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131.
132.
R. J. Rona A. V. Swan R. Beech D. M. Wilson F. B. Kavanagh C. Brown C. Axtell S. Mandalia 《Clinical genetics》1992,42(4):186-195
For certain genetic conditions DNA testing identifies carriers and determines the risk status of foetuses, thus helping parents to make more informed prenatal decisions. Data, collected from three genetic centres in England and Wales from August 1986 to July 1990, are used to describe trends in demand for DNA testing, the impact of DNA tests on carrier risk assessment, and the use of DNA tests in relation to pregnancy outcome. Altogether the data include 23,388 subjects and 681 pregnancies in 8738 families divided into five cohorts by year of entry and referral. The most frequent gene disorders referred to the genetic centres are currently being tested or will soon be tested. For these disorders the initial high level of activity has declined and may have reached steady state. Demand for DNA services is high for cystic fibrosis and Duchenne muscular dystrophy, intermediate for Huntington's disease, and low for adult polycystic kidney disease, phenylketonuria and tuberous sclerosis. Based on these findings we suggest that demand for DNA tests will be high in serious, untreatable and slow progressing conditions with early onset; intermediate for conditions affecting intellect and neurological integrity with later onset; and low for treatable, late-onset conditions, or those for which there is evidence of heterogeneity, and variable penetrance. It would be helpful to assess the extent to which this view of demand is confirmed when the new disorders being DNA tested are considered and for the pattern of activity of DNA testing for some types of cancer. Since no DNA centre could offer a fully comprehensive testing service, it is recommended that a structure is created to audit overall activity, assist in policy formulation, and influence supraregional service organisation, in order that the spread of DNA services be planned as effectively as possible. This structure would facilitate monitoring of the evolution of contract specifications agreed by commissioners and providers on a regional basis. 相似文献
133.
Different mechanisms by which anti-DNA MoAbs bind to human endothelial cells and glomerular mesangial cells.
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T M Chan G Frampton N A Staines P Hobby G J Perry J S Cameron 《Clinical and experimental immunology》1992,88(1):68-74
The mechanisms by which anti-DNA MoAbs derived from MRL-lpr/lpr mice, bind to human umbilical vein endothelial cells (HUVEC) and glomerular mesangial cells were studied using a cellular ELISA. DNAse-treatment of either the MoAb or HUVEC followed by reconstitution with DNA and/or histones was performed to determine whether DNA and histones mediated such binding. It was found that MoAb410 bound to HUVEC and mesangial cells in the form of preformed DNA/anti-DNA immune complex, and such binding was facilitated by histones. In contrast, MoAb 152 bound directly to cell membrane-associated DNA, and adding DNA to MoAb 152 reduced its cellular binding. DNA binds endothelial cell surface and histones enhance the binding of both MoAb 410 and MoAb 152 to HUVEC by increasing cell membrane-associated DNA. Finally, the degree of MoAb binding to HUVEC is critically influenced by the relative concentrations of antibody, DNA, and histones. 相似文献
134.
In a cohort of 3383 men aged 53 to 74 in the Copenhagen Male Study we investigated the association between ischaemic heart disease (IHD) and the Lewis blood group, assigned to chromosome 19. Among men with the Le(a-b-) phenotype, 8% had a history of non-fatal myocardial infarction, among others the frequency was 4%. The corresponding odds ratio was (95% confidence interval: CI) 1.9 (1.2-3.0) P < 0.01, men with Le(a-b-) had a risk-factor profile and pattern of disease resembling that of Reaven's syndrome X. In a subsequent prospective study 343 men with arteriosclerotic stigmas were excluded. The men had their morbidity and mortality recorded over the next 4 years. One-hundred-and-one men suffered IHD; 26 dying from IHD. In total 162 men died. Men with Le(a-b-) had an increased risk of death from IHD compared with others. Adjusted for age, relative risk (RR) (95% CI) was: 4.4 (1.9-10.3), P < 0.001, and for all causes of mortality: RR = 1.6 (1.0-2.6), P < 0.05. Men with the Le(a-b-) phenotype had an increased risk of an IHD event compared to men with other phenotypes (RR = 1.6 (0.9-2.8), P = 0.10) and a significantly higher IHD case fatality rate (RR = 2.8 (1.5-5.2), P = 0.01). The finding that the Le(a-b-) phenotype is a genetic marker of IHD risk may have implications in terms of prevention. The Le(a-b-) phenotype may also contribute to providing an explanation for the substantial ethnic differences found in the incidence of IHD. The similar risk-factor profile and pattern of disease found between Le(a-b-) men and individuals with Reaven's syndrome X is hypothesized to be due to a close genetic relationship on chromosome 19. 相似文献
135.
PUVA治疗诱导皮肤线粒体DNA 4977 bp缺失突变累积的研究 总被引:1,自引:0,他引:1
为探讨线粒体DNA(mitochondrialDNA,mtDNA)4977bp缺失突变与皮肤光老化之间的关系,采用三条引物PCR的方法检测长波紫外线光化学疗法(PUVA)治疗的银屑病患者背部非皮损区皮肤mtDNA4977bp缺失突变的累积。结果发现,在PUVA治疗期间3~21天、治疗后1~6个月和治疗后6个月以上的各组活检标本中,发生4977bp缺失突变的mtDNA占总mtDNA比例分别为0.06,0.12和0.19,和未经PUVA治疗的对照组比较均有显著性差异(P<0.01)。表明线粒体DNA4977bp缺失突变累积与皮肤光老化密切相关,可能作为衡量皮肤紫外线损伤程度的分子生物学标志。 相似文献
136.
To investigate the relationship between age and renal vascular resistance and to establish nomative data of the systolic/diastolic
ratio (S/D ratio), pulsatility index (PI), and resistant index (RI) of the renal artery in the normal pediatric population,
we studied 252 normal children aged newborn to 13 years (a total of 449 kidneys) with a color Doppler unit. After the normality
of the kidney was established, color flow mapping was performed to localize the segmental portion of the renal artery. Flow
velocity waveforms were then obtained by pulsed Doppler, and S/D ratio, PI, and RI were calculated. Multiple regression analysis
confirmed the age dependence of the S/D ratio, PI, and RI of the renal artery in normal children. Renal vascular resistance
continuously declines after birth and stabilizes at the age of 102 – 130 months. Normative data for S/D ratio, PI, and RI
of the renal artery in normal children were established for each age group. Since renal vascular resistance decreases with
age and stabilizes at 8 – 10 years, we suggest using different normal ranges for each age group when studying renal vascular
resistance in pediatric patients.
Received October 5, 1995; received in revised form and accepted April 24, 1996 相似文献
137.
138.
胫骨延长后骨痂直径与新生骨预后关系的临床分析 总被引:1,自引:0,他引:1
目的探讨胫骨延长后骨痂直径与新生骨预后的关系.方法 1996年1月~2001年12月,对68例胫骨延长者测量达所需延长长度时的骨痂直径,计算骨痂直径率(callus diameter ratios,CDR);统计拆除外固定架后2~4周时新生骨发生骨折例数及畸形角度,比较骨折和成角畸形与CDR的关系.结果拆除外固定架前胫骨前屈角度5度以上畸形19例,其中11例发生骨折;拆除外固定架后胫骨出现5度以上畸形6例,其中2例骨折;其余43例胫骨延长骨痂正常愈合.计算CDR值:CDR值小于80% 23例,其中发生新生骨骨折13例,成角畸形5度以上者21例;CDR在81%~85%之间6例,成角畸形5度以上4例;CDR值超过86% 39例,无畸形或新生骨骨折.结论胫骨延长时CDR小于80%时,容易发生新生骨骨折和畸形;CDR大于85%时,无新生骨骨折和畸形发生;两组间具有统计学意义(P<0.05).CDR是判断骨痂能否正常愈合较为理想的检测指标. 相似文献
139.
Assessment of long-term quality of life after laparoscopic and open surgery for Crohn''s disease 总被引:8,自引:0,他引:8
K. Thaler A. Dinnewitzer M. Oberwalder E. G. Weiss J. J. Nogueras S. D. Wexner 《Colorectal disease》2005,7(4):375-381
OBJECTIVE: Surgery for Crohn's disease (CD) is associated with a high recurrence rate and quality of life (QOL) in these patients is controversial. The aim of this study was to assess QOL in patients after laparoscopic and open surgery for CD by two different validated instruments, a generic nonspecific score and a specific gastrointestinal QOL index. PATIENTS AND METHODS: Patients with CD who underwent elective laparoscopic or open ileocaecal resection with primary anastomosis between 1992 and 2000 were followed for recurrence and surgery-related complications. QOL was assessed by the SF-36 Health Survey containing a mental (MCS) and a physical (PCS) component summary score and by the Gastrointestinal Quality of Life Index (GIQLI) developed by Eypasch. RESULTS: Thirty-seven patients with a mean age of 48.8 +/- 18.4 years including 23 females and 14 males were evaluated at a mean follow-up of 42.6 +/-25.8 months (minimum of 8 months). Twenty-one (57%) patients underwent laparoscopic resection and 16 (43%) open surgery. Both groups were well matched for age, gender, ASA class and body mass index. Fourteen (38%) patients developed recurrent disease and 3 (8%) had postoperative incisional hernias. Overall, QOL scores were 103 +/- 26.8 for the GIQLI, 47.2 +/- 11.8 for the PCS, and 49.2 +/- 11.5 for the MCS. The GIQLI correlated well with the SF36, correlation coefficient = 0.68 for GIQLI vs PCS (95% CI, 0.41,0.95) and 0.67 for GIQLI vs MCS (95%CI, 0.39, 0.95), respectively. When compared to the general US population, mean GIQLI scores (-13.8, P = 0.002) and mean PCS scores (-4.7, P = 0.001) were significantly lower in these patients than in healthy individuals. In a multivariate analysis of impact factors on QOL, recurrence within the follow-up period was the single significant determinant reducing the PCS (-35.1, P = 0.026) and the GIQLI (-36.1, P = 0.018). CONCLUSION: QOL is significantly reduced in patients with CD at long-term follow-up after both laparoscopic and open surgery. Recurrence is the only factor adversely affecting QOL of CD patients in remission irrespective of the operative technique applied. 相似文献
140.
Early assessment of renal resistance index after kidney transplant can help predict long-term renal function. 总被引:6,自引:0,他引:6
Angelo Saracino Giovanni Santarsia Angela Latorraca Vito Gaudiano 《Nephrology, dialysis, transplantation》2006,21(10):2916-2920
BACKGROUND: Color Doppler ultrasonography of intrarenal arterial resistance index (RI), performed early after kidney transplant, has proven to reliably predict short-term allograft function. The aim of this study was to assess whether it could also predict long-term renal function. METHODS: We retrospectively analysed 76 kidney transplant patients who underwent RI assessment within 1 month after the transplant, subdivided into two groups according to RI values, lower (group A) or higher (group B) than its median value (0.635). RESULTS: Compared with group A subjects, the patients of group B were older at the time of transplant (42 +/- 9 vs 35 +/- 8 years; P = 0.001), the donor age was also older (41 +/- 16 vs 33 +/- 13 years; P = 0.02) and had a slightly higher proteinuria (0.54 +/- 0.5 vs 0.32 +/- 0.2 g/24 h; P = 0.02). Serum creatinine, ciclosporin or tacrolimus trough level, arterial blood pressure, number of human leukocyte antigen (HLA) mismatches, anti-hypertensive medications and incidence of delayed graft function were not significantly different between the two groups. By univariate analysis, RI turned out to directly correlate with the recipient age, donor age and daily proteinuria (P = 0.007, P = 0.0007 and P = 0.02, respectively). Multivariate analysis showed that only donor and recipient age maintained their independent predictive value on RI. Kaplan-Meier analysis, considering a serum creatinine increase >50% as the endpoint of the study, showed a statistically significant different graft survival in the two groups (log-rank test = 5.489; P = 0.01). The univariate relative risk of deterioration of graft function among patients with higher RI was 3.77. Proteinuria and recipient age increased the risk as well. CONCLUSIONS: Our data seem to suggest that early determination of RI can help predict long-term graft function in kidney transplant recipients. 相似文献