Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension

The renin-angiotensin system is involved in control of blood pressure and salt and fluid homeostasis. Genes for components of this system have been of major focus in research on the causation of the common, complex, polygenic trait, essential hypertension (HT). Association of an A→C variant at nucleotide 1166 of the angiotensin II type 1 receptor (AT₁R) gene with HT, but an absence of linkage of this locus with this disease, has been reported recently. Since confirmation in a different setting is imperative, we performed a cross-sectional case-control study of the A1166C variant in a well-characterized group of 108 Caucasian HT subjects with a strong family history (two affected parents) and early onset disease. Genotyping was by mismatch polymerase chain reaction/ Bfr I restriction fragment length polymorphism analysis. Frequency of the C¹¹⁶⁶allele was 0.40 in HTs and 0.29 in normotensives. The difference in genotype (χ²= 13, P = 0.0015) and allele (χ²= 5.3, P = 0.02) frequencies between the two groups was significant (odds ratio for CC vs AA+AC = 7.3 [95% CI, 1.9–31.9). The present results implicate the AT₁R gene, or a locus in linkage disequilibrium with the variant tested, in the causation of essential HT.     

人体β-胡萝卜素的肠转化和吸收后转化的研究

目的 :为了解部分中国人体内 β 胡萝卜素 ( β carotene ,以下简称 β C)转化维生素A (vitaminA ,以下简称VA)的效率 ,开展了本研究。方法 :使用稳定同位素稀释法对 15名 5 0 60岁健康农村志愿者 (男 9,女6)进行β C人体代谢实验。 2周适应期和 5 6天实验期内 ,志愿者接受常规膳食 ,避免大量VA和 β C摄入以及烟、酒和营养补充剂。实验第 1天 ,给受试者含 6mg氘标记 β C( 2 H8β C)玉米油胶丸 ,随半流质早餐 (脂肪热能比 2 5 % )一起摄入。实验第 4天 ,受试者以同样方法摄入含 3mg氘标记醋酸视黄醇 ( 2 H8RAC)油剂胶丸。实验第 1天和第 4天摄入标记物后 0 ,3 ,5 ,7,9,11,13h时 ,实验第 2 ,3 ,5 ,6,7,8,9,10 ,14,2 1,2 8,3 5 ,42 ,49,5 6天晨空腹时 ,采静脉血。用高效液相色谱仪 (HPLC)分离血清 β C和VA组分 ,再分别使用气相质谱仪(GC MS)和液相质谱仪 (LC MS)测定VA和 β C组分的同位素丰度。根据VA和 β C的浓度和同位素丰度 ,描述标记VA和β C在体内应答的血液动力学曲线。 结果 :所有 15名受试者对2 H8RAC应答明显 ;但是在对2 H8β C的应答方面 ,只有 11名受试者2 H4视黄醇应答曲线明显 ,有 4名受试者血清2 H4视黄醇应答曲线非常微弱。经过对备份血清样品进行的多次重复GC MS测定 ,我们目前初步?     

Utilization of care in haemophilia: a resource-based method for cost analysis from the Haemophilia Utilization Group Study (HUGS)

Summary.  The Haemophilia Utilization Group Study (HUGS) was created 10 years ago to examine the annual utilization and cost of haemophilia-related healthcare services. Retrospective chart reviews for 336 patients with haemophilia A receiving treatment in one of five comprehensive haemophilia treatment centres (HTCs) during 1995 were completed through interview of the provider. This method provided adequate collection of data from patient charts without the abstractor having direct access to patient health information. Utilization data were used to impute the costs of different components of care (e.g. physician visits, factor VIII concentrate, emergency room, hospitalization). The total annual cost of care was $139 102 (SD $304 033). Factor VIII concentrate costs comprised the largest proportion of these costs; mean factor VIII concentrate use was 128 517 units per patient per year. Unbilled physician utilization accounted for 7.8% of the mean total physician costs per annum, while mean allied healthcare costs accounted for 33.5% of the total annual allied healthcare costs per patient. In the ordinary least-squares regression model, higher costs were associated with severe factor VIII deficiency, arthropathy, more comorbid conditions, an inhibitor to factor VIII concentrate, infusing through a port and prophylaxis. Although factor VIII concentrate is the most costly component, the treatment of haemophilia uses many healthcare resources. HUGS has demonstrated that patient clinical characteristics and physician practices predominantly drive the costs of haemophilia care. Specifically, patients with more severe arthropathy had greater healthcare costs. As future funding decisions are made, it is important to provide for all components of care.     

Overexpression of the 18A2/mts1 gene and down–regulation of the TIMP–2 gene in invasive human glioma cell lines in vitro

Invasion of the reconstituted extracellular matrix composite, Matrigel, by eight human glioma–derived cell lines and human fetal brain cells was assessed in vitro using 8 um polycarbonate filters in a modified Boyden migration chamber. With the exception of one low grade glioma derived cell line, all lines studied proved to be invasive while normal fetal brain cells failed to invade. This invasive potential was independent of the histological grade of the tumour from which the cell lines originated. In addition, the expression of the metastasis–associated gene 18A2lmts1 as well as the tissue inhibitor of metalloproteinases–2 (TIMP–2) was analysed in each of the glioma–derived cell lines. The 18A2/mtsl was expressed in all the cells studied with the exception of fetal brain cells and the low grade non–invasive glioma derived IPRK–7 cell line. The 18A2/mtsl related genes coding for the S100 subfamily of calcium binding proteins were found to be differentially and overexpressed in invasive cell lines. TIMP–2 was expressed only in noninvasive cell lines. These results suggest that the 18A2/ mtsl and TIMP–2 genes could play an important role in the invasive behaviour of human glioma cells in vitro. .     

冠心病行为模式与心理状态的相关性探讨

目的为探讨Ａ型行为在冠心病（ＣｏｒｏｎａｒｙＨｅａｒｔＤｉｓｅａｓｅ，ＣＨＤ）中的作用及与心理状态的相关性。方法对１１４例ＣＨＤ及３７例非ＣＨＤ应用心理测验方法对照调查。结果发现Ａ型行为的人易患ＣＨＤ。ＣＨＤＡ型行为者在焦虑、抑郁、人际关系、认识、敌对性症状因子分较ＣＨＤ非Ａ型行为者有明显增高。ＣＨＤ非Ａ型行为者也具有一些特有的心理症状。结论ＣＨＤ病人的行为模式与病后的某些心理表现呈正相关。     

Epidemiological aspects of prenatal exposure to high doses of vitamin a in Spain

Reports of the human teratogenicity of retinoids have raised concern about the potential human teratogenicity of high doses of vitamin A. Nevertheless, there are few human case reports of excess intake of vitamin A during pregnancy and defective outcomes. No epidemiological studies have been carried out on this subject. Here we present the results of an epidemiological study of prenatal exposure to high doses of vitamin A in Spain, using data from the Spanish hospital-based, case-control registry. Although it is difficult to reach conclusions with such a very low exposure level (1.3 per 1,000 livebirths), our results suggest that a teratogenic effect might exist for exposures to high doses of vitamin A (OR = 0.5, p = 0.15 for less than 40,000 FU and OR = 2.7, p = 0.06 for 40,000 1U or more). As we might expect, this effect also seems to be related to the organogenetic status (OR = 5.4, p = 0.1 for 1^st –2^nd month, OR = 1.8, p = 0.4 for 3^rd onwards) at the time of exposure.     

Cyclosporine A alleviates severe anaemia associated with refractory large granular lymphocytic leukaemia and chronic natural killer cell lymphocytosis

Large granular lymphocytic (LGL) leukaemia and chronic natural killer cell lymphocytosis (CNKL) are chronic indolent disorders often associated with neutropenia and constitutional symptoms. Severe anaemia occurs in about 20% of patients and is currently treated with corticosteroids followed by oral cyclophosphamide in non-responders. 30% of patients fail initial measures, and salvage therapy is inadequate. We describe three transfusion-dependent patients (two with T-LGL leukaemia, one with CNKL) refractory to corticosteroids, cyclophosphamide, and in one case fludarabine. Cyclosporine A (CSA) initiation resulted in prompt transfusion-independence and was well tolerated in all patients, making it an attractive alternative therapy for this disorder.     

常见肿瘤患者血清维生素A,E,C水平

本文报告２６０例恶性肿瘤患者血清维生素Ａ、Ｅ、Ｃ水平的测定结果。发现除慢性白血病外，蓁７种恶性肿瘤患者血清维生素Ａ水平平均显著低于健康人（Ｐ＜０．０１）；急性白血，肝癌、食管癌患者血清维生素Ｅ水平显著低于健康人（Ｐ＜０．０５）；急性粒细胞白血病、急性单核细胞白血病、肝癌患者血维生素Ｃ水平显著低于健康人（Ｐ＜０．０１）。本研究工作为维生素Ａ、Ｅ、Ｃ药物在肿瘤临床上的应用提供了参考。     

Die operative Behandlung von Außenknöchelfrakturen mit der Krallenplatte

Ohne Zusammenfassung      

Injection of botulinum A toxin into the gastrocnemius muscle of patients with cerebral palsy: a 3-dimensional motion analysis study

Botulinum A toxin (BOTOX^®) was injected into the gastrocnemius muscle of 26 cerebral palsy subjects with equinus gait. All subjects were equinus walkers without fixed contracture of the triceps-surae muscle. Injections were performed at 3 month intervals, if needed, as determined by the treating clinician. There were 14 subjects with spastic hemiplegia, 11 subjects with spastic diplegia and 1 subject with spastic quadriplegia. In the case of those subjects with bilateral equinus gait the dose was divided and given into both the right and left gastrocnemius muscle. Gait analysis data was collected prior to the first injection and subsequently at 3 month intervals for 1 year. Kinematic and electromyographic data was obtained. This data was analyzed to provide objective information about the outcome of treatment. Four subjects moved away and were lost to follow-up. Seven subjects left the study to have surgery. The data collected revealed statistically significant improvements in dynamic ankle dorsiflexion in both stance and swing phases, stride length, and electromyography of the tibialis anterior. There were no complications. While the results of this study are promising, additional prospective studies are needed to determine the feasibility of preventing muscle contractures over a longer time period. Furthermore, there is a need for inclusion of other muscles in future research. Future research should also compare BOTOX^® treatment with alternative methods of dealing with muscle spasticity such as: casting, orthotic devices, physical therapy, selective dorsal rhizotomy, and surgical lengthening.