Le syndrome de Smith-Magenis

Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly; aberrant behavior and major sleep problems are present in 70% of the cases. It is probably under-diagnosed because the facial abnormalities are mild and the behavioral problems with hyperactivity and self-injuries are dominant, leading to the diagnosis of psychiatric pathology. However these behavioral problems are sufficiently characterized to allow the diagnosis of the syndrome and look for a 17p11.2 microdeletion. Otorhinolaryngologic, ophtalmologic, cardiac and renal abnormalities can be associated and their evaluation is necessary. Smith-Magenis syndrome is considered as a contiguous gene syndrome. Genes have been mapped and isolated to the critical region, but their participation in the pathogenesis of the syndrome remains unclear.     

Effects of increased consumption of fluid milk on energy and nutrient intake, body weight, and cardiovascular risk factors in healthy older adults

OBJECTIVE: To assess the impact of increased consumption of milk, without other dietary advice, on older adults' energy and nutrient intakes, weight, cardiovascular risk factors (blood pressure, plasma lipid levels), and quality of life. SUBJECTS/SETTING: Two hundred four healthy men and women, aged 55 to 85 years, who consumed fewer than 1.5 dairy servings per day were chosen from six US academic health centers. DESIGN: Randomized, controlled open trial. INTERVENTION: Advice to increase skim or 1% milk intake by 3 cups per day (n = 101) or to maintain usual diet (n = 103) for 12 weeks after a 4-week baseline period. MAIN OUTCOME MEASURES: Changes in energy and nutrient intake assessed from 3-day food records, body weight, blood pressure, and plasma lipid levels. STATISTICAL ANALYSES PERFORMED: Group-by-time analysis of variance with repeated-measures, chi 2 test. RESULTS: Compliance with the intervention was good. Compared with controls, participants in the milk-supplemented group significantly increased energy, protein, cholesterol, vitamins A, D, and B-12, riboflavin, pantothenate, calcium, phosphorus, magnesium, zinc, and potassium intakes. Prevalence of nutrient inadequacy, assessed for nutrients with Estimated Average Requirements, decreased among women in the milk group for magnesium (40% at baseline vs 13% at 12 weeks, P < .001) and vitamin B-12 (6% vs 0%, P < .05) and tended to decrease (P < .10) for protein and thiamin (women) and magnesium and vitamin B-6 (men). The milk group gained 0.6 kg more than control group (P < .01); however, weight gain was less than predicted, which suggests some compensation for the added energy from milk. Blood pressure decreased similarly over time in both groups. Total and low-density lipoprotein cholesterol levels, and the ratio of total cholesterol to high-density lipoprotein cholesterol, were unchanged. Triglyceride levels increased within the normal range in the milk group (P = .002). Quality of life scores were high at baseline and remained high throughout. APPLICATIONS/CONCLUSIONS: Older adults can successfully increase milk intake, thereby meaningfully improving their nutrient intakes. Dietitians can play a key role in disseminating this advice.     

丹参酮对2型糖尿病高C反应蛋白的作用

目的　评价丹参酮对2型糖尿病高C反应蛋白(CRP)的作用。方法　将5 2例2型糖尿病CRP增高患者随机分2组各2 6例,均予常规降糖治疗,治疗组加服丹参酮4片/次,每天3次。共治疗3个月,比较2组治疗前及治疗后CRP水平。结果　治疗组CRP下降较对照组明显,P <0 .0 5。结论　丹参酮可明显降低CRP水平,可抑制2型糖尿病炎症反应。     

海尔福口服液驱铅效果的实验研究

目的观察中药海尔福口服液降低铅染毒小鼠血铅含量的效果。方法将80只雄性35 d昆明种小鼠分成4组:海尔福口服液组,大蒜提取物组,中毒不治疗组,正常对照组。以醋酸铅水溶液腹腔注射造模,2周后用中药海尔福口服液和大蒜提取液进行驱铅治疗,测定实验前、后小鼠体质量和血红蛋白(Hb)含量,检测实验后小鼠血铅含量。结果海尔福口服液组和大蒜提取物组小鼠的体质量和Hb含量比中毒不治疗组升高,血铅含量比中毒不治疗组明显降低。结论中药海尔福口服液具有驱铅功效。     

不同复方丹参片(滴丸)紫外吸收光谱的相关分析

目的:评估UV吸收光谱在复方丹参片(滴丸)的鉴别和质量控制中的价值。方法:利用紫外分光光度计扫描不同厂家的复方丹参片、滴丸,以及其他不同品种中成药的UV吸收光谱(以水为溶剂)。对药物的UV吸收光谱进行相关分析,得到各产品之间的相互关系表,并依据表中的Pearson相关系数(R)和ΔR(Pearson's R与它的镜像位置值的绝对差值)对光谱的相似性进行比较。结果:相同厂家不同批号产品之间的UV吸收光谱的R=0.997～0.9999,光谱相似性极高;而不同厂家产品之间的R=0.92～0.997,ΔR<0.02,光谱相似性较高;与复方丹参片(滴丸)的UV吸收光谱相比,其他中成药光谱的R=0.25～0.98,ΔR>0.02,光谱相似性低。结论:UV吸收光谱可以用于复方丹参片(滴丸)的鉴别和质量控制。     

葛根素对大鼠急性脑缺血损伤Hsp70表达的影响

目的:探讨葛根素对大鼠急性脑缺血损伤Hsp70表达的影响。方法:采用闭夹大脑中动脉造成局部脑缺血模型,对脑组织用免疫组化SP法作Hsp70染色,观察其Hsp70表达情况。结果:葛根素干预组Hsp70表达强度显著强于单纯缺血组(P<001)。结论:葛根素有上调大鼠急性脑缺血损伤时Hsp70表达的作用。     

三七总皂苷抗心肌肥大的作用与其影响神经体液因素的关系

目的:通过研究三七总皂苷(Panax notoginseng saponins,PNS)对大鼠整体和离体模型心肌肥大的影响,探讨PNS对心肌肥大的作用机制。方法:用腹主动脉缩窄法建立大鼠整体心肌肥大模型,PNS腹腔注射给药,持续3周后,测大鼠收缩压(SBP)、全心重量/体重(HW/BW)、左室重量指数(LVI)、左室心肌纤维直径(MD);用去甲肾上腺素(NE)诱导培养的新生大鼠心肌细胞制作离体心肌肥大模型,给PNS72h后,测定细胞表面积和蛋白质含量。结果:PNS浓度依赖性地抑制腹主动脉缩窄大鼠HW/BW,LVI,MD的增加,但不能显著降低大鼠SBP;0.1-0.5g·L^-1PNS可显著抑制NE诱导的心肌细胞表面积和蛋白质含量的增加,P<0.01。结论:PNS能抑制大鼠整体和离体2种模型心肌肥大,其作用机制不是通过降低压力负荷.而是与拮抗神经体液因素NE的作用有关。     

不同内耳畸形人工耳蜗植入效果分析

目的 就不同内耳畸形人工耳蜗植入特点及效果进行分析,积累经验。方法 1996年1月～2004年5月北京同仁医院共开展多道人工耳蜗植入术410例(410耳),对其中双侧内耳畸形患者82例(82耳)进行回顾性分析,就不同原因内耳畸形的人工耳蜗植入手术特点及术后开机调试特点与耳蜗形态正常的人工耳蜗植入者进行了比较。结果 ①所有内耳畸形患者人工耳蜗植入术后都有听觉;②内耳畸形人工耳蜗术中容易出现井喷;③82例中除2例患者各遗留2对蜗外电极外,其余电极均完全植入蜗内;④术后无面瘫、脑脊液漏等并发症;⑤术后开机调试数值与结构正常植入者接近,无统计学差异(P>0.05);⑥术后经过语训,1年后听力及言语能力均有不同程度的提高。结论 伴有内耳发育畸形的深度感音性聋患者可以行人工耳蜗植入手术,植入效果与耳蜗发育正常患者的人工耳蜗植入效果基本一致,人工耳蜗植入术可以作为伴有内耳畸形的深度感音性聋患者的治疗和康复手段。     

学龄儿童β3-肾上腺素能受体基因变异的分布

目的 了解学龄儿童中β3-肾上腺索能受体（β3-AR)基因氧基酸序列第64位密码子上的色氨酸(Trp64Arg)变异型的分布特点及其与肥胖的关系，方法 用限制性片段基困长度多态性法对177名儿蛊进行了基因多态性检测，同时测量身高、体重。结果 变异型等位基因(C)在被调查对象中出现的频率为0．240，其中男童为0226，女童为0．267。肥胖女童中变异等位基因(C)、Trp64Arg变异基因型的出现频率明显高于正常体重者。有父母肥胖或有母亲肥胖的家庭中，女童出现Trp64Arg变异的频率分别为713．3％，71．4％。具有Trp64Arg变异儿童的体重、BM1明显较高，具有Trp64Arg变异的女童发生肥胖的危险性为4．5，结论 基因Trp64Arg变异在学龄儿童中有一定的分布，且以肥胖女童为多。     

呼吸机相关性肺炎病原菌分布特点及变迁

目的了解近10年来我科监护病房呼吸机相关性肺炎病原菌分布的特点及变迁，为临床抗感染药物的正确应用提供参考资料。方法对1992年10月～2003年1月，VAP患者痰培养病原学及药敏结果进行回顾性分析。结果在近10年来RICU的VAP发生率为35．57％，其中67．35％为≥2种致病菌感染；革兰阴性杆菌中铜绿假单胞菌、不动杆菌属菌为VAP的主要致病菌（65．51％），表皮葡萄球菌为VAP的主要致病革兰阳性球菌，且既往临床认为可选择用来治疗铜绿假单胞菌的抗菌药物敏感率都明显下降，白色念珠菌及其他念珠菌在VAP致病菌中相对减少（13．33％～7．04％），不动杆菌属在VAP致病菌中所占比例显著升高（8．89％～15．49％）。结论铜绿假单胞菌、不动杆菌属为RICU中VAP的主要致病菌，近10年来VAP致病菌的分布特点及耐药性发生了改变。