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41.
George Gaskell Herbert Gottweis Johannes Starkbaum Monica M Gerber Jacqueline Broerse Ursula Gottweis Abbi Hobbs Ilpo Helén Maria Pashou Karoliina Snell Alexandra Soulier 《European journal of human genetics : EJHG》2013,21(1):121-20
This article examines public perceptions of biobanks in Europe using a multi-method approach combining quantitative and qualitative data. It is shown that public support for biobanks in Europe is variable and dependent on a range of interconnected factors: people''s engagement with biobanks; concerns about privacy and data security, and trust in the socio-political system, key actors and institutions involved in biobanks. We argue that the biobank community needs to acknowledge the impact of these factors if they are to successfully develop and integrate biobanks at a pan-European level. 相似文献
42.
B.B. Little P.M. Kemp R.O. Bost L.M. Snell M.A. Peterman 《American journal of human biology》2000,12(3):382-387
Sudden infant death syndrome (SIDS) victims are difficult to describe physically because they seem outwardly indistinguishable in nearly all characteristics from infants (alive or dead) of comparable chronological age. Relative (allometric) size of vital organ and body weights has not been examined among SIDS victims. In the present study, autopsy organ and body weights for 152 SIDS deaths (1–12 months) were compared with the results of 115 controls that were trauma or illness-related death (0.25–12 months). A pattern of abnormal relative size in vital organs (brain, heart, liver, and kidney) was revealed. In allometric regressions, increase in the weights of the organs relative to total body weight among SIDS victims were approximately three times the increase among controls in the first year of life. This finding indicates a disturbance of normal patterns of vital organ size of SIDS victims that is of unknown etiology. Am. J. Hum. Biol. 12:382–387, 2000. © 2000 Wiley-Liss, Inc. 相似文献
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Renovascular disease in childhood. 总被引:4,自引:0,他引:4
Fifty-four children referred for investigation of hypertension had renovascular disease. In eight patients it was associated with neurofibromatosis, in three with idiopathic hypercalcemia of infancy, and in five cases it followed an arteritic illness. Fibromuscular dysplasia was the underlying abnormality in the majority of cases (46%). Twenty-six patients (48%) were first seen with accelerated hypertension; 38 children (70%) had bilateral renal arterial disease, and in 41 (76%), disease of the small intrarenal vessels was found. Renal vein renin ratios indicated unilateral disease in 31 cases; the results correlated with arteriography findings in 32 (62%) of 51 patients. Eleven children also had the middle aortic syndrome, and 9 of 16 patients, investigated by cerebral arteriography because of cranial bruits or focal neurologic signs, had cerebral vascular abnormalities. Twenty patients were treated surgically--10 by reconstructive procedures, 11 by nephrectomy or heminephrectomy, and 6 by transluminal angioplasty. Of these, 9 (45%) are normotensive with no treatment, 10 have a decreased requirement for antihypertensive drugs, and 1 had no improvement. Thirty-four patients were treated medically because of the extent of their disease; two patients have died of hypertensive complications. We conclude that renal vascular disease in children is often widespread, may be associated with intracerebral vascular disease, frequently affects both kidneys, including both intrarenal and extrarenal vessels, and is therefore not always amenable to surgical intervention and cure. 相似文献
45.
Failure to recognize fetal alcohol syndrome in newborn infants 总被引:3,自引:0,他引:3
B B Little L M Snell C R Rosenfeld L C Gilstrap N F Gant 《American journal of diseases of children (1960)》1990,144(10):1142-1146
A clinically distinct constellation of major and minor anomalies, termed the fetal alcohol syndrome, occurs among infants whose mothers abuse alcohol during pregnancy. In addition, significantly higher rates of pregnancy complications, including perinatal deaths and fetal growth retardation, occur among these women and their offspring. We studied the medical records of 40 infants born to 38 alcohol abusers and the frequency of characteristics associated with fetal alcohol syndrome. Physical examinations of 6 infants revealed primary features consistent with a diagnosis of fetal alcohol syndrome. Postnatal growth and development were very poor in 17 (50%) of 34 liveborn alcohol-exposed infants. The diagnosis of fetal alcohol syndrome did not appear in the medical records of any of these infants despite the fact that the mothers' obstetric records included a history of alcohol abuse during pregnancy. This finding emphasizes the importance of good communication between obstetric and pediatric medical staff at this hospital, particularly when providing care for pregnant women and newborn infants at high risk for complications due to maternal alcohol or other drug abuse. 相似文献
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In a previous analysis of existing antiseizure compounds, we suggested that a common diphenylureido moiety was responsible for the activity-dependent, Na(+) channel blocking actions of these drugs (L. D. Snell et al., 2000, J. Pharmacol. Exp. Ther. 292: 215-227). Thus the novel diphenylureido compound [N,N-(diphenyl)-4-ureido-5,7-dichloro-2-carboxyquinoline] DCUKA was developed to incorporate the diphenylureido pharmacophore into a structure that also acted as an NMDA receptor antagonist. DCUKA has previously been shown to have antiepileptic properties in animals, and in the present study the actions of DCUKA on Na(+) currents were characterized using transfected cells that stably expressed the rat brain Na(v)1.2 channel isoform. In whole-cell voltage-clamp recordings, DCUKA reduced Na(+) currents in a dose- and membrane potential-dependent fashion, with an apparent 1:1 stoichiometry of drug:channel interaction. Characterization of the effects of DCUKA on Na(+) channel function strongly suggested that DCUKA acts by enhancing Na(+) channel inactivation. Thus in the presence of DCUKA, Na(v)1.2 channels showed reduced availability in steady-state inactivation protocols, displayed use-dependent inhibition, and were slower to recover from inactivation than untreated channels, while DCUKA showed no significant interaction with the open state of the channel. As previously postulated for the anticonvulsants carbamazepine and phenytoin, these results could be well explained by a model in which the drug preferentially interacts with the fast inactivated state of the channel. Finally, DCUKA was generally more efficacious than carbamazepine in modifying sodium channel behavior. Thus the diphenylureido moiety identified by a structural analysis of classic anticonvulsants appears to be important to the inactivation-specific Na(+) channel inhibition by this class of antiseizure agents. 相似文献
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Lung volume reduction surgery in emphysema: a systematic review 总被引:5,自引:0,他引:5
Stirling GR Babidge WJ Peacock MJ Smith JA Matar KS Snell GI Colville DJ Maddern GJ 《The Annals of thoracic surgery》2001,72(2):641-648
The aim of this study was to systematically review the literature regarding the safety and efficacy of lung volume reduction surgery (LVRS) in patients with emphysema. Studies on LVRS to August 2000 were identified using MEDLINE, Embase, Current Contents, and the Cochrane Library. Human studies of patients with upper, lower or diffuse distributions of emphysema were included. All types of bullous emphysema were excluded. A surgeon and researcher independently assessed the retrieved articles for their inclusion in the review. When LVRS was compared with medical management, at 2 years LVRS was associated with a higher FEV1 and at least equivalent survival. The use of staple excision of selected areas of lung appeared to be more efficacious than laser ablation. There is insufficient evidence to show preference for median sternotomy or videoscopically assisted thoracotomy, as the more safe and efficacious procedure. In highly selected patients with emphysema LVRS is deemed an acceptable treatment. To fully evaluate the safety and efficacy of LVRS, outcomes beyond 2 years must be included. The results of prospective randomized trials between medical management and LVRS, now in progress, are essential before a final assessment can be made. 相似文献