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21.
22.
Vaughan JR; Farrer MJ; Wszolek ZK; Gasser T; Durr A; Agid Y; Bonifati V; DeMichele G; Volpe G; Lincoln S; Breteler M; Meco G; Brice A; Marsden CD; Hardy J; Wood NW 《Human molecular genetics》1998,7(4):751-753
A mutation in exon 4 of the human alpha-synuclein gene was reported
recently in four families with autosomal dominant Parkinson's disease (PD).
In order to examine whether mutations in this exon or elsewhere in the gene
are common in familial PD, all seven exons of the alpha- synuclein gene
were amplified by PCR from index cases of 30 European and American
Caucasian kindreds affected with autosomal dominant PD. Each product was
sequenced directly and examined for mutations in the open reading frame. No
mutations were found in any of the samples examined. We conclude that the
A53T change described in the alpha- synuclein gene is a rare cause of PD or
may even be a rare variant. Mutations in the regulatory or intronic regions
of the gene were not excluded by this study.
相似文献
23.
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1 总被引:10,自引:0,他引:10
Lemmens I; Van de Ven WJ; Kas K; Zhang CX; Giraud S; Wautot V; Buisson N; De Witte K; Salandre J; Lenoir G; Pugeat M; Calender A; Parente F; Quincey D; Gaudray P; De Wit MJ; Lips CJ; Hoppener JW; Khodaei S; Grant AL; Weber G; Kytola S; Teh BT; Farnebo F; Thakker RV 《Human molecular genetics》1997,6(7):1177-1183
24.
Rigor and resistance to stretch in vertebrate smooth muscle 总被引:2,自引:0,他引:2
25.
Billette J; Janse MJ; van Capelle FJ; Anderson RH; Touboul P; Durrer D 《The American journal of physiology》1976,231(4):1129-1139
26.
Regional cerebral blood flow is measured by monitoring the clearance from the brain of the gamma emitting radioisotope 133Xe following an intracarotid artery bolus injection. On-line data analysis, which is performed on a PDP digital computer, involves exponential stripping to isolate grey and white matter flows and integration of the clearance curves to infinity to enable the mean flow to be calculated. The data is displayed in real time and stored on the PDP 12 Linc tapes as a permanent record. 相似文献
27.
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29.
Endocardial infiltrates in human heart transplants: a serial biopsy analysis comparing four immunosuppression protocols 总被引:2,自引:0,他引:2
Endocardial mononuclear cell infiltrates were studied in 2,350 consecutive biopsies from 172 patients over a period ranging from 4 to 16 months post cardiac transplantation. The patients, otherwise unselected, were equally subdivided into four groups based upon the specific type of maintenance immunosuppression used. This was to allow for comparison of the effects of four separate commonly used recipient immunosuppression protocols, which could potentially influence the characteristics of the infiltrates. With azathiaprine-corticosteroid immunosuppression, endocardial infiltrates in otherwise normal biopsies were exceedingly rare, very minor, and invariably unifocal. Mild and moderate rejection were associated with a highly significant stepwise increase in incidence, prominence, and multifocality of endocardial infiltrates. In contrast, with each of the three cyclosporine-based recipient immunosuppression protocols which were evaluated, approximately 15% of biopsies with no evidence of rejection were associated with endocardial infiltrates. There was a wide range of variation in the prominence of the endocardial infiltrates present. Multifocal infiltrates were frequently encountered, the incidence of which was exclusively dependent upon the specific cyclosporine-based immunosuppression protocol used. With mild and with moderate rejection there was a significant stepwise increase in overall biopsy incidence of all endocardial infiltrates in each of the three groups, although there was no variation in relative prominence of the infiltrates, or in incidence of multifocality when biopsies without rejection were compared. The presence of conspicuous vascular spaces within endocardial infiltrates and significant extension of the infiltrates into the adjacent myocardium, with or without associated myofiber necrosis, were characteristic features of the most prominent endocardial infiltrates in all three cyclosporine-based immunosuppression groups. This constellation of changes has sometimes been referred to as "Quilty" effect. The relative incidence with which these particular features were encountered in association with endocardial infiltrates did not vary with rejection category of the biopsies. This study has shown that the presence of all forms of endocardial infiltrates, in the absence of concomitant rejection, is a characteristic manifestation of cyclosporine-based recipient immunosuppression, regardless of the specific protocol and cyclosporine dosage schedule. Under azathiaprine-based immunosuppression, endocardial infiltrates are almost invariably associated with rejection. It is postulated that cyclosporine-related endocardial mononuclear cell infiltration, in the absence of overt rejection, may result from a low level alloimmune response secondary to fluctuations in cyclosporine drug levels or related factors, and that the incidence with these infiltrates occur can be augmented during acute rejection episodes when the strength of the recipient immune response is magnified. 相似文献
30.
Groups of mice were kept in four combinations of environmental temperature (8 and 20 degrees C) and humidity [50 per cent and 90 per cent relative humidity (RH)]. The mice were anaesthetized and inoculated intranasally with Pasteurella haemolytica growing logarithmically. Groups of 11 mice were killed at 0.5 h intervals for 6 h after inoculation and the number of colony-forming-units (CFU) of Pasteurella haemolytica in the lungs was determined. The CFU in the lungs of mice were affected by a significant interaction of temperature, relative humidity and time after inoculation (P less than 0.01). From 0.05 to 5.0 h after inoculation, fewer CFU were found in the lungs of mice kept in 8 degrees C 50 per cent RH than in mice kept in 8 degrees C 90 per cent RH, 20 degrees C 50 per cent RH and 20 degrees C 90 per cent RH. In each environment, CFU in the lungs of mice increased from inoculation to approximately 3.5 h after inoculation and then decreased (P less than 0.01). In a similar experiment in an environment of approximately 20 degrees C and 50 per cent RH, there were significantly fewer CFU in the lungs of mice vaccinated intranasally 21 days earlier with live P. haemolytica than in the lungs of mice either vaccinated intranasally with formalized P. haemolytica or not vaccinated with P. haemolytica (P less than 0.01). 相似文献