A HIGH FREQUENCY OF INHERITED DEFICIENCY OF COMPLEMENT COMPONENT C4 IN DARWIN ABORIGINES

Abstract A high frequency of serum complement component C4A deficiency may explain the higher prevalence and greater severity of systemic lupus erythematosus reported in Australian Aborigines. Inherited deficiencies of serum complement components C4A, C4B, and C2 were examined in two Australian Aboriginal populations from Darwin and Alice Springs and compared with the prevalence of complement deficiencies in white Australian blood donors. The frequency of C4A deficiency alleles was 29% in Darwin Aborigines compared with 12% in Alice Springs and 17% in Canberra blood donors. Partial C4B deficiency was also higher in Darwin Aborigines than in the other populations. Inherited deficiency of serum complement component C2 was not observed.     

铁制剂治疗缺铁性贫血的随机对照临床研究

目的 了解硫酸铁控释片、琥珀酸亚铁、多糖铁复合物治疗缺铁性贫血的疗效及不良反应。方法 将105例不诊于血液科门诊的缺铁性贫血患者，按照入选标准，以随机区组的方法随机分入3个治疗组，分别予以硫酸业铁控释片（福乃得，500mg，每日1次）、琥珀酸业铁（速力菲,，0．1g，每日3次）、多糖铁复合物（力蜚能，0．15g，每日2次）治疗8周，每1－2周随访1次，随访血常规、网织红细胞计数及药物的不良反尖。治疗前及治疗结束检查血清铁、总铁结合力、血清铁蛋白等有关铁参数。结果与结论 以血红蛋白和血清铁蛋白恢复正常作为完全缓解的标准，硫酸亚铁控释片、琥珀酸亚铁、多糖铁复合物3种药治疗8周，缺铁性贫血的完全缓解率分别为74％、76％、40％（P＝0．004），总的有效率分别为81％、89％、76％（P＞0．05）。主要的不良反应为胃肠道反应，3种药中以多糖铁复合物的不良反应最少，其次为琥珀酸亚铁，硫酸铁控释片的不良反应最常见，但大多数能够耐受。     

A randomized,double‐blind,placebo controlled,multi‐center study of intravenous iron sucrose and placebo in the treatment of restless legs syndrome

Iron deficiency may exacerbate symptoms in the Restless Legs Syndrome (RLS). We investigated the effect of intravenous iron sucrose or placebo on symptoms in patients with RLS and mild to moderate iron deficit. Sixty patients with primary RLS (seven males, age 46 (9) years, S‐ferritin ≤45 μg/L) recruited from a cohort of 231 patients were randomly assigned in a 12‐months double‐blind, multi‐centre study of iron sucrose 1000 mg (n = 29) or saline (n = 31). The primary efficacy variable was the RLS severity scale (IRLS) score at week 11. Median IRLS score decreased from 24 to 7 (week 11) after iron sucrose and from 26 to 17 after placebo (P = 0.123, N.S. for between treatment comparison). The corresponding scores at week 7 were 12 and 20 in the two groups (P = 0.017). Drop out rate because of lack of efficacy at 12 months was 19/31 after placebo and 5/29 patients after iron sucrose (Kaplan–Meier estimate, log rank test P = 0.0006) suggesting an iron induced superior long term RLS symptom control. Iron sucrose was well tolerated. This study showed a lack of superiority of iron sucrose at 11 weeks but found evidence that iron sucrose reduced RLS symptoms both in the acute phase (7 weeks) and during long‐term follow up in patients with variable degree of iron deficiency. Further studies on target patient groups, dosing and dosing intervals are warranted before iron sucrose could be considered for treatment of iron deficient patients with RLS. © 2009 Movement Disorder Society     

对诊断PADAM的游离睾酮指数的评估

目的 评价诊断中老年男子部分雄激素缺乏综合征（PADAM）的游离睾酮指数（FTI）.方法 对129例45岁以上健康男性的FTI进行年龄相关分析.以推算的游离睾酮（CFT）值为依据,对FTI进行有效性检验.结果 男子在中老年期FTI与增龄呈明显的负相关.FTI敏感性97.78%,特异性58.33%.结论 计算简单的FTI可用于PADAM病人的筛选和随访,尤其对70岁以上男子是血清FT较为有效的参数.     

Iron deficiency down-regulates the Akt/TSC1-TSC2/mammalian Target of Rapamycin signaling pathway in rats and in COS-1 cells

Iron deficiency (ID) is one of the most commonly known forms of nutritional deficiencies. Low body iron is thought to induce neurologic defects but may also play a protective role against cancer development by cell growth arrest. Thus, ID may affect cellular pathways controlling cell growth and proliferation, the mechanism of which is still not fully understood. The serine/threonine protein kinase Akt and its downstream target, the mammalian Target of Rapamycin (mTOR), is known to play a crucial role in the regulation of cell growth and survival. Therefore, we hypothesized that Akt/mTOR pathway could be influenced by ID. Three-week-old male Wistar-strain rats were divided into 3 groups and the 2 groups had free access to a control diet (C group) or an iron-deficient diet (D group). The third group (PF group) were pair-fed the control diet to the mean intake of the D group. After 4 weeks, rats were killed and their brains were sampled. In separate experiments, COS-1 cells were cultured with or without the iron chelator deferoxamine. Western blots of brain samples and COS-1 lysates were used to analyze the expression and phosphorylation state of Akt, TSC2, mTOR, and S6 kinase proteins implicated in the Akt/mTOR pathway. Using 2 different ID models, we show for the first time that iron deficiency depresses Akt activity in rats and in COS-1 cells, leading to a decrease in mTOR activity.     

邻近皮瓣修复面部皮肤缺损

目的 探讨邻近皮瓣修复面部皮肤缺损的应用效果。方法 162例面部病变切除后皮肤缺损患者，其中先天性色素痣63例，基底细胞癌28例，鳞状细胞癌6例，其他皮肤病变65例。均采用邻近皮瓣即时修复，其中菱形皮瓣57例、双叶皮瓣8例，A-T皮瓣23例、V-Y皮瓣13例、Z成形术23例、推进皮瓣27例、鼻状皮瓣11例。结果 162例皮瓣存活良好，手术切口1期愈合，存活后皮瓣颜色与邻近部位无明显差异，术后无眼睑、眉毛、鼻梁及口角牵扯歪钭，术后3个月切口不显露。结论 邻近皮瓣是修复面部较大皮肤缺损的良好方法，手术外观效果好。     

云南省600例0~5岁儿童维生素A缺乏调查

目的:了解云南省城乡0~5岁儿童维生素A营养状况及影响因素。方法:省、地、县随机整群抽取600例儿童,采用微量荧光光度法检测VitA含量。结果:VitA缺乏发生率16·17%,地、县明显高于省会城市;0岁儿童明显高于其他年龄组;腹泻儿童明显高于正常儿童;VitA缺乏的影响因素:近1周内进食鸡蛋、奶类制品、鱼虾类、肝类、黄绿色蔬菜、鱼肝油等食物有利于维生素A的吸收,急性呼吸道感染、发烧与维生素A缺乏发生率差异不明显。结论:维生素A缺乏发生率城市明显低于农村地、县两级,说明维生素A缺乏防治工作重点在农村,特别是0岁儿童,防治的主要措施是采取合理膳食,均衡营养,控制腹泻流行。     

补碘对7～12岁轻度碘缺乏病儿童脑功能及生长、发育的影响

通过半年对３５名７～１２岁轻度碘缺乏病儿童进行补碘，并与同龄、同地的正常儿童和缺碘未补碘儿童进行比较，以观察补碘对儿童脑功能及生长发育的影响。结果发现：①补碘可使儿童碘营养状况恢复正常，尿碘值由（８３．２±３．５）μｇ／Ｌ上升到（１６２．２±１．６）μｇ／Ｌ，血清Ｔ４、ＦＴ４Ｉ和ｒＴ３：也与正常儿童一致而与未补碘儿童有显著性差异（Ｐ＜０．０５）．②轻度碘缺乏病儿童智商低于正常儿童（Ｐ＜０．０１），补碘在一定程度上改善其智商水平。③轻度碘缺乏病及补碘未能明显影响儿童的生长发育，可能与儿童总营养水平较差有关。     

Benign intracranial hypertension and recombinant growth hormone therapy in Australia and New Zealand

Benign intracranial hypertension (BIH) is reported in three children from Australia and one from New Zealand, who were being treated with recombinant human growth hormone (rhGH). Three males and one female, aged between 10.5 and 14.2 y, developed intracranial hypertension within 2 weeks to 3 months of starting treatment. A national database, OZGROW, has been prospectively collecting data on all 3332 children treated with rhGH in Australia and New Zealand from January 1986 to 1996. The incidence of BIH in children treated with growth hormone (GH) is small, 1.2 per 1000 cases overall, but appears to be greater with biochemical GHD (<10IUml ^-1), i.e. 6.5/1000 (3 in 465 cases), relative risk 18.4, 95% confidence interval 1.9-176.1, than in all other children on the database. The incidence in patients with Turner's syndrome was 2.3/1000 (1 in 428 cases). No cases in patients with partial GHD (10–20 IUml ^-1) or chronic renal failure were identified. Possible causative mechanisms are discussed. The authors'practice is now to start GH replacement at less than the usual recommended dose of 14IUm-² week^-1 in those children considered to be at high risk of developing BIH. Ophthalmological evaluation is recommended for children before and during the first few months following commencement of rhGH therapy and is mandatory in the event of peripheral or facial oedema, persistent headaches, vomiting or visual symptoms. The absence of papilledema does not exclude the diagnosis.     

海南文昌汉族人群中两种葡萄糖-6-磷酸脱氢酶基因突变的研究

目的:分析海南文昌人群中葡萄糖-6-磷酸脱氢酶基因1376G→T、95A→G突变。方法:应用硝基四氮唑蓝定量法进行G6PD缺乏症的筛查,用等位基因特异PCR检测1376G→T、95A→G突变。结果:在358位海南文昌汉族人中,发现G6PD缺乏症患者20例,其中9例患者有1376G→T突变,3例患者有95A→G突变。结论:1376G→T、95A→G突变是文昌人群中常见的突变。