Clinical presentation and long-term outcome of primary spinal peripheral primitive neuroectodermal tumors

Journal of Neuro-Oncology - Primary spinal peripheral primitive neuroectodermal tumors (pPNETs) are extremely rare entities that predominantly occur in children and young adults. Few studies have...     

Molecular classification of non-invasive breast lesions for personalised therapy and chemoprevention

Breast cancer screening has led to a dramatic increase in the detection of pre-invasive breast lesions. While mastectomy is almost guaranteed to treat the disease, more conservative approaches could be as effective if patients can be stratified based on risk of co-existing or recurrent invasive disease.Here we use a range of biomarkers to interrogate and classify purely non-invasive lesions (PNL) and those with co-existing invasive breast cancer (CEIN). Apart from Ductal Carcinoma in situ (DCIS), relative homogeneity is observed. DCIS contained a greater spread of molecular subtypes. Interestingly, high expression of p-mTOR was observed in all PNL with lower expression in DCIS and invasive carcinoma while the opposite expression pattern was observed for TOP2A.Comparing PNL with CEIN, we have identified p53 and Ki67 as predictors of CEIN with a combined PPV and NPV of 90.48% and 43.3% respectively. Furthermore, HER2 expression showed the best concordance between DCIS and its invasive counterpart.We propose that these biomarkers can be used to improve the management of patients with pre-invasive breast lesions following further validation and clinical trials. p53 and Ki67 could be used to stratify patients into low and high-risk groups for co-existing disease. Knowledge of expression of more actionable targets such as HER2 or TOP2A can be used to design chemoprevention or neo-adjuvant strategies. Increased knowledge of the molecular profile of pre-invasive lesions can only serve to enhance our understanding of the disease and, in the era of personalised medicine, bring us closer to improving breast cancer care.     

周围动脉闭塞性疾病患者认知功能的调查

目的:探讨周围动脉闭塞性疾病与认知功能的关系.方法:对北京万寿路地区1 730例60岁以上老年人进行电话访问、神经系统查体认知功能问卷及多普勒检查,对其中患有周围动脉闭塞性疾病人群的认知功能与非患病人群进行比较.结果:周围动脉闭塞人群的简易智能状态检查(MMSE)得分低于正常人群,其中计算力、延迟记忆及画钟测试两组得分差异有显著性.影响MMSE得分的因素包括年龄、文化程度、糖尿病、脑卒中史、肱踝动脉压力指数阳性、血浆纤维蛋白原水平.结论:周围动脉闭塞性疾病影响认知功能,可作为认知功能下降的预示指标.     

肺栓塞39例诊断和治疗评价

目的：分析39例肺栓塞（PE）的临床特点，提高对肺栓塞的认识。方法：回顾分析39例PE的病因、症状、体征和实验室检查结果。结果：下肢深静脉血栓（DVT）是PE发生的主要原因（占64．1％），肿瘤（占20．5％），先心（占5．1％）等是常见原因。结论：PE是一种误诊率很高的疾病，核素肺通气／灌注扫描具有很高的诊断价值，及时诊断和溶栓治疗是改善预后的关键。     

Oxidative stress in Chinese patients with Leber's hereditary optic neuropathy

The cellular mechanisms of Leber's hereditary optic neuropathy (LHON) are poorly understood and there is little information on the onset of blindness and neurological degeneration. Here we define the relationship between oxidative stress and LHON pathogenicity at the cellular level. Venous blood was obtained from 14 patients with LHON, 21 asymptomatic maternal relatives and 30 normal individuals (controls). The level of free radicals in blood was assessed as luminol luminescence immediately and at 10 min after addition of phytohaemagglutinin. In LHON patients and their asymptomatic relatives, free radicals increased significantly immediately after adding phytohaemagglutinin compared with baseline and normal controls. After 10 min, however, there were no significant differences between and within the groups. These results suggest that the antioxidant capacity is reduced in the blood of patients with LHON and in asymptomatic relatives, and that oxidative stress plays a significant role in the pathogenesis of LHON.