Information processing in patients with early and continuously-treated phenylketonuria

A total of 33 patients with early and continuously-treated phenylketonuria (PKU) between 7 and 16 years of age and 33 matched controls participated in a study examining perceptual, central, and response-related mechanisms of information processing. The specific mechanisms studied were: perceptual filtering, memory search, response selection, response execution, and motor presetting. In addition, groups were compared on mean intelligence level and task oriented behaviour. The performance of the PKU patients practically matched that of the controls on all three tasks, suggesting that PKU patients who are continuously maintained on a well-controlled phenylalanine-restricted diet are not impaired in the elementary mechanisms of information processing. Furthermore, groups did not differ in mean IQ or task-oriented behaviour.     

达那唑海藻酸钠微球用于豚鼠子宫肌瘤动脉栓塞术后细胞凋亡的研究

目的 研究达那唑海藻酸钠微球(DKMG)用于子宫肌瘤动脉栓塞术后细胞凋亡的特点.方法 2005年6月至11月于北京协和医院实验动物中心,对24只豚鼠采用雌孕激素负荷法建立子宫肌瘤模型,雌孕激素负荷16周后,随机分为3组:即DKMG栓塞组(DKMG组,8只)、海藻酸钠微球(KMG)栓塞组(KMG组,8只)和未进行子宫动脉栓塞组(对照组,8只).豚鼠双侧子宫动脉栓塞术在麻醉下开腹直视下进行.于子宫动脉栓塞术4周后,用TUNEL法检测肌瘤细胞凋亡情况,同时用免疫组织化学方法检测肌瘤组织中Bcl-2蛋白的表达.结果 DKMG组、KMG组和对照组TUNEL法凋亡细胞比率分别为:(44.6±11.9)%,(33.7±7.3)%和(22.8±9.7)%.DK-MG和KMG组间凋亡细胞比率比较,差异有统计学意义(P<0.05),DKMG组、KMG组和对照组Bcl-2免疫组化染色H评分值分别为:2.7±0.7,2.1±0.3和1.3±0.6.3组间H评分值比较,差异有统计学意义(P<0.05).结论 达那唑海藻酸钠微球用于子宫肌瘤动脉栓塞术可造成细胞凋亡增加,其机制为微球中达那唑药物的局部释放,增加了子宫平滑肌细胞的凋亡比率.     

Many referrals under Dutch short stature guidelines

The number of referrals under strict adherence to the Dutch consensus guidelines for short stature was estimated using longitudinal data from 970 children (0-10 years). Results showed that over 38% of all children would have to be referred one or more times. There is therefore a clear need to revise the current guidelines.     

Towards evidence based referral criteria for growth monitoring

Aims: To evaluate the performance of growth monitoring in detecting diseases. Turner''s syndrome (TS) is taken as the target disease. Methods: Case-control simulation study. Three archetypal screening rules are applied to longitudinal growth data comparing a group with TS versus a reference group from birth to the age of 10 years. Main outcome measures were sensitivity, specificity, and median referral age. Results: Clear differences in performance of the rules were found. The best rule takes parental height into account. Combining rules could improve diagnostic accuracy. Conclusion: Growth monitoring is useful to screen for TS. A combined rule that takes absolute height SDS, parental height, and deflection in height velocity into account is the best way to do this. Similar research is needed for other diseases, populations, and ages, and the results should be synthesised into evidence based referral criteria.     

Youth health care: much prevention for little money

As part of government policy, the 'Youth healthcare' prevention programme is offered free of charge to all children aged 0 to 19 years who are resident in the Netherlands. It consists of a programme of primary prevention (including vaccinations, information and advice) and secondary prevention (screening, surveillance, early diagnosis) and individual prevention and care. Many elements from the programme package have been shown to have a favourable cost-effectiveness relationship, in terms of health benefits and financially. Other elements have a social priority. The present government expenditure for the total youth healthcare package is about 380 million euros per year, that is 1900 euros per child. In terms of conditions prevented or years of life gained, this is cheaper than accepted prevention programmes for adults. The present approach can only be maintained and strengthened, if the expenditure is increased so that new programme elements can be investigated and--if found effective--implemented.     

Role of Ca2+-Activated Cl− Current in Ventricular Action Potentials of Sheep During Adrenoceptor Stimulation

Adrenoceptor stimulation enhances repolarising and depolarising membrane currents to different extents in cardiac myocytes. We investigated the opposing effects of the repolarising Ca(2+)-activated Cl(-) current (I(Cl(Ca))) and depolarising L-type Ca(2+) current (I(Ca,L)) on the action potential configuration of sheep ventricular myocytes stimulated with noradrenaline. Whole-cell current-clamp recordings revealed that noradrenaline accelerated and prolonged phase-1 repolarisation. We define the minimal potential at the end of phase-1 repolarisation as "notch level". Noradrenaline (1 microM) caused the notch level to fall from 14 +/- 2.6 to 7.8 +/- 2.8 mV (n = 24), but left action potential duration, resting membrane potential or action potential amplitude unaffected. Whole-cell voltage-clamp recordings showed that 1 microM noradrenaline increased both I(Ca,L) and I(Cl(Ca)), but it had no significant effect on the principal K(+) currents. Blockage of I(Cl(Ca)) by 0.5 mM 4,4'-diisothiocyanatostilbene-2,2'-disulphonic acid (DIDS) in both the absence and the presence of noradrenaline abolished phase-1 repolarisation. In the presence of noradrenaline, DIDS caused elevation of the plateau phase amplitude and an increase in the action potential duration. In conclusion, elevation of the plateau phase amplitude and action potential prolongation associated with an increased I(Ca,L) upon adrenoceptor stimulation is prevented by an increased I(Cl(Ca)) in sheep ventricular myocytes. Experimental Physiology (2001) 86.2, 151-159.     

叶酸对突发性耳聋患者血浆同型半胱氨酸水平的影响

目的 探讨叶酸降低突发性耳聋(SSHL)患者血浆同型半胱氨酸(tHcy)水平的作用及其使用的最适剂量.方法 以10次随机抽样获得的210例SSHL患者作为研究对象.除采用相同的常规治疗外,患者每天口服不同剂量的叶酸(0.2、0.4、0.8、2.0、5.0、10.0、15.0 mg,A～G组)及相同剂量的维生素B6、B12.采用荧光偏振法分别检测治疗前和治疗后3个月的血浆tHcy 水平.另以210例有血浆tHcy检测资料的非SSHL者作为对照组.就SSHL组与对照组以及SSHL组中A～G组的tHcy水平进行统计学分析.结果 SSHL组血浆tHcy水平为(18.07±1.58)μmol/L,显著高于对照组的(13.63±1.33)μmol/L(P＜0.001).A～G组的tHcy水平分别较治疗前下降12%、19%、22%、23%、24%、29%和26%;A～G组在听力恢复方面的组间比较无显著性差异(P＞0.05).结论 SSHL患者血浆tHcy水平明显升高.叶酸在降低SSHL患者tHcy水平方面可能起重要作用,10 mg/d是值得推荐的口服最适剂量.