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71.
Laura A.E.M. Laan Annemieke Th. den Boer Raoul C.M. Hennekam Willy O. Renier Oebele F. Brouwer 《American journal of medical genetics. Part A》1996,66(3):356-360
We studied the clinical and EEG-findings in 28 adult patients (aged 20–53 years) with Angelman syndrome (AS). Twenty-three showed a maternal chromosome 15q11–13 deletion; in 5, the diagnosis was based on a combination of typical clinical findings. Compared to the clinical manifestations present in childhood, “coarsening” of facial traits (100%), thoracic scoliosis (71%), and being wheelchair-bound (39%) were found more frequently. Paroxysms of laughter were still observed in adulthood (79%), but less frequently than in childhood. Most adult patients could feed themselves, but needed help with many daily activities. The majority (82%) had epileptic seizures. Abnormal EEG-activity consisting of 2–3/s rhythmic triphasic waves of high amplitude with a maximum over the frontal regions, which has been identified in many AS children, was found in 67% of these adult patients. © 1996 Wiley-Liss, Inc. 相似文献
72.
Nynke G. Hoogeveen Martien A. Cohen Stuart Gerard J. Fleer Willy Frank Manfred Arnold 《Macromolecular chemistry and physics.》1996,197(8):2553-2564
In this publication we describe the synthesis and properties of a novel type of block copolymer. The anionically synthesised block copolymer consists of a neutral, watersoluble block (2,3-dihydroxypropyl methacrylate, HMA) and a pH-dependently charged one (2-dimethylaminoethyl methacrylate, AMA). The adsorption on silica and its effect on the colloidal stability were evaluated. The adsorbed amount is mainly determined by the electrostatics, which leads to a maximum adsorbed amount at low AMA content. The block copolymers tend to destabilise colloidal silica, due to a charge neutralisation upon adsorption, which is not compensated by the formation of a steric layer. 相似文献
73.
E van der Schueren W Landuyt K K Ang A J van der Kogel 《International journal of radiation oncology, biology, physics》1988,14(2):297-300
Recently published results, from this group, on rat cervical spinal cord, a late responding tissue, indicated no further sparing with lowering the fraction size from 2 to 1.8, 1.5, and 1.3 Gy. In the present experiments a small but probably significant rise in tolerance is suggested, when the dose per fraction was decreased from 2 Gy down to 1 Gy. This rise would however still be much less than what is predicted by the linear quadratic model, based on the experimental data obtained with fraction sizes larger than 2 Gy. 相似文献
74.
Augmentation of mechanical properties in osteoporotic vertebral bones – a biomechanical investigation of vertebroplasty efficacy with different bone cements 总被引:12,自引:0,他引:12
Paul F. Heini Ulrich Berlemann Manfred Kaufmann Kurt Lippuner Christoph Fankhauser Pascale van Landuyt 《European spine journal》2001,10(2):164-171
Recent clinical trials have reported favorable early results for transpedicular vertebral cement reinforcement of osteoporotic vertebral insufficiencies. There is, however, a lack of basic data on the application, safety and biomechanical efficacy of materials such as polymethyl-methacrylate (PMMA) and calciumphospate (CaP) cements. The present study analyzed 33 vertebral pairs from five human cadaver spines. Thirty-nine vertebrae were osteoporotic (bone mineral density < 0.75 g/cm2), 27 showed nearly normal values. The cranial vertebra of each pair was augmented with either PMMA (Palacos E-Flow) or experimental brushite cement (EBC), with the caudal vertebra as a control. PMMA and EBC were easy to inject, and vertebral fillings of 20-50% were achieved. The maximal possible filling was inversely correlated to the bone mineral density (BMD) values. Cement extrusion into the spinal canal was observed in 12% of cases. All specimens were subjected to axial compression tests in a displacement-controlled mode. From load-displacement curves, the stiffness, S, and the maximal force before failure, Fmax, were determined. Compared with the native control vertebrae, a statistically significant increase in vertebral stiffness and Fmax was observed by the augmentation. With PMMA the stiffness increased by 174% (P = 0.018) and Fmax by 195% (P = 0.001); the corresponding augmentation with EBC was 120% (P = 0.03) and 113% (P = 0.002). The lower the initial BMD, the more pronounced was the augmentation effect. Both PMMA and EBC augmentation reliably and significantly raised the stiffness and maximal tolerable force until failure in osteoporotic vertebral bodies. In non-porotic specimens, no significant increase was achieved. 相似文献
75.
76.
Thor Willy Ruud Hansen Lutz Nietsch Elisabeth Norman Jesper Vandborg Bjerre Jean-Michel Hascoet Khalaf Mreihil Finn Ebbesen 《Acta paediatrica (Oslo, Norway : 1992)》2009,98(10):1689-1694
Aim: To show the potential for reversing acute intermediate to advanced phase bilirubin encephalopathy.
Methods: Case studies.
Results: Six extremely jaundiced infants had symptoms of intermediate to advanced phase acute bilirubin encephalopathy. The infants were treated aggressively. Two patients had brain magnetic resonance imaging showing increased signals in the globus pallidus. On follow-up, all infants are neurologically normal.
Conclusions: Intermediate-to-advanced stage acute bilirubin encephalopathy may occasionally be reversible. These cases provide a strong argument in favour of rapid and aggressive intervention in infants presenting with extreme jaundice and neurological symptoms. 相似文献
Methods: Case studies.
Results: Six extremely jaundiced infants had symptoms of intermediate to advanced phase acute bilirubin encephalopathy. The infants were treated aggressively. Two patients had brain magnetic resonance imaging showing increased signals in the globus pallidus. On follow-up, all infants are neurologically normal.
Conclusions: Intermediate-to-advanced stage acute bilirubin encephalopathy may occasionally be reversible. These cases provide a strong argument in favour of rapid and aggressive intervention in infants presenting with extreme jaundice and neurological symptoms. 相似文献
77.
Purpose: The Disability Adjusted Life Year (DALY) is a unit that was developed for use in cost-effectiveness analysis and epidemiology studies. It is a combined measure of both death and disability, and has been extensively utilized in several countries and across various conditions. The purpose of this paper is to examine the implications for rehabilitation of the widespread use of this measure. Method: The premises upon which the disability weight were developed are examined in the light of existing literature. Conclusion: It is concluded that, whereas the incorporation of the impact of disability on disease burden is to be lauded, the DALY is insensitive to changes in disability status. Consequently, resource allocation to rehabilitation activities based on cost-effectiveness analysis using DALYs may be diminished. There is also a dearth of epidemiological information relating to disability and it is incumbent on rehabilitation professionals to address this lack. The DALY protocol is under revision and those concerned with rehabilitation issues should contribute to the debates surrounding cost-effectiveness analysis and the units that are used to determine the effectiveness component. 相似文献
78.
Christian Willy Thorsten Hauer Niels Huschitt Hans-Georg Palm 《Langenbeck's archives of surgery / Deutsche Gesellschaft fur Chirurgie》2011,396(4):507-522
Introduction
In 2010, the world witnessed 32 wars and other armed conflicts. Epidemiological analyses of mechanisms and patterns of injury of soldiers sent into these conflicts can be utilised to identify the surgical expertise that is required in a combat setting providing important parameters to adjust medical infrastructure and training requirements for future Military Surgeons. 相似文献79.
Laurence Portois Sébastien Peltier Abdullah Sener Willy J. Malaisse Yvon A. Carpentier 《Nutrition Research》2008
Rats depleted of long-chain polyunsaturated n-3 fatty acids (n-3–D) display several features of the metabolic syndrome, including obesity, liver steatosis, insulin resistance, hypertension, and cardiac hypertrophy. In this study, the heart phospholipid (PL) and triacylglycerol (TG) fatty acid content and pattern were compared between female control rats (C) and n-3–D rats. The sole n-3 fatty acids found in n-3–D rats, C22:5(n-3) and C22:6(n-3), were 10 to 20 times lower than in C. The total fatty acid content of PL was lower in n-3–D rats than C. No ectopic TG accumulation was found in n-3–D rats. In both PL and TG, the C16:0/C16:1(n-7) and C18:0/C18:1(n-9) ratios suggested increased Δ9-desaturase activity in n-3–D rats. The PL C18:2(n-6)/C20:4(n-6) and C20:4(n-6)/C22:4(n-6) ratios were also lower in n-3–D rats than C. Prior intravenous injection of a medium-chain TG:fish oil emulsion to n-3–D rats 60 to 120 minutes before killing augmented the PL content in C22:5(n-3) and C22:6(n-3), minimized the age-related decrease in the PL C18:1(n-9) relative content, and increased the TG C22:4(n-6) content. The alteration of cardiac function in n-3–D rats and its improvement after injection of medium-chain TG:fish oil emulsion coincides with parallel changes in heart lipid fatty acid content and pattern. 相似文献
80.
Anne Uyttebroeck Eric Legius Penelope Brock Willy Van De Casseye Paul Casaer Maria Casteels Van Daele 《Pediatric blood & cancer》1995,24(1):46-49
A young child with neurofibromatosis type 1 (NF1) is reported who developed two primary malignancies: a glioblastoma, followed 6 months later by an abdominal B cell non-Hodgkin's lymphoma. The child is now 4.5 years off treatment and disease free, but has developed progressive and severe psychomotor retardation as sequelae. The NF1 gene is known to act as a tumor suppressor gene. The possible mechanisms leading to the occurrence of a second primary tumor in this child are discussed. © 1995 Wiley-Liss, Inc. 相似文献