经关节入路微创钢板固定技术治疗股骨远端C型骨折

目的探讨经关节入路微创钢板固定(MIPPO)技术治疗股骨远端C型骨折的临床疗效。方法2002年4月～2005年2月,应用MIPPO技术治疗股骨远端C型骨折14例,按AO/ASIF分类：C1型3例,C2型6例,C3型5例。先行关节内骨折切开复位、松质骨螺钉固定,再行髁上部分骨折间接复位、经关节内切口插入髁支撑钢板或LISS钢板桥接固定骨折。结果12例患者获得10～32个月(平均18．4个月)随访,骨折均获愈合,愈合时间10周～12个月,平均4．6个月。按Kolmert和Wulff的评价标准：优4例,良5例,可2例,差1例,优良率为75%。结论应用MIPPO技术治疗股骨远端C型骨折实现了微创操作,具有创伤小、软组织干扰少、骨折愈合快等优点,疗效满意。     

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

Porphyria cutanea tarda (PCT) arises from decreased hepatic activity of uroporphyrinogen decarboxylase (UROD). Both genetic and environmental factors interplay in the precipitation of clinically overt PCT, but these factors may vary between different geographic areas. Decreased activity of UROD in erythrocytes was used to identify patients with UROD mutations among a group of 130 Spanish PCT patients. Nineteen patients (14.6%) were found to harbor a mutation in the UROD gene. Eight mutations were novel: M1I, 5del10, A22V, D79N, F84I, Q116X, T141I and Y182C. Five others were previously described: F46L, V134Q, R142Q, P150L and E218G. The new missense mutations and P150L were expressed in Escherichia coli. D79N and P150L resulted in proteins that were localized to inclusion bodies. The other mutations produced recombinant proteins that were purified and showed reduced activity (range: 2.3–73.2% of wild type). These single amino acid changes were predicted to produce complex structural alterations and/or reduced stability of the enzyme. Screening of relatives of the probands showed that 37.5% of mutation carriers demonstrated increased urinary porphyrins. This study emphasizes the role of UROD mutations as a strong risk factor for PCT even in areas where environmental factors (hepatitis C virus) have been shown to be highly associated with the disease.     

变应性鼻炎脱敏治疗的效果观察

目的观察变应性鼻炎（AR）脱敏治疗的效果，探讨影响变应性鼻炎脱敏治疗效果的相关因素。方法对185例AR患者通过皮肤试验，选择敏感变应原浸液，按递增剂量进行常规皮下脱敏治疗。根据患者治疗前后的症状和体征得分情况，分为显效、有效和无效。选择性别、年龄、病程、病情、伴慢性鼻窦炎、伴哮喘、脱敏治疗时间、皮试反应等8个影响变应性鼻炎脱敏治疗效果的可能因素进行多元回归分析，筛查影响脱敏治疗效果的因素。结果总有效率74．6％，其中显效22．9％，有效51．7％。影响脱敏治疗效果的主要因素是治疗时间，即时间越长，效果越好（P〈0．01）；其次是年龄因素，年龄越小，效果越好（P〈0．05）；伴慢性鼻窦炎和伴哮喘也可能影响脱敏治疗效果（P值分别为0．072和0．069）。结论变应性鼻炎脱敏治疗是有效的，脱敏治疗时间越长、年龄越小，效果越好。     

Traumatic exposure and posttraumatic stress disorder in borderline,schizotypal, avoidant,and obsessive-compulsive personality disorders: findings from the collaborative longitudinal personality disorders study

The association between trauma and personality disorders (PDs), while receiving much attention and debate, has not been comprehensively examined for multiple types of trauma and PDs. The authors examined data from a multisite study of four PD groups: schizotypal, borderline (BPD), avoidant, and obsessive-compulsive, and a major depression comparison group. Rates of traumatic exposure to specific types of trauma, age of first trauma onset, and rates of posttraumatic stress disorder are compared. Results indicate that BPD participants reported the highest rate of traumatic exposure (particularly to sexual traumas, including childhood sexual abuse), the highest rate of posttraumatic stress disorder, and youngest age of first traumatic event. Those with the more severe PDs (schizotypal, BPD) reported more types of traumatic exposure and higher rates of being physically attacked (childhood and adult) when compared to other groups. These results suggest a specific relationship between BPD and sexual trauma (childhood and adult) that does not exist among other PDs. In addition, they support an association between severity of PD and severity of traumatic exposure, as indicated by earlier trauma onset, trauma of an assaultive and personal nature, and more types of traumatic events.     

下肢骨肉瘤的MRI与X线对照研究

目的 对比分析下肢骨肉瘤的X线与MRI表现，探讨MRI对骨肉瘤的诊断价值。方法 收集经手术或病理穿刺活检证实的下肢骨肉瘤15例，男11例，女4例，均行MRI平扫及增强扫描（4例行CT扫描），并摄有X线平片，对其MRI征象与X线征象作逐一对比。结果 MRI及X线平片对下肢骨肉瘤的诊断准确率均为100％，MRI在显示病变范围、放射状骨针、Codman三角两层结构以及跳跃病灶等方面明显优于X线平片检查。结论 X线平片是诊断骨肉瘤最简便而实用的方法，但MRI可以更好的显示病变的范围，发现早期病变。     

头皮原发性皮肤神经节细胞瘤

神经节细胞瘤是一种神经内分泌肿瘤，其发生与自主神经系统的交感或副交感神经节有关。罕见发生于膀胱、前列腺和子宫。本文作者报道1例发生于儿童头皮的原发性皮肤神经节细胞瘤。对此肿瘤进行了组织学、免疫组化和超微结构研究。该病例可能代表神经嵴细胞向鳃弓发育过程中的一种异常迁移。此外，研究结果还强调在胚胎发育过程中神经嵴和鳃弓／裂之间有复杂的相互作用。     

Treatment utilization by patients with personality disorders

OBJECTIVE: Utilization of mental health treatment was compared in patients with personality disorders and patients with major depressive disorder without personality disorder. METHOD: Semistructured interviews were used to assess diagnosis and treatment history of 664 patients in four representative personality disorder groups-schizotypal, borderline, avoidant, and obsessive-compulsive-and in a comparison group of patients with major depressive disorder. RESULTS: Patients with personality disorders had more extensive histories of psychiatric outpatient, inpatient, and psychopharmacologic treatment than patients with major depressive disorder. Compared to the depression group, patients with borderline personality disorder were significantly more likely to have received every type of psychosocial treatment except self-help groups, and patients with obsessive-compulsive personality disorder reported greater utilization of individual psychotherapy. Patients with borderline personality disorder were also more likely to have used antianxiety, antidepressant, and mood stabilizer medications, and those with borderline or schizotypal personality disorder had a greater likelihood of having received antipsychotic medications. Patients with borderline personality disorder had received greater amounts of treatment, except for family/couples therapy and self-help, than the depressed patients and patients with other personality disorders. CONCLUSIONS: These results underscore the importance of considering personality disorders in diagnosis and treatment of psychiatric patients. Borderline and schizotypal personality disorder are associated with extensive use of mental health resources, and other, less severe personality disorders may not be addressed sufficiently in treatment planning. More work is needed to determine whether patients with personality disorders are receiving adequate and appropriate mental health treatments.     

一例AML中一种新的TCRδ基因重排及其分析方法

Ｔ细胞抗原受体（ＴＣＲ）功能的表达有赖于该基因在正常Ｔ淋巴细胞发育过程中的重排。近年来，已发现一些肿瘤及白血病中出现该基因的异常重排。我们采用聚合链反应（ＰＣＲ）、“磁珠”固相纯化方法和ＰＣＲ产物直接测序等方法，从一例ＡＭＬ中发现了一种在白血病中未报道过的ＴＣＲδ基因重排，该重排是一种新报道的Ｄδ区ＤδＸ片段的重排，为ＤδＸＤδＤδＪδ不完全重排。在研究白血病ＴＣＲ基因重排中，采用本文所报道的方法     

Epogam evening primrose oil treatment in atopic dermatitis and asthma

Essential fatty acids are claimed to have positive effects in atopic diseases. In a double blind, placebo controlled, parallel group study 58 out of 60 children, with atopic dermatitis and the need for regular treatment with topical skin steroids, completed a 16 weeks' treatment period with either Epogam evening primrose oil or placebo capsules. Twenty two of these subjects also had asthma. The parents used diaries to record symptom scores and concomitant medication. Peak expiratory flow was measured and disease activity was monitored by the clinician every four weeks. The plasma concentrations of essential fatty acids increased significantly in the group treated with Epogam capsules. The study demonstrated significant improvements of the eczema symptoms but no significant difference was found between the placebo and the Epogam groups. No therapeutic effect was shown on asthma symptoms or fidget.