国内首例子宫原发性原始神经外胚叶肿瘤报告并文献复习

迄今国外文献仅报道16例子宫原发性原始神经外胚叶肿瘤(pPNET),本文在国内首次报道1例经手术病理检查确诊的子宫原发性原始神经外胚叶肿瘤。患者因经期延长、经量增多3个月入院,入院后经相关检查诊断为子宫肌瘤并中度贫血,后经多次输注浓缩红细胞,血红蛋白升至85.9 g/L后,在全麻下行子宫肌瘤剜除术,术后病理检查诊断为子宫前壁下段PNET,转入妇科肿瘤病房,行子宫全切、右侧附件切除并盆腔淋巴结清扫术。术后诊断子宫前壁下段pPNETⅠb期,予化疗。随访2.5年无复发。本文通过对本例临床资料进行回顾性分析并复习相关文献,探讨pPNET相关特点及诊治情况,以提高临床医生对pPNET的认识。     

低温保存的GFP标记脂肪源性干细胞体外构建组织工程骨的研究

目的研究经低温保存的GFP基因转染的犬脂肪源性干细胞（ASCs）在脱钙骨（DBM）支架材料上的生长特性及成骨分化潜能。方法胶原酶消化法分离获取并常规培养犬ASCs,用绿色荧光蛋白（GFP）重组逆转录病毒载体转染第2代ASCs,然后进行低温保存。-196℃液氮保存4周后,37℃复苏,测定细胞存活率。低温保存前后的ASCs接种DBM,用成骨诱导液诱导培养2周。激光共聚焦显微镜观察细胞在DBM上的生长情况,DNA定量（Hoechst33258法）测定细胞的体外增殖活性。通过测定碱性磷酸酶（ALP）活性和骨钙蛋白（OCN）含量,观察低温冻存对细胞在支架材料上成骨能力的影响。结果低温冻存复苏后细胞的存活率〉90%,激光共聚焦显微镜显示细胞在材料上黏附生长良好。体外培养12d时细胞增殖达到平台期,ALP活性与OCN含量则随培养时间延长而不断上升,低温保存前后细胞的检测结果无显著差异（P〉0.05）。结论低温保存对GFP标记的犬ASCs在脱钙骨上的体外生长及成骨能力无显著影响,可以作为组织工程骨的种子细胞。     

人类脂肪来源成体干细胞体外定向成软骨的诱导实验

目的 评价人类脂肪来源成体干细胞(hADASc)体外培养转基因定向成软骨诱导的可行性.方法 hADASc体外培养后行PGL3.转化生长因子β1(TGF-β1)基因转染并鉴定,检测转染细胞Lueiferase活性相对光读数(RLU),再行反转录聚合酶链式反应(RT-PCR)检测和抗Ⅱ型胶原免疫组织化学染色(实验组:转染的hADASc,同比对照组:加入软骨细胞定向诱导培养基的未转染hADASc;阴性对照组:未转染的hADASc),自动图像分析系统分析免疫染色图片并计算阳性颗粒(PU)值.结果 人类皮下脂肪体外分离培养出具有干细胞特征的有核组织细胞.hADASc转染后,实验组测得RLU值(9 212.583±315.240)高于阴性对照组(317.000±20.710,P＜0.01).RT-PCR结果显示转染的hADASc表达TGF-β1;免疫染色结果显示,实验组与同比对照组呈阳性反应,且两组PU值(13.864±2.416,13.637±2.548)均与阴性对照组的PU值差异有统计学意义(6.013±0.827,P＜0.05).结论 人类皮下脂肪体外分离培养出具有干细胞特征的有核组织细胞.PGL3-TGF-β1基因转染的hADASc可表达TGF-β1.内源性TGF-β1可诱导hADASc分泌Ⅱ型胶原蛋白,与外源性TGF-β1作用相类似.     

German validation of the Conners Adult ADHD Rating Scales-self-report (CAARS-S) I: Factor structure and normative data

Background

Attention-deficit/hyperactivity disorder (ADHD) often persists into adulthood. Instruments for diagnosing ADHD in childhood are well validated and reliable, but diagnosis of ADHD in adults remains problematic. Attempts have been made to develop criteria specific for adult ADHD, resulting in the development of self-report and observer-rated questionnaires. To date, the Conners Adult ADHD Rating Scales (CAARS) are the international standard for questionnaire assessment of ADHD. The current study evaluates a German version of the CAARS self-report (CAARS-S).

Methods

Eight hundred and fifty healthy German control subjects were recruited to fill out the CAARS-S and to answer questions on sociodemographic variables. Explorative and confirmative factor analyses were conducted to obtain the factor structure for the German model and to replicate the factor structure of the original American model. Analyses on gender, age, and education level were calculated for normative data.

Results

The explorative factor analysis of the German sample results in a six-factor solution that explained 52% of the variance. A confirmative analysis that was based on the 42 items of the original American model showed a high model-fit. Analyses of normative data showed significant influences of age, gender, and education level on the emerging subscales.

Conclusion

Even though the explorative factor analysis yields a solution different from the American original, the confirmative factor analysis results in such a high model-fit that use of the American version is justified with respect to international multicenter studies, for which this instrument will be highly valuable.     

Shared impairment in associative learning in schizophrenia and bipolar disorder

Background

Schizophrenia (SCZ) and bipolar disorder (BD) share some cognitive commonalities. However, the role of associative learning, which is a cornerstone of human cognition mainly relying on hippocampus, has been under-investigated. We assessed behavioral performance during associative learning in a group of SCZ, BD and healthy controls (HC).

Methods

Nineteen patients with SCZ (36 ± 8.1 years; 13 males, 6 females; all Caucasians), 14 patients with BD (41 ± 9.6 years; 5 males, 9 females; all Caucasians) and 45 HC (27.7 ± 6.9 years; 18 males, 27 females; all Caucasians) were studied. Learning was assessed using an established object-location paired-associative learning paradigm. Subjects learned associations between nine equi-familiar common objects and locations in a nine-location grid. Performance data were analyzed in a repeated measures analysis of variance with time (repeated) and group as factors.

Results

Learning curves (performance = 1−e^−k?time) fitted to average performance data in the three groups revealed lower learning rates in SCZ and BD (k = 0.17 and k = 0.34) than HC (k = 0.78). Significant effects of group (F = 11.05, p < 0.001) and time (F = 122.06, p < 0.001) on learning performance were observed.

Conclusions

Our study showed that associative learning is impaired in both SCZ and BD, being potentially not affected by medication. Future studies should investigate the neural substrates of learning deficits in SCZ and BD, particularly focusing on hippocampus function and glutamatergic transmission.     

伴发脑梗死的成人晚发型戊二酸尿症Ⅰ型1例报告(附临床表现、影像学、生化和基因改变)

目的 报告1例经生化和致病基因分析而确诊的成人晚发型戊二酸尿症Ⅰ型(GA-1)患者,探讨其临床、影像学特点,分析其脑梗死与戊二酸尿症Ⅰ型之间的相关性,并进行治疗后的随访.方法 1例51岁脑梗死患者,报告其临床经过、生化特点和头部核磁共振改变.血液和尿液生化检查包括气相色谱/质谱分析法检测尿有机酸、串联质谱联用法检测血液氨基酸/酯酰肉碱谱.提取患者及其父母的外周血DNA,进行戊二酰辅酶A脱氧酶编码基因(glutaryl CoA dehydrogenase,GCDH)的突变分析.并观察患者在治疗前后临床、生化、尿有机酸及血液酯酰肉碱谱分析等方面的变化.结果 该患者以脑梗死起病,头部MRI示右侧大脑半球多发脑梗死,双外侧裂明显增宽,双侧颞叶前部蛛网膜囊肿,轻度皮质萎缩.尿有机酸分析检出大量戊二酸和3-羟基戊二酸,GCDH基因检测发现为复合杂合性突变(G178E和R402Q),确诊为戊二酸尿症Ⅰ型.同时发现患者血液中同型半胱氨酸水平增高、游离肉碱和多种酯酰肉碱水平显著降低.治疗后血同型半胱氨酸水平接近正常,尿有机酸分析戊二酸浓度较前显著增高,血液酯酰肉碱谱分析结果较治疗前明显好转.结论 尽管戊二酸尿症Ⅰ型多于婴幼儿期发病,但也存在非常罕见的成人晚发型.戊二酸尿症I型可能是造成脑梗死的因素之一.在成人卒中患者中,如果没有发现其他卒中相关危险因素,必要时应进行代谢障碍筛查以除外代谢性疾病.     

成人轻型地中海贫血患者肝纤维化标志物的临床意义

目的观察成人轻型地中海贫血患者肝纤维化4项标志物含量的变化。方法经基因分型诊断为轻度地贫患者67例,其中α-地贫46例,β-地贫21例,采用放射免疫法（RIA）检测血清透明质酸（HA）、Ⅲ型前胶原（PCⅢ）、Ⅳ型胶原（CⅣ）和层粘连蛋白（LN）的水平,并与健康对照组26例作比较。结果地贫组、β-地贫组、α-地贫组的HA、PCⅢ和LN水平与对照组比较差异无统计学意义（P〉0.05）;但CⅣ明显高于对照组（P〈0.05）。地贫组与α-地贫组的CIV异常例数显著高于对照组（P〈0.05）。结论轻型地中海患者的单项肝纤维化标志物异常的发生率较高,提示轻型地中海患者可能有轻微肝功能紊乱,在健康评估时应予考虑。     

Patients taking medications for bipolar disorder are more prone to metabolic syndrome than Korea's general population

Despite growing concerns about the co-morbidity of metabolic syndrome (MetS) and bipolar disorder, few studies have been conducted on this topic in Asian populations. This study examined Korean patients with bipolar disorder to assess its co-morbidity with MetS and to compare the prevalence of MetS in patients with medication for bipolar disorder with that of healthy patients. We used cross-sectional data from the medical records of patients with bipolar disorder who presented to the psychiatric clinic in Seoul National University Hospital between June 2007 and June 2008. The control group, matched for age and gender, was randomly drawn from visitors to the Health Promotion Center at the same hospital during the same period. We compared the prevalence of MetS between these two groups with independent sample t-tests and chi-squared tests. We also calculated the indirectly standardized prevalence ratio (ISPR) with a standardization that used the Fourth Korean National Health and Nutrition Examination Survey (KNHNES, 2007). The prevalence of MetS in patients who took medication for bipolar disorder (N = 152) was 27.0%, 25.0% and 25.7%, based on the definitions of the American Heart Association and the National Heart, Lung and Blood Institute's adaptation of the Adult Treatment Panel III (AHA), the National Cholesterol Education Program for Adult Treatment Panel III (ATPIII) and the International Diabetes Federation (IDF), respectively. The present study determined that the prevalence of MetS was significantly higher in patients with bipolar disorder than in the control group; the odds ratios (OR) (95% CI) were 2.44 (1.35–4.40), 2.48 (1.34–4.59) and 2.57 (1.40–4.74), based on the definition of the AHA, ATPIII and IDF, respectively. The ISPR (95% CI) was 1.48 (1.02–1.93), 1.54 (1.05–2.03) and 1.98 (1.36–2.60), respectively. Patients with medications for bipolar disorder showed a significantly higher prevalence of increased waist circumference, elevated triglycerides, and reduced HDL-cholesterol than the control group. The prevalence of MetS in patients taking medication for bipolar disorder was higher than that in the general population. Obesity and dyslipidemia were particularly prevalent in patients with bipolar disorder.     

Laparoscopic ventral rectopexy for internal rectal prolapse: short‐term functional results

Objective Over the last 15 years, posterior rectopexy, which causes rectal autonomic denervation, was discredited for internal rectal prolapse because of poor results. The condition became medical, managed largely by biofeedback. We aimed to audit the short‐term functional results of autonomic nerve‐sparing laparoscopic ventral rectopexy (LVR) for internal rectal prolapse. Method Prospectively collected data on LVR for internal rectal prolapse were analysed. End‐points were changes in bowel function (Wexner Constipation Score and Fecal Incontinence Severity Index) at 3 and 12 months. Analysis was performed using Mann–Whitney U‐test for unpaired data and Wilcoxon signed rank test for paired data (two‐sided p‐test). Functional outcomes were compared with those achieved previously for external rectal prolapse (ERP). Results Seventy‐five patients underwent LVR (median age 58, range 25–88 years, median follow up was 12 months). Mortality (0%), major (0%) and minor morbidity (4%) were acceptably low. Median length of stay was 2 days. Preoperative constipation (median Wexner score 12) and faecal incontinence (median FISI score 28) improved significantly at 3 months (Wexner 4, FISI 8, both P < 0.0001) and 12 months (Wexner 5, FISI 8, both P < 0.0001). No patient had worse function. Functional outcomes were similar to those for ERP. Conclusion Laparoscopic ventral rectopexy for internal rectal prolapse improves symptoms of obstructed defaecation and faecal incontinence in the short‐term. This establishes proof of concept for a nerve‐sparing surgical treatment for internal rectal prolapse.