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81.
Verswijvel G Janssens F Colla P Mampaey S Verhelst H Van Eycken P Erven W 《European radiology》2003,13(Z4):L40-L44
Two cases of pseudotumoral peliosis hepatis are presented with emphasis on MRI findings. One patient had four individual lesions, the other had two. Image characteristics in both were: heterogeneic signal intensity on T1-weighted images (T1WI) with areas of high-, intermediate, and low signal intensity; heterogeneic signal intensity on T2WI with presence of numerous intralesional "cystic" hyperintense areas with a hypointense border. Signal intensities on T1WI were iso- to hypointense in one case and mild central hyperintensities were demonstrated in the other case, probably due to intra-lesional hemorrhage or diffuse accumulation of fresh clotting within the sinusoids. One case demonstrated early enhancement of the peripheral borders in the arterial phase, and both demonstrated enhancement in the portovenous and late phases. One case was studied with Gd-BOPTA and iron oxides and demonstrated enhancement with both products, suggestive for the presence of hepatocytes and Kupffer cells. This is the first report of the use of hepato-specific contrast agents in this entity. Spontaneous regression of the lesions was demonstrated on a follow-up MR examination in one case. 相似文献
82.
Intravenous pyruvate loading test in Leigh syndrome 总被引:7,自引:0,他引:7
P M Van Erven F J Gabre?ls R A Wevers W H Doesburg W Ruitenbeek W O Renier K J Lamers 《Journal of the neurological sciences》1987,77(2-3):217-227
Diagnosis of defective pyruvate metabolism can present difficulties in clinical practice. In search of a diagnostic procedure that can give a clear indication of a disturbance of pyruvate metabolism, we have developed an intravenous pyruvate loading test. The loading test was applied to 9 patients with Leigh syndrome. Results and characteristics are described. The test proved to be a sensitive procedure to detect disturbances in pyruvate oxidation. The intravenous pyruvate loading test can be a useful tool in the diagnosis of mitochondrial (encephalo) myopathies. 相似文献
83.
Jo M. Vanoevelen Britt van Erven Jörgen Bierau Xiaoping Huang Gerard T. Berry Rein Vos Ana I. Coelho M. Estela Rubio-Gozalbo 《Journal of inherited metabolic disease》2018,41(1):117-127
Classic galactosemia is a genetic disorder of galactose metabolism, caused by severe deficiency of galactose-1-phosphate uridylyltransferase (GALT) enzyme activity due to mutations of the GALT gene. Its pathogenesis is still not fully elucidated, and a therapy that prevents chronic impairments is lacking. In order to move research forward, there is a high need for a novel animal model, which allows organ studies throughout development and high-throughput screening of pharmacologic compounds. Here, we describe the generation of a galt knockout zebrafish model and present its phenotypical characterization. Using a TALEN approach, a galt knockout line was successfully created. Accordingly, biochemical assays confirm essentially undetectable galt enzyme activity in homozygotes. Analogous to humans, galt knockout fish accumulate galactose-1-phosphate upon exposure to exogenous galactose. Furthermore, without prior exposure to exogenous galactose, they exhibit reduced motor activity and impaired fertility (lower egg quantity per mating, higher number of unsuccessful crossings), resembling the human phenotype(s) of neurological sequelae and subfertility. In conclusion, our galt knockout zebrafish model for classic galactosemia mimics the human phenotype(s) at biochemical and clinical levels. Future studies in our model will contribute to improved understanding and management of this disorder. 相似文献
84.
C. Borst R. Rienks W. P. T. M. Mali L. van Erven 《The international journal of cardiovascular imaging》1989,4(2-4):127-133
In 48 patients with severe claudication due to a total obstruction of the femoropopliteal artery, percutaneous recanalization was attempted with a 2.2 mm diameter rounded sapphire contact probe in conjunction with a continuous wave Nd:YAG laser. In eight patients the contact probe laser catheter took a subintimal course that could not be redressed. Laser recanalization needs high-resolution diagnostic information on the complex anatomy of the obstruction. Intra-arterial ultrasound imaging may provide the necessary information to evaluate, monitor or guide novel angioplasty techniques. The design of an ultrasound catheter which combines high-resolution diagnostic imaging with steerability, flexibility and controlled ablation is now the major engineering challenge in interventional cardiology. 相似文献
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Kiès P Bootsma M Bax JJ Zeppenfeld K van Erven L Wijffels MC van der Wall EE Schalij MJ 《Journal of cardiovascular electrophysiology》2006,17(6):586-593
Introduction: Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is based on a set of criteria proposed by the International Task Force (TF) for Cardiomyopathies in 1994. To fulfill these criteria, presence of both electrocardiographic and anatomical abnormalities must be assessed with ECG and imaging techniques, respectively. This may be difficult in patients with early/mild forms of the disease as detectable structural abnormalities may still be absent. We evaluated in which patients presenting with right ventricular tachycardia (VT) serial reevaluation for ARVD/C is indicated.
Methods and Results: Sixty consecutive patients (41 men, mean age 40±15 years) were evaluated by the TF criteria for possible ARVD/C because of presentation with a left bundle branch block (LBBB) VT, representing 1 minor criterion. The presence on the ECG of a T-wave inversion beyond lead V2 (1 minor), right precordial QRS prolongation (1 major), or an epsilon wave (1 major) was assessed together with the visualization of severe regional/global right ventricle dysfunction (1 major) or mild segmental dilatation/regional hypokinesia (1 minor) by standard imaging techniques. Initially, 22 (37%) patients were diagnosed as having ARVD/C. After 47±39 (range 6–146) months, 23 initially TF-negative patients were reevaluated because of recurrent symptoms, with 12 (52%) additional patients now meeting the TF criteria. Eleven of these 12 (92%) patients presented initially with ECG abnormalities only, but developed structural abnormalities on imaging at follow-up.
Conclusion: ECG abnormalities may precede structural abnormalities warranting serial reevaluation for ARVD/C in initially TF-negative patients presenting with LBBB VT with only ECG abnormalities. 相似文献
Methods and Results: Sixty consecutive patients (41 men, mean age 40±15 years) were evaluated by the TF criteria for possible ARVD/C because of presentation with a left bundle branch block (LBBB) VT, representing 1 minor criterion. The presence on the ECG of a T-wave inversion beyond lead V2 (1 minor), right precordial QRS prolongation (1 major), or an epsilon wave (1 major) was assessed together with the visualization of severe regional/global right ventricle dysfunction (1 major) or mild segmental dilatation/regional hypokinesia (1 minor) by standard imaging techniques. Initially, 22 (37%) patients were diagnosed as having ARVD/C. After 47±39 (range 6–146) months, 23 initially TF-negative patients were reevaluated because of recurrent symptoms, with 12 (52%) additional patients now meeting the TF criteria. Eleven of these 12 (92%) patients presented initially with ECG abnormalities only, but developed structural abnormalities on imaging at follow-up.
Conclusion: ECG abnormalities may precede structural abnormalities warranting serial reevaluation for ARVD/C in initially TF-negative patients presenting with LBBB VT with only ECG abnormalities. 相似文献
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