不宁腿综合征遗传学研究进展

不宁腿综合征(Restless legs syndrome, RLS)遗传学研究近年来获得了许多重要的进展, 极大地丰富了对于这种疾病分子机制的认识。RLS是一种常见的复杂疾病, 几个遗传流行病学和双生子研究对RLS遗传组分进行了剖析, 说明RLS是一个遗传性很强的性状, 其遗传力约为50%。采用基于模型的连锁分析方法或者是不依赖于模型的连锁分析方法目前已定位了5个重要的RLS疾病连锁位点: 12q13-23, 14q13-21, 9p24-22, 2q33和20p13, 为定位克隆RLS致病基因或者易感基因提供了连锁图谱。最新基于高通量的SNPs分型平台开展的全基因组分析确立3个与RLS显著关联的区域: 6p21.2, 2p14和15q23。文章结合作者近年来从事不宁腿综合征遗传学的研究工作, 对该领域的重要成果进行了汇总和评述。     

Low-molecular-weight heparin and prevention of postoperative deep vein thrombosis.

The efficacy of low-molecular-weight heparin as a prophylactic agent was assessed in 150 consecutive patients over the age of 40 undergoing major abdominal surgery. Fifty of these patients received 1250 activated partial thromboplastin time (APTT) units of low-molecular-weight heparin every 12 hours: three developed isotopic deep vein thrombosis, which was confirmed by phlebography in two cases. The other 100 patients received a single injection of 1850 APTT units of low-molecular-weight heparin. Three of them developed isotopic deep vein thrombosis; phlebography failed to confirm the presence of thrombi in each case. None of the 150 patients studied died from fatal or contributory pulmonary emboli. Low-molecular-weight heparin was not associated with any increase in preoperative or postoperative bleeding. The effect of equal amounts of postoperative bleeding. The effect of equal amounts of low-molecular-weight heparin and unfractionated heparin on the coagulation mechanism during surgery was investigated in another 30 patients. The clotting assays and results of in-vivo platelet function tests indicated that both preparations produced similar effect. Intragroup comparisons, however, showed significant differences in the anti-factor Xa activity, lipoprotein lipase release, and plasma prekallikrein concentrations. A single injection of low-molecular-weight heparin daily is a convenient way of preventing deep vein thrombosis in high-risk patients undergoing major abdominal surgery.     

Strain-gauge plethysmography in the evaluation of the evolution of deep vein thrombosis of the legs

Previous research has shown that MVO (Maximum Venous Outflow), VR (Venous Reflux), VE (Venous Emptying) and the respiratory waves recording are useful in differentiating occlusion and recanalization in postphlebitic syndrome. In the present work strain-gauge plethysmography was employed to quantitate the venous function after deep venous thrombosis of the legs. The studies were performed in a vascular laboratory with controlled temperature (23 to 25 C); records were obtained by a plethysmograph Parks mod. 270 connected to a Hewlett-Packard multi-channel mod. 7700. 17 patients (12 males, 5 females), mean age 55 years (range 24-75) that presented femoropopliteal thrombophlebitis documented by phlebography at the admission to the hospital were examined. MVO with and without superficial veins occlusion was measured by a mercury in silastic strain-gauge placed circumferentially about the calf. A pneumatic cuff thigh was inflated to 60 mm Hg. VE was measured in patients lying in inclined bed with the lower extremities 100 cm below the heart level compressing the calf with a pneumatic cuff 10 times for 5 seconds; the strain-gauge was placed on the foot level. VR after Valsalva's maneuver and the respiratory waves were recorded by a strain-gauge positioned at the maximum girth about the calf in patients lying on inclinated bed with the lower extremities 50 cm below the heart level. The result are here indicated: (Table: see text) There was differences in the evolution of venous function after deep venous thrombosis of the legs for each patient. Strain-gauge plethysmography may become evaluable non invasive technique in the evaluation of deep venous thrombosis evolution in the legs. The therapeutic assessment of postphlebitic syndrome.     

Algorithms for the diagnosis and treatment of restless legs syndrome in primary care

Background

Restless legs syndrome (RLS) is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common.

Methods

The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless Legs Syndrome Study Group (EURLSSG)-sponsored task force consisting of experts and primary care practioners. The task force sought to develop a better understanding of barriers to diagnosis in primary care practice and overcome these barriers with diagnostic and treatment algorithms.

Results

The barriers to diagnosis identified by the task force include the presentation of symptoms, the language used to describe them, the actual term "restless legs syndrome" and difficulties in the differential diagnosis of RLS.

Conclusion

The EURLSSG task force reached a consensus and agreed on the diagnostic and treatment algorithms published here.     

Neurological disorders: towards a mechanistic understanding of restless legs syndrome

Restless legs syndrome is a curious neurological disorder of unknown aetiology. A new study has found that Drosophila mutants in the fly homologue of a human gene, BTBD9, that has been implicated as a risk factor for restless legs display important features of the syndrome.     

Prevalence of restless legs syndrome in pregnant women: a meta-analysis

Sleep and Biological Rhythms - Restless legs syndrome is a neuromotor problem which is more common among pregnant women. Several studies have reported different prevalences for this disorder....