Search results for "mapping"
showing 10 items of 1508 documents
X-Linked Dilated Cardiomyopathy.
1995
We report on a family with a severe form of X-linked dilated cardiomyopathy (DCM). Two brothers, the elder requiring heart transplantation, and a maternal cousin presented elevated creatine kinase levels, increased right ventricular diameters and electrocardiographic abnormalities. All complained of exertional cramping myalgia, but none had muscle weakness or a pathological electromyogram. Muscle biopsies of these individuals revealed a mild myopathic picture with atrophic type I and hypertrophic type II fibers. Immunofluorescence using N- and C-terminal antibodies (dys-2, dys-3) against the dystrophin protein showed preserved, but reduced intensity of staining of the sarcolemmal membranes.…
Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and red…
2008
A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular level. Applying the Infinium HumanHap300 BeadChip array and BAC-based FISH we found two new non-contiguous microdeletions in addition to the one detected previously by high resolution G-band analysis. A 360 kb loss in band 6p12.3, containing the genes RHAG, CRISP1, 2, and 3, and PGK2, a 1.15 Mb loss in 6p12.2-p12.1, containing the genes PKHD1, IL…
Reduced interhemispheric structural connectivity between anterior cingulate cortices in borderline personality disorder
2008
Functional and structural alterations of the anterior cingulate cortex (ACC), a key region for emotional and cognitive processing, are associated with borderline personality disorder (BPD). However, the interhemispheric structural connectivity between the left and right ACC and between other prefrontal regions in this condition is unknown. We acquired diffusion-tensor imaging data from 20 healthy women and 19 women with BPD and comorbid attention-deficit hyperactivity disorder (ADHD). Interhemispheric structural connectivity between both sides of the ACC, dorsolateral prefrontal cortices and medial orbitofrontal cortices was assessed by a novel probabilistic diffusion tensor-based fiber tra…
Seeking the “Beauty Center” in the Brain: A Meta-Analysis of fMRI Studies of Beautiful Human Faces and Visual Art
2020
AbstractThe existence of a common beauty is a long-standing debate in philosophy and related disciplines. In the last two decades, cognitive neuroscientists have sought to elucidate this issue by exploring the common neural basis of the experience of beauty. Still, empirical evidence for such common neural basis of different forms of beauty is not conclusive. To address this question, we performed an activation likelihood estimation (ALE) meta-analysis on the existing neuroimaging studies of beauty appreciation of faces and visual art by non-expert adults (49 studies, 982 participants, meta-data are available at https://osf.io/s9xds/). We observed that perceiving these two forms of beauty a…
Think globally: Cross-linguistic variation in electrophysiological activity during sentence comprehension
2011
This paper demonstrates systematic cross-linguistic differences in the electrophysiological correlates of conflicts between form and meaning (“semantic reversal anomalies”). These engender P600 effects in English and Dutch (e.g. Kolk et al., 2003 ; Kuperberg et al., 2003), but a biphasic N400 – late positivity pattern in German (Schlesewsky and Bornkessel-Schlesewsky, 2009), and monophasic N400 effects in Turkish (Experiment 1) and Mandarin Chinese (Experiment 2). Experiment 3 revealed that, in Icelandic, semantic reversal anomalies show the English pattern with verbs requiring a position-based identification of argument roles, but the German pattern with verbs requiring a case-based identi…
Molecular analysis of the 9p21 locus and p53 genes in Ewing family tumors.
2001
The EWS-ETS rearrangements, and their respective fusion gene products, are specifically associated with histopathologically Ewing family tumors (EFT). These translocations are implicated in generating malignant transformation of EFT, but the presence of additional genetic alterations must be considered in the pathogenesis of such tumors. We analyzed 26 samples (biopsies and/or nude mice xenotransplants) collected from 19 patients with an EFT to determine whether molecular and cytogenetic alterations of the G(1)/S checkpoint genes are implicated in the pathogenesis of EFT. We found inactivating p53 mutations in three (16%) cases, which correlated with a loss of p21(WAF1/Cip1) expression and …
Extraction of prefronto-amygdalar pathways by combining probability maps
2008
Many recent studies reported altered functional connectivity within the frontolimbic circuitry in a wide range of neuropsychiatric disorders. However, functional connectivity must rely on structural connections. In this study we applied a novel probabilistic fiber tracking method to assess the structural connectivity between the amygdala and different prefrontal brain regions in vivo. Twenty healthy subjects were investigated with diffusion tensor imaging. Probabilistic fiber tracking was started from the amygdala and different prefrontal brain regions. Resulting probability maps were combined using an extended multiplication of probabilistic maps to identify the most probable anatomical pa…
Dynamic image denoising for voxel-wise quantification with Statistical Parametric Mapping in molecular neuroimaging.
2018
Purpose PET and SPECT voxel kinetics are highly noised. To our knowledge, no study has determined the effect of denoising on the ability to detect differences in binding at the voxel level using Statistical Parametric Mapping (SPM). Methods In the present study, groups of subject-images with a 10%- and 20%- difference in binding of [123I]iomazenil (IMZ) were simulated. They were denoised with Factor Analysis (FA). Parametric images of binding potential (BPND) were produced with the simplified reference tissue model (SRTM) and the Logan non-invasive graphical analysis (LNIGA) and analyzed using SPM to detect group differences. FA was also applied to [123I]IMZ and [11C]flumazenil (FMZ) clinic…
A mutation in myotilin causes spheroid body myopathy
2005
Background: Spheroid body myopathy (SBM) is a rare, autosomal dominant, neuromuscular disorder, which has only been previously reported in a single large kindred. Identification of the mutated gene in this disorder may provide insight regarding abnormal neuromuscular function. Methods: The authors completed a detailed clinical evaluation on an extensive kindred diagnosed with SBM. Genome-wide linkage analysis was performed to localize the disease gene to a specific chromosomal region. Further marker genotyping and screening of a positional, functional candidate gene were completed to detect the disease-causing mutation. Pathologic analysis of muscle biopsy was performed on three individuals…
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
2007
Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS.