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Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Adults with this rare(More)
Gamma aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the human brain. It plays a decisive role in a variety of nervous system disorders, such as anxiety disorders, epilepsy, schizophrenia, insomnia, and many others. The reproducibility of GABA quantification results obtained with a single-voxel spectroscopy J-difference editing(More)
The insula plays a key role in brain processing of noxious and innocuous thermal stimuli. The anterior and the posterior portions of the insular cortex are involved in different ways in nociceptive and thermoceptive processing. Therefore, their stimulus-specific functional connectivity may also differ. Here we used functional magnetic resonance imaging(More)
BACKGROUND AND PURPOSE Intraoperative MR imaging is being used increasingly during neurosurgical interventions. The aim of this study was to describe and classify different forms of surgically induced intracranial contrast enhancement observed during intraoperative MR examinations. METHODS A total of 51 intraoperative MR examinations were performed to(More)
BACKGROUND AND PURPOSE To study whether computed tomography (CT) can measure the water content of early ischemic edema. METHODS The authors obtained cranial CT in 5 groups of rats subjected to 1 hour (n = 8), 2 hours (n = 11), 3 hours (n = 13), 4 hours (n = 13), or 6 hours (n = 14) of right middle cerebral artery (MCA) occlusion. Immediately after CT, the(More)
Cerebral processing of itch-scratching cycles was studied with functional magnetic resonance imaging (fMRI) in healthy volunteers. The back of the hand was repetitively scratched in the absence and presence of itch induced by histamine applied close to the scratched site. Blood-oxygenation-level-dependent (BOLD) effects were assessed in predefined cortical(More)
BACKGROUND AND PURPOSE A new FPCT application offers the possibility of perfusion (FPCT CBV) and parenchymal (FPCT) imaging within the angiography suite. We tested the hypothesis that findings in FPCT CBV and FPCT would correlate with those obtained using MSCT and PCT. MATERIALS AND METHODS In 16 patients with acute MCA occlusion, FPCT CBV was performed(More)
RATIONALE AND OBJECTIVES The objective of this study was to determine how metabolite values (total N-acetyl aspartate [tNAA], glutamate plus glutamine [Glx], total choline [tCho], myoinositol [mI], and total creatine [tCr]) vary across brain regions in healthy subjects. This study was implemented to create an internal reference database for patients with(More)
The apolipoprotein E (APOE) ε4 allele is the major genetic risk factor for the development of late-onset Alzheimer's disease (AD), whereas the presence of the APOE ε2 allele seems to confer protection. Here, we report that healthy young APOE ε4 carriers have statistically significantly smaller hippocampal volumes than APOE ε2 carriers, while no differences(More)
IMPORTANCE Although use of oral anticoagulants (OACs) is increasing, there is a substantial lack of data on how to treat OAC-associated intracerebral hemorrhage (ICH). OBJECTIVE To assess the association of anticoagulation reversal and blood pressure (BP) with hematoma enlargement and the effects of OAC resumption. DESIGN, SETTING, AND PARTICIPANTS(More)