Haplotype analysis in gelsoiin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan

Familial amyloidosis, Finnish type (FAF) (gelsolin-related amyloidosis) is an autosomal dominant form of systemic amyloidosis characterized by corneal lattice dystrophy and peripheral polyneuropathy. The accumulating protein in FAF consists of fragments of gelsolin, an actin-modulating protein. The gelsolin mutation G654A has been found in both Finnish and Japanese patients. To study the origin of the gelsolin mutation in these patients we performed haplotype analysis in 10 Finnish and 2 Japanese FAF families. Poymorphic DNA markers GSN, D9S103, AFMa061xd9, and AFMa139xb9 revealed a uniform disease haplotype in all the disease-associated chromosomes of the Finnish FAF families, which was different from the one observed in the Japanese families. The present results and the previously detected gelsolin mutation G654T in Czech and Danish FAF patients suggest that nucle otide 654 may represent a mutation hot spot in the gelsolin gene. The DNA markers studied here will be useful in future genealogical analyses of FAF. © 1995 Wiley-Liss, Inc.     

Description of Heart-Rate Variability Data in Accordance With a Physiological Model for the Genesis of Heartbeats

A survey is presented of techniques which transform heart-rate variability data into a signal that is both visually informative and accessible for analysis. The Instantaneous Heart-Rate (IHR) signal is introduced, i.e. the signal having the value of the heart rate (inverse interbeat interval) during the interval concerned. The IHR signal differs from the standard Delayed Heart-Rate (DHR) signal, which is always one beat late. The relationship is discussed between the different representation methods and the Integral Pulse Frequency Modulation (IPFM) model, the latter being a physiologically plausible model for the transformation of a continuous input signal (e.g., nervous influence on the cardiac pacemaker) into a series of events (heartbeats). It is shown that when the IHR signal is used as input of the IPFM model, the event series from which the signal was derived appears at the output. Hence, if the IPFM model is accepted as a model of the pacemaker, the IHR signal may be considered as an approximation of the neural (sympathetic and parasympathetic) influence on the pacemaker. In addition we show that the appearance of the IHR signal is less affected by trigger errors or extrasystoles than the standard DHR signal. It is concluded that the most attractive time-domain representation of physiological event series consists of the IHR signal, because this signal, being conceptually and computationally simple, is consistent with the IPFM model.     

842例工人、农民和战士最大呼气流量-容积曲线的测定

作者用“点值法”对成都市内和郊区842例从事轻、中、重劳动的健康工人、农民和战士作了MEFV曲线和常规肺功能测定,发现工人和农民在低肺容积时流量增加,在高、中肺容积时流量下降,并以农民最明显,重劳动工人次之,轻、中劳动工人较不明显,战士则相反。揭示不同的体力活动方式及生活条件可导致不同肺容积时的流量改变,以适应其代谢增强时的耗氧需求。     

Point-of-care measured serum cholinesterase activity predicts patient outcome following severe burns

Risk stratification is of utmost importance in burn therapy. However, suitable bedside biomarkers to evaluate the emerging inflammatory response following burn injuries are missing. Serum cholinesterase (butyrylcholinesterase, BChE) has been shown to be a clinically relevant biomarker in acute inflammatory diseases including burns.In this observational cohort study BChE activity was measured by using point-of-care testing (POCT), a novel method in acute burn care. POCT measurements were performed at emergency room admission (ERA) of 35 patients and repeated 12, 24 and 48 h later. All patients or their legal designees gave informed consent.Patients with burn injuries showed sustained BChE activity reduction following hospital admission. BChE activity correlated negatively with burn injury severity, organ failure severity and intensive care unit resource requirements. BChE activity measured at ERA and 12 h later identified survivors and predicted 28-day patient outcome with noninferior efficacy compared to the abbreviated burn severity index (ABSI) scoring. Finally, POCT-measured BChE activity might complement ABSI scoring and possibly improve early risk stratification in acute burn care therapy.     

基于点云数据的髋臼置钉通道全局优化

针对髋臼前后柱置钉通道多截面调控规划法的不足,该研究提出了基于大密度点云数据、相关理论、软件内置功能及自编程序的规划方法,实现了对置钉通道总长的全局优化,同时进行了基于7截面、11截面调控规划法以及点云数据的前柱最大内接圆柱体虚拟置钉实验,分析了实验结果及形成机理,验证了基于点云数据规划法的全局优化效果,但对多截面调控规划法的调控有效性表示还存有疑问,此外,还对基于点云数据的髋臼置钉通道规划方法应用的相关原理和操作技巧作了简略介绍。     

The diagnostic accuracy of rapid diagnostic tests for Ebola virus disease: a systematic review

BackgroundEbola virus disease (EVD) is a dangerous condition that can cause an epidemic. Several rapid diagnostic tests (RDTs) have been developed to diagnose EVD. These RDTs promise to be quicker and easier to use than the current reference standard diagnostic test, PCR.ObjectivesTo assess the diagnostic accuracy of RDTs for EVD.MethodsA systematic review of diagnostic accuracy studies.Data sourcesThe following bibliographic databases were searched from inception to present: MEDLINE (Ovid), Embase, Global Health, Cochrane Central Register of Controlled Trials, WHO Global Index Medicus database, Web of Science, PROSPERO register of Systematic Reviews, and Clinical Trials.Gov.Study eligibility criteriaDiagnostic accuracy studies.ParticipantsPatients presenting to the Ebola treatment units with symptoms of EVD.InterventionsRDTs; reference standard, RT-PCR.Assessment of risk of biasQuality Assessment of Diagnostic Accuracy Studies-2 tool.Methods of data synthesisSummary estimates of diagnostic accuracy study were produced for each device type. Subgroup analyses were performed for RDT type and specimen material. A sensitivity analysis was performed to assess the effect of trial design and bias.ResultsWe included 15 diagnostic accuracy studies. The summary estimate of sensitivity for lateral flow assays was 86.1% (95% CI, 86–86.2%), with specificity of 97% (95% CI, 96.1–97.9%). The summary estimate for rapid PCR devices was sensitivity of 96.2% (95% CI, 95.3–97.9%), with a specificity of 96.8% (95% CI, 95.3–97.9%). Pre-specified subgroup analyses demonstrated that RDTs were effective on a range of specimen material. Overall, the risk of bias throughout the included studies was low, but it was high in patient selection and uncertain in the flow and timing domains.ConclusionsRDTs possess both high sensitivity and specificity compared with RT-PCR among symptomatic patients presenting to the Ebola treatment units. Our findings support the use of RDTs as a ‘rule in’ test to expedite treatment and vaccination.     

神阙穴贴药对原发性骨质疏松症超声穿透速度的影响

目的：观察神阙穴贴补血益精透皮贴剂，对原发性骨质疏松症超声穿透速度（SOS）的影响。方法：选择原发性骨质疏松症患者130例。分4组治疗。即补血益精透皮贴剂组（A组），西药对照组（B组），补血益精药丸组（C组），空白对照组（D组）。结果：补血益精透皮贴剂组能显著提高超声穿透速度。结论：补血益精透皮贴剂组与补血益精药丸组和西药对照组对原发性骨质疏松症的调整作用基本一致。为治疗原发性骨质疏松症提供了一种新的方法。     

面口合谷收的形态学基础

目的：探讨合谷穴与口面部联系的形态学基础。方法：采用荧光素单标记和双标记法，将荧光素碘化丙啶（PI）和双苯甲亚胺（Bb)分别注入“合谷”穴区和“四白”穴区，取同侧脊神经节颈1-颈8，胸1-胸2，颈上，中，下交感节及三叉神经半月节，荧光显微镜下观察计数。结果：在脊神经节颈5-颈8观察到大量PI单标记细胞，主要分布于颈6-颈7，在三叉神经半月节也可见大量Bb单标记细胞，另外在三叉神经半月节可见少量PI-Bb以标记细胞，占标记细胞的4.5%。结论：三叉神经半月节有向“合谷”穴和“四白”穴的分支投射，这可能是“面口合谷收”的形态学基础。     

督脉穴为主治疗帕金森病临床分析

目的探讨针刺配合药物治疗帕金森病的可行性.方法针刺配合口服常规西药剂量的一半与常规西药剂量治疗进行对照研究.结果两组治疗前后差异均有非常显著性意义(P＜0.01),而两组治疗后比较,差异无显著性意义.结论针刺督脉穴为主治疗帕金森病有良好的疗效.