain, these patients tend to exhibit substantial levels of movement. This results in spurious, non-neural fluctuations of the rs-fMRI signal, which impair the evaluation of residual functional connectivity. Here, the effect of data preprocessing choices on the detectability of the DMN was systematically evaluated in a representative cohort of 30 clinically and etiologically heterogeneous DoC patients and 33 healthy controls. Starting from a standard preprocessing pipeline, additional steps were gradually inserted, namely band-pass filtering (BPF), removal of co-variance with the movement vectors, removal of co-variance with the global brain parenchyma signal, rejection of realignment outlier volumes and ventricle masking. Both independent-component analysis (ICA) and seed-based analysis (SBA) were performed, and DMN detectability was assessed quantitatively as well as visually. The results of the present study strongly show that the detection of DMN activity in the sub-optimal fMRI series acquired on DoC patients is contingent on the use of adequate filtering steps. ICA and SBA are differently affected but give convergent findings for high-grade preprocessing. We propose that future studies in this area should adopt the described preprocessing procedures as a minimum standard to reduce the probability of wrongly inferring that DMN activity is absent
Advanced intraoperative ultrasound (ioUS) techniques in focal cortical dysplasia (FCD) surgery: A preliminary experience on a case series
Going Beyond Counting First Authors in Author Co-citation Analysis
The present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
FMRI/ERP of musical syntax: comparison of melodies and unstructured note sequences.
To date, the neural correlates of musical syntax processing have been investigated mainly by means of paradigms in which isolated chords are made incongruent with the harmonic context. Here, we present results obtained contrasting unfamiliar one-part piano melodies with unstructured note sequences, comparable in pitch and rhythm but devoid of any syntactic structure. This paradigm indexes a superset of the cognitive functions involved in processing of harmonic rules. Using functional magnetic resonance imaging, differential activation of a bilateral cortical network comprising the inferior frontal gyrus, superior temporal gyrus and premotor cortex was found. Using event-related potentials, the N2 evoked by each note in melodies was found to have longer latency and a more frontal distribution than that evoked in unstructured sequences
Functional MRI/event-related potential study of sensory consonance and dissonance in musicians and nonmusicians
Pleasurability of individual chords, known as sensory consonance, is widely regarded as physiologically determined and has been shown to be associated with differential activity in the auditory cortex and in several other regions. Here, we present results obtained contrasting isolated four-note chords classified as consonant or dissonant in tonal music. Using event-related functional MRI, consonant chords were found to elicit a larger haemodynamic response in the inferior and middle frontal gyri, premotor cortex and inferior parietal lobule. The effect was right lateralized for nonmusicians and less asymmetric for musicians. Using event-related potentials, the degree of sensory consonance was found to modulate the amplitude of the P1 in both groups and of the N2 in musicians only
Variations on the Author
“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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