Arnd Dörfler

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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)
BACKGROUND AND PURPOSE The viability of both brain parenchyma and vascular anatomy is important in estimating the risk and potential benefit of revascularization in patients with acute cerebral ischemia. We tested the hypothesis that when used in conjunction with IV contrast, FD-CT imaging would provide both anatomic and physiologic information that would(More)
There has been a consistent gap in understanding how TNF-α neutralization affects the disease state of arthritis patients so rapidly, considering that joint inflammation in rheumatoid arthritis is a chronic condition with structural changes. We thus hypothesized that neutralization of TNF-α acts through the CNS before directly affecting joint inflammation.(More)
OBJECTIVES This study assessed the rate of periprocedural embolic ischemic brain injury during transapical aortic valve replacement in 25 consecutive patients. BACKGROUND Transcatheter aortic valve implantation is rapidly being established as a new therapeutic approach for aortic valve stenosis. Although initial clinical results are promising, it is(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)
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)
The aim of this study was to compare flat-panel volumetric CT (VCT) to conventional CT (cCT) in the visualization of the extent of subarachnoid hemorrhage (SAH) and the width of the ventricles in patients with acute SAH. Included in the study were 22 patients with an acutely ruptured cerebral aneurysm who received VCT during coil embolization. VCT image(More)
Background and Purpose: The purpose of this study was to analyse in detail the functional outcome and the neuropsychological deficits in patients with space-occupying infarction of the non-dominant hemisphere one year after surgery. Methods: Postoperative complications and retrospective consent to surgery were assessed in a semi-structured interview in 26(More)
The goal of the present study was to test the impact of administration time of the angiotensin II type 1-receptor blocker candesartan on cerebral blood flow (CBF), infarct size, and neuroscore in transient cerebral ischemia. Therefore, 1-hour middle cerebral artery occlusion (MCAO) was followed by reperfusion. Rats received 0.5-mg/kg candesartan(More)