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排序方式: 共有599条查询结果,搜索用时 593 毫秒
1.
Adaani E Frost Miguel A Qui?ones William A Zoghbi George P Noon 《The Journal of heart and lung transplantation》2005,24(4):501-503
We report the first case in the world literature of a patient with an atrial septal defect, severe pulmonary hypertension, and equalization of pulmonary and systemic pressures, who underwent successful closure of an ASD following prolonged therapy with the intravenous vasodilator epoprostenol. Judicious use of continuous prostacyclin in apparently inoperable patients with congenital heart disease may be associated with significant reversal of pulmonary hypertension, and conversion to an operable state. 相似文献
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Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability 总被引:1,自引:15,他引:1
La Spada AR; Peterson KR; Meadows SA; McClain ME; Jeng G; Chmelar RS; Haugen HA; Chen K; Singer MJ; Moore D; Trask BJ; Fischbeck KH; Clegg CH; McKnight GS 《Human molecular genetics》1998,7(6):959-967
X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG
repeat expansion in the first exon of the androgen receptor (AR) gene.
Disease-associated alleles (37-66 CAGs) change in length when transmitted
from parents to offspring, with a significantly greater tendency to shift
size when inherited paternally. As transgenic mice carrying human AR cDNAs
with 45 and 66 CAG repeats do not display repeat instability, we attempted
to model trinucleotide repeat instability by generating transgenic mice
with yeast artificial chromosomes (YACs) carrying AR CAG repeat expansions
in their genomic context. Studies of independent lines of AR YAC transgenic
mice with CAG 45 alleles reveal intergenerational instability at an overall
rate of approximately 10%. We also find that the 45 CAG repeat tracts are
significantly more unstable with maternal transmission and as the
transmitting mother ages. Of all the CAG/CTG repeat transgenic mice
produced to date the AR YAC CAG 45 mice are unstable with the smallest
trinucleotide repeat mutations, suggesting that the length threshold for
repeat instability in the mouse may be lowered by including the appropriate
flanking human DNA sequences. By sequence-tagged site content analysis and
long range mapping we determined that one unstable transgenic line has
integrated an approximately 70 kb segment of the AR locus due to
fragmentation of the AR YAC. Identification of the cis - acting elements
that permit CAG tract instability and the trans -acting factors that
modulate repeat instability in the AR YAC CAG 45 mice may provide insights
into the molecular basis of trinucleotide repeat instability in humans.
相似文献
6.
Akgul A Youker KA Noon GP Loebe M 《ASAIO journal (American Society for Artificial Internal Organs : 1992)》2005,51(3):275-280
Mast cells have been implicated as important in tissue remodeling and fibrosis. We investigated the effect of mechanical ventricular unloading upon myocardial fibrosis and cardiac mast cell density in patients undergoing left ventricular assist device (LVAD) implantation. Paired myocardial tissue samples were obtained from 30 patients with end-stage cardiomyopathy at the time of LVAD implantation and at the time of removal and were compared with samples taken from donor hearts. Tissue sections were stained and quantitated for mast cells and myocardial fibrosis. Mast cell density (tryptase positive cells) in cardiomyopathy was higher than that in donor hearts (33.5 +/- 3.6 SEM cells/10 fields vs.15.2 +/- 2.0 SEM cells/10 fields respectively, p = 0.04) and was lower than LVAD supported hearts (33.5 +/- 3.6 SEM cells/10 fields vs. 49.8 +/- 5.7 SEM cells/10 fields respectively, p = 0.01). Mast cells are primarily localized in areas of increased interstitial fibrosis adjacent to myocardial cells and not vessels. There was statistically significant correlation between mast cells and interstitial collagen (p = 0.03) in patients before LVAD implantation that did not persist after mechanical support (p = 0.18). These results suggest that mechanical support with left ventricular assist devices induces an increase in mast cell number in the myocardium and an associated decrease in myocardial fibrosis. We believe these data demonstrate a dual role for cardiac mast cells in the increase in fibrosis in heart failure and the decrease after LVAD and its associated cardiac improvement. 相似文献
7.
In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos 45,X/47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathological examination showed streak gonads with some evidence of ovarian stroma and no sign of gonadoblastoma. Polymerase chain reaction (PCR) analysis in blood lymphocytes and gonadal tissues using primers of seven loci along the Y chromosome, including the sex determined region (SRY), azoospermia factor region (AZF) and the deleted in azoospermia ( DAZ ) gene was positive for all loci tested, confirming the isodicentric character of the Y chromosome and indicating the presence of the AZF region. It is remarkable that the existence of spermatogenesis controlling genes does not play an important role in gonadal development and differentiation in a phenotypic female with some Turner stigmata. The data presented here are briefly discussed with previously-described patients. 相似文献
8.
Renal transplant (RT) is now a therapy of choice for end stage renal disease (ESRD). The Nephrology Unit, Asvini started functioning in Dec 90 and to date 1298 sittings of hemodialysis have been given to 45 patients. Of these, 35 were in ESRD and 11 patients underwent renal transplantation at this hospital during the period Jan 91 – Dec 93. One patient expired after 18 months of transplantation due to infection. Early experience in screening patients for RT, use of immunosuppression, management of rejection episodes and protocol are presented with special emphasis on its relevance to the Armed Forces.KEY WORDS: Transplantation, Renal Failure, Immunosuppression, Rejection 相似文献
9.
Sasaki T Takatani S Shiono M Sakuma I Glueck J Noon GP Nosé Y DeBakey ME 《Artificial organs》1992,16(4):407-413
An implantable electromechanical ventricular assist system (VAS) intended for permanent use has been developed. It consists of a conically shaped pumping chamber, a polyolefin (Hexsyn) rubber diaphragm attached to a conically shaped pusher-plate, and a compact roller-screw actuator. Design stroke volume is 63 ml. The device weighs 620 g, and has a total volume of 348 ml. The pump can provide 8 L/min flow against 120 mm Hg afterload with a preload of 10 mm Hg. The inner surfaces are biolized by dry gelatin coating, with inflow and outflow ports accommodating tissue valves. Three subacute in vivo validation studies have been conducted in calves up to two weeks. The entire system functioned satisfactorily in both the fill/empty and the fixed-rate modes. There was no thromboembolic complication without anticoagulation. The pump showed reasonable anatomical fit inside the left thorax. This VAS is compact, efficient, quiet, and easy to control. 相似文献
10.
Multi-organ procurement utilizing cardiopulmonary bypass and profound hypothermic circulatory arrest
Despite advances in preservation solutions, hypothermia remains a critical component of organ preservation for transplantation. Many surgeons involved in multi-organ procurement procedures have expressed concern about the possible detrimental effects of cardiopulmonary bypass and profound hypothermic circulatory arrest on non-thoracic transplant organ function. In order to assess the validity of these concerns, a review of 20 multi-organ harvest procedures performed utilizing cardiopulmonary bypass and profound hypothermic circulatory arrest was undertaken. In all instances this technique was combined with organ flushing utilizing cold preservation solution. Adequate data was available to assess post-transplant organ function of all organs recovered in 16 procedures. Indication for the use of this technique was procurement of a heart-lung bloc in 16 instances and donor instability (hypotension) refractory to volume loading and inotropic agents in 4 instances. Organs obtained, including all organs from unstable donors which would otherwise have been lost, functioned, acceptably. Additionally, blood drained into the pump was used for recipient transfusion in 8 instances. This report documents that cardiopulmonary bypass and profound hypothermic circulatory arrest may be easily combined with traditional procurement flushing techniques and it provides excellent organ preservation for subsequent transplantation. This approach can optimize organ recovery from hemodynamically unstable donors, increasing the number available for transplantation. 相似文献