Modelling Germline Mosaicism and Different New Mutation Rates Simultaneously for Appropriate Risk Calculations in Families with Duchenne Muscular Dystrophy

For several genetic diseases two biological phenomena have been recognised as important: germline mosaicism; and different new mutation rates in males and females depending on mutation type. Both principles have been investigated separately and their influence on risk estimation in families has been exemplified in the literature. The aim of this paper is to present a general model that includes mosaicism and different new mutation rates. Mosaicism is introduced by defining additional alleles at the disease locus in combination with adapted segregation rules. Taking Duchenne muscular dystrophy as an example, we derive the conditions which have to be fulfilled for a population in mutation selection equilibrium. Our approach describes the model at the population level and not in individual subjects. This has the advantage of being able to use well known algorithms for the calculation of likelihoods in pedigrees, and to include additional diagnostic information such as marker genotypes and carrier deletion test results. We demonstrate the impact of the new model on a typical pedigree. In families where the patient is not available, the distinction between point mutations and deletions is important, since often molecular diagnostic tests for females can only screen for deletions. Negative deletion test results can now be included in the risk calculations.     

Psychiatric patients and their response to experimental stress

Serum levels of Epinephrine (E), norepinephrine (NE), heart rate (HR), skin conductance reaction (SCR) and skin conductance level (SCL) were measured in schizophrenic, endogenous depressed and anxiety patients as well as in normal controls. Conditions were rest, noise and a mental arithmetic (MA) task. Schizophrenic and depressed patients had an attenuated HR response to MA. Moreover, Schizophrenic patients also had higher NE base level and the highest NE secretion during noise. Anxiety and depressed patients showed significantly lower phasic electrodermal activity (SCR) throughout the whole trial, exclusively anxiety patients had significantly higher tonic electrodermal activity (SCL). These findings indicate that autonomous reactions discriminate between patient groups and controls as well as between each other.     

第一产程胎心监护异常226例的相关因素分析

目的探讨第一产程胎心监护异常的相关因素，提示处理措施。方法2004年1月1日。12月31日对我院226例第一产程胎心监护异常的相关因素进行回顾性分析。结果第一产程胎心监护异常为综合因素所致，胎儿高危因素为91.59％，母体高危因素为65．49％，产程处理因素为42．92％。结论第一产程胎心监护异常主要与胎儿因素、母体因素有关，提高产前检查质量、加强产程监护、正确选择分娩方式极为重要。     

Just-in-Time Evidence-Based E-mail “Reminders” in Home Health Care: Impact on Patient Outcomes

OBJECTIVE: To assess the impact and cost-effectiveness of two information-based provider reminder interventions designed to improve self-care management and outcomes of heart failure (HF) patients. DATA SOURCES/STUDY SETTING: Interview and agency administrative data on 628 home care patients with a primary diagnosis of HF. STUDY DESIGN: Patients were treated by nurses randomly assigned to usual care or one of two intervention groups. The basic intervention was an e-mail to the patient's nurse highlighting six HF-specific clinical recommendations. The augmented intervention supplemented the initial nurse reminder with additional clinician and patient resources. DATA COLLECTION: Patient interviews were conducted 45 days post admission to measure self-management behaviors, HF-specific outcomes (Kansas City Cardiomyopathy Questionnaire-KCCQ), health-related quality of life (EuroQoL), and service use. PRINCIPAL FINDINGS: Both interventions improved the mean KCCQ summary score (15.3 and 12.9 percent, respectively) relative to usual care (p< or =.05). The basic intervention also yielded a higher EuroQoL score relative to usual care (p< or =.05). In addition, the interventions had a positive impact on medication knowledge, diet, and weight monitoring. The basic intervention was more cost-effective than the augmented intervention in improving clinical outcomes. CONCLUSIONS: This study demonstrates the positive impact of targeting evidence-based computer reminders to home health nurses to improve patient self-care behaviors, knowledge, and clinical outcomes. It also advances the field's limited understanding of the cost-effectiveness of selected strategies for translating research into practice.     

玉溪市2004年女职工普查结果分析

目的：为了解女职工患妇女病现状，充分认识普查普治必要性。方法：对玉溪市部分女职工进行常规妇科检查、白带多项快染、宫颈荧光筛查、乳腺红外线扫描。结果：女职工患病率74．54％，阴道炎患病率18．67％，宫颈糜烂患病率21，04％，子宫肌瘤占受检人数10．79％，慢性输卵管炎占9．60％，卵巢囊肿占4．3％，乳腺小叶增生患病率为26．86％，乳腺纤维瘤占0．43％，IF荧光宫颈癌筛查3-4分占8．33％。结论：女职工患病率高，提高宣传力度，定期开展妇女病普查普治尤为必要。     

稳定性核素测定大鼠小肠蛋白质合成

目的：建立稳定性核素（[L-^15N]亮氨酸）测定大鼠小肠蛋白质合成率的方法。方法：分别测定静脉注射相同剂量[L-^15N]亮氨酸不同时相的大鼠小肠^15N丰度及不同剂量[L-^15N]亮氨酸同一时相的大鼠小肠^15N丰度。结果：大鼠小肠游离氨基酸池中^15N核素丰度在注射后0．5h内呈线性上升并达高峰，维持4h后缓慢下降，小肠蛋白质中的^15N丰度0．5h至12h基本维持不变；随着注射剂量的增加，大鼠小肠蛋白质分数合成率（FSR）亦增加，当[L-^15N]亮氨酸剂量在1．0mmol／kg以上，FSR并不随施加[L15N]亮氨酸剂量的加大而增加。结论：在进行大鼠小肠蛋白质合成率测定时，一次性静脉注射的测量最佳时限为0．5h，剂量为1．0mmol／kg。     

保留冠状动脉的猪心螺旋形心室肌带的解剖

Objective Based on the Helical Ventricular Myocardial Band (HVMB) theory proposed by Torrent-Guasp,the ventricular myocardial hand extends from the root of the pulmonary artery to the root of the aorta with two helical coils.This new theory is considered as a revolutionary concept for further understanding the global, three-dimensional and functional architecture of the ven- tricular myocardium. No repot had described techniques for disecting HVMB while keepin～ the integrity of the coronmy artery sys- tern. We explored techniques for dissecting HVMB in swine.Methads 33 fresh swine hearts were randomly divided intoll groups, 3 bearts in each. 160% barium sulfate (type I)suspmmion was injected into the coronary artery system. The coronary arteries were li- gated. The strial tissue was removed following puuing the hearts in boiling water then cooling for several hours. The superficial coro- nary vessels and fat tissue around the atrio-ventricular taxi inter-ventricular sulcus we～'e preserved. Some branches of the left anterior descending artery, distal segment, of posterior descending branch, and middle and distal segment of obtuse marginal branches were mu- tilated appropriately. HVMB dissection was completed with fingers in accordnce with Torrent Guasp' s technique. Results A contin- ued bundle of muscle, originated at the root of pulmonary artery and ended at the root of aorta, was unwrapped along the major dire- tion of the cardiac muscle fiber in all of the 33 hearts with spating of the coronary artery. The swine hearts' ventricular myocandium was cumosed of two loops, with basal loop firm the root of the pulmonart artery to the anterior papillary muscle and apical from the beginning of the anterior papillary muscle to the root tithe aorta. Each loop consisted of two segments: the right segment-coincid- ing with the right ventricular free wall and the left segment-coinciding with the basal d the left ventricular free wall. Posterior papillary muscle, which belongs to the descendant segment, denmrcated the border between the descendent and the ascendant of the HVMB's apical loop. Conclusion Although controversies about the theory of the HVMB remain, we have dissected the HVMB in the swine hearts' ventricular myocardium successfully with sparing of the coronary artery systems. This dissection procedure provides technical information for the studies of associated diseases based on the theory of HVMB.     

老年心力衰竭患者外周血红细胞膜脂流动性的变化及与心功能的相关性

目的观察红细胞膜脂流动性（LFU）在老年充血性心力衰竭（CHF）中的变化及其意义。方法选择CHF患者40例,正常对照者30例,用荧光分光光度计偏振技术测定外周血红细胞LFU。结果CHF组红细胞LFU明显低于正常对照组（P<0.01）;心功能越差,LFU越低（P<0.05和P<0.01）。结论红细胞LFU在一定程度上反映了CHF程度。