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111.
112.
A chromosomal breakage syndrome with profound immunodeficiency 总被引:5,自引:0,他引:5
The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than in any of the mentioned disorders. As of November 1985, the patient remains clinically free of malignancy. At age 18, the patient's weight was 22.6 kg (50th percentile for seven years), height was 129 cm (50th percentile for eight years), and head circumference was 42 cm (50th percentile for six months). Laboratory studies demonstrated a marked decrease in both B and T cell number and function. The peripheral blood contained 400 to 900 lymphocytes/microL with 32% T11 cells, 17% T4 cells, and 21% T8 cells. The proliferative responses to phytohemagglutinin (PHA), pokeweed mitogen, and concanavalin A were less than 10% of control. There were 1% surface IgM positive cells, and serum IgG was 185 mg/dL, IgM 7 mg/dL, IgA 5 mg/dL. In lymphocyte cultures stimulated with the T cell mitogens PHA, phorbol ester, and interleukin 2, 55% of the banded metaphases demonstrated breaks or rearrangements. The majority of the breaks involved four fragile sites on chromosomes 7 and 14, 7p13, 7q35, 14q11, and 14q32. These are the sites of the genes for the T cell-antigen receptor and the immunoglobulin heavy chain and are sites of gene rearrangement in lymphocyte differentiation. Epstein-Barr virus stimulated B cells and fibroblast cultures also demonstrated a high incidence of breaks, but the sites were less selective. These findings suggest that the sites of chromosomal fragility in the chromosomal breakage syndromes may be informative and that factors other than the severity of the immunodeficiency or the high incidence of chromosomal damage may contribute to the occurrence of malignancy in the chromosomal breakage syndromes. 相似文献
113.
Keong WONG 《北京大学学报(医学版)》2009,41(4)
During pregnancy, a unique and dramatic sequence of events occurs, defining the most remarkable transformation of a single cell into a recognizable human being. Uhrasonographic examination is play a important role for prevention of fetal birth defect. For some years, there have been dramatic advances in ultrasound technology, including improved spatial and contrast resolution, three-dimensionaland four-dimenstional imaging, harmonic imaging, new and improved ultrasound sanning probes, and improved digital review workstations, to name a few. Likewise, our knowledge of normal fetal anatomy and pathology, and the pathophysiology of disease have increased substantially. The internet has made communication among researcheres earier. There have been many collaborative studies and refinements of the guidelines for the performance of the obstetric ultrasound examination. But there are still some differences in the approach to the obstetric ultrasound examination from one group to the others. Some issues such as what constitutes a basic ultrasound examination, what structure should be perform and interpret the examination, how safe is ultrasound, how should it be recorded and documented, how should it be reported,and how accurate rate of diagnosis fetal congenital malformation. In conclusion is that, the appeal of the ultrasound examination is that it is a noninvasive, safe procedure that has a high degree of patient acceptance and can yield a wealth of information. It is always a delight to examine the obstetric patient and reassure her about her pregnancy, when appropriate. However, there are times when an abnormality is strongly suspected but it may be equivoal or may not fit into a specific category. Under these circumstances, the best pathway for the sonologist to is to do a follow-up examination and seek consultation. If time does not allow a follow-up examination, then the sonologist should communicate to the referring physician and the patient that a definiitve answer is not possible and that decisions will have to be made with less-than-perfect information. 相似文献
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The importance of differences in clinical characteristics between ethnic groups on operative mortality of coronary artery bypass grafting (CABG) has not been clarified. Data reporting to the California CABG outcomes reporting program is mandated under state law in California. Data from 121 hospitals in 2003 were analyzed, including clinical characteristics and predicted and observed operative mortalities in patients who underwent isolated CABG. In total 21,272 isolated CABGs were reported in 2003. Compared with Caucasians (n = 15,069), Hispanics (n = 2,561), Asians (n = 1,772), and African-Americans (n = 785) were younger, more likely to be women, and had more hypertension, diabetes, renal failure, and severe liver disease (all p values <0.05). Hispanics had more heart failure and Asians had a lower body mass index compared with Caucasians, whereas African-Americans had a higher body mass index and more peripheral artery disease and heart failure (all p values <0.05). Based on a multivariate model, the predicted operative mortality for Hispanics (3.2%), Asians (3.3%), and African-Americans (3.6%) was higher (all p values <0.001) than that of Caucasians (2.8%). However, observed operative mortality was similar across ethnic groups, although there was a trend toward higher mortality in Asians compared with Caucasians (3.5% vs 2.8%, p = 0.077). In conclusion, significant differences in risk profile for CABG exist across ethnicities. Although the predicted operative mortality for Hispanics, Asians, and African-Americans was significantly higher than that for Caucasians, there was no significant difference in the observed operative mortality. 相似文献
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118.
Vikas K Rathi Mark Doyle June Yamrozik Ronald B Williams Ketheswaram Caruppannan Craig Truman Diane Vido Robert WW Biederman 《Journal of cardiovascular magnetic resonance》2008,10(1):36
Background
Cardiovascular magnetic resonance (CMR) has excellent capabilities to assess ventricular systolic function. Current clinical scenarios warrant routine evaluation of ventricular diastolic function for complete evaluation, especially in congestive heart failure patients. To our knowledge, no systematic assessment of diastolic function over a range of lusitropy has been performed using CMR.Methods and Results
Left ventricular diastolic function was assessed in 31 subjects (10 controls) who underwent CMR and compared with Transthoracic echocardiogram (TTE) evaluation of mitral valve (MV) and pulmonary vein (PV) blood flow. Blood flow in the MV and PV were successfully imaged by CMR for all cases (31/31,100%) while TTE evaluated flow in all MV (31/31,100%) but only 21/31 PV (68%) cases. Velocities of MV flow (E and A) measured by CMR correlated well with TTE (r = 0.81, p < 0.001), but demonstrated a systematic underestimation by CMR compared to TTE (slope = 0.77). Bland-Altman analysis of the E:A ratio and deceleration time (DT) calculated from each modality showed excellent agreement (bias -0.29, and -10.3 ms for E:A and DT, respectively). When assessing morphology using TTE, CMR correctly identified patients as having normal or abnormal inflow conditions.Conclusion
We have shown that there is homology between CMR and TTE for the assessment of diastolic inflow over a wide range of conditions, including normal, impaired relaxation and restrictive. There is excellent agreement of quantitative velocity measurements between CMR and TTE. Diastolic blood flow assessment by CMR can be performed in a single scan, with times ranging from 20 sec to 3 min, and we show that there is good indication for applying CMR to assess diastolic conditions, either as an adjunctive test when evaluating systolic function, or even as a primary test when TTE data cannot be obtained. 相似文献119.
120.
Effie Z. Chen Nicki A. Dowling Keong Yap 《International journal of mental health and addiction》2012,10(2):231-242
This study was designed to examine the relationship between gambling behaviour (gambling frequency and problem gambling severity)
and financial management practices (cash management, risk management, and general management), financial management attitudes,
and money attitudes (materialism, achievement, budget, obsession, and anxiety) in a sample of 118 participants (45 males,
73 females) recruited from a university. The findings revealed that gambling frequency was not significantly associated with
any financial management, financial attitude, or money attitude variable but that problem gambling severity was significantly
positively associated with financial management attitudes and obsession and negatively associated with budget. However, problem
gambling severity scores were no longer significantly correlated with these factors after controlling for demographic and
socio-economic factors. It was concluded that future research evaluating multiple dimensions of practices and attitudes with
reliable and valid standardised instruments in large community or clinical samples is required in order to design cognitive
interventions for problem gambling that facilitate changes in general beliefs about the importance of money. 相似文献