染色体平衡易位与异常孕产

目的探讨染色体平衡易位与异常孕产的关系。方法用常规方法制备外周血淋巴细胞染色体标本,对有异常孕产史的夫妇进行染色体G显带核型分析。结果检出染色体平衡易位携带者15例中,女12例,男3例。平衡携带者表型及智力均无明显异常。结论染色体平衡易位携带者妊娠结局以孕早期流产为主,染色体平衡易位是造成临床流产、死胎、生育畸形儿的重要原因之一。对平衡易位携带者再次妊娠时必须做产前诊断,控制不良遗传因素个体的出生。     

Underutilisation of breast cancer prevention medication in Australia

Increased implementation of proven prevention strategies is required to combat rising breast cancer incidence. We assessed use of risk reducing medication (RRMed) by Australian women at elevated breast cancer risk. Only 2.4% had ever used RRMed. Higher breast cancer risk was statistically significantly associated with use of RRMed (OR 1.82, 95%CI: 1.08–3.07, p = 0.02 for ≥30% lifetime risk compared with 16%–29% lifetime risk), but parity, education level and family history of breast cancer were not. Breast cancer prevention medications are underutilised. Efforts are needed to incorporate breast cancer risk assessment and risk management discussions into routine health assessments for women.     

假肥大型肌营养不良症患者及携带者的致病基因突变检测

目的 检测假肥大型肌营养不良症患者及携带者的dystrophin基因致病突变类型,为防止假肥大型肌营养不良症的再发提供信息.方法 利用多重引物连接依赖式扩增技术和变性高效液相色谱技术检测临床研究发现的20例假肥大型肌营养不良症患者的DMD基因突变.结果 缺失突变10例,重复突变1例,终止密码子突变4例,5例未发现致病突变.结论 通过致病突变的检测可以为防止患者家庭假肥大型肌营养不良症的再发提供优生优育指导.     

Effects of reduction of carrier gas flow rate on sevoflurane and isoflurane consumption and costs

Purpose To evaluate whether sevoflurane and isoflurane consumption would be actually halved by halving the carrier gas flow rate, as predicted by a theoretical model, we measured the consumed volume of liquid sevoflurane and isoflurane and total costs of anesthetic gas at carrier gas flow rates of 3 and 61·min⁻¹. Methods Eighty patients of ASA physical status I or II were randomly assigned to one of four groups: sevoflurane at 3 or 61·min⁻¹ and isoflurane at 3 or 61·min⁻¹. Anesthesia was induced with thiamylal and maintained with sevoflurane or isoflurane, as well as with nitrous oxide in oxygen. The consumption of sevoflurane and isoflurane was measured by weighing the bottle of liquid agent, which was greater in the groups receiving 61·min⁻¹ gas than in those receiving 31·min⁻¹. Results Halving the carrier gas flow rate reduced the consumption of sevoflurane by 41.8% and that of isoflurane by 52.6%. It also reduced the total cost by 44.3% for sevoflurane and 49.2% for isoflurane. Conclusion Halving the carrier gas flow rates halved the consumption of isoflurane but not of sevoflurane, indicating that factors other than carrier gas flow rates are involved in determining consumption in the clinical setting.     

肿瘤浸润性淋巴细胞结合偶联半乳糖抗CD3单克隆抗体的肝脏靶向性研究

目的　探讨结合偶联半乳糖（ Ｇａｌａｃｔｏｓｅ , Ｇａｌ） 抗 Ｃ Ｄ３ 单克隆抗体（ Ａｎｔｉ Ｃ Ｄ３ Ｍｃ Ａｂ） 肿瘤浸润性淋巴细胞（ Ｔｕｍｏｒｉｎｆｉｌｔｒａｔｉｎｇ ｌｙｍｐｈｏｃｙｔｅｓ , Ｔ Ｉ Ｌ） 肝脏靶向性。 方法　本组把大鼠抗小鼠 Ｃ Ｄ 单克隆抗体和半乳糖偶联在一起,与３ Ｈ Ｔｄ Ｒ 标记 Ｔ Ｉ Ｌ结合后,从鼠尾静脉注入小鼠体内,在注射不同时间眼眶取血０５ ｍｌ,然后处死,切除肝、脾、肺,分别称重后进行放射性强度测定。 结果　结果显示：注射 Ｇａｌａｎｔｉ Ｃ Ｄ３ Ｍｃ Ａｂ Ｔ Ｉ Ｌ小鼠肝脏比注射单纯 Ｔ Ｉ Ｌ 的小鼠肝脏具有较高的放射性（ Ｐ＜ ００１） ,且该放射性持续较长一段时间,而脾、肺、血液内放射性强度差异无显著意义（ Ｐ＞ ００５ , Ｐ＞ ００５ , Ｐ＞ ００５） 。结论　该结果提示： Ｇａｌａｎｔｉ Ｃ Ｄ３ Ｍｃ Ａｂ Ｔ Ｉ Ｌ较单纯 Ｔ Ｉ Ｌ具有更好的肝脏靶向性。     

Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis

Diagnosis of X-linked adrenoleukodystrophy is based upon demonstration of high levels of very long chain fatty acids. More recently, in addition to biochemical analysis, closely linked DNA probe St14 has been used for prenatal diagnosis in informative families. Identification of heterozygotes is particularly important, both in order to specifically address only carrier females to prenatal diagnosis, and because appropriate dietary therapy is now available to treat those heterozygotes presenting with neurological symptoms. We report two pedigrees in which carrier detection was performed by a combination of biochemical and molecular genetic analysis. Such approach should allow extremely high accuracy in carrier detection.     

Guide to CAT scanning in hospital psychiatry : Overview of clinical practice and criteria for use

Advances in imaging techniques have resulted in increasing use of computed axial tomography (CAT) in clinical psychiatry. Treatable brain lesions predominantly manifesting as emotional and behavioral symptoms can be detected with relative ease and safety by CAT scanning. Criteria to select these high-risk psychiatric patients for CAT exam are vague and sparse compared to more abundant guidelines for scanning neurologic and medical patients with focal signs of physical abnormality. The few existing surveys of inpatient psychiatry CAT scanning reveal a 65–70% range of normal findings. As more and more patients are scanned, such an obviously large group of “normals” should not be exposed to current CAT exam costs and risks; at the same time, it is necessary to ensure that those psychiatric patients warranting the procedure are not neglected in referral. This article highlights clinical aspects of CAT brain imaging, summarizes the existing literature on inpatient psychiatry CAT scanning, and recommends initial criteria for CAT brain examination of hospitalized patients.     

Air classifier technology (ACT) in dry powder inhalation. Part 1. Introduction of a novel force distribution concept (FDC) explaining the performance of a basic air classifier on adhesive mixtures

Air classifier technology (ACT) is introduced as part of formulation integrated dry powder inhaler development (FIDPI) to optimise the de-agglomeration of inhalation powders. Carrier retention and de-agglomeration results obtained with a basic classifier concept are discussed. The theoretical cut-off diameter for lactose of the classifier used, is between 35 and 15 μm for flow rates ranging from 20 to 70 l/min. Carrier retention of narrow size fractions is higher than 80% for flow rates between 30 and 60 l/min, inhalation times up to 6 s and classifier payloads between 0 and 30 mg. The de-agglomeration efficiency for adhesive mixtures, derived from carrier residue (CR) measurement, increases both with increasing flow rate and inhalation time. At 30 l/min, 60% fine particle detachment can be obtained within 3 s circulation time, whereas at 60 l/min only 0.5 s is necessary to release more than 70%. More detailed information of the change of detachment rate within the first 0.5 s of inhalation is obtained from laser diffraction analysis (LDA) of the aerosol cloud. The experimental results can be explained with a novel force distribution concept (FDC) which is introduced to better understand the complex effects of mixing and inhalation parameters on the size distributions of adhesion and removal forces and their relevance to the de-agglomeration in the classifier.     

Energy source for transepithelial sodium transport in rat renal proximal tubules

Summary The effects of various metabolic inhibitors on isotonic fluid absorption (J _V ) in rat proximal tubules and on the Na⁺–K⁺-ATPase of isolated cell membranes of rat kidney cortex were investigated by the shrinking split oil droplet technique and biochemical methods respectively.Both Oligomycin (5×10^–5 M, 10^–4 M) and Antimycin A (10^–5 M, 10^–4 M) inhibited isotonic fluid absorption by 80% when applied intratubularly but only in conjunction with bovine serum albumin. At these concentrations they inhibited a Na⁺–K⁺ activated adenosine triphosphate phosphohydrolase (Na⁺–K⁺ ATPase E.C. 3.6.1.3.) of cell membranes isolated from rat kidney cortex by 77%, 82% and 55%, 95%, respectively.Sodium phosphoenolpyruvate (PEP) 5×10^–3 M could partially reverse the inhibition of the isotonic fluid absorption but only with 10^–5 M Antimycin A when the Na⁺–K⁺ ATPase inhibition was apparently small.The uncoupler, carbonyl cyanide m-chlorophenyl hydrazone (CCCP) (10^–3 M), as well as sodium cyanide (5×10^–3 M) inhibitedJ _V 100%, but only when applied through peritubular blood capillary perfusion.From these findings it was concluded thatall proximal tubular isotonic fluid absorption is supported by energy fromoxidative processes, and that in a least 80% of this sodium reabsorption, ATP from oxidative phosphorylation is directly involved, while, for the remaining 20% non ATP energy is responsible.C. J. Martin Fellow of the National Health and Medical Research Council of Australia.