A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency

Background

Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement.

Framing the child at risk

Risk Assessment Reports are one form of accounting practice which delineate the space of risk considered in a child abuse neglect investigation. The paper analyses two Risk Assessment Reports, contrasting what is reported, what is directly observed and what is hypothesized and implied by child protection practitioners during the assessment of risk. From an analysis of these two reports (each 4 – 5 pages long), the paper identifies the rhetorical strategies and their realizations used by two practitioners in framing the child at risk. The paper problematizes the tension between the institutional need to constrain the exercise of professional judgement through Risk Assessment Models, and the extent to which practitioners actually localize the framing of risk to specific areas of investigation.     

前列腺增生症证型与体内性激素水平的临床研究

目的:研究前列腺增生症中医证型与体内性激素水平的相关性.方法:选择500例患者,中医辨证分为血瘀下焦、膀胱湿热、肾阴亏虚、肾阳不足、肺热气闭,均在就诊次日上午抽空腹血4 mL,进行血清性激素测定.结果:T值以血瘀下焦、肾阴亏虚证较高,肾阳不足证明显偏低,两者比较差别有显著性(P＜0.01);膀胱湿热证和肺热气闭证居中,与血瘀下焦、肾阴亏虚证比较差别也具有显著性(P＜0.05).E2值以肾阳不足证明显偏高,血瘀下焦和膀胱湿热证次之,肾阴亏虚和肺热气闭证较低.各组间比较差别具有显著性(P＜0.01).结论:前列腺增生症各证型与血清性激素水平变化有一定规律可循,同时也为证型客观化、微观化提供了相应证据.     

肺癌的纤支镜检查与影像学征象对照观察的临床研究

目的 联合应用影像学(胸部X线和CT)提高纤支镜对肺癌的诊断。方法选择我院纤支镜后组织病理学确诊的肺癌177例，全部病例在做纤支镜前1周内进行胸部X线或CT检查，并将影像学征象与纤支镜下表现及其病理学类型进行对照分析。结果中央型肺癌165例，周围型肺癌12例；纤支镜下主要表现有：外向型生长98例，浸润型生长63例，仅见间接征象5例，未见异常12例；组织病理学类型：鳞癌117例，腺癌29例，小细胞癌24例，其它肿瘤7例；影像学征象表现有：肺部肿块影116例，阻塞性肺炎表现为主27例，以局限性肺不张表现为主19例，片状模糊的阴影12例，两肺多发结节影3例。结论 纤支镜和影像学征象对肺癌的诊断各有特点，两者联合应用，可取长补短，提高肺癌的诊断。     

关于中医证候研究的几点想法

中医证候学研究是目前中医药研究工作的前沿领域.近年来,虽从不同的角度取得了一些进展,但就本质而言,依旧没有明显的突破.虽然证候的传统定义是基本清楚的,但证候的宏观(定性)标准不十分规范,证候宏观(定性)标准量化研究方法有待统一.这在很大程度上阻碍了整个中医药现代化的进程,因此,证候的现代研究思路值得进一步探讨.在证候研究过程中,建议:(1)以现代疾病为切入点,从基本证候(单证)着手,逐步向复证研究过渡;(2)以人为研究对象,取得相当成果后再进行动物实验才有意义;(3)不仅要与生命科学接轨,更要与整个的自然科学接轨.     

Preference awareness education as stress management training for academic staff

This paper describes a response directed stress management intervention (SMI) in the form of a Jungian based preference awareness education (PAE). It uses the Insights System of personality types to increase awareness of behaviour and communication preferences of self and different others. Eighteen self‐recruited academic employees participated for 7 weeks and received feedback about work preferences and personality type. The aim was to reduce perceptions of stress and interpersonal stress and to increase feelings of job satisfaction and interpersonal satisfaction. The data were analysed using two‐tailed t‐tests. No significant findings were observed for the total sample after training, however, interesting results were found for certain sub‐sample groups. Extravert‐thinking types, reported decreased stress levels (p > 0.018), and participants suffering high stress/interpersonal stress pre‐PAE, reported decreased stress levels (p > 0.010–0.018). Participants suffering low job/interpersonal satisfaction pre‐PAE, reported increased job satisfaction (p > 0.015–0.016). These results suggest that individuals who report high levels of stress and dissatisfaction are most likely to benefit from this type of intervention. Future PAE research might: (a) use pilot studies to meet the intervention preferences of employees that are reluctant to participate in SMIs; (b) include a wait‐list control group; use: (c) a follow up education/measures; (d) and organizational level (stressor directed) SMIs at the same time as response directed initiatives. Copyright © 2005 John Wiley & Sons, Ltd.     

Changes in muscle morphology in dialysis patients after 6 months of aerobic exercise training.

BACKGROUND: In the present study we investigated the effect of a 6-month aerobic exercise programme on the morphology of the gastrocnemius muscle of end-stage renal disease (ESRD) patients. METHODS: Twenty-four ESRD patients volunteered to participate in the training programme and underwent muscle biopsy before training. Eighteen patients completed the training programme of whom nine agreed to a post-training biopsy (one woman and eight men, mean age 56 +/- 15 years). Data are presented for the nine subjects who were biopsied before (PRE) and after training (POST) and separately for the 15 subjects for whom we only have a biopsy before training (cross-sectional group). RESULTS: There were no significant differences (P > 0.05) in fibre type distribution or myosin heavy chain (MyHC) expression between the cross-sectional and PRE/POST groups. The mean cross-section fibre area after training (POST) increased by 46% compared with the PRE training status (P < 0.01). The proportion of atrophic fibres decreased significantly after training in type I, IIa and IIx fibre populations (from 51 to 15%, 58 to 21% and 62 to 32%, respectively). Significant differences were also found in capillary contact per fibre (CC/F), with the muscle having 24% (P < 0.05) more CC/F compared with the PRE training status. No significant differences in cytochrome c oxidase concentration were found between the groups. CONCLUSIONS: In conclusion, exercise appeared to be beneficial in renal rehabilitation by correcting the fibre atrophy, increasing the cross-section fibre area and improving the capillarization in the skeletal muscle of renal failure patients.     

不同类型西洋参花、叶的电镜比较观察

采用扫描电镜对单、双茎西洋参的花粉、叶进行了观察,证明两者在花粉壁的雕纹、叶表皮角质沉积纹理的超微结构上存在着明显的差异。     

Alpha and gamma motoneurons in the peroneal nuclei of the cat spinal cord: an ultrastructural study.

The aim of the present study was to investigate whether ultrastructural features can be used as a guide to identify alpha- and gamma-motoneurons among the intermediate-size neurons of the peroneal motor nuclei. The peroneus brevis and peroneus tertius muscles of adult cats were injected with horseradish peroxidase, and motoneurons labeled by retrograde axonal transport were examined by electron microscopy. In both nuclei, the distributions of cell-body diameters, measured in the light microscope, were bimodal covering the range of 28-84 microns, with a trough around 50 microns. The sample of 25 motoneurons selected for the ultrastructural study included not only large (presumed alpha) and small (presumed gamma) neurons but also intermediate-size cell bodies with diameters in the 40-60 microns range. For each motoneuron, 2-5 profiles were reconstructed from ultrathin sections taken at 6-8 microns intervals. Synaptic boutons were counted and their lengths of apposition were measured. On the basis of three criteria, namely: (1) bouton types present on the membrane, (2) percentage of membrane length covered by synapses, and (3) the aspect of the nucleolus, all the examined motoneurons, including those with intermediate sizes, fell into one of two categories. Fourteen motoneurons, with cell-body diameters in a range of 55-84 microns, were contacted by all types of boutons (mainly S-type with spherical vesicles, F-type with flattened vesicles, and C-type with subsynaptic cistern); the synaptic covering of the somatic membrane was over 40% and the nucleus contained a vacuolated nucleolus. These were considered alpha-motoneurons. Eleven motoneurons, with only S and F boutons, a synaptic covering under 30%, a compact nucleolus and a cell-body diameter ranging between 28 and 50 microns, were considered gamma-motoneurons. No other combination of the three criteria was observed. These results show that unequivocal distinction of alpha- and gamma-motoneurons is possible in the peroneal nuclei, on the basis of morphological differences independent of cell-body size.     

Frequency and causes of shunt revisions in different cerebrospinal fluid shunt types

Summary Shunt complications and revisions are common in hydrocephalic patients treated with a ventriculo-atrial or a ventriculo-peritoneal shunt. The reported revision rate differs very much but the rate of revision is close to 50% in many papers. Data from 884 hydrocephalic patients treated with various shunt types in the period 1958–1989 were recorded retrospectively in order to evaluate the frequency of revision for various shunt types and secondly to analyse the specific reasons for the shunt revisions.The rate of shunt revision was 45%. The Pudenz shunt was revised more often (62%) than the remaining shunt types. The Hakim and the Orbis-Sigma shunts had fewer revisions (35% and 27%, respectively) than the other observed shunt types. A defect of or an obstruction in the ventricular catheters was a frequent cause of revision followed by a defect or an obstruction of the distal catheter, a displacement of the distal catheter and an acute infection. Because of the higher rate of revision for the Pudenz shunt the rate of the above mentioned specific complications is also higher in most of the subgroups for that specific shunt type. Driven by these experiences it is reasonable to seek to develop and introduce new shunt types in an attempt to reduce the complication rate.