Search results for "functional"
showing 10 items of 4822 documents
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
2003
Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…
Neural correlates of antinociception in borderline personality disorder.
2006
Context A characteristic feature of borderline personality disorder (BPD) is self-injurious behavior in conjunction with stress-induced reduction of pain perception. Reduced pain sensitivity has been experimentally confirmed in patients with BPD, but the neural correlates of antinociceptive mechanisms in BPD are unknown. We predicted that heat stimuli in patients with BPD would activate brain areas concerned with cognitive and emotional evaluation of pain. Objective To assess the psychophysical properties and neural correlates of altered pain processing in patients with BPD. Design Case-control study. Setting A university hospital. Participants Twelve women with BPD and self-injurious behav…
Associations between parental alcohol problems in childhood and adversities during childhood and later adulthood: a cross-sectional study of 28047 ad…
2021
Abstract Background Adverse childhood experiences (ACE) are related to adverse physical and mental health outcomes. However, few larger studies based on a general population sample with age groups ranging from young adults to elderly have investigated whether parental alcohol problems increase the risk of offspring subjective reports of ACE both during childhood and current adult adversities. The purpose of this study was to examine the associations between parental alcohol problems and adversities during childhood and later in adulthood. Methods The 28,047 respondents were adults (> 18 years old) from the general population who participated in the Norwegian Counties Public Health Survey…
Intratumoral Haemorrhage Causing an Unusual Clinical Presentation of a Vestibular Schwannoma
2012
We present a case of an elderly woman with no history of audiological disease with sudden onset of visual and hearing deficits associated with systemic clinical signs. On examination she had impairment of right CNs from V to X. CT and MR imaging demonstrated a cystic vestibular schwannoma with a rare intralesional fluid-fluid level correlated to a recent bleed. We include high quality MR images to show the acute impairment of the cranial nerves next to the tumour after acute bleeding. Our case report includes a voxel-based morphometry (VMB) analysis of the tumour that, as far as we know, has never been done before for such a tumour. VBM analysis was performed to calculate the hypothesized …
Guía de práctica clínica: síndrome del intestino irritable con estreñimiento y estreñimiento funcional en adultos: concepto, diagnóstico y continuida…
2016
Resumen En esta Guía de práctica clínica analizamos el manejo diagnóstico y terapéutico de pacientes adultos con estreñimiento y molestias abdominales, bajo el espectro del síndrome del intestino irritable y el estreñimiento funcional. Tienen una importante repercusión personal, sanitaria y social, afectando a la calidad de vida de los pacientes que las padecen. En el síndrome del intestino irritable con predomino del estreñimiento, este es la alteración deposicional predominante junto con dolor abdominal recurrente, hinchazón y distensión abdominal frecuente. El estreñimiento se caracteriza por la dificultad o la escasa frecuencia en las deposiciones, acompañado por esfuerzo excesivo duran…
Empirical examination of executive functioning, ADHD associated behaviors, and functional impairments in adults with persistent ADHD, remittent ADHD,…
2019
Abstract Background Previous studies suggest that childhood attention deficit hyperactivity disorder (ADHD) may continue in adulthood, producing adverse effects. Therefore, identifying factors that help to differentiate characteristics of ADHD persistence and remission has practical implications for evaluation and treatment. The first aim of this study was to analyze differences in executive functions (shift, working memory, inhibition, and plan/organize), symptoms associated with ADHD (inattention, hyperactivity, emotional lability, and self-concept), and functional impairments in adults with persistent ADHD (ADHD-P), with remittent ADHD (ADHD-R), and without ADHD (N-ADHD). The second aim …
Neurobiological signature of intimacy in anorexia nervosa
2019
Background Intimacy and psychosexual development represent core problems of anorexia nervosa (AN). Experiential and neurobiological evidence however is scarce. Material and methods Thirty-one female AN patients were compared with 35 non-patients (NP) and 22 recovered participants (REC) by using functional magnetic resonance imaging. Participants viewed pictures of couples in intimate relationships and control stimuli. Results AN patients experienced intimate stimuli with lower valence and dominance. AN showed decreased activation of parietal cortices. NP decreased the prefrontal cortex response, which AN patients did not. REC participants did not differ from NP on a behavioural level, thoug…
Functional MRI of human primary somatosensory and motor cortex during median nerve stimulation.
1999
Abstract Objectives: Somatosensory evoked potential (SEP) studies suggested that some early cortical SEP components may be generated in the primary motor cortex (M1) rather than the primary somatosensory cortex (S1). Methods: We now used functional magnetic resonance imaging (fMRI) to study activation of S1 and M1 by electrical median nerve stimulation in healthy volunteers. Results: The hand areas of both S1 and M1 showed significant activation (correlation coefficients >0.45) in 7 of 9 subjects (activated volume S1>M1). For comparison, a sequential finger opposition task significantly activated S1 in 7 and M1 in all 9 subjects (activated volume M1>S1). Conclusions: These data show that th…
Bilateral reciprocal organisation in man: focus on IA interneurone
1994
The H reflex of flexor carpi radialis and radial-induced reciprocal inhibition were recorded in normal subjects during conditioning stimulation of the contralateral median or radial nerves. It was found that stimulation of the contralateral median nerve enhanced the degree of reciprocal inhibition exerted by the radial nerve on the median nerve, while contralateral radial nerve stimulation reduced the reciprocal inhibition exerted by the extensor on the flexor. In two subjects in which a pure extensor H reflex was recorded specular features were observed following contralateral median and radial stimulation. These findings are considered to be the electrophysiological manifestation of contr…
Functional connectivity of major depression disorder using ongoing EEG during music perception
2020
Abstract Objective The functional connectivity (FC) of major depression disorder (MDD) has not been well studied under naturalistic and continuous stimuli conditions. In this study, we investigated the frequency-specific FC of MDD patients exposed to conditions of music perception using ongoing electroencephalogram (EEG). Methods First, we applied the phase lag index (PLI) method to calculate the connectivity matrices and graph theory-based methods to measure the topology of brain networks across different frequency bands. Then, classification methods were adopted to identify the most discriminate frequency band for the diagnosis of MDD. Results During music perception, MDD patients exhibit…